# RGD-PIPELINE: ftp-file-extracts # MODULE: annotations-version-1.1.9 (Oct 10, 2019) # GENERATED-ON: 2026/01/31 # PURPOSE: annotations about active Human objects extracted from RGD database # ONTOLOGY: RDO: RGD Disease Ontology # CONTACT: rgd.data@mcw.edu # FORMAT: tab delimited text # NOTES: multiple values in a single column are separated by '|' # #COLUMN INFORMATION: # #1 RGD_ID unique RGD_ID of the annotated object #2 OBJECT_SYMBOL official symbol of the annotated object #3 OBJECT_NAME official name of the annotated object #4 OBJECT_TYPE annotated object data type: one of ['gene','qtl','strain'] #5 TERM_ACC_ID ontology term accession id #6 TERM_NAME ontology term name #7 QUALIFIER optional qualifier #8 EVIDENCE evidence #9 WITH with info #10 ASPECT aspect #11 REFERENCES db references (Reference RGDID|PUBMED ID) #12 CREATED_DATE created date #13 ASSIGNED_BY assigned by #14 MESH_OMIM_ID MESH:xxx or OMIM:xxx id corresponding to RDO:xxx id found in TERM_ACC_ID column (RGD/CTD Disease Ontology annotations only) #15 CURATION_NOTES curation notes provided by RGD curators #16 ORIGINAL_REFERENCE original reference RGD_ID OBJECT_SYMBOL OBJECT_NAME OBJECT_TYPE TERM_ACC_ID TERM_NAME QUALIFIER EVIDENCE WITH ASPECT REFERENCES CREATED_DATE ASSIGNED_BY MESH_OMIM_ID CURATION_NOTES ORIGINAL_REFERENCE 10040878 CROCC2 ciliary rootlet coiled-coil, rootletin family member 2 gene DOID:0080600 COVID-19 HEP D RGD:28912744|PMID:32228226 20200610 RGD mRNA:decreased expression:peripheral blood mononuclear cell (human) 10041075 CV185738 NM_058163.3(TSR2):c.191A>G (p.Glu64Gly) variant DOID:0111894 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis PMID:11424144|PMID:24942156 10041075 CV185738 NM_058163.3(TSR2):c.191A>G (p.Glu64Gly) variant DOID:0111897 Diamond-Blackfan anemia 14 with mandibulofacial dysostosis IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 14 with mandibulofacial dysostosis PMID:11424144|PMID:24942156 10041076 CV185739 NM_001031.5(RPS28):c.1A>G (p.Met1Val) variant DOID:0111894 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis PMID:24942156|PMID:25741868 10041077 CV185740 NM_001029.5(RPS26):c.259C>T (p.Arg87Ter) variant DOID:0111888 Diamond-Blackfan anemia 10 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 10 PMID:19816270|PMID:20116044|PMID:23718193|PMID:24675553|PMID:24942156|PMID:28492532 10041077 CV185740 NM_001029.5(RPS26):c.259C>T (p.Arg87Ter) variant DOID:0111894 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis PMID:19816270|PMID:20116044|PMID:23718193|PMID:24675553|PMID:24942156|PMID:28492532 10041077 CV185740 NM_001029.5(RPS26):c.259C>T (p.Arg87Ter) variant DOID:1339 Diamond-Blackfan anemia IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia PMID:19816270|PMID:20116044|PMID:23718193|PMID:24675553|PMID:24942156|PMID:28492532 10041078 CV185751 NM_004092.4(ECHS1):c.473C>A (p.Ala158Asp) variant DOID:0070540 mitochondrial short-chain enoyl-CoA hydratase 1 deficiency IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Mitochondrial short-chain enoyl-coa hydratase 1 deficiency PMID:25125611 10041079 CV185798 NM_005957.5(MTHFR):c.-13-28_-13-27del variant DOID:9001648 Methylenetetrahydrofolate Reductase Deficiency IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency PMID:25736335|PMID:28492532 10041080 CV185797 NM_005957.5(MTHFR):c.136C>T (p.Arg46Trp) variant DOID:9001648 Methylenetetrahydrofolate Reductase Deficiency IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Homocystinuria due to MTHFR deficiency PMID:16272757|PMID:25736335|PMID:26025547|PMID:26872964|PMID:27743313|PMID:28492532|PMID:28645778|PMID:29391032|PMID:29722429|PMID:30687093|PMID:30887117|PMID:31068897|PMID:31130284|PMID:31562900|PMID:32038468|PMID:32289814|PMID:32722525|PMID:33000330|PMID:33571559|PMID:34214447|PMID:34426522|PMID:34707639|PMID:34737766|PMID:34845156|PMID:35008593|PMID:35322348|PMID:35359558|PMID:35578252|PMID:36813871 10041081 CV185796 NM_005957.5(MTHFR):c.137G>A (p.Arg46Gln) variant DOID:9001648 Methylenetetrahydrofolate Reductase Deficiency IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency PMID:25736335|PMID:25741868|PMID:28241805|PMID:28492532|PMID:33125268|PMID:34214447|PMID:34845156|PMID:35008593 10041081 CV185796 NM_005957.5(MTHFR):c.137G>A (p.Arg46Gln) variant DOID:9001989 Folate-Sensitive Neural Tube Defects IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Neural tube defects, folate-sensitive PMID:25736335|PMID:25741868|PMID:28241805|PMID:28492532|PMID:33125268|PMID:34214447|PMID:34845156|PMID:35008593 10041082 CV185795 NM_005957.5(MTHFR):c.176G>C (p.Trp59Ser) variant DOID:9001648 Methylenetetrahydrofolate Reductase Deficiency IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY PMID:25736335 10041083 CV185794 NM_005957.5(MTHFR):c.202C>G (p.Arg68Gly) variant DOID:0111907 thrombophilia due to thrombin defect IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: THROMBOPHILIA DUE TO FACTOR 2 DEFECT PMID:25736335|PMID:25741868|PMID:27743313|PMID:28492532|PMID:29246599|PMID:32451826 10041083 CV185794 NM_005957.5(MTHFR):c.202C>G (p.Arg68Gly) variant DOID:5419 schizophrenia IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:25736335|PMID:25741868|PMID:27743313|PMID:28492532|PMID:29246599|PMID:32451826 10041083 CV185794 NM_005957.5(MTHFR):c.202C>G (p.Arg68Gly) variant DOID:9001648 Methylenetetrahydrofolate Reductase Deficiency IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency PMID:25736335|PMID:25741868|PMID:27743313|PMID:28492532|PMID:29246599|PMID:32451826 10041083 CV185794 NM_005957.5(MTHFR):c.202C>G (p.Arg68Gly) variant DOID:9001989 Folate-Sensitive Neural Tube Defects IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Neural tube defects, folate-sensitive PMID:25736335|PMID:25741868|PMID:27743313|PMID:28492532|PMID:29246599|PMID:32451826 10041084 CV185793 NM_005957.5(MTHFR):c.244C>T (p.Arg82Trp) variant DOID:9001648 Methylenetetrahydrofolate Reductase Deficiency IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY PMID:25736335 10041085 CV185792 NM_005957.5(MTHFR):c.264_302dup (p.Leu89_Pro101dup) variant DOID:9001648 Methylenetetrahydrofolate Reductase Deficiency IAGP D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency PMID:25736335|PMID:25741868 10041086 CV185791 NM_005957.5(MTHFR):c.337G>A (p.Ala113Thr) variant DOID:9001648 Methylenetetrahydrofolate Reductase Deficiency IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency PMID:25736335|PMID:25741868|PMID:28492532 10041086 CV185791 NM_005957.5(MTHFR):c.337G>A (p.Ala113Thr) variant DOID:9001989 Folate-Sensitive Neural Tube Defects IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Neural tube defects, folate-sensitive PMID:25736335|PMID:25741868|PMID:28492532 10041087 CV185790 NM_005957.5(MTHFR):c.379C>T (p.His127Tyr) variant DOID:9001648 Methylenetetrahydrofolate Reductase Deficiency IAGP D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency PMID:25736335|PMID:25741868|PMID:25758715|PMID:34214447 10041088 CV185789 NM_005957.5(MTHFR):c.388T>C (p.Cys130Arg) variant DOID:9001648 Methylenetetrahydrofolate Reductase Deficiency IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY PMID:25736335 10041089 CV185788 NM_005957.5(MTHFR):c.440A>C (p.Gln147Pro) variant DOID:9001648 Methylenetetrahydrofolate Reductase Deficiency IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency PMID:25736335|PMID:25741868 10041089 CV185788 NM_005957.5(MTHFR):c.440A>C (p.Gln147Pro) variant DOID:9001989 Folate-Sensitive Neural Tube Defects IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Neural tube defects, folate-sensitive PMID:25736335|PMID:25741868 10041090 CV185787 NM_005957.5(MTHFR):c.548G>A (p.Arg183Gln) variant DOID:0111907 thrombophilia due to thrombin defect IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Thrombophilia due to thrombin defect PMID:25736335|PMID:25741868|PMID:27743313|PMID:28492532 10041090 CV185787 NM_005957.5(MTHFR):c.548G>A (p.Arg183Gln) variant DOID:9001648 Methylenetetrahydrofolate Reductase Deficiency IAGP D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency PMID:25736335|PMID:25741868|PMID:27743313|PMID:28492532 10041090 CV185787 NM_005957.5(MTHFR):c.548G>A (p.Arg183Gln) variant DOID:9001989 Folate-Sensitive Neural Tube Defects IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Neural tube defects, folate-sensitive PMID:25736335|PMID:25741868|PMID:27743313|PMID:28492532 10041091 CV185786 NM_005957.5(MTHFR):c.587G>A (p.Gly196Asp) variant DOID:9001648 Methylenetetrahydrofolate Reductase Deficiency IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY PMID:25736335 10041092 CV185785 NM_005957.5(MTHFR):c.643_645del (p.Lys215del) variant DOID:9001648 Methylenetetrahydrofolate Reductase Deficiency IAGP D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency PMID:25736335|PMID:26025547|PMID:26872964|PMID:27768236|PMID:28492532|PMID:31068897|PMID:32230794 10041093 CV185784 NM_005957.5(MTHFR):c.673A>C (p.Ile225Leu) variant DOID:9001648 Methylenetetrahydrofolate Reductase Deficiency IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY PMID:25736335 10041095 CV185782 NM_005957.5(MTHFR):c.760C>T (p.Pro254Ser) variant DOID:9001648 Methylenetetrahydrofolate Reductase Deficiency IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency PMID:25736335|PMID:28492532 10041096 CV185781 NM_005957.5(MTHFR):c.764G>T (p.Gly255Val) variant DOID:9001648 Methylenetetrahydrofolate Reductase Deficiency IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY PMID:25736335 10041097 CV185780 NM_005957.5(MTHFR):c.767T>A (p.Ile256Asn) variant DOID:9001648 Methylenetetrahydrofolate Reductase Deficiency IAGP D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency PMID:25736335|PMID:28492532 10041098 CV185779 NM_005957.5(MTHFR):c.769T>G (p.Phe257Val) variant DOID:9001648 Methylenetetrahydrofolate Reductase Deficiency IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Homocystinuria due to MTHFR deficiency PMID:25736335|PMID:34214447 10041099 CV185778 NM_005957.5(MTHFR):c.780+1G>T variant DOID:9001648 Methylenetetrahydrofolate Reductase Deficiency IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY PMID:25736335 10041100 CV185777 NM_005957.5(MTHFR):c.1004G>A (p.Arg335His) variant DOID:0111907 thrombophilia due to thrombin defect IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: THROMBOPHILIA DUE TO FACTOR 2 DEFECT PMID:25736335|PMID:25741868|PMID:27743313|PMID:28492532|PMID:34015165|PMID:34214447|PMID:7726158 10041100 CV185777 NM_005957.5(MTHFR):c.1004G>A (p.Arg335His) variant DOID:5419 schizophrenia IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:25736335|PMID:25741868|PMID:27743313|PMID:28492532|PMID:34015165|PMID:34214447|PMID:7726158 10041100 CV185777 NM_005957.5(MTHFR):c.1004G>A (p.Arg335His) variant DOID:9001648 Methylenetetrahydrofolate Reductase Deficiency IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency PMID:25736335|PMID:25741868|PMID:27743313|PMID:28492532|PMID:34015165|PMID:34214447|PMID:7726158 10041100 CV185777 NM_005957.5(MTHFR):c.1004G>A (p.Arg335His) variant DOID:9001989 Folate-Sensitive Neural Tube Defects IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Neural tube defects, folate-sensitive PMID:25736335|PMID:25741868|PMID:27743313|PMID:28492532|PMID:34015165|PMID:34214447|PMID:7726158 10041101 CV185776 NM_005957.5(MTHFR):c.1042C>T (p.Pro348Ser) variant DOID:9001648 Methylenetetrahydrofolate Reductase Deficiency IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY PMID:25736335 10041102 CV185775 NM_005957.5(MTHFR):c.1060C>T (p.His354Tyr) variant DOID:9001648 Methylenetetrahydrofolate Reductase Deficiency IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency PMID:25736335|PMID:27743313|PMID:28492532 10041103 CV185774 NM_005957.5(MTHFR):c.1088G>A (p.Arg363His) variant DOID:9001648 Methylenetetrahydrofolate Reductase Deficiency IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency PMID:25736335|PMID:27743313|PMID:28492532 10041104 CV185773 NM_005957.5(MTHFR):c.1114A>G (p.Lys372Glu) variant DOID:9001648 Methylenetetrahydrofolate Reductase Deficiency IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY PMID:25736335 10041105 CV185772 NM_005957.5(MTHFR):c.1167-2del variant DOID:9001648 Methylenetetrahydrofolate Reductase Deficiency IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency PMID:25736335|PMID:25741868|PMID:28492532 10041105 CV185772 NM_005957.5(MTHFR):c.1167-2del variant DOID:9001989 Folate-Sensitive Neural Tube Defects IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Neural tube defects, folate-sensitive PMID:25736335|PMID:25741868|PMID:28492532 10041106 CV185771 NM_005957.5(MTHFR):c.1262G>C (p.Trp421Ser) variant DOID:9001648 Methylenetetrahydrofolate Reductase Deficiency IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency PMID:25736335|PMID:25741868|PMID:27743313|PMID:28492532|PMID:31069529 10041106 CV185771 NM_005957.5(MTHFR):c.1262G>C (p.Trp421Ser) variant DOID:9001989 Folate-Sensitive Neural Tube Defects IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Neural tube defects, folate-sensitive PMID:25736335|PMID:25741868|PMID:27743313|PMID:28492532|PMID:31069529 10041107 CV185770 NM_005957.5(MTHFR):c.1320G>A (p.Ser440=) variant DOID:0111907 thrombophilia due to thrombin defect IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: THROMBOPHILIA DUE TO FACTOR 2 DEFECT PMID:25736335|PMID:25741868|PMID:28492532 10041107 CV185770 NM_005957.5(MTHFR):c.1320G>A (p.Ser440=) variant DOID:5419 schizophrenia IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: SCHIZOPHRENIA WITH OR WITHOUT AN AFFECTIVE DISORDER PMID:25736335|PMID:25741868|PMID:28492532 10041107 CV185770 NM_005957.5(MTHFR):c.1320G>A (p.Ser440=) variant DOID:9001648 Methylenetetrahydrofolate Reductase Deficiency IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency PMID:25736335|PMID:25741868|PMID:28492532 10041107 CV185770 NM_005957.5(MTHFR):c.1320G>A (p.Ser440=) variant DOID:9001989 Folate-Sensitive Neural Tube Defects IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neural tube defects, folate-sensitive PMID:25736335|PMID:25741868|PMID:28492532 10041108 CV185769 NM_005957.5(MTHFR):c.1516T>G (p.Tyr506Asp) variant DOID:9001648 Methylenetetrahydrofolate Reductase Deficiency IAGP D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency PMID:25736335|PMID:25741868 10041109 CV185768 NM_005957.5(MTHFR):c.1530+2T>C variant DOID:9001648 Methylenetetrahydrofolate Reductase Deficiency IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY PMID:25736335 10041110 CV185767 NM_005957.5(MTHFR):c.1606G>T (p.Val536Phe) variant DOID:9001648 Methylenetetrahydrofolate Reductase Deficiency IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency PMID:25736335|PMID:27743313|PMID:28492532 10041111 CV185766 NM_005957.5(MTHFR):c.1632+2T>G variant DOID:0111907 thrombophilia due to thrombin defect IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: THROMBOPHILIA DUE TO FACTOR 2 DEFECT PMID:16199547|PMID:25736335|PMID:25741868|PMID:28492532 10041111 CV185766 NM_005957.5(MTHFR):c.1632+2T>G variant DOID:5419 schizophrenia IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: SCHIZOPHRENIA WITH OR WITHOUT AN AFFECTIVE DISORDER PMID:16199547|PMID:25736335|PMID:25741868|PMID:28492532 10041111 CV185766 NM_005957.5(MTHFR):c.1632+2T>G variant DOID:9001648 Methylenetetrahydrofolate Reductase Deficiency IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency PMID:16199547|PMID:25736335|PMID:25741868|PMID:28492532 10041111 CV185766 NM_005957.5(MTHFR):c.1632+2T>G variant DOID:9001989 Folate-Sensitive Neural Tube Defects IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neural tube defects, folate-sensitive PMID:16199547|PMID:25736335|PMID:25741868|PMID:28492532 10041112 CV185765 NM_005957.5(MTHFR):c.1683G>A (p.Trp561Ter) variant DOID:0080074 neural tube defect IAGP D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Neural tube defect PMID:25736335|PMID:25741868 10041112 CV185765 NM_005957.5(MTHFR):c.1683G>A (p.Trp561Ter) variant DOID:9001648 Methylenetetrahydrofolate Reductase Deficiency IAGP D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY PMID:25736335|PMID:25741868 10041112 CV185765 NM_005957.5(MTHFR):c.1683G>A (p.Trp561Ter) variant DOID:9001989 Folate-Sensitive Neural Tube Defects IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Neural tube defects, folate-sensitive PMID:25736335|PMID:25741868 10041113 CV185764 NM_005957.5(MTHFR):c.1724T>G (p.Val575Gly) variant DOID:9001648 Methylenetetrahydrofolate Reductase Deficiency IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY PMID:25736335 10041114 CV185763 NM_005957.5(MTHFR):c.1752+1G>T variant DOID:9001648 Methylenetetrahydrofolate Reductase Deficiency IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency PMID:17576681|PMID:25736335|PMID:25741868|PMID:28492532|PMID:9536098 10041114 CV185763 NM_005957.5(MTHFR):c.1752+1G>T variant DOID:9001989 Folate-Sensitive Neural Tube Defects IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Neural tube defects, folate-sensitive PMID:17576681|PMID:25736335|PMID:25741868|PMID:28492532|PMID:9536098 10041115 CV185762 NM_005957.5(MTHFR):c.1753-18G>A variant DOID:9001648 Methylenetetrahydrofolate Reductase Deficiency IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency PMID:25736335|PMID:25741868|PMID:28492532 10041115 CV185762 NM_005957.5(MTHFR):c.1753-18G>A variant DOID:9001989 Folate-Sensitive Neural Tube Defects IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Neural tube defects, folate-sensitive PMID:25736335|PMID:25741868|PMID:28492532 10041116 CV185761 NM_005957.5(MTHFR):c.1793T>C (p.Leu598Pro) variant DOID:9001648 Methylenetetrahydrofolate Reductase Deficiency IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency PMID:25736335|PMID:28492532 10041118 CV185759 NM_005957.5(MTHFR):c.1808C>G (p.Ser603Cys) variant DOID:9001648 Methylenetetrahydrofolate Reductase Deficiency IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY PMID:25736335 10041119 CV185758 NM_005957.5(MTHFR):c.1883T>C (p.Leu628Pro) variant DOID:9001648 Methylenetetrahydrofolate Reductase Deficiency IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY PMID:25736335 10041120 CV185757 NM_005957.5(MTHFR):c.1969T>C (p.Ter657Arg) variant DOID:9001648 Methylenetetrahydrofolate Reductase Deficiency IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency PMID:25736335|PMID:25741868 10041120 CV185757 NM_005957.5(MTHFR):c.1969T>C (p.Ter657Arg) variant DOID:9001989 Folate-Sensitive Neural Tube Defects IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Neural tube defects, folate-sensitive PMID:25736335|PMID:25741868 10041258 CV185938 NM_052867.4(NALCN):c.3542G>A (p.Arg1181Gln) variant DOID:0081048 congenital limbs-face contractures-hypotonia-developmental delay syndrome IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Congenital contractures of the limbs and face, hypotonia, and developmental delay PMID:25683120|PMID:25741868|PMID:25864427|PMID:26763878|PMID:28454995|PMID:28492532 10041258 CV185938 NM_052867.4(NALCN):c.3542G>A (p.Arg1181Gln) variant DOID:630 genetic disease IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25683120|PMID:25741868|PMID:25864427|PMID:26763878|PMID:28454995|PMID:28492532 10041258 CV185938 NM_052867.4(NALCN):c.3542G>A (p.Arg1181Gln) variant DOID:9001769 Intellectual Disability with Episodic Ataxia and Congenital Arthrogryposis IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Intellectual disability with episodic ataxia and congenital arthrogryposis PMID:25683120|PMID:25741868|PMID:25864427|PMID:26763878|PMID:28454995|PMID:28492532 10041259 CV185945 NM_004608.4(TBX6):c.-49+34G>T variant DOID:0112363 spondylocostal dysostosis 5 IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:25741868 10041260 CV185949 NM_001244008.2(KIF1A):c.206C>T (p.Ser69Leu) variant DOID:0110781 hereditary spastic paraplegia 30 IAGP D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive PMID:25585697|PMID:25741868|PMID:26410750|PMID:28492532|PMID:29159194|PMID:31488895|PMID:32096284 10041260 CV185949 NM_001244008.2(KIF1A):c.206C>T (p.Ser69Leu) variant DOID:2476 hereditary spastic paraplegia IAGP D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:25585697|PMID:25741868|PMID:26410750|PMID:28492532|PMID:29159194|PMID:31488895|PMID:32096284 10041261 CV186069 NM_000245.4(MET):c.3509G>A (p.Arg1170Gln) variant DOID:0110539 autosomal recessive nonsyndromic deafness 97 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 97 PMID:25741868|PMID:26467025|PMID:28492532 10041261 CV186069 NM_000245.4(MET):c.3509G>A (p.Arg1170Gln) variant DOID:4450 renal cell carcinoma IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma PMID:25741868|PMID:26467025|PMID:28492532 10041261 CV186069 NM_000245.4(MET):c.3509G>A (p.Arg1170Gln) variant DOID:684 hepatocellular carcinoma IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer PMID:25741868|PMID:26467025|PMID:28492532 10041261 CV186069 NM_000245.4(MET):c.3509G>A (p.Arg1170Gln) variant DOID:9002127 Osteofibrous Dysplasia IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Osteofibrous dysplasia PMID:25741868|PMID:26467025|PMID:28492532 10041261 CV186069 NM_000245.4(MET):c.3509G>A (p.Arg1170Gln) variant DOID:9002242 Distal Arthrogryposis Type 11 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 11 PMID:25741868|PMID:26467025|PMID:28492532 10041261 CV186069 NM_000245.4(MET):c.3509G>A (p.Arg1170Gln) variant DOID:9006972 Renal Cell Carcinoma 1 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:25741868|PMID:26467025|PMID:28492532 10041261 CV186069 NM_000245.4(MET):c.3509G>A (p.Arg1170Gln) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:26467025|PMID:28492532 10041262 CV186070 NM_000245.4(MET):c.3876A>G (p.Ile1292Met) variant DOID:4450 renal cell carcinoma IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma PMID:28492532 10041262 CV186070 NM_000245.4(MET):c.3876A>G (p.Ile1292Met) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:28492532 10041263 CV186166 NM_000075.4(CDK4):c.*5T>C variant DOID:6846 familial melanoma IAGP D RGD:8554872 20180724 ClinVar ClinVar Annotator: match by term: Hereditary cutaneous melanoma PMID:28492532 10041264 CV186195 NM_015346.4(ZFYVE26):c.2074C>T (p.Leu692Phe) variant DOID:607 paraplegia IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 10041264 CV186195 NM_015346.4(ZFYVE26):c.2074C>T (p.Leu692Phe) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10041266 CV186050 NM_001369.3(DNAH5):c.1206T>A (p.Asn402Lys) variant DOID:0110599 primary ciliary dyskinesia 3 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 3 PMID:24033266|PMID:25741868|PMID:28492532|PMID:30300419 10041266 CV186050 NM_001369.3(DNAH5):c.1206T>A (p.Asn402Lys) variant DOID:9562 primary ciliary dyskinesia IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:24033266|PMID:25741868|PMID:28492532|PMID:30300419 10041267 CV186192 NM_015346.4(ZFYVE26):c.5880G>T (p.Arg1960Ser) variant DOID:607 paraplegia IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 10041268 CV185968 NM_014946.4(SPAST):c.1637G>A (p.Gly546Glu) variant DOID:0110792 hereditary spastic paraplegia 4 IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 PMID:18410514|PMID:18701882|PMID:27260292|PMID:28492532|PMID:9695811 10041269 CV186201 NM_025137.4(SPG11):c.4687A>G (p.Arg1563Gly) variant DOID:0060197 amyotrophic lateral sclerosis type 5 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 5 PMID:25741868|PMID:28492532 10041269 CV186201 NM_025137.4(SPG11):c.4687A>G (p.Arg1563Gly) variant DOID:0110176 Charcot-Marie-Tooth disease axonal type 2X IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2X PMID:25741868|PMID:28492532 10041269 CV186201 NM_025137.4(SPG11):c.4687A>G (p.Arg1563Gly) variant DOID:0110764 hereditary spastic paraplegia 11 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 11, autosomal recessive PMID:25741868|PMID:28492532 10041269 CV186201 NM_025137.4(SPG11):c.4687A>G (p.Arg1563Gly) variant DOID:2476 hereditary spastic paraplegia IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:25741868|PMID:28492532 10041270 CV186051 NM_024577.4(SH3TC2):c.3686A>T (p.Asp1229Val) variant DOID:0050541 Charcot-Marie-Tooth disease type 4 IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:21291453|PMID:25025039|PMID:25188385|PMID:25741868|PMID:26257172|PMID:26392352|PMID:26467025|PMID:28492532 10041270 CV186051 NM_024577.4(SH3TC2):c.3686A>T (p.Asp1229Val) variant DOID:0110183 Charcot-Marie-Tooth disease type 4C IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 4C PMID:21291453|PMID:25025039|PMID:25188385|PMID:25741868|PMID:26257172|PMID:26392352|PMID:26467025|PMID:28492532 10041270 CV186051 NM_024577.4(SH3TC2):c.3686A>T (p.Asp1229Val) variant DOID:10595 Charcot-Marie-Tooth disease IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:21291453|PMID:25025039|PMID:25188385|PMID:25741868|PMID:26257172|PMID:26392352|PMID:26467025|PMID:28492532 10041270 CV186051 NM_024577.4(SH3TC2):c.3686A>T (p.Asp1229Val) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21291453|PMID:25025039|PMID:25188385|PMID:25741868|PMID:26257172|PMID:26392352|PMID:26467025|PMID:28492532 10041270 CV186051 NM_024577.4(SH3TC2):c.3686A>T (p.Asp1229Val) variant DOID:9005946 Mononeuropathy of the Median Nerve, Mild IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Mononeuropathy of the median nerve, mild PMID:21291453|PMID:25025039|PMID:25188385|PMID:25741868|PMID:26257172|PMID:26392352|PMID:26467025|PMID:28492532 10041271 CV186076 NM_002047.4(GARS1):c.803C>T (p.Thr268Ile) variant DOID:0050539 Charcot-Marie-Tooth disease type 2 IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 PMID:25741868|PMID:26467025|PMID:27582484|PMID:28492532|PMID:28594869 10041271 CV186076 NM_002047.4(GARS1):c.803C>T (p.Thr268Ile) variant DOID:0110164 Charcot-Marie-Tooth disease type 2D IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2D PMID:25741868|PMID:26467025|PMID:27582484|PMID:28492532|PMID:28594869 10041271 CV186076 NM_002047.4(GARS1):c.803C>T (p.Thr268Ile) variant DOID:0111203 autosomal dominant distal hereditary motor neuronopathy 5 IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5A PMID:25741868|PMID:26467025|PMID:27582484|PMID:28492532|PMID:28594869 10041271 CV186076 NM_002047.4(GARS1):c.803C>T (p.Thr268Ile) variant DOID:10595 Charcot-Marie-Tooth disease IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:25741868|PMID:26467025|PMID:27582484|PMID:28492532|PMID:28594869 10041271 CV186076 NM_002047.4(GARS1):c.803C>T (p.Thr268Ile) variant DOID:12377 spinal muscular atrophy IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy PMID:25741868|PMID:26467025|PMID:27582484|PMID:28492532|PMID:28594869 10041272 CV186160 NM_016156.6(MTMR2):c.14C>G (p.Ser5Trp) variant DOID:0050541 Charcot-Marie-Tooth disease type 4 IAGP D RGD:8554872 20180724 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IV PMID:28492532 10041272 CV186160 NM_016156.6(MTMR2):c.14C>G (p.Ser5Trp) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10041273 CV186059 NM_000245.4(MET):c.40C>T (p.Leu14Phe) variant DOID:0110539 autosomal recessive nonsyndromic deafness 97 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 97 PMID:25741868|PMID:26467025|PMID:28492532|PMID:29641532|PMID:35264596|PMID:37529773 10041273 CV186059 NM_000245.4(MET):c.40C>T (p.Leu14Phe) variant DOID:4450 renal cell carcinoma IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma PMID:25741868|PMID:26467025|PMID:28492532|PMID:29641532|PMID:35264596|PMID:37529773 10041273 CV186059 NM_000245.4(MET):c.40C>T (p.Leu14Phe) variant DOID:684 hepatocellular carcinoma IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer PMID:25741868|PMID:26467025|PMID:28492532|PMID:29641532|PMID:35264596|PMID:37529773 10041273 CV186059 NM_000245.4(MET):c.40C>T (p.Leu14Phe) variant DOID:9006972 Renal Cell Carcinoma 1 IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:25741868|PMID:26467025|PMID:28492532|PMID:29641532|PMID:35264596|PMID:37529773 10041273 CV186059 NM_000245.4(MET):c.40C>T (p.Leu14Phe) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:26467025|PMID:28492532|PMID:29641532|PMID:35264596|PMID:37529773 10041274 CV186129 NM_001377.3(DYNC2H1):c.3995T>G (p.Leu1332Arg) variant DOID:0050592 asphyxiating thoracic dystrophy IAGP D RGD:8554872 20181023 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:28492532 10041275 CV186264 NM_058216.3(RAD51C):c.118G>A (p.Glu40Lys) variant DOID:0111096 Fanconi anemia complementation group O IAGP D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Fanconi anemia, complementation group O PMID:25741868|PMID:26467025|PMID:28492532 10041275 CV186264 NM_058216.3(RAD51C):c.118G>A (p.Glu40Lys) variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 PMID:25741868|PMID:26467025|PMID:28492532 10041275 CV186264 NM_058216.3(RAD51C):c.118G>A (p.Glu40Lys) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:26467025|PMID:28492532 10041276 CV186197 NM_144596.4(TTC8):c.484G>C (p.Gly162Arg) variant DOID:0110130 Bardet-Biedl syndrome 8 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: TTC8-related condition PMID:28492532 10041276 CV186197 NM_144596.4(TTC8):c.484G>C (p.Gly162Arg) variant DOID:1935 Bardet-Biedl syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 10041277 CV186053 NM_024577.4(SH3TC2):c.31C>T (p.Arg11Trp) variant DOID:0050541 Charcot-Marie-Tooth disease type 4 IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:25741868|PMID:26467025|PMID:28492532 10041277 CV186053 NM_024577.4(SH3TC2):c.31C>T (p.Arg11Trp) variant DOID:10595 Charcot-Marie-Tooth disease IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:25741868|PMID:26467025|PMID:28492532 10041277 CV186053 NM_024577.4(SH3TC2):c.31C>T (p.Arg11Trp) variant DOID:571 median neuropathy IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Mononeuropathy of the Median Nerve PMID:25741868|PMID:26467025|PMID:28492532 10041277 CV186053 NM_024577.4(SH3TC2):c.31C>T (p.Arg11Trp) variant DOID:630 genetic disease IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 10041278 CV186127 NM_001377.3(DYNC2H1):c.2860G>A (p.Glu954Lys) variant DOID:0050592 asphyxiating thoracic dystrophy IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:25741868|PMID:28492532 10041278 CV186127 NM_001377.3(DYNC2H1):c.2860G>A (p.Glu954Lys) variant DOID:0110087 asphyxiating thoracic dystrophy 3 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 PMID:25741868|PMID:28492532 10041279 CV186290 NM_000166.6(GJB1):c.116C>T (p.Ala39Val) variant DOID:0050542 Charcot-Marie-Tooth disease type X IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:10093067|PMID:10400511|PMID:10521546|PMID:12111842|PMID:18636082|PMID:22464564|PMID:26467025|PMID:28334782|PMID:28492532|PMID:28768847 10041279 CV186290 NM_000166.6(GJB1):c.116C>T (p.Ala39Val) variant DOID:10595 Charcot-Marie-Tooth disease IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10093067|PMID:10400511|PMID:10521546|PMID:12111842|PMID:18636082|PMID:22464564|PMID:26467025|PMID:28334782|PMID:28492532|PMID:28768847 10041281 CV186193 NM_015346.4(ZFYVE26):c.5678G>T (p.Ser1893Ile) variant DOID:0110768 hereditary spastic paraplegia 15 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 15 PMID:25741868|PMID:26467025|PMID:28492532 10041281 CV186193 NM_015346.4(ZFYVE26):c.5678G>T (p.Ser1893Ile) variant DOID:2476 hereditary spastic paraplegia IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:25741868|PMID:26467025|PMID:28492532 10041281 CV186193 NM_015346.4(ZFYVE26):c.5678G>T (p.Ser1893Ile) variant DOID:607 paraplegia IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:25741868|PMID:26467025|PMID:28492532 10041282 CV186077 NM_002047.4(GARS1):c.855C>G (p.Phe285Leu) variant DOID:0050539 Charcot-Marie-Tooth disease type 2 IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 PMID:28492532 10041283 CV186278 NM_017950.4(CCDC40):c.2152C>T (p.Arg718Trp) variant DOID:9562 primary ciliary dyskinesia IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532|PMID:31765523 10041284 CV186068 NM_000245.4(MET):c.3263A>G (p.His1088Arg) variant DOID:4450 renal cell carcinoma IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma PMID:28492532 10041285 CV186289 NM_003611.3(OFD1):c.1294A>G (p.Lys432Glu) variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:25741868|PMID:28492532 10041285 CV186289 NM_003611.3(OFD1):c.1294A>G (p.Lys432Glu) variant DOID:0060316 orofaciodigital syndrome I IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Orofaciodigital syndrome I PMID:25741868|PMID:28492532 10041285 CV186289 NM_003611.3(OFD1):c.1294A>G (p.Lys432Glu) variant DOID:0080342 Simpson-Golabi-Behmel syndrome type 2 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Simpson-Golabi-Behmel syndrome type 2 PMID:25741868|PMID:28492532 10041285 CV186289 NM_003611.3(OFD1):c.1294A>G (p.Lys432Glu) variant DOID:0110412 retinitis pigmentosa 23 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 23 PMID:25741868|PMID:28492532 10041285 CV186289 NM_003611.3(OFD1):c.1294A>G (p.Lys432Glu) variant DOID:0110980 Joubert syndrome 1 IAGP D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:25741868|PMID:28492532 10041285 CV186289 NM_003611.3(OFD1):c.1294A>G (p.Lys432Glu) variant DOID:0110981 Joubert syndrome 10 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Joubert syndrome 10 PMID:25741868|PMID:28492532 10041285 CV186289 NM_003611.3(OFD1):c.1294A>G (p.Lys432Glu) variant DOID:9562 primary ciliary dyskinesia IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:25741868|PMID:28492532 10041286 CV186291 NM_000166.6(GJB1):c.425G>A (p.Arg142Gln) variant DOID:0050542 Charcot-Marie-Tooth disease type X IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:10102421|PMID:10207904|PMID:10848620|PMID:11571214|PMID:21291455|PMID:25741868|PMID:27544631|PMID:28071741|PMID:28469099|PMID:28492532|PMID:31220874|PMID:31323543|PMID:31842800|PMID:32376792|PMID:33314704|PMID:8004109|PMID:9361298 10041286 CV186291 NM_000166.6(GJB1):c.425G>A (p.Arg142Gln) variant DOID:0110209 Charcot-Marie-Tooth disease X-linked dominant 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked dominant 1 PMID:10102421|PMID:10207904|PMID:10848620|PMID:11571214|PMID:21291455|PMID:25741868|PMID:27544631|PMID:28071741|PMID:28469099|PMID:28492532|PMID:31220874|PMID:31323543|PMID:31842800|PMID:32376792|PMID:33314704|PMID:8004109|PMID:9361298 10041286 CV186291 NM_000166.6(GJB1):c.425G>A (p.Arg142Gln) variant DOID:10595 Charcot-Marie-Tooth disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10102421|PMID:10207904|PMID:10848620|PMID:11571214|PMID:21291455|PMID:25741868|PMID:27544631|PMID:28071741|PMID:28469099|PMID:28492532|PMID:31220874|PMID:31323543|PMID:31842800|PMID:32376792|PMID:33314704|PMID:8004109|PMID:9361298 10041286 CV186291 NM_000166.6(GJB1):c.425G>A (p.Arg142Gln) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10102421|PMID:10207904|PMID:10848620|PMID:11571214|PMID:21291455|PMID:25741868|PMID:27544631|PMID:28071741|PMID:28469099|PMID:28492532|PMID:31220874|PMID:31323543|PMID:31842800|PMID:32376792|PMID:33314704|PMID:8004109|PMID:9361298 10041287 CV185964 NM_002156.5(HSPD1):c.794A>G (p.Asn265Ser) variant DOID:0110766 hereditary spastic paraplegia 13 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 13 PMID:28492532 10041287 CV185964 NM_002156.5(HSPD1):c.794A>G (p.Asn265Ser) variant DOID:607 paraplegia IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 10041288 CV185966 NM_014946.4(SPAST):c.1291C>T (p.Arg431Ter) variant DOID:0110792 hereditary spastic paraplegia 4 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 PMID:10699187|PMID:15841487|PMID:18701882|PMID:19423133|PMID:20718791|PMID:20932283|PMID:22960362|PMID:23252998|PMID:25454648|PMID:25525159|PMID:25741868|PMID:26208798|PMID:26467025|PMID:26671083|PMID:27084228|PMID:27334366|PMID:28492532|PMID:29980238|PMID:30006150|PMID:30476002|PMID:31594988|PMID:31751864|PMID:31851166|PMID:37144097|PMID:39825153 10041288 CV185966 NM_014946.4(SPAST):c.1291C>T (p.Arg431Ter) variant DOID:2476 hereditary spastic paraplegia IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:10699187|PMID:15841487|PMID:18701882|PMID:19423133|PMID:20718791|PMID:20932283|PMID:22960362|PMID:23252998|PMID:25454648|PMID:25525159|PMID:25741868|PMID:26208798|PMID:26467025|PMID:26671083|PMID:27084228|PMID:27334366|PMID:28492532|PMID:29980238|PMID:30006150|PMID:30476002|PMID:31594988|PMID:31751864|PMID:31851166|PMID:37144097|PMID:39825153 10041290 CV186066 NM_000245.4(MET):c.2909G>A (p.Arg970His) variant DOID:0110539 autosomal recessive nonsyndromic deafness 97 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 97 PMID:25741868|PMID:28492532 10041290 CV186066 NM_000245.4(MET):c.2909G>A (p.Arg970His) variant DOID:4450 renal cell carcinoma IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma PMID:25741868|PMID:28492532 10041290 CV186066 NM_000245.4(MET):c.2909G>A (p.Arg970His) variant DOID:9006972 Renal Cell Carcinoma 1 IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:25741868|PMID:28492532 10041290 CV186066 NM_000245.4(MET):c.2909G>A (p.Arg970His) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532 10041291 CV186163 NM_001370298.3(FGD4):c.1777C>A (p.Pro593Thr) variant DOID:0050541 Charcot-Marie-Tooth disease type 4 IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IV PMID:21270786|PMID:25741868|PMID:26392352|PMID:26467025|PMID:27981572|PMID:28492532 10041291 CV186163 NM_001370298.3(FGD4):c.1777C>A (p.Pro593Thr) variant DOID:0110192 Charcot-Marie-Tooth disease type 4H IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4H PMID:21270786|PMID:25741868|PMID:26392352|PMID:26467025|PMID:27981572|PMID:28492532 10041291 CV186163 NM_001370298.3(FGD4):c.1777C>A (p.Pro593Thr) variant DOID:10595 Charcot-Marie-Tooth disease IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:21270786|PMID:25741868|PMID:26392352|PMID:26467025|PMID:27981572|PMID:28492532 10041291 CV186163 NM_001370298.3(FGD4):c.1777C>A (p.Pro593Thr) variant DOID:630 genetic disease IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21270786|PMID:25741868|PMID:26392352|PMID:26467025|PMID:27981572|PMID:28492532 10041292 CV186153 NM_001122955.4(BSCL2):c.882C>G (p.Phe294Leu) variant DOID:0050539 Charcot-Marie-Tooth disease type 2 IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 PMID:28492532 10041293 CV185965 NM_014946.4(SPAST):c.1165A>G (p.Thr389Ala) variant DOID:0110792 hereditary spastic paraplegia 4 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 4 PMID:25741868|PMID:28492532 10041294 CV186075 NM_002047.4(GARS1):c.236G>A (p.Arg79Gln) variant DOID:0050539 Charcot-Marie-Tooth disease type 2 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:26467025|PMID:28492532|PMID:32376792 10041295 CV186161 NM_030962.4(SBF2):c.3110G>C (p.Arg1037Pro) variant DOID:0050541 Charcot-Marie-Tooth disease type 4 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:28492532 10041296 CV186126 NM_030962.4(SBF2):c.700C>T (p.Leu234Phe) variant DOID:0050541 Charcot-Marie-Tooth disease type 4 IAGP D RGD:8554872 20180724 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IV PMID:28492532 10041297 CV186065 NM_000245.4(MET):c.2363T>C (p.Val788Ala) variant DOID:4450 renal cell carcinoma IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma PMID:25741868|PMID:28492532 10041297 CV186065 NM_000245.4(MET):c.2363T>C (p.Val788Ala) variant DOID:9002127 Osteofibrous Dysplasia IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Osteofibrous dysplasia PMID:25741868|PMID:28492532 10041297 CV186065 NM_000245.4(MET):c.2363T>C (p.Val788Ala) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532 10041298 CV186205 NM_016630.7(SPG21):c.526A>G (p.Met176Val) variant DOID:0060245 MAST syndrome IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Mast syndrome PMID:28492532 10041299 CV185967 NM_014946.4(SPAST):c.1414-1G>C variant DOID:0110792 hereditary spastic paraplegia 4 IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 4, autosomal dominant PMID:25741868|PMID:28492532 10041300 CV186049 NM_001369.3(DNAH5):c.7998G>T (p.Glu2666Asp) variant DOID:0110599 primary ciliary dyskinesia 3 IAGP D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 3 PMID:18492703|PMID:24033266|PMID:28492532 10041300 CV186049 NM_001369.3(DNAH5):c.7998G>T (p.Glu2666Asp) variant DOID:9562 primary ciliary dyskinesia IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:18492703|PMID:24033266|PMID:28492532 10041301 CV186200 NM_025137.4(SPG11):c.6224A>G (p.Asn2075Ser) variant DOID:0110764 hereditary spastic paraplegia 11 IAGP D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 11, autosomal recessive PMID:24833714|PMID:25741868|PMID:26467025|PMID:27066562|PMID:28492532 10041301 CV186200 NM_025137.4(SPG11):c.6224A>G (p.Asn2075Ser) variant DOID:2476 hereditary spastic paraplegia IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:24833714|PMID:25741868|PMID:26467025|PMID:27066562|PMID:28492532 10041301 CV186200 NM_025137.4(SPG11):c.6224A>G (p.Asn2075Ser) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24833714|PMID:25741868|PMID:26467025|PMID:27066562|PMID:28492532 10041302 CV186020 NM_176824.3(BBS7):c.2063A>G (p.Asn688Ser) variant DOID:0110129 Bardet-Biedl syndrome 7 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 7 PMID:25741868|PMID:28492532 10041302 CV186020 NM_176824.3(BBS7):c.2063A>G (p.Asn688Ser) variant DOID:1935 Bardet-Biedl syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:25741868|PMID:28492532 10041302 CV186020 NM_176824.3(BBS7):c.2063A>G (p.Asn688Ser) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10041303 CV186091 NM_017780.4(CHD7):c.7179C>A (p.Asn2393Lys) variant DOID:0050834 CHARGE syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CHARGE association PMID:25741868|PMID:28492532 10041304 CV186074 NM_001277115.2(DNAH11):c.5185C>T (p.Pro1729Ser) variant DOID:0110605 primary ciliary dyskinesia 7 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 7 PMID:28492532 10041304 CV186074 NM_001277115.2(DNAH11):c.5185C>T (p.Pro1729Ser) variant DOID:9562 primary ciliary dyskinesia IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 10041305 CV186202 NM_025137.4(SPG11):c.3988C>G (p.Gln1330Glu) variant DOID:0060197 amyotrophic lateral sclerosis type 5 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 5 PMID:25741868|PMID:26467025|PMID:28492532 10041305 CV186202 NM_025137.4(SPG11):c.3988C>G (p.Gln1330Glu) variant DOID:0110176 Charcot-Marie-Tooth disease axonal type 2X IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2X PMID:25741868|PMID:26467025|PMID:28492532 10041305 CV186202 NM_025137.4(SPG11):c.3988C>G (p.Gln1330Glu) variant DOID:0110764 hereditary spastic paraplegia 11 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 11, autosomal recessive PMID:25741868|PMID:26467025|PMID:28492532 10041305 CV186202 NM_025137.4(SPG11):c.3988C>G (p.Gln1330Glu) variant DOID:2476 hereditary spastic paraplegia IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:25741868|PMID:26467025|PMID:28492532 10041305 CV186202 NM_025137.4(SPG11):c.3988C>G (p.Gln1330Glu) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 10041306 CV186203 NM_025137.4(SPG11):c.2877C>A (p.Cys959Ter) variant DOID:0110764 hereditary spastic paraplegia 11 IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 PMID:19105190|PMID:20110243|PMID:22154821|PMID:25741868|PMID:26556829|PMID:28492532|PMID:32383541|PMID:3283541 10041307 CV186060 NM_000245.4(MET):c.818C>G (p.Thr273Ser) variant DOID:4450 renal cell carcinoma IAGP D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma PMID:28492532 10041307 CV186060 NM_000245.4(MET):c.818C>G (p.Thr273Ser) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:28492532 10041308 CV186092 NM_002485.5(NBN):c.2165G>A (p.Trp722Ter) variant DOID:7400 Nijmegen breakage syndrome IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Microcephaly, normal intelligence and immunodeficiency PMID:16415040|PMID:28492532|PMID:9590180 10041309 CV186071 NM_000245.4(MET):c.4144C>T (p.Arg1382Ter) variant DOID:4450 renal cell carcinoma IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma PMID:25741868|PMID:28492532|PMID:28603720|PMID:29674709|PMID:30093976 10041309 CV186071 NM_000245.4(MET):c.4144C>T (p.Arg1382Ter) variant DOID:9006972 Renal Cell Carcinoma 1 IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:25741868|PMID:28492532|PMID:28603720|PMID:29674709|PMID:30093976 10041309 CV186071 NM_000245.4(MET):c.4144C>T (p.Arg1382Ter) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532|PMID:28603720|PMID:29674709|PMID:30093976 10041310 CV186226 NM_032444.4(SLX4):c.2153T>G (p.Ile718Ser) variant DOID:0111092 Fanconi anemia complementation group P IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group P PMID:25741868|PMID:28492532 10041310 CV186226 NM_032444.4(SLX4):c.2153T>G (p.Ile718Ser) variant DOID:13636 Fanconi anemia IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:25741868|PMID:28492532 10041311 CV186286 NM_030578.4(B9D2):c.156_163del (p.Asp53fs) variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:21763481|PMID:28492532 10041312 CV186088 NM_014846.4(WASHC5):c.3319G>A (p.Val1107Met) variant DOID:0110823 hereditary spastic paraplegia 8 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 PMID:25741868|PMID:26467025|PMID:28492532 10041312 CV186088 NM_014846.4(WASHC5):c.3319G>A (p.Val1107Met) variant DOID:2476 hereditary spastic paraplegia IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:25741868|PMID:26467025|PMID:28492532 10041313 CV186225 NM_032444.4(SLX4):c.3367T>C (p.Ser1123Pro) variant DOID:0111092 Fanconi anemia complementation group P IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group P PMID:25741868|PMID:28492532 10041313 CV186225 NM_032444.4(SLX4):c.3367T>C (p.Ser1123Pro) variant DOID:13636 Fanconi anemia IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:25741868|PMID:28492532 10041314 CV186024 NM_001166108.2(PALLD):c.*153A>G variant DOID:4074 pancreatic adenocarcinoma IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma PMID:28492532 10041315 CV186063 NM_000245.4(MET):c.1984A>G (p.Ile662Val) variant DOID:0110539 autosomal recessive nonsyndromic deafness 97 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 97 PMID:25741868|PMID:28492532 10041315 CV186063 NM_000245.4(MET):c.1984A>G (p.Ile662Val) variant DOID:4450 renal cell carcinoma IAGP D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma PMID:25741868|PMID:28492532 10041315 CV186063 NM_000245.4(MET):c.1984A>G (p.Ile662Val) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:25741868|PMID:28492532 10041316 CV186094 NM_000077.5(CDKN2A):c.142C>A (p.Pro48Thr) variant DOID:6846 familial melanoma IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:10338331|PMID:10491434|PMID:11058911|PMID:11556834|PMID:16470311|PMID:17625456|PMID:18299477|PMID:18363633|PMID:21462282|PMID:21672182|PMID:21893440|PMID:22841127|PMID:25023876|PMID:25741868|PMID:26681309|PMID:26775776|PMID:28492532|PMID:28830827|PMID:30274933|PMID:34664323|PMID:9168184 10041316 CV186094 NM_000077.5(CDKN2A):c.142C>A (p.Pro48Thr) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10338331|PMID:10491434|PMID:11058911|PMID:11556834|PMID:16470311|PMID:17625456|PMID:18299477|PMID:18363633|PMID:21462282|PMID:21672182|PMID:21893440|PMID:22841127|PMID:25023876|PMID:25741868|PMID:26681309|PMID:26775776|PMID:28492532|PMID:28830827|PMID:30274933|PMID:34664323|PMID:9168184 10041317 CV186067 NM_000245.4(MET):c.3065G>A (p.Arg1022Gln) variant DOID:4450 renal cell carcinoma IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Renal adenocarcinoma PMID:28492532 10041317 CV186067 NM_000245.4(MET):c.3065G>A (p.Arg1022Gln) variant DOID:9006972 Renal Cell Carcinoma 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:28492532 10041317 CV186067 NM_000245.4(MET):c.3065G>A (p.Arg1022Gln) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:28492532 10041318 CV186023 NM_001166108.2(PALLD):c.2353G>T (p.Asp785Tyr) variant DOID:4074 pancreatic adenocarcinoma IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma PMID:28492532 10041319 CV186095 NM_000077.5(CDKN2A):c.104G>A (p.Gly35Glu) variant DOID:6846 familial melanoma IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:12072543|PMID:12556369|PMID:15860862|PMID:17047042|PMID:19260062|PMID:19759551|PMID:21462282|PMID:22841127|PMID:24659262|PMID:25741868|PMID:25780468|PMID:26467025|PMID:28492532|PMID:28830827|PMID:8595405|PMID:9425228 10041319 CV186095 NM_000077.5(CDKN2A):c.104G>A (p.Gly35Glu) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:12072543|PMID:12556369|PMID:15860862|PMID:17047042|PMID:19260062|PMID:19759551|PMID:21462282|PMID:22841127|PMID:24659262|PMID:25741868|PMID:25780468|PMID:26467025|PMID:28492532|PMID:28830827|PMID:8595405|PMID:9425228 10041320 CV186090 NM_017780.4(CHD7):c.1488dup (p.Pro497fs) variant DOID:0050834 CHARGE syndrome IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: CHARGE association PMID:28492532 10041322 CV186285 NM_181882.3(PRX):c.3400G>T (p.Val1134Leu) variant DOID:0050541 Charcot-Marie-Tooth disease type 4 IAGP D RGD:8554872 20180724 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IV PMID:28492532 10041323 CV186236 NM_000135.4(FANCA):c.283+3A>C variant DOID:0111095 Fanconi anemia complementation group A IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:12955722|PMID:17576681|PMID:28492532|PMID:9536098 10041323 CV186236 NM_000135.4(FANCA):c.283+3A>C variant DOID:13636 Fanconi anemia IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:12955722|PMID:17576681|PMID:28492532|PMID:9536098 10041324 CV186096 NM_004629.2(FANCG):c.1747G>T (p.Glu583Ter) variant DOID:0111086 Fanconi anemia complementation group G IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group G PMID:10567393|PMID:10961856|PMID:23613520|PMID:28492532 10041324 CV186096 NM_004629.2(FANCG):c.1747G>T (p.Glu583Ter) variant DOID:13636 Fanconi anemia IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:10567393|PMID:10961856|PMID:23613520|PMID:28492532 10041325 CV186162 NM_001370298.3(FGD4):c.1078A>C (p.Asn360His) variant DOID:0050541 Charcot-Marie-Tooth disease type 4 IAGP D RGD:8554872 20180724 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IV PMID:28492532 10041325 CV186162 NM_001370298.3(FGD4):c.1078A>C (p.Asn360His) variant DOID:630 genetic disease IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10041326 CV186052 NM_024577.4(SH3TC2):c.2691C>G (p.Asn897Lys) variant DOID:0050541 Charcot-Marie-Tooth disease type 4 IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:25741868|PMID:26467025|PMID:28492532 10041326 CV186052 NM_024577.4(SH3TC2):c.2691C>G (p.Asn897Lys) variant DOID:0110183 Charcot-Marie-Tooth disease type 4C IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 4C PMID:25741868|PMID:26467025|PMID:28492532 10041326 CV186052 NM_024577.4(SH3TC2):c.2691C>G (p.Asn897Lys) variant DOID:10595 Charcot-Marie-Tooth disease IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:25741868|PMID:26467025|PMID:28492532 10041326 CV186052 NM_024577.4(SH3TC2):c.2691C>G (p.Asn897Lys) variant DOID:9005946 Mononeuropathy of the Median Nerve, Mild IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Mononeuropathy of the median nerve, mild PMID:25741868|PMID:26467025|PMID:28492532 10041327 CV186265 NM_058216.3(RAD51C):c.492T>G (p.Phe164Leu) variant DOID:0111096 Fanconi anemia complementation group O IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group O PMID:25085752|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28528518|PMID:30256826|PMID:31206626|PMID:31921681|PMID:33471991|PMID:35534704 10041327 CV186265 NM_058216.3(RAD51C):c.492T>G (p.Phe164Leu) variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 PMID:25085752|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28528518|PMID:30256826|PMID:31206626|PMID:31921681|PMID:33471991|PMID:35534704 10041327 CV186265 NM_058216.3(RAD51C):c.492T>G (p.Phe164Leu) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25085752|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28528518|PMID:30256826|PMID:31206626|PMID:31921681|PMID:33471991|PMID:35534704 10041328 CV186131 NM_001377.3(DYNC2H1):c.12556G>A (p.Glu4186Lys) variant DOID:0050592 asphyxiating thoracic dystrophy IAGP D RGD:8554872 20181023 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:28492532 10041329 CV186194 NM_015346.4(ZFYVE26):c.2887G>C (p.Val963Leu) variant DOID:0110768 hereditary spastic paraplegia 15 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 15 PMID:25741868|PMID:26467025|PMID:28492532 10041329 CV186194 NM_015346.4(ZFYVE26):c.2887G>C (p.Val963Leu) variant DOID:2476 hereditary spastic paraplegia IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:25741868|PMID:26467025|PMID:28492532 10041329 CV186194 NM_015346.4(ZFYVE26):c.2887G>C (p.Val963Leu) variant DOID:607 paraplegia IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:25741868|PMID:26467025|PMID:28492532 10041330 CV186022 NM_001166108.2(PALLD):c.1965-13000G>T variant DOID:4074 pancreatic adenocarcinoma IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Pancreatic adenocarcinoma PMID:28492532 10041331 CV186199 NM_025137.4(SPG11):c.7069C>T (p.Leu2357Phe) variant DOID:0110764 hereditary spastic paraplegia 11 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 11, autosomal recessive PMID:25174650|PMID:25741868|PMID:26467025|PMID:28492532 10041331 CV186199 NM_025137.4(SPG11):c.7069C>T (p.Leu2357Phe) variant DOID:2476 hereditary spastic paraplegia IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:25174650|PMID:25741868|PMID:26467025|PMID:28492532 10041331 CV186199 NM_025137.4(SPG11):c.7069C>T (p.Leu2357Phe) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25174650|PMID:25741868|PMID:26467025|PMID:28492532 10041332 CV186025 NM_000297.4(PKD2):c.70C>T (p.Pro24Ser) variant DOID:0110859 polycystic kidney disease 2 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: PKD2-related condition PMID:28492532 10041332 CV186025 NM_000297.4(PKD2):c.70C>T (p.Pro24Ser) variant DOID:898 autosomal dominant polycystic kidney disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:28492532 10041333 CV186263 NM_017777.4(MKS1):c.233T>G (p.Ile78Ser) variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 10041333 CV186263 NM_017777.4(MKS1):c.233T>G (p.Ile78Ser) variant DOID:0110135 Bardet-Biedl syndrome 13 IAGP D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 13 PMID:28492532 10041334 CV186130 NM_001377.3(DYNC2H1):c.10237C>G (p.Pro3413Ala) variant DOID:0050592 asphyxiating thoracic dystrophy IAGP D RGD:8554872 20181023 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:28492532 10041335 CV186064 NM_000245.4(MET):c.2198C>T (p.Thr733Ile) variant DOID:4450 renal cell carcinoma IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma PMID:26467025|PMID:28492532 10041335 CV186064 NM_000245.4(MET):c.2198C>T (p.Thr733Ile) variant DOID:9006972 Renal Cell Carcinoma 1 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:26467025|PMID:28492532 10041335 CV186064 NM_000245.4(MET):c.2198C>T (p.Thr733Ile) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:26467025|PMID:28492532 10041336 CV186191 NM_015346.4(ZFYVE26):c.7055C>T (p.Thr2352Ile) variant DOID:0110768 hereditary spastic paraplegia 15 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 15 PMID:25741868|PMID:26467025|PMID:28362824|PMID:28492532 10041336 CV186191 NM_015346.4(ZFYVE26):c.7055C>T (p.Thr2352Ile) variant DOID:2476 hereditary spastic paraplegia IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:25741868|PMID:26467025|PMID:28362824|PMID:28492532 10041336 CV186191 NM_015346.4(ZFYVE26):c.7055C>T (p.Thr2352Ile) variant DOID:607 paraplegia IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:25741868|PMID:26467025|PMID:28362824|PMID:28492532 10041337 CV186167 NM_000075.4(CDK4):c.886C>T (p.His296Tyr) variant DOID:6846 familial melanoma IAGP D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Familial melanoma PMID:25741868|PMID:26252490|PMID:28492532|PMID:31159747 10041337 CV186167 NM_000075.4(CDK4):c.886C>T (p.His296Tyr) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:25741868|PMID:26252490|PMID:28492532|PMID:31159747 10041338 CV186097 NM_000136.3(FANCC):c.626G>A (p.Arg209His) variant DOID:0111087 Fanconi anemia complementation group C IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group C PMID:25741868|PMID:26467025|PMID:28492532 10041338 CV186097 NM_000136.3(FANCC):c.626G>A (p.Arg209His) variant DOID:13636 Fanconi anemia IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:25741868|PMID:26467025|PMID:28492532 10041338 CV186097 NM_000136.3(FANCC):c.626G>A (p.Arg209His) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:26467025|PMID:28492532 10041339 CV186010 NM_153240.5(NPHP3):c.3941G>C (p.Ser1314Thr) variant DOID:0070121 Meckel syndrome 7 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Meckel syndrome type 7 PMID:12872122|PMID:25741868|PMID:28492532 10041339 CV186010 NM_153240.5(NPHP3):c.3941G>C (p.Ser1314Thr) variant DOID:0111112 nephronophthisis 1 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:12872122|PMID:25741868|PMID:28492532 10041339 CV186010 NM_153240.5(NPHP3):c.3941G>C (p.Ser1314Thr) variant DOID:0111114 nephronophthisis 3 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Nephronophthisis 3 PMID:12872122|PMID:25741868|PMID:28492532 10041339 CV186010 NM_153240.5(NPHP3):c.3941G>C (p.Ser1314Thr) variant DOID:12712 nephronophthisis IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872122|PMID:25741868|PMID:28492532 10041339 CV186010 NM_153240.5(NPHP3):c.3941G>C (p.Ser1314Thr) variant DOID:9001991 Renal-Hepatic-Pancreatic Dysplasia 1 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Renal-hepatic-pancreatic dysplasia 1 PMID:12872122|PMID:25741868|PMID:28492532 10041340 CV186078 NM_002047.4(GARS1):c.1568A>T (p.Asp523Val) variant DOID:0050539 Charcot-Marie-Tooth disease type 2 IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 PMID:28492532 10041341 CV186128 NM_001377.3(DYNC2H1):c.3500A>G (p.His1167Arg) variant DOID:0050592 asphyxiating thoracic dystrophy IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:28492532 10041341 CV186128 NM_001377.3(DYNC2H1):c.3500A>G (p.His1167Arg) variant DOID:0110087 asphyxiating thoracic dystrophy 3 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: DYNC2H1-related disorder PMID:28492532 10041342 CV186062 NM_000245.4(MET):c.1715G>A (p.Ser572Asn) variant DOID:4450 renal cell carcinoma IAGP D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma PMID:25741868|PMID:27666373|PMID:28492532 10041342 CV186062 NM_000245.4(MET):c.1715G>A (p.Ser572Asn) variant DOID:687 hepatoblastoma IAGP D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Hepatoblastoma PMID:25741868|PMID:27666373|PMID:28492532 10041342 CV186062 NM_000245.4(MET):c.1715G>A (p.Ser572Asn) variant DOID:9006972 Renal Cell Carcinoma 1 IAGP D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:25741868|PMID:27666373|PMID:28492532 10041342 CV186062 NM_000245.4(MET):c.1715G>A (p.Ser572Asn) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:27666373|PMID:28492532 10041343 CV186237 NM_000135.4(FANCA):c.97del (p.Glu33fs) variant DOID:0111095 Fanconi anemia complementation group A IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:19367192|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28717661 10041343 CV186237 NM_000135.4(FANCA):c.97del (p.Glu33fs) variant DOID:13636 Fanconi anemia IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:19367192|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28717661 10041344 CV186061 NM_000245.4(MET):c.1132G>A (p.Val378Ile) variant DOID:0110539 autosomal recessive nonsyndromic deafness 97 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 97 PMID:25741868|PMID:26887047|PMID:28492532 10041344 CV186061 NM_000245.4(MET):c.1132G>A (p.Val378Ile) variant DOID:4450 renal cell carcinoma IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma PMID:25741868|PMID:26887047|PMID:28492532 10041344 CV186061 NM_000245.4(MET):c.1132G>A (p.Val378Ile) variant DOID:684 hepatocellular carcinoma IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Hepatocellular cancer PMID:25741868|PMID:26887047|PMID:28492532 10041344 CV186061 NM_000245.4(MET):c.1132G>A (p.Val378Ile) variant DOID:9002127 Osteofibrous Dysplasia IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Tibia, bowing of, with pseudarthrosis and pectus excavatum PMID:25741868|PMID:26887047|PMID:28492532 10041344 CV186061 NM_000245.4(MET):c.1132G>A (p.Val378Ile) variant DOID:9002242 Distal Arthrogryposis Type 11 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 11 PMID:25741868|PMID:26887047|PMID:28492532 10041344 CV186061 NM_000245.4(MET):c.1132G>A (p.Val378Ile) variant DOID:9006972 Renal Cell Carcinoma 1 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:25741868|PMID:26887047|PMID:28492532 10041344 CV186061 NM_000245.4(MET):c.1132G>A (p.Val378Ile) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:26887047|PMID:28492532 10041345 CV186048 NM_001369.3(DNAH5):c.8757G>C (p.Glu2919Asp) variant DOID:0110599 primary ciliary dyskinesia 3 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 3 PMID:25741868|PMID:28492532 10041345 CV186048 NM_001369.3(DNAH5):c.8757G>C (p.Glu2919Asp) variant DOID:9562 primary ciliary dyskinesia IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:25741868|PMID:28492532 10041346 CV186046 NM_001369.3(DNAH5):c.9218A>G (p.Tyr3073Cys) variant DOID:9562 primary ciliary dyskinesia IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 10041347 CV186006 NM_015910.7(WDPCP):c.1315G>A (p.Val439Ile) variant DOID:0110137 Bardet-Biedl syndrome 15 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 15 PMID:28492532 10041347 CV186006 NM_015910.7(WDPCP):c.1315G>A (p.Val439Ile) variant DOID:0111591 congenital heart defects, hamartomas of tongue, and polysyndactyly IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: WDPCP-related condition PMID:28492532 10041347 CV186006 NM_015910.7(WDPCP):c.1315G>A (p.Val439Ile) variant DOID:1935 Bardet-Biedl syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 10041348 CV186165 NM_001370298.3(FGD4):c.2560G>A (p.Val854Met) variant DOID:0050541 Charcot-Marie-Tooth disease type 4 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 PMID:21376300|PMID:25741868|PMID:26467025|PMID:27582484|PMID:28492532|PMID:32376792|PMID:33305042|PMID:38255008 10041348 CV186165 NM_001370298.3(FGD4):c.2560G>A (p.Val854Met) variant DOID:0110192 Charcot-Marie-Tooth disease type 4H IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: FGD4-related condition PMID:21376300|PMID:25741868|PMID:26467025|PMID:27582484|PMID:28492532|PMID:32376792|PMID:33305042|PMID:38255008 10041348 CV186165 NM_001370298.3(FGD4):c.2560G>A (p.Val854Met) variant DOID:630 genetic disease IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21376300|PMID:25741868|PMID:26467025|PMID:27582484|PMID:28492532|PMID:32376792|PMID:33305042|PMID:38255008 10041349 CV186089 NM_006096.4(NDRG1):c.331A>C (p.Met111Leu) variant DOID:0050541 Charcot-Marie-Tooth disease type 4 IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:25741868|PMID:28492532 10041349 CV186089 NM_006096.4(NDRG1):c.331A>C (p.Met111Leu) variant DOID:0110186 Charcot-Marie-Tooth disease type 4D IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 4D PMID:25741868|PMID:28492532 10041349 CV186089 NM_006096.4(NDRG1):c.331A>C (p.Met111Leu) variant DOID:10595 Charcot-Marie-Tooth disease IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:25741868|PMID:28492532 10041349 CV186089 NM_006096.4(NDRG1):c.331A>C (p.Met111Leu) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10041350 CV185950 NM_014874.4(MFN2):c.1723C>T (p.Arg575Cys) variant DOID:0050539 Charcot-Marie-Tooth disease type 2 IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 PMID:28492532 10041351 CV186196 NM_015346.4(ZFYVE26):c.1184G>T (p.Gly395Val) variant DOID:0110768 hereditary spastic paraplegia 15 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 15 PMID:25741868|PMID:26467025|PMID:28492532 10041351 CV186196 NM_015346.4(ZFYVE26):c.1184G>T (p.Gly395Val) variant DOID:2476 hereditary spastic paraplegia IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:25741868|PMID:26467025|PMID:28492532 10041351 CV186196 NM_015346.4(ZFYVE26):c.1184G>T (p.Gly395Val) variant DOID:607 paraplegia IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:25741868|PMID:26467025|PMID:28492532 10041352 CV186235 NM_000135.4(FANCA):c.2839dup (p.Ser947fs) variant DOID:0111095 Fanconi anemia complementation group A IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group A PMID:19367192|PMID:25741868|PMID:28492532|PMID:29098742 10041352 CV186235 NM_000135.4(FANCA):c.2839dup (p.Ser947fs) variant DOID:13636 Fanconi anemia IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:19367192|PMID:25741868|PMID:28492532|PMID:29098742 10041354 CV186047 NM_001369.3(DNAH5):c.8998C>T (p.Arg3000Ter) variant DOID:0110599 primary ciliary dyskinesia 3 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: DNAH5-related condition PMID:11788826|PMID:16627867|PMID:22416021|PMID:28492532 10041354 CV186047 NM_001369.3(DNAH5):c.8998C>T (p.Arg3000Ter) variant DOID:9562 primary ciliary dyskinesia IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:11788826|PMID:16627867|PMID:22416021|PMID:28492532 10041355 CV185958 NM_015102.5(NPHP4):c.3574C>T (p.Arg1192Trp) variant DOID:0111112 nephronophthisis 1 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:15776426|PMID:22550138|PMID:25741868|PMID:26346198|PMID:28492532 10041355 CV185958 NM_015102.5(NPHP4):c.3574C>T (p.Arg1192Trp) variant DOID:0111115 nephronophthisis 4 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephronophthisis 4 PMID:15776426|PMID:22550138|PMID:25741868|PMID:26346198|PMID:28492532 10041355 CV185958 NM_015102.5(NPHP4):c.3574C>T (p.Arg1192Trp) variant DOID:12712 nephronophthisis IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:15776426|PMID:22550138|PMID:25741868|PMID:26346198|PMID:28492532 10041355 CV185958 NM_015102.5(NPHP4):c.3574C>T (p.Arg1192Trp) variant DOID:9000511 Senior-Loken Syndrome 4 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 4 PMID:15776426|PMID:22550138|PMID:25741868|PMID:26346198|PMID:28492532 10041356 CV186295 NM_003611.2(OFD1):c.(?_-1)_(*1_?)dup variant DOID:0060316 orofaciodigital syndrome I IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Orofaciodigital syndrome I 10041357 CV186021 NM_152618.3(BBS12):c.1139C>T (p.Thr380Ile) variant DOID:0110134 Bardet-Biedl syndrome 12 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 12 PMID:25741868|PMID:28492532 10041357 CV186021 NM_152618.3(BBS12):c.1139C>T (p.Thr380Ile) variant DOID:1935 Bardet-Biedl syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:25741868|PMID:28492532 10041358 CV186164 NM_001370298.3(FGD4):c.2122C>A (p.Pro708Thr) variant DOID:0050541 Charcot-Marie-Tooth disease type 4 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 PMID:25741868|PMID:26467025|PMID:27231023|PMID:28492532 10041358 CV186164 NM_001370298.3(FGD4):c.2122C>A (p.Pro708Thr) variant DOID:0110192 Charcot-Marie-Tooth disease type 4H IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: FGD4-related condition PMID:25741868|PMID:26467025|PMID:27231023|PMID:28492532 10041358 CV186164 NM_001370298.3(FGD4):c.2122C>A (p.Pro708Thr) variant DOID:10595 Charcot-Marie-Tooth disease IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:25741868|PMID:26467025|PMID:27231023|PMID:28492532 10041358 CV186164 NM_001370298.3(FGD4):c.2122C>A (p.Pro708Thr) variant DOID:630 genetic disease IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:27231023|PMID:28492532 10041359 CV186262 NM_017777.4(MKS1):c.1408-34_1408-6del variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16415886|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:23351400|PMID:25741868|PMID:27377014|PMID:28492532|PMID:9536098 10041359 CV186262 NM_017777.4(MKS1):c.1408-34_1408-6del variant DOID:0050778 Meckel syndrome IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:16415886|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:23351400|PMID:25741868|PMID:27377014|PMID:28492532|PMID:9536098 10041359 CV186262 NM_017777.4(MKS1):c.1408-34_1408-6del variant DOID:0070115 Meckel syndrome 1 IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 1 PMID:16415886|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:23351400|PMID:25741868|PMID:27377014|PMID:28492532|PMID:9536098 10041359 CV186262 NM_017777.4(MKS1):c.1408-34_1408-6del variant DOID:0110135 Bardet-Biedl syndrome 13 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 13 PMID:16415886|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:23351400|PMID:25741868|PMID:27377014|PMID:28492532|PMID:9536098 10041359 CV186262 NM_017777.4(MKS1):c.1408-34_1408-6del variant DOID:0110980 Joubert syndrome 1 IAGP D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:16415886|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:23351400|PMID:25741868|PMID:27377014|PMID:28492532|PMID:9536098 10041359 CV186262 NM_017777.4(MKS1):c.1408-34_1408-6del variant DOID:0110997 Joubert Syndrome 28 IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Joubert syndrome 28 PMID:16415886|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:23351400|PMID:25741868|PMID:27377014|PMID:28492532|PMID:9536098 10041359 CV186262 NM_017777.4(MKS1):c.1408-34_1408-6del variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16415886|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:23351400|PMID:25741868|PMID:27377014|PMID:28492532|PMID:9536098 10041361 CV186701 NM_000288.4(PEX7):c.400G>A (p.Asp134Asn) variant DOID:0081438 Peroxisome biogenesis disorder 9B IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 9B PMID:11781871|PMID:25741868 10041361 CV186701 NM_000288.4(PEX7):c.400G>A (p.Asp134Asn) variant DOID:0110851 rhizomelic chondrodysplasia punctata type 1 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata type 1 PMID:11781871|PMID:25741868 10041362 CV186893 NM_000053.4(ATP7B):c.2804C>T (p.Thr935Met) variant DOID:893 Wilson disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Wilson disease PMID:10447265|PMID:11405812|PMID:11775208|PMID:12756138|PMID:14986826|PMID:16649058|PMID:17680703|PMID:17949296|PMID:18034201|PMID:21796144|PMID:22692182|PMID:23607698|PMID:24033266|PMID:24476933|PMID:25741868|PMID:25825851|PMID:26032686|PMID:26483271|PMID:27022412|PMID:27398169|PMID:27982432|PMID:27982462|PMID:28123513|PMID:28492532|PMID:30655162|PMID:33668890|PMID:9829905 10041363 CV187026 NM_000271.5(NPC1):c.2819C>T (p.Ser940Leu) variant DOID:0070113 Niemann-Pick disease type C1 IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C1 PMID:10521290|PMID:11349231|PMID:16126423|PMID:16720792|PMID:19744920|PMID:21245028|PMID:23146215|PMID:25425405|PMID:25741868|PMID:26666848|PMID:26790753|PMID:26981555|PMID:28105569|PMID:28492532|PMID:28710748|PMID:30285904|PMID:32138288|PMID:32732226|PMID:34712575 10041364 CV186674 NM_000187.4(HGD):c.11T>A (p.Leu4Ter) variant DOID:9270 alkaptonuria IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:16085442|PMID:19862842|PMID:25741868|PMID:28492532 10041365 CV186629 NM_000016.6(ACADM):c.387+1del variant DOID:0080153 medium chain acyl-CoA dehydrogenase deficiency IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Medium-chain acyl-coenzyme A dehydrogenase deficiency PMID:15832312|PMID:16121256|PMID:16199547|PMID:16291504|PMID:16763904|PMID:20036593|PMID:20434380|PMID:23028790|PMID:25741868|PMID:26467025|PMID:27308838|PMID:27477829|PMID:28492532|PMID:31033143 10041366 CV186888 NM_000053.4(ATP7B):c.3053C>T (p.Ala1018Val) variant DOID:893 Wilson disease IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Wilson disease PMID:10502776|PMID:15967699|PMID:17154398|PMID:17949296|PMID:18034201|PMID:18728530|PMID:22677543|PMID:22692182|PMID:23486543|PMID:24146181|PMID:24718822|PMID:25741868|PMID:27022412|PMID:28492532|PMID:30884209|PMID:31059521|PMID:33640437|PMID:34400371|PMID:35245129|PMID:35535059|PMID:37157876|PMID:9671269 10041367 CV186894 NM_000053.4(ATP7B):c.2731-2A>G variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19371217|PMID:22677543|PMID:23518715|PMID:24094725|PMID:25741868|PMID:28492532|PMID:9311736 10041367 CV186894 NM_000053.4(ATP7B):c.2731-2A>G variant DOID:893 Wilson disease IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Wilson disease PMID:19371217|PMID:22677543|PMID:23518715|PMID:24094725|PMID:25741868|PMID:28492532|PMID:9311736 10041368 CV94515 NM_000053.4(ATP7B):c.3402del (p.Ala1135fs) variant DOID:630 genetic disease IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10441329|PMID:10447265|PMID:10502777|PMID:10994503|PMID:11093740|PMID:11690702|PMID:11857545|PMID:12557139|PMID:12955875|PMID:15024742|PMID:15952988|PMID:15967699|PMID:16207219|PMID:16283883|PMID:16791614|PMID:17897870|PMID:18855987|PMID:20082719|PMID:23518715|PMID:23789284|PMID:23982005|PMID:25497208|PMID:25741868|PMID:26819605|PMID:27941192|PMID:28492532|PMID:30230192|PMID:31708252|PMID:32043565|PMID:32067425|PMID:34400371|PMID:35169583|PMID:7626145|PMID:8298640|PMID:8298641|PMID:8533760|PMID:8938442|PMID:9311736|PMID:9887381 10041368 CV94515 NM_000053.4(ATP7B):c.3402del (p.Ala1135fs) variant DOID:893 Wilson disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Wilson disease PMID:10441329|PMID:10447265|PMID:10502777|PMID:10994503|PMID:11093740|PMID:11690702|PMID:11857545|PMID:12557139|PMID:12955875|PMID:15024742|PMID:15952988|PMID:15967699|PMID:16207219|PMID:16283883|PMID:16791614|PMID:17897870|PMID:18855987|PMID:20082719|PMID:23518715|PMID:23789284|PMID:23982005|PMID:25497208|PMID:25741868|PMID:26819605|PMID:27941192|PMID:28492532|PMID:30230192|PMID:31708252|PMID:32043565|PMID:32067425|PMID:34400371|PMID:35169583|PMID:7626145|PMID:8298640|PMID:8298641|PMID:8533760|PMID:8938442|PMID:9311736|PMID:9887381 10041370 CV186689 NM_000128.4(F11):c.1075del (p.Ile359fs) variant DOID:2229 factor XI deficiency IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Plasma factor XI deficiency PMID:11127865|PMID:18024374|PMID:23929304|PMID:25741868|PMID:28492532 10041371 CV186750 NM_000466.3(PEX1):c.2926+1G>A variant DOID:0050444 infantile Refsum disease IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Infantile form of phytanic acid storage disease PMID:15542397|PMID:16199547|PMID:19105186|PMID:21031596|PMID:25741868|PMID:26387595|PMID:28492532|PMID:31831025|PMID:9398847|PMID:9398848 10041371 CV186750 NM_000466.3(PEX1):c.2926+1G>A variant DOID:0080476 peroxisome biogenesis disorder 1A IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1a PMID:15542397|PMID:16199547|PMID:19105186|PMID:21031596|PMID:25741868|PMID:26387595|PMID:28492532|PMID:31831025|PMID:9398847|PMID:9398848 10041371 CV186750 NM_000466.3(PEX1):c.2926+1G>A variant DOID:0080623 Heimler syndrome 1 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 1C PMID:15542397|PMID:16199547|PMID:19105186|PMID:21031596|PMID:25741868|PMID:26387595|PMID:28492532|PMID:31831025|PMID:9398847|PMID:9398848 10041371 CV186750 NM_000466.3(PEX1):c.2926+1G>A variant DOID:0081240 peroxisome biogenesis disorder 1B IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1B PMID:15542397|PMID:16199547|PMID:19105186|PMID:21031596|PMID:25741868|PMID:26387595|PMID:28492532|PMID:31831025|PMID:9398847|PMID:9398848 10041371 CV186750 NM_000466.3(PEX1):c.2926+1G>A variant DOID:630 genetic disease IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15542397|PMID:16199547|PMID:19105186|PMID:21031596|PMID:25741868|PMID:26387595|PMID:28492532|PMID:31831025|PMID:9398847|PMID:9398848 10041371 CV186750 NM_000466.3(PEX1):c.2926+1G>A variant DOID:9006420 Zellweger Leukodystrophy IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Zellweger leukodystrophy PMID:15542397|PMID:16199547|PMID:19105186|PMID:21031596|PMID:25741868|PMID:26387595|PMID:28492532|PMID:31831025|PMID:9398847|PMID:9398848 10041371 CV186750 NM_000466.3(PEX1):c.2926+1G>A variant DOID:905 Zellweger syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Zellweger Spectrum PMID:15542397|PMID:16199547|PMID:19105186|PMID:21031596|PMID:25741868|PMID:26387595|PMID:28492532|PMID:31831025|PMID:9398847|PMID:9398848 10041372 CV186899 NM_000053.4(ATP7B):c.2513del (p.Lys838fs) variant DOID:893 Wilson disease IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Wilson disease PMID:10441329|PMID:10453196|PMID:10721669|PMID:10790207|PMID:12376745|PMID:16283883|PMID:16998287|PMID:25741868|PMID:28492532 10041373 CV186982 NM_000023.4(SGCA):c.371T>C (p.Ile124Thr) variant DOID:0110278 autosomal recessive limb-girdle muscular dystrophy type 2D IAGP D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2D PMID:10993494|PMID:11121445|PMID:14595658|PMID:18996010|PMID:19798725|PMID:22095924|PMID:25741868|PMID:28492532|PMID:9032047|PMID:9192266 10041374 CV187049 NM_004646.4(NPHS1):c.2335-1G>A variant DOID:0080390 nephrotic syndrome type 1 IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome PMID:11317351|PMID:11854170|PMID:12039988|PMID:16199547|PMID:20507940|PMID:23949594|PMID:24902943|PMID:25741868|PMID:26467025|PMID:28117080|PMID:28492532|PMID:29676031|PMID:33089377|PMID:9915943 10041375 CV186669 NM_000187.4(HGD):c.1336T>C (p.Ter446Arg) variant DOID:9270 alkaptonuria IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:19862842|PMID:25741868 10041376 CV186656 NM_000030.3(AGXT):c.481G>T (p.Gly161Cys) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:15963748|PMID:17495019|PMID:19479957|PMID:22018727|PMID:24055001|PMID:24718375|PMID:25620715|PMID:25629080|PMID:25741868|PMID:26149463|PMID:28492532|PMID:28893421 10041377 CV186775 NM_000035.4(ALDOB):c.1013C>T (p.Ala338Val) variant DOID:5204 fructose-1,6-bisphosphatase deficiency IAGP D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Fructose-1-phosphate aldolase deficiency PMID:10024431|PMID:10229688|PMID:11757579|PMID:12205126|PMID:15532022|PMID:15880727|PMID:18541450|PMID:20033295|PMID:20848650|PMID:23430936|PMID:25595217|PMID:25741868|PMID:28492532|PMID:32860008|PMID:34162028|PMID:9610797 10041377 CV186775 NM_000035.4(ALDOB):c.1013C>T (p.Ala338Val) variant DOID:9869 hereditary fructose intolerance syndrome IAGP D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Fructose-1,6-bisphosphate aldolase B deficiency PMID:10024431|PMID:10229688|PMID:11757579|PMID:12205126|PMID:15532022|PMID:15880727|PMID:18541450|PMID:20033295|PMID:20848650|PMID:23430936|PMID:25595217|PMID:25741868|PMID:28492532|PMID:32860008|PMID:34162028|PMID:9610797 10041378 CV186614 NM_000228.3(LAMB3):c.29-2A>G variant DOID:0060737 junctional epidermolysis bullosa Herlitz type IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of Herlitz PMID:11023379|PMID:16199547|PMID:16473856|PMID:21801158|PMID:28492532 10041379 CV186638 NM_000642.3(AGL):c.100C>T (p.Arg34Ter) variant DOID:2748 glycogen storage disease III IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Glycogen storage disease type III PMID:11924557|PMID:11977176|PMID:19299494|PMID:20648714|PMID:24495762|PMID:25741868|PMID:26984562|PMID:28492532|PMID:33083013|PMID:34820282 10041380 CV186952 NM_000303.3(PMM2):c.24del (p.Cys9fs) variant DOID:0080552 congenital disorder of glycosylation Ia IAGP D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Ia PMID:11058895|PMID:11715002|PMID:12297897|PMID:12529711|PMID:15844218|PMID:18093857|PMID:19168813|PMID:19862844|PMID:25741868|PMID:28492532 10041381 CV187020 NM_000271.5(NPC1):c.3614C>A (p.Thr1205Lys) variant DOID:0070113 Niemann-Pick disease type C1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C1 PMID:11182931|PMID:12955717|PMID:16138904|PMID:19206179|PMID:19252935|PMID:22676771|PMID:22704015|PMID:23430855|PMID:25236789|PMID:25741868|PMID:27581084|PMID:28492532 10041382 CV186631 NM_000016.6(ACADM):c.850-2A>G variant DOID:0080153 medium chain acyl-CoA dehydrogenase deficiency IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Medium-chain acyl-coenzyme A dehydrogenase deficiency PMID:15832312|PMID:16121256|PMID:16199547|PMID:20434380|PMID:28492532 10041383 CV186896 NM_000053.4(ATP7B):c.2575+1G>C variant DOID:893 Wilson disease IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Wilson disease PMID:10441329|PMID:11690702|PMID:16199547|PMID:16283883|PMID:23518715|PMID:25525159|PMID:25741868|PMID:28492532|PMID:31059521|PMID:7626145 10041384 CV186943 NM_000137.4(FAH):c.520C>T (p.Arg174Ter) variant DOID:0050726 tyrosinemia type I IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Tyrosinemia type I PMID:12555948|PMID:23225041|PMID:23430822|PMID:25741868|PMID:28492532|PMID:8723690|PMID:9101289|PMID:9633815 10041385 CV186836 NM_024649.5(BBS1):c.436C>T (p.Arg146Ter) variant DOID:0110123 Bardet-Biedl syndrome 1 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 PMID:12118255|PMID:12677556|PMID:12920096|PMID:18327255|PMID:20177705|PMID:21052717|PMID:21520335|PMID:23432027|PMID:25525159|PMID:25741868|PMID:27032803|PMID:28492532|PMID:30614526|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32531858|PMID:35835773|PMID:35886001 10041385 CV186836 NM_024649.5(BBS1):c.436C>T (p.Arg146Ter) variant DOID:1935 Bardet-Biedl syndrome IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:12677556|PMID:12920096|PMID:18327255|PMID:20177705|PMID:21052717|PMID:21520335|PMID:23432027|PMID:25525159|PMID:25741868|PMID:27032803|PMID:28492532|PMID:30614526|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32531858|PMID:35835773|PMID:35886001 10041385 CV186836 NM_024649.5(BBS1):c.436C>T (p.Arg146Ter) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:12118255|PMID:12677556|PMID:12920096|PMID:18327255|PMID:20177705|PMID:21052717|PMID:21520335|PMID:23432027|PMID:25525159|PMID:25741868|PMID:27032803|PMID:28492532|PMID:30614526|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32531858|PMID:35835773|PMID:35886001 10041386 CV186627 NM_000098.3(CPT2):c.1369A>T (p.Lys457Ter) variant DOID:0060235 carnitine palmitoyltransferase II deficiency IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency PMID:16781677|PMID:16996287|PMID:24517888|PMID:25741868|PMID:28492532|PMID:30094188|PMID:33123633|PMID:34449523 10041386 CV186627 NM_000098.3(CPT2):c.1369A>T (p.Lys457Ter) variant DOID:630 genetic disease IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16781677|PMID:16996287|PMID:24517888|PMID:25741868|PMID:28492532|PMID:30094188|PMID:33123633|PMID:34449523 10041386 CV186627 NM_000098.3(CPT2):c.1369A>T (p.Lys457Ter) variant DOID:9001501 Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: CPT2 DEFICIENCY, LETHAL NEONATAL PMID:16781677|PMID:16996287|PMID:24517888|PMID:25741868|PMID:28492532|PMID:30094188|PMID:33123633|PMID:34449523 10041386 CV186627 NM_000098.3(CPT2):c.1369A>T (p.Lys457Ter) variant DOID:9007623 Late-Onset Carnitine Palmitoyltransferase II Deficiency IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, late-onset PMID:16781677|PMID:16996287|PMID:24517888|PMID:25741868|PMID:28492532|PMID:30094188|PMID:33123633|PMID:34449523 10041386 CV186627 NM_000098.3(CPT2):c.1369A>T (p.Lys457Ter) variant DOID:9007668 Carnitine Palmitoyltransferase II Deficiency, Infantile IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, infantile PMID:16781677|PMID:16996287|PMID:24517888|PMID:25741868|PMID:28492532|PMID:30094188|PMID:33123633|PMID:34449523 10041386 CV186627 NM_000098.3(CPT2):c.1369A>T (p.Lys457Ter) variant DOID:9009375 Encephalopathy, acute, infection-induced, 4 IAGP D RGD:8554872 20250821 ClinVar ClinVar Annotator: match by term: CPT2-related disorder PMID:16781677|PMID:16996287|PMID:24517888|PMID:25741868|PMID:28492532|PMID:30094188|PMID:33123633|PMID:34449523 10041386 CV186627 NM_000098.3(CPT2):c.1369A>T (p.Lys457Ter) variant DOID:936 brain disease IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced, susceptibility to, 4 PMID:16781677|PMID:16996287|PMID:24517888|PMID:25741868|PMID:28492532|PMID:30094188|PMID:33123633|PMID:34449523 10041387 CV186944 NM_000137.4(FAH):c.607-1G>A variant DOID:0050726 tyrosinemia type I IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Tyrosinemia type I PMID:16199547|PMID:25741868|PMID:28492532|PMID:8557261|PMID:9101289|PMID:9633815 10041389 CV186691 NM_000128.4(F11):c.1186C>T (p.Arg396Cys) variant DOID:2229 factor XI deficiency IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary factor XI deficiency disease PMID:16835901|PMID:17549289|PMID:19652879|PMID:21192253|PMID:25741868 10041390 CV187048 NM_004646.4(NPHS1):c.2928G>T (p.Arg976Ser) variant DOID:0080390 nephrotic syndrome type 1 IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome PMID:18614772|PMID:19812541|PMID:20172850|PMID:20507940|PMID:21415313|PMID:24742477|PMID:24902943|PMID:25741868|PMID:27019444|PMID:28492532|PMID:29474669 10041390 CV187048 NM_004646.4(NPHS1):c.2928G>T (p.Arg976Ser) variant DOID:0111128 focal segmental glomerulosclerosis 1 IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Focal sclerosis with hyalinosis PMID:18614772|PMID:19812541|PMID:20172850|PMID:20507940|PMID:21415313|PMID:24742477|PMID:24902943|PMID:25741868|PMID:27019444|PMID:28492532|PMID:29474669 10041390 CV187048 NM_004646.4(NPHS1):c.2928G>T (p.Arg976Ser) variant DOID:1184 nephrotic syndrome IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:18614772|PMID:19812541|PMID:20172850|PMID:20507940|PMID:21415313|PMID:24742477|PMID:24902943|PMID:25741868|PMID:27019444|PMID:28492532|PMID:29474669 10041390 CV187048 NM_004646.4(NPHS1):c.2928G>T (p.Arg976Ser) variant DOID:1312 focal segmental glomerulosclerosis IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:18614772|PMID:19812541|PMID:20172850|PMID:20507940|PMID:21415313|PMID:24742477|PMID:24902943|PMID:25741868|PMID:27019444|PMID:28492532|PMID:29474669 10041391 CV186953 NM_000303.3(PMM2):c.470T>C (p.Phe157Ser) variant DOID:0080552 congenital disorder of glycosylation Ia IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Ia PMID:10527672|PMID:11156536|PMID:12607543|PMID:12705494|PMID:15645285|PMID:17166182|PMID:17920054|PMID:19357119|PMID:19396570|PMID:21541725|PMID:22012410|PMID:24739649|PMID:25355454|PMID:25497157|PMID:25741868|PMID:26502900|PMID:28492532|PMID:33340551|PMID:33413482|PMID:35279850 10041391 CV186953 NM_000303.3(PMM2):c.470T>C (p.Phe157Ser) variant DOID:630 genetic disease IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10527672|PMID:11156536|PMID:12607543|PMID:12705494|PMID:15645285|PMID:17166182|PMID:17920054|PMID:19357119|PMID:19396570|PMID:21541725|PMID:22012410|PMID:24739649|PMID:25355454|PMID:25497157|PMID:25741868|PMID:26502900|PMID:28492532|PMID:33340551|PMID:33413482|PMID:35279850 10041392 CV186610 NM_000228.3(LAMB3):c.1705C>T (p.Arg569Ter) variant DOID:0060737 junctional epidermolysis bullosa Herlitz type IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of Herlitz PMID:11023379|PMID:12813757|PMID:15725250|PMID:16473856|PMID:25741868|PMID:28087116|PMID:28492532|PMID:29334134|PMID:8824879 10041392 CV186610 NM_000228.3(LAMB3):c.1705C>T (p.Arg569Ter) variant DOID:0060738 junctional epidermolysis bullosa non-Herlitz type IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type PMID:11023379|PMID:12813757|PMID:15725250|PMID:16473856|PMID:25741868|PMID:28087116|PMID:28492532|PMID:29334134|PMID:8824879 10041392 CV186610 NM_000228.3(LAMB3):c.1705C>T (p.Arg569Ter) variant DOID:0110054 amelogenesis imperfecta type 1A IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta type 1A PMID:11023379|PMID:12813757|PMID:15725250|PMID:16473856|PMID:25741868|PMID:28087116|PMID:28492532|PMID:29334134|PMID:8824879 10041394 CV186957 NM_000382.3(ALDH3A2):c.551C>T (p.Thr184Met) variant DOID:14501 Sjogren-Larsson syndrome IAGP D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: Sjögren-Larsson syndrome PMID:10577908|PMID:11408337|PMID:17998529|PMID:19124283|PMID:25741868|PMID:28492532 10041395 CV187023 NM_000271.5(NPC1):c.3175C>T (p.Arg1059Ter) variant DOID:0070113 Niemann-Pick disease type C1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C1 PMID:16098014|PMID:17160617|PMID:19223215|PMID:25131710|PMID:26666848|PMID:28492532|PMID:9211850 10041398 CV186661 NM_000030.3(AGXT):c.777-1G>C variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:15110324|PMID:15464418|PMID:15963748|PMID:16199547|PMID:17460142|PMID:18282470|PMID:19479957|PMID:25629080|PMID:25741868|PMID:28492532 10041398 CV186661 NM_000030.3(AGXT):c.777-1G>C variant DOID:2977 primary hyperoxaluria IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria PMID:15110324|PMID:15464418|PMID:15963748|PMID:16199547|PMID:17460142|PMID:18282470|PMID:19479957|PMID:25629080|PMID:25741868|PMID:28492532 10041399 CV186650 NM_000030.3(AGXT):c.33del (p.Lys12fs) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:10453743|PMID:11562405|PMID:15963748|PMID:16850020|PMID:17495019|PMID:19479957|PMID:25741868|PMID:26383609|PMID:28492532 10041399 CV186650 NM_000030.3(AGXT):c.33del (p.Lys12fs) variant DOID:2977 primary hyperoxaluria IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria PMID:10453743|PMID:11562405|PMID:15963748|PMID:16850020|PMID:17495019|PMID:19479957|PMID:25741868|PMID:26383609|PMID:28492532 10041400 CV186978 NM_000151.4(G6PC1):c.969C>A (p.Tyr323Ter) variant DOID:0081329 glycogen storage disease I IAGP D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphatase deficiency PMID:10070617|PMID:11949931|PMID:23046672|PMID:25741868|PMID:28397058|PMID:28492532|PMID:31508908|PMID:34258141|PMID:7573034|PMID:8182131|PMID:8733042 10041400 CV186978 NM_000151.4(G6PC1):c.969C>A (p.Tyr323Ter) variant DOID:2749 glycogen storage disease Ia IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphatase deficiency PMID:10070617|PMID:11949931|PMID:23046672|PMID:25741868|PMID:28397058|PMID:28492532|PMID:31508908|PMID:34258141|PMID:7573034|PMID:8182131|PMID:8733042 10041401 CV186832 NM_005609.4(PYGM):c.78_79del (p.Glu27fs) variant DOID:2746 glycogen storage disease V IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:15979037|PMID:16786513|PMID:17404776|PMID:18067156|PMID:19670320|PMID:25741868|PMID:28492532|PMID:8316268 10041402 CV186779 NM_000035.4(ALDOB):c.324G>A (p.Lys108=) variant DOID:5204 fructose-1,6-bisphosphatase deficiency IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Fructose-1-phosphate aldolase deficiency PMID:12205126|PMID:15532022|PMID:17576681|PMID:18541450|PMID:20848650|PMID:25525159|PMID:25741868|PMID:28492532|PMID:9536098 10041402 CV186779 NM_000035.4(ALDOB):c.324G>A (p.Lys108=) variant DOID:9869 hereditary fructose intolerance syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Fructose-1,6-bisphosphate aldolase B deficiency PMID:12205126|PMID:15532022|PMID:17576681|PMID:18541450|PMID:20848650|PMID:25525159|PMID:25741868|PMID:28492532|PMID:9536098 10041403 CV186769 NM_019098.5(CNGB3):c.644-1G>C variant DOID:0110008 achromatopsia 3 IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Total colorblindness with myopia PMID:15657609|PMID:16199547|PMID:25616768|PMID:25741868|PMID:28492532|PMID:28795510|PMID:34703197 10041403 CV186769 NM_019098.5(CNGB3):c.644-1G>C variant DOID:13911 achromatopsia IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Achromatopsia PMID:15657609|PMID:16199547|PMID:25616768|PMID:25741868|PMID:28492532|PMID:28795510|PMID:34703197 10041404 CV186889 NM_000053.4(ATP7B):c.3008C>T (p.Ala1003Val) variant DOID:893 Wilson disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Wilson disease PMID:10502776|PMID:10544227|PMID:12885331|PMID:17264425|PMID:17823867|PMID:21610751|PMID:22484412|PMID:22692182|PMID:23333878|PMID:23518715|PMID:24094725|PMID:25741868|PMID:25982861|PMID:26207595|PMID:26799313|PMID:28492532|PMID:30120852|PMID:31059521 10041405 CV186777 NM_000035.4(ALDOB):c.612T>A (p.Tyr204Ter) variant DOID:5204 fructose-1,6-bisphosphatase deficiency IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Fructose-1-phosphate aldolase deficiency PMID:15880727|PMID:16406649|PMID:16630753|PMID:18541450|PMID:20848650|PMID:23114028|PMID:25741868|PMID:28492532|PMID:8438046 10041405 CV186777 NM_000035.4(ALDOB):c.612T>A (p.Tyr204Ter) variant DOID:9869 hereditary fructose intolerance syndrome IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Fructose-1,6-bisphosphate aldolase B deficiency PMID:15880727|PMID:16406649|PMID:16630753|PMID:18541450|PMID:20848650|PMID:23114028|PMID:25741868|PMID:28492532|PMID:8438046 10041406 CV186966 NM_000049.4(ASPA):c.820G>A (p.Gly274Arg) variant DOID:3613 Canavan disease IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Spongy degeneration of central nervous system PMID:10407784|PMID:16138249|PMID:17194761|PMID:17391648|PMID:17999961|PMID:22219087|PMID:22850825|PMID:23233226|PMID:25741868|PMID:27457812|PMID:28492532|PMID:31839386|PMID:7668285 10041407 CV186949 NM_000057.4(BLM):c.2250_2251insAAAT (p.Leu751fs) variant DOID:2717 Bloom syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:17407155|PMID:25129257|PMID:25741868|PMID:28492532|PMID:29478780|PMID:31816118 10041407 CV186949 NM_000057.4(BLM):c.2250_2251insAAAT (p.Leu751fs) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17407155|PMID:25129257|PMID:25741868|PMID:28492532|PMID:29478780|PMID:31816118 10041408 CV186608 NM_005562.3(LAMC2):c.667C>T (p.Arg223Ter) variant DOID:0060737 junctional epidermolysis bullosa Herlitz type IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of Herlitz PMID:11907499|PMID:15373767|PMID:16473856|PMID:17916201|PMID:25741868|PMID:28492532 10041408 CV186608 NM_005562.3(LAMC2):c.667C>T (p.Arg223Ter) variant DOID:9001267 Junctional Epidermolysis Bullosa 3A, Intermediate IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa, junctional 3A, intermediate PMID:11907499|PMID:15373767|PMID:16473856|PMID:17916201|PMID:25741868|PMID:28492532 10041409 CV187031 NM_000271.5(NPC1):c.1211G>A (p.Arg404Gln) variant DOID:0070113 Niemann-Pick disease type C1 IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C PMID:11333381|PMID:11349231|PMID:11545687|PMID:12955717|PMID:19744920|PMID:22065762|PMID:25741868|PMID:26666848|PMID:26981555|PMID:27139891|PMID:27581084|PMID:28492532 10041410 CV186684 NM_000128.4(F11):c.682C>T (p.Arg228Ter) variant DOID:2229 factor XI deficiency IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary factor XI deficiency disease PMID:14717969|PMID:23929304|PMID:25741868|PMID:28492532 10041411 CV186789 NM_005476.7(GNE):c.612G>A (p.Trp204Ter) variant DOID:0080718 GNE myopathy IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: GNE myopathy PMID:20059379|PMID:24027297|PMID:25741868|PMID:28492532 10041412 CV187065 NM_000383.4(AIRE):c.463+2T>C variant DOID:0050167 autoimmune polyendocrine syndrome type 1 IAGP D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 PMID:11524731|PMID:16199547|PMID:17189144|PMID:17220063|PMID:25741868|PMID:26141571|PMID:28492532|PMID:35753512|PMID:9921903 10041413 CV186890 NM_000053.4(ATP7B):c.3007G>A (p.Ala1003Thr) variant DOID:1827 generalized epilepsy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:10790207|PMID:11243728|PMID:11690702|PMID:12885331|PMID:15811015|PMID:16207219|PMID:16684691|PMID:16791614|PMID:17433323|PMID:21610751|PMID:22692182|PMID:23518715|PMID:23551039|PMID:23789284|PMID:24661374|PMID:25390358|PMID:25741868|PMID:2679931|PMID:26799313|PMID:27022412|PMID:27398169|PMID:28492532|PMID:30120852|PMID:9671269 10041413 CV186890 NM_000053.4(ATP7B):c.3007G>A (p.Ala1003Thr) variant DOID:893 Wilson disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Wilson disease PMID:10790207|PMID:11243728|PMID:11690702|PMID:12885331|PMID:15811015|PMID:16207219|PMID:16684691|PMID:16791614|PMID:17433323|PMID:21610751|PMID:22692182|PMID:23518715|PMID:23551039|PMID:23789284|PMID:24661374|PMID:25390358|PMID:25741868|PMID:2679931|PMID:26799313|PMID:27022412|PMID:27398169|PMID:28492532|PMID:30120852|PMID:9671269 10041414 CV186967 NM_000049.4(ASPA):c.859G>A (p.Ala287Thr) variant DOID:3613 Canavan disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spongy degeneration of central nervous system PMID:10407784|PMID:12638939|PMID:16854607|PMID:17194761|PMID:22019069|PMID:22878930|PMID:23233226|PMID:25741868|PMID:26992473|PMID:28492532 10041415 CV186643 NM_000642.3(AGL):c.2309-1G>A variant DOID:2748 glycogen storage disease III IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Glycogen storage disease type III PMID:16199547|PMID:19299494|PMID:20648714|PMID:25741868|PMID:27460348|PMID:28492532|PMID:34820282 10041415 CV186643 NM_000642.3(AGL):c.2309-1G>A variant DOID:9000150 Glycogen Storage Disease IIIA IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IIIa PMID:16199547|PMID:19299494|PMID:20648714|PMID:25741868|PMID:27460348|PMID:28492532|PMID:34820282 10041416 CV186829 NM_005609.4(PYGM):c.1797del (p.Phe599fs) variant DOID:2746 glycogen storage disease V IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:14748827|PMID:16786513|PMID:28492532|PMID:8316268 10041417 CV186885 NM_000053.4(ATP7B):c.3301G>A (p.Gly1101Arg) variant DOID:893 Wilson disease IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Wilson disease PMID:16567646|PMID:20333758|PMID:22046264|PMID:22692182|PMID:23551039|PMID:24094725|PMID:25741868|PMID:28492532|PMID:31059521|PMID:7626145 10041418 CV186681 NM_000128.4(F11):c.325G>A (p.Ala109Thr) variant DOID:2229 factor XI deficiency IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Plasma factor XI deficiency PMID:16835901|PMID:17576681|PMID:18327400|PMID:18446632|PMID:18515884|PMID:21824284|PMID:25158988|PMID:25741868|PMID:28492532|PMID:9536098 10041419 CV186981 NM_000023.4(SGCA):c.220C>T (p.Arg74Trp) variant DOID:0110274 autosomal recessive limb-girdle muscular dystrophy IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy PMID:10993494|PMID:15833425|PMID:18285821|PMID:24464767|PMID:25741868|PMID:28492532|PMID:29382405|PMID:30345904|PMID:31069529|PMID:9455986 10041419 CV186981 NM_000023.4(SGCA):c.220C>T (p.Arg74Trp) variant DOID:0110278 autosomal recessive limb-girdle muscular dystrophy type 2D IAGP D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2D PMID:10993494|PMID:15833425|PMID:18285821|PMID:24464767|PMID:25741868|PMID:28492532|PMID:29382405|PMID:30345904|PMID:31069529|PMID:9455986 10041421 CV186900 NM_000053.4(ATP7B):c.2383C>T (p.Leu795Phe) variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 PMID:17264425|PMID:22692182|PMID:23235335|PMID:23518715|PMID:23551039|PMID:2409472|PMID:24094725|PMID:24475083|PMID:25376582|PMID:25741868|PMID:26207595|PMID:27022412|PMID:27122662|PMID:28492532|PMID:30120852|PMID:34400371|PMID:34470610|PMID:9311736 10041421 CV186900 NM_000053.4(ATP7B):c.2383C>T (p.Leu795Phe) variant DOID:893 Wilson disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Wilson disease PMID:17264425|PMID:22692182|PMID:23235335|PMID:23518715|PMID:23551039|PMID:2409472|PMID:24094725|PMID:24475083|PMID:25376582|PMID:25741868|PMID:26207595|PMID:27022412|PMID:27122662|PMID:28492532|PMID:30120852|PMID:34400371|PMID:34470610|PMID:9311736 10041422 CV187050 NM_004646.4(NPHS1):c.565G>T (p.Glu189Ter) variant DOID:0080390 nephrotic syndrome type 1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome PMID:11317351|PMID:11854170|PMID:12039988|PMID:21672106|PMID:24682440|PMID:25741868|PMID:26467025|PMID:28492532 10041423 CV186637 NM_000642.3(AGL):c.94C>T (p.Gln32Ter) variant DOID:2748 glycogen storage disease III IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glycogen storage disease type III PMID:10655153|PMID:11949933|PMID:11977176|PMID:19299494|PMID:25741868|PMID:28492532 10041424 CV186644 NM_000642.3(AGL):c.3297G>A (p.Trp1099Ter) variant DOID:2748 glycogen storage disease III IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glycogen storage disease type III PMID:19299494|PMID:20648714|PMID:25741868|PMID:28492532 10041425 CV186698 NM_006261.5(PROP1):c.152G>C (p.Gly51Ala) variant DOID:0061020 combined pituitary hormone deficiency 2 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Pituitary hormone deficiency, combined 2 PMID:15670191|PMID:16544023|PMID:20981092|PMID:25741868|PMID:28492532 10041426 CV186770 NM_019098.5(CNGB3):c.391C>T (p.Gln131Ter) variant DOID:0110008 achromatopsia 3 IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Achromatopsia 3 PMID:15459792|PMID:15657609|PMID:15712225|PMID:25741868|PMID:28492532|PMID:28795510 10041426 CV186770 NM_019098.5(CNGB3):c.391C>T (p.Gln131Ter) variant DOID:13911 achromatopsia IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Achromatopsia PMID:15459792|PMID:15657609|PMID:15712225|PMID:25741868|PMID:28492532|PMID:28795510 10041427 CV186830 NM_005609.4(PYGM):c.808C>T (p.Arg270Ter) variant DOID:2746 glycogen storage disease V IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:11749054|PMID:12031624|PMID:14748827|PMID:16786513|PMID:17404776|PMID:18641458|PMID:19472443|PMID:24033266|PMID:25741868|PMID:28492532|PMID:8316268 10041428 CV186767 NM_019098.5(CNGB3):c.991-3T>G variant DOID:0110008 achromatopsia 3 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Achromatopsia 3 PMID:15459792|PMID:15657609|PMID:17576681|PMID:19592100|PMID:20079539|PMID:20574029|PMID:22975760|PMID:25525159|PMID:25741868|PMID:28492532|PMID:28795510|PMID:31589614|PMID:31964843|PMID:33749171|PMID:9536098 10041428 CV186767 NM_019098.5(CNGB3):c.991-3T>G variant DOID:14791 Leber congenital amaurosis IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:15459792|PMID:15657609|PMID:17576681|PMID:19592100|PMID:20079539|PMID:20574029|PMID:22975760|PMID:25525159|PMID:25741868|PMID:28492532|PMID:28795510|PMID:31589614|PMID:31964843|PMID:33749171|PMID:9536098 10041428 CV186767 NM_019098.5(CNGB3):c.991-3T>G variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:15459792|PMID:15657609|PMID:17576681|PMID:19592100|PMID:20079539|PMID:20574029|PMID:22975760|PMID:25525159|PMID:25741868|PMID:28492532|PMID:28795510|PMID:31589614|PMID:31964843|PMID:33749171|PMID:9536098 10041429 CV186771 NM_019098.5(CNGB3):c.112C>T (p.Gln38Ter) variant DOID:0110008 achromatopsia 3 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Achromatopsia 3 PMID:15657609|PMID:16319819|PMID:25741868|PMID:28492532|PMID:28795510|PMID:30418171 10041429 CV186771 NM_019098.5(CNGB3):c.112C>T (p.Gln38Ter) variant DOID:13911 achromatopsia IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Achromatopsia PMID:15657609|PMID:16319819|PMID:25741868|PMID:28492532|PMID:28795510|PMID:30418171 10041430 CV186891 NM_000053.4(ATP7B):c.2975C>T (p.Pro992Leu) variant DOID:630 genetic disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11690702|PMID:16649058|PMID:16696937|PMID:17717039|PMID:18034201|PMID:22240481|PMID:23235335|PMID:23843956|PMID:25741868|PMID:26032686|PMID:27022412|PMID:27398169|PMID:27638368|PMID:28492532|PMID:9199563|PMID:9671269|PMID:9829905|PMID:9837819 10041430 CV186891 NM_000053.4(ATP7B):c.2975C>T (p.Pro992Leu) variant DOID:893 Wilson disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Wilson disease PMID:11690702|PMID:16649058|PMID:16696937|PMID:17717039|PMID:18034201|PMID:22240481|PMID:23235335|PMID:23843956|PMID:25741868|PMID:26032686|PMID:27022412|PMID:27398169|PMID:27638368|PMID:28492532|PMID:9199563|PMID:9671269|PMID:9829905|PMID:9837819 10041431 CV186955 NM_000382.3(ALDH3A2):c.28C>T (p.Gln10Ter) variant DOID:14501 Sjogren-Larsson syndrome IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Sjögren-Larsson syndrome PMID:10577908|PMID:10854114|PMID:21968182|PMID:28492532 10041432 CV186811 NM_000352.6(ABCC8):c.4628T>C (p.Leu1543Pro) variant DOID:0061174 transient neonatal diabetes mellitus 2 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Diabetes mellitus, transient neonatal, 2 PMID:10204114|PMID:11867634|PMID:15562009|PMID:17378627|PMID:20799350|PMID:23275527|PMID:25741868|PMID:28492532 10041432 CV186811 NM_000352.6(ABCC8):c.4628T>C (p.Leu1543Pro) variant DOID:0070219 familial hyperinsulinemic hypoglycemia 1 IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 PMID:10204114|PMID:11867634|PMID:15562009|PMID:17378627|PMID:20799350|PMID:23275527|PMID:25741868|PMID:28492532 10041432 CV186811 NM_000352.6(ABCC8):c.4628T>C (p.Leu1543Pro) variant DOID:0111099 maturity-onset diabetes of the young type 1 IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10204114|PMID:11867634|PMID:15562009|PMID:17378627|PMID:20799350|PMID:23275527|PMID:25741868|PMID:28492532 10041432 CV186811 NM_000352.6(ABCC8):c.4628T>C (p.Leu1543Pro) variant DOID:0112262 leucine-sensitive hypoglycemia of infancy IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Leucine-sensitive hypoglycemia of infancy PMID:10204114|PMID:11867634|PMID:15562009|PMID:17378627|PMID:20799350|PMID:23275527|PMID:25741868|PMID:28492532 10041432 CV186811 NM_000352.6(ABCC8):c.4628T>C (p.Leu1543Pro) variant DOID:13317 hyperinsulinemic hypoglycemia IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Persistent Hyperinsulinemia Hypoglycemia of Infancy PMID:10204114|PMID:11867634|PMID:15562009|PMID:17378627|PMID:20799350|PMID:23275527|PMID:25741868|PMID:28492532 10041432 CV186811 NM_000352.6(ABCC8):c.4628T>C (p.Leu1543Pro) variant DOID:2018 hyperinsulinism IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Hereditary hyperinsulinism PMID:10204114|PMID:11867634|PMID:15562009|PMID:17378627|PMID:20799350|PMID:23275527|PMID:25741868|PMID:28492532 10041432 CV186811 NM_000352.6(ABCC8):c.4628T>C (p.Leu1543Pro) variant DOID:9002279 Permanent Neonatal Diabetes Mellitus 3 IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Diabetes mellitus, permanent neonatal 3 PMID:10204114|PMID:11867634|PMID:15562009|PMID:17378627|PMID:20799350|PMID:23275527|PMID:25741868|PMID:28492532 10041432 CV186811 NM_000352.6(ABCC8):c.4628T>C (p.Leu1543Pro) variant DOID:9352 type 2 diabetes mellitus IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Type II diabetes mellitus PMID:10204114|PMID:11867634|PMID:15562009|PMID:17378627|PMID:20799350|PMID:23275527|PMID:25741868|PMID:28492532 10041433 CV186776 NM_000035.4(ALDOB):c.625-2A>G variant DOID:5204 fructose-1,6-bisphosphatase deficiency IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Fructose-1-phosphate aldolase deficiency PMID:15532022|PMID:20848650|PMID:23430936|PMID:25741868 10041433 CV186776 NM_000035.4(ALDOB):c.625-2A>G variant DOID:9869 hereditary fructose intolerance syndrome IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Fructose-1,6-bisphosphate aldolase B deficiency PMID:15532022|PMID:20848650|PMID:23430936|PMID:25741868 10041434 CV186884 NM_000053.4(ATP7B):c.3451C>T (p.Arg1151Cys) variant DOID:893 Wilson disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Wilson disease PMID:10544227|PMID:15147237|PMID:15205462|PMID:17949296|PMID:21645214|PMID:22484412|PMID:22692182|PMID:23235335|PMID:23333878|PMID:24253677|PMID:25741868|PMID:26215059|PMID:27022412|PMID:27398169|PMID:28492532|PMID:30655162|PMID:34428338|PMID:34620762|PMID:35245129 10041435 CV186768 NM_019098.5(CNGB3):c.646C>T (p.Arg216Ter) variant DOID:0110008 achromatopsia 3 IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Achromatopsia 3 PMID:15657609|PMID:28492532|PMID:28795510 10041435 CV186768 NM_019098.5(CNGB3):c.646C>T (p.Arg216Ter) variant DOID:13911 achromatopsia IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Achromatopsia PMID:15657609|PMID:28492532|PMID:28795510 10041436 CV186612 NM_000228.3(LAMB3):c.565-2A>G variant DOID:0060737 junctional epidermolysis bullosa Herlitz type IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of Herlitz PMID:11023379|PMID:16199547|PMID:16473856|PMID:16971478|PMID:21801158|PMID:28492532|PMID:9242513 10041436 CV186612 NM_000228.3(LAMB3):c.565-2A>G variant DOID:3209 junctional epidermolysis bullosa IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Junctional epidermolysis bullosa PMID:11023379|PMID:16199547|PMID:16473856|PMID:16971478|PMID:21801158|PMID:28492532|PMID:9242513 10041437 CV186788 NM_005476.7(GNE):c.829C>T (p.Arg277Cys) variant DOID:0080718 GNE myopathy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: GNE myopathy PMID:18555875|PMID:22231866|PMID:22507750|PMID:24027297|PMID:24695763|PMID:25741868|PMID:27858732|PMID:28492532|PMID:29480215|PMID:29997562 10041438 CV187029 NM_000271.5(NPC1):c.2761C>T (p.Gln921Ter) variant DOID:0070113 Niemann-Pick disease type C1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C1 PMID:11349231|PMID:19252935|PMID:25741868|PMID:26790753|PMID:28492532|PMID:9211850 10041439 CV186835 NM_000391.4(TPP1):c.972_979del (p.Ser324fs) variant DOID:0110726 neuronal ceroid lipofuscinosis 2 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 2 PMID:10330339|PMID:10477428|PMID:11589013|PMID:21990111|PMID:25741868|PMID:28492532|PMID:31059981|PMID:31283065 10041441 CV186937 NM_000520.6(HEXA):c.947dup (p.Tyr316Ter) variant DOID:3320 Tay-Sachs disease IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:16088929 10041442 CV186871 NM_014363.6(SACS):c.2439_2440del (p.Val815fs) variant DOID:0050946 Charlevoix-Saguenay spastic ataxia IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia PMID:19892370|PMID:21745802|PMID:23043354|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31429931 10041442 CV186871 NM_014363.6(SACS):c.2439_2440del (p.Val815fs) variant DOID:607 paraplegia IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:19892370|PMID:21745802|PMID:23043354|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31429931 10041443 CV186623 NM_000310.4(PPT1):c.541G>A (p.Val181Met) variant DOID:0110721 neuronal ceroid lipofuscinosis 1 IAGP D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 1 PMID:10191107|PMID:10477428|PMID:10649502|PMID:11073228|PMID:11440996|PMID:12796825|PMID:15464427|PMID:19302939|PMID:21499717|PMID:22387303|PMID:23374165|PMID:25741868|PMID:28492532|PMID:28878621|PMID:30541466|PMID:34906470|PMID:9664077 10041443 CV186623 NM_000310.4(PPT1):c.541G>A (p.Val181Met) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10191107|PMID:10477428|PMID:10649502|PMID:11073228|PMID:11440996|PMID:12796825|PMID:15464427|PMID:19302939|PMID:21499717|PMID:22387303|PMID:23374165|PMID:25741868|PMID:28492532|PMID:28878621|PMID:30541466|PMID:34906470|PMID:9664077 10041443 CV186623 NM_000310.4(PPT1):c.541G>A (p.Val181Met) variant DOID:630 genetic disease IAGP D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10191107|PMID:10477428|PMID:10649502|PMID:11073228|PMID:11440996|PMID:12796825|PMID:15464427|PMID:19302939|PMID:21499717|PMID:22387303|PMID:23374165|PMID:25741868|PMID:28492532|PMID:28878621|PMID:30541466|PMID:34906470|PMID:9664077 10041444 CV186878 NM_000053.4(ATP7B):c.3646G>A (p.Val1216Met) variant DOID:893 Wilson disease IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Wilson disease PMID:10447265|PMID:11043508|PMID:14966923|PMID:15952988|PMID:17587212|PMID:17876883|PMID:18034201|PMID:20931554|PMID:21219664|PMID:21645214|PMID:22692182|PMID:25741868|PMID:26253413|PMID:26782526|PMID:27022412|PMID:28492532|PMID:31708252|PMID:35245129|PMID:9671269 10041446 CV186902 NM_000053.4(ATP7B):c.2009_2015del (p.Ile669_Tyr670insTer) variant DOID:893 Wilson disease IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Wilson disease PMID:10441329|PMID:10502777|PMID:16283883|PMID:25741868|PMID:28492532|PMID:30357869|PMID:32796424|PMID:34773664|PMID:7726170|PMID:7833924|PMID:8298639 10041447 CV186815 NM_000352.6(ABCC8):c.2797C>T (p.Arg933Ter) variant DOID:0061174 transient neonatal diabetes mellitus 2 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Diabetes mellitus, transient neonatal, 2 PMID:16429405|PMID:18339976|PMID:20685672|PMID:23275527|PMID:23345197|PMID:24750227|PMID:25741868|PMID:26740944|PMID:27188453|PMID:28270372|PMID:28492532|PMID:30354297|PMID:32934261 10041447 CV186815 NM_000352.6(ABCC8):c.2797C>T (p.Arg933Ter) variant DOID:0070219 familial hyperinsulinemic hypoglycemia 1 IAGP D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 PMID:16429405|PMID:18339976|PMID:20685672|PMID:23275527|PMID:23345197|PMID:24750227|PMID:25741868|PMID:26740944|PMID:27188453|PMID:28270372|PMID:28492532|PMID:30354297|PMID:32934261 10041447 CV186815 NM_000352.6(ABCC8):c.2797C>T (p.Arg933Ter) variant DOID:0111099 maturity-onset diabetes of the young type 1 IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:16429405|PMID:18339976|PMID:20685672|PMID:23275527|PMID:23345197|PMID:24750227|PMID:25741868|PMID:26740944|PMID:27188453|PMID:28270372|PMID:28492532|PMID:30354297|PMID:32934261 10041447 CV186815 NM_000352.6(ABCC8):c.2797C>T (p.Arg933Ter) variant DOID:9352 type 2 diabetes mellitus IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Type II diabetes mellitus PMID:16429405|PMID:18339976|PMID:20685672|PMID:23275527|PMID:23345197|PMID:24750227|PMID:25741868|PMID:26740944|PMID:27188453|PMID:28270372|PMID:28492532|PMID:30354297|PMID:32934261 10041448 CV186672 NM_000187.4(HGD):c.365C>T (p.Ala122Val) variant DOID:9270 alkaptonuria IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:16085442|PMID:19862842|PMID:23430897|PMID:25741868|PMID:25804398|PMID:28492532 10041449 CV186653 NM_000030.3(AGXT):c.302T>C (p.Leu101Pro) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:18810341|PMID:19479957|PMID:23439734|PMID:23861508|PMID:25013605|PMID:25741868|PMID:28492532 10041450 CV186867 NM_014363.6(SACS):c.12232C>T (p.Arg4078Ter) variant DOID:0050946 Charlevoix-Saguenay spastic ataxia IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia PMID:22816526|PMID:25741868|PMID:28492532 10041450 CV186867 NM_014363.6(SACS):c.12232C>T (p.Arg4078Ter) variant DOID:607 paraplegia IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:22816526|PMID:25741868|PMID:28492532 10041452 CV186947 NM_000057.4(BLM):c.991_995del (p.Lys331fs) variant DOID:2717 Bloom syndrome IAGP D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:17407155|PMID:28492532 10041452 CV186947 NM_000057.4(BLM):c.991_995del (p.Lys331fs) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20200407 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17407155|PMID:28492532 10041453 CV186754 NM_000466.3(PEX1):c.2383C>T (p.Arg795Ter) variant DOID:0050444 infantile Refsum disease IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:10447258|PMID:16086329|PMID:16141001|PMID:21031596|PMID:21846392|PMID:25741868|PMID:26387595|PMID:28492532|PMID:31831025|PMID:34744965 10041453 CV186754 NM_000466.3(PEX1):c.2383C>T (p.Arg795Ter) variant DOID:0080476 peroxisome biogenesis disorder 1A IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1a PMID:10447258|PMID:16086329|PMID:16141001|PMID:21031596|PMID:21846392|PMID:25741868|PMID:26387595|PMID:28492532|PMID:31831025|PMID:34744965 10041453 CV186754 NM_000466.3(PEX1):c.2383C>T (p.Arg795Ter) variant DOID:0080623 Heimler syndrome 1 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 1C PMID:10447258|PMID:16086329|PMID:16141001|PMID:21031596|PMID:21846392|PMID:25741868|PMID:26387595|PMID:28492532|PMID:31831025|PMID:34744965 10041453 CV186754 NM_000466.3(PEX1):c.2383C>T (p.Arg795Ter) variant DOID:0081240 peroxisome biogenesis disorder 1B IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1B PMID:10447258|PMID:16086329|PMID:16141001|PMID:21031596|PMID:21846392|PMID:25741868|PMID:26387595|PMID:28492532|PMID:31831025|PMID:34744965 10041453 CV186754 NM_000466.3(PEX1):c.2383C>T (p.Arg795Ter) variant DOID:9006420 Zellweger Leukodystrophy IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Zellweger leukodystrophy PMID:10447258|PMID:16086329|PMID:16141001|PMID:21031596|PMID:21846392|PMID:25741868|PMID:26387595|PMID:28492532|PMID:31831025|PMID:34744965 10041453 CV186754 NM_000466.3(PEX1):c.2383C>T (p.Arg795Ter) variant DOID:905 Zellweger syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:10447258|PMID:16086329|PMID:16141001|PMID:21031596|PMID:21846392|PMID:25741868|PMID:26387595|PMID:28492532|PMID:31831025|PMID:34744965 10041454 CV186675 NM_174878.3(CLRN1):c.502dup (p.Ile168fs) variant DOID:0050439 Usher syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:17893653|PMID:22952768|PMID:23304067|PMID:25741868|PMID:26338283|PMID:28492532 10041454 CV186675 NM_174878.3(CLRN1):c.502dup (p.Ile168fs) variant DOID:0110373 retinitis pigmentosa 61 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 61 PMID:17893653|PMID:22952768|PMID:23304067|PMID:25741868|PMID:26338283|PMID:28492532 10041454 CV186675 NM_174878.3(CLRN1):c.502dup (p.Ile168fs) variant DOID:0110828 Usher syndrome type 3 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Usher syndrome type 3 PMID:17893653|PMID:22952768|PMID:23304067|PMID:25741868|PMID:26338283|PMID:28492532 10041454 CV186675 NM_174878.3(CLRN1):c.502dup (p.Ile168fs) variant DOID:0110841 Usher syndrome type 3A IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Usher syndrome type 3A PMID:17893653|PMID:22952768|PMID:23304067|PMID:25741868|PMID:26338283|PMID:28492532 10041454 CV186675 NM_174878.3(CLRN1):c.502dup (p.Ile168fs) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:17893653|PMID:22952768|PMID:23304067|PMID:25741868|PMID:26338283|PMID:28492532 10041455 CV186898 NM_000053.4(ATP7B):c.2519C>T (p.Pro840Leu) variant DOID:893 Wilson disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Wilson disease PMID:10544227|PMID:17272994|PMID:20958917|PMID:20967755|PMID:22240481|PMID:22308153|PMID:22484412|PMID:22692182|PMID:22720273|PMID:23843956|PMID:24253677|PMID:24661374|PMID:25741868|PMID:28492532|PMID:30232804|PMID:34257423|PMID:9671269 10041456 CV186772 NM_152564.5(VPS13B):c.5259dup (p.Gly1754fs) variant DOID:0111590 Cohen syndrome IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:15141358|PMID:16648375|PMID:20461111|PMID:22382802|PMID:28492532 10041456 CV186772 NM_152564.5(VPS13B):c.5259dup (p.Gly1754fs) variant DOID:9001162 Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness PMID:15141358|PMID:16648375|PMID:20461111|PMID:22382802|PMID:28492532 10041457 CV186786 NM_005476.7(GNE):c.1760T>C (p.Ile587Thr) variant DOID:0080718 GNE myopathy IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: GNE myopathy PMID:12497639|PMID:16503651|PMID:20300792|PMID:20301439|PMID:21307865|PMID:22196754|PMID:22231866|PMID:24027297|PMID:24695763|PMID:24796702|PMID:25741868|PMID:26231298|PMID:26627873|PMID:27858732|PMID:28492532 10041458 CV186897 NM_000053.4(ATP7B):c.2532del (p.Val845fs) variant DOID:893 Wilson disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Wilson disease PMID:10441329|PMID:11243728|PMID:15523622|PMID:16283883|PMID:18483695|PMID:20967755|PMID:21682854|PMID:22308153|PMID:22484412|PMID:23333878|PMID:24517292|PMID:25497208|PMID:25741868|PMID:28492532|PMID:30230192|PMID:36096368|PMID:8533760 10041459 CV186985 NM_000018.4(ACADVL):c.685C>T (p.Arg229Ter) variant DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:10384387|PMID:11590124|PMID:17999356|PMID:25741868|PMID:27246109|PMID:28492532|PMID:29552494|PMID:9973285 10041460 CV186886 NM_000053.4(ATP7B):c.3263T>A (p.Leu1088Ter) variant DOID:893 Wilson disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Wilson disease PMID:10441329|PMID:12515040|PMID:15024742|PMID:15967699|PMID:16283883|PMID:20082719|PMID:20958917|PMID:23518715|PMID:25741868|PMID:28492532|PMID:29358271|PMID:32043565|PMID:34620762 10041461 CV186693 NM_000128.4(F11):c.1556G>A (p.Trp519Ter) variant DOID:2213 hemorrhagic disease IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:11122101|PMID:20015217|PMID:21668437|PMID:23929304|PMID:24982842|PMID:25681615|PMID:25741868|PMID:27723456|PMID:28492532|PMID:29138690|PMID:31064749 10041461 CV186693 NM_000128.4(F11):c.1556G>A (p.Trp519Ter) variant DOID:2229 factor XI deficiency IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Plasma factor XI deficiency PMID:11122101|PMID:20015217|PMID:21668437|PMID:23929304|PMID:24982842|PMID:25681615|PMID:25741868|PMID:27723456|PMID:28492532|PMID:29138690|PMID:31064749 10041462 CV186962 NM_000049.4(ASPA):c.79G>A (p.Gly27Arg) variant DOID:3613 Canavan disease IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Spongy degeneration of central nervous system PMID:10407784|PMID:10909858|PMID:12638939|PMID:18978679|PMID:22611636|PMID:23233226|PMID:25741868|PMID:28492532|PMID:8659549 10041463 CV186821 NM_000360.4(TH):c.1282C>T (p.Gln428Ter) variant DOID:0051059 autosomal recessive Segawa syndrome IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia PMID:20430833|PMID:22264700|PMID:24753243|PMID:25741868|PMID:28492532 10041464 CV186654 NM_000030.3(AGXT):c.322T>C (p.Trp108Arg) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:11562405|PMID:12768081|PMID:15464418|PMID:15961946|PMID:16971151|PMID:17460142|PMID:18448374|PMID:22018727|PMID:22923379|PMID:24718375|PMID:25741868|PMID:27935012|PMID:28492532|PMID:9604803 10041466 CV186759 NM_000466.3(PEX1):c.643_647del (p.Thr215fs) variant DOID:0050444 infantile Refsum disease IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:16086329|PMID:16141001|PMID:19105186|PMID:21031596|PMID:25741868|PMID:26387595|PMID:28492532|PMID:31831025|PMID:9398847 10041466 CV186759 NM_000466.3(PEX1):c.643_647del (p.Thr215fs) variant DOID:0080476 peroxisome biogenesis disorder 1A IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1a PMID:16086329|PMID:16141001|PMID:19105186|PMID:21031596|PMID:25741868|PMID:26387595|PMID:28492532|PMID:31831025|PMID:9398847 10041466 CV186759 NM_000466.3(PEX1):c.643_647del (p.Thr215fs) variant DOID:0080623 Heimler syndrome 1 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 1C PMID:16086329|PMID:16141001|PMID:19105186|PMID:21031596|PMID:25741868|PMID:26387595|PMID:28492532|PMID:31831025|PMID:9398847 10041466 CV186759 NM_000466.3(PEX1):c.643_647del (p.Thr215fs) variant DOID:0081240 peroxisome biogenesis disorder 1B IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1B PMID:16086329|PMID:16141001|PMID:19105186|PMID:21031596|PMID:25741868|PMID:26387595|PMID:28492532|PMID:31831025|PMID:9398847 10041466 CV186759 NM_000466.3(PEX1):c.643_647del (p.Thr215fs) variant DOID:9006420 Zellweger Leukodystrophy IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Zellweger leukodystrophy PMID:16086329|PMID:16141001|PMID:19105186|PMID:21031596|PMID:25741868|PMID:26387595|PMID:28492532|PMID:31831025|PMID:9398847 10041466 CV186759 NM_000466.3(PEX1):c.643_647del (p.Thr215fs) variant DOID:905 Zellweger syndrome IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:16086329|PMID:16141001|PMID:19105186|PMID:21031596|PMID:25741868|PMID:26387595|PMID:28492532|PMID:31831025|PMID:9398847 10041467 CV186660 NM_000030.3(AGXT):c.752G>A (p.Trp251Ter) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:15110324|PMID:25741868 10041468 CV186910 NM_000053.4(ATP7B):c.331C>T (p.Gln111Ter) variant DOID:893 Wilson disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Wilson disease PMID:10441329|PMID:15952988|PMID:16283883|PMID:22677543|PMID:23518715|PMID:25741868|PMID:28492532|PMID:31708252|PMID:34381985|PMID:34400371|PMID:9671269 10041469 CV186881 NM_000053.4(ATP7B):c.3556G>A (p.Gly1186Ser) variant DOID:630 genetic disease IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10453196|PMID:10790207|PMID:15967699|PMID:17576681|PMID:17587212|PMID:18203200|PMID:18371106|PMID:20453399|PMID:20491539|PMID:21645214|PMID:22484412|PMID:22692182|PMID:22940187|PMID:23556051|PMID:24010089|PMID:24094725|PMID:24253677|PMID:25130000|PMID:25741868|PMID:26269689|PMID:28492532|PMID:29930488|PMID:31589614|PMID:33260258|PMID:34400371|PMID:34866098|PMID:35220961|PMID:35257483|PMID:9452121|PMID:9536098 10041469 CV186881 NM_000053.4(ATP7B):c.3556G>A (p.Gly1186Ser) variant DOID:893 Wilson disease IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Wilson disease PMID:10453196|PMID:10790207|PMID:15967699|PMID:17576681|PMID:17587212|PMID:18203200|PMID:18371106|PMID:20453399|PMID:20491539|PMID:21645214|PMID:22484412|PMID:22692182|PMID:22940187|PMID:23556051|PMID:24010089|PMID:24094725|PMID:24253677|PMID:25130000|PMID:25741868|PMID:26269689|PMID:28492532|PMID:29930488|PMID:31589614|PMID:33260258|PMID:34400371|PMID:34866098|PMID:35220961|PMID:35257483|PMID:9452121|PMID:9536098 10041470 CV186814 NM_000352.6(ABCC8):c.2857C>T (p.Gln953Ter) variant DOID:0061174 transient neonatal diabetes mellitus 2 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Diabetes mellitus, transient neonatal, 2 PMID:10338089|PMID:10685980|PMID:14715863|PMID:16357843|PMID:16416420|PMID:17236890|PMID:20685672|PMID:23275527|PMID:23345197|PMID:23506826|PMID:23652837|PMID:25201519|PMID:25741868|PMID:28442472|PMID:28492532|PMID:9618169 10041470 CV186814 NM_000352.6(ABCC8):c.2857C>T (p.Gln953Ter) variant DOID:0070219 familial hyperinsulinemic hypoglycemia 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 PMID:10338089|PMID:10685980|PMID:14715863|PMID:16357843|PMID:16416420|PMID:17236890|PMID:20685672|PMID:23275527|PMID:23345197|PMID:23506826|PMID:23652837|PMID:25201519|PMID:25741868|PMID:28442472|PMID:28492532|PMID:9618169 10041470 CV186814 NM_000352.6(ABCC8):c.2857C>T (p.Gln953Ter) variant DOID:0111099 maturity-onset diabetes of the young type 1 IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10338089|PMID:10685980|PMID:14715863|PMID:16357843|PMID:16416420|PMID:17236890|PMID:20685672|PMID:23275527|PMID:23345197|PMID:23506826|PMID:23652837|PMID:25201519|PMID:25741868|PMID:28442472|PMID:28492532|PMID:9618169 10041470 CV186814 NM_000352.6(ABCC8):c.2857C>T (p.Gln953Ter) variant DOID:9006828 Congenital Hyperinsulinism IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hyperinsulinism PMID:10338089|PMID:10685980|PMID:14715863|PMID:16357843|PMID:16416420|PMID:17236890|PMID:20685672|PMID:23275527|PMID:23345197|PMID:23506826|PMID:23652837|PMID:25201519|PMID:25741868|PMID:28442472|PMID:28492532|PMID:9618169 10041470 CV186814 NM_000352.6(ABCC8):c.2857C>T (p.Gln953Ter) variant DOID:9352 type 2 diabetes mellitus IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10338089|PMID:10685980|PMID:14715863|PMID:16357843|PMID:16416420|PMID:17236890|PMID:20685672|PMID:23275527|PMID:23345197|PMID:23506826|PMID:23652837|PMID:25201519|PMID:25741868|PMID:28442472|PMID:28492532|PMID:9618169 10041471 CV186945 NM_000137.4(FAH):c.1190del (p.Gln397fs) variant DOID:0050726 tyrosinemia type I IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Tyrosinemia type I PMID:10508789|PMID:21764616|PMID:25741868 10041472 CV186873 NM_000053.4(ATP7B):c.4088C>T (p.Ser1363Phe) variant DOID:893 Wilson disease IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Wilson disease PMID:10544227|PMID:19937698|PMID:21610751|PMID:22692182|PMID:24094725|PMID:24253677|PMID:25741868|PMID:28492532|PMID:34404389|PMID:37046505 10041473 CV186833 NM_000391.4(TPP1):c.1551+1G>A variant DOID:0110726 neuronal ceroid lipofuscinosis 2 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 2 PMID:17576681|PMID:20820830|PMID:21990111|PMID:23266810|PMID:25741868|PMID:26032578|PMID:28492532|PMID:9536098 10041474 CV186758 NM_000466.3(PEX1):c.782_783del (p.Gln261fs) variant DOID:0050444 infantile Refsum disease IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Infantile form of phytanic acid storage disease PMID:19105186|PMID:21031596|PMID:2324705|PMID:23247051|PMID:25741868|PMID:26387595|PMID:28492532|PMID:31831025|PMID:33708531 10041474 CV186758 NM_000466.3(PEX1):c.782_783del (p.Gln261fs) variant DOID:0080476 peroxisome biogenesis disorder 1A IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1a PMID:19105186|PMID:21031596|PMID:2324705|PMID:23247051|PMID:25741868|PMID:26387595|PMID:28492532|PMID:31831025|PMID:33708531 10041474 CV186758 NM_000466.3(PEX1):c.782_783del (p.Gln261fs) variant DOID:0080623 Heimler syndrome 1 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 1C PMID:19105186|PMID:21031596|PMID:2324705|PMID:23247051|PMID:25741868|PMID:26387595|PMID:28492532|PMID:31831025|PMID:33708531 10041474 CV186758 NM_000466.3(PEX1):c.782_783del (p.Gln261fs) variant DOID:0081240 peroxisome biogenesis disorder 1B IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1B PMID:19105186|PMID:21031596|PMID:2324705|PMID:23247051|PMID:25741868|PMID:26387595|PMID:28492532|PMID:31831025|PMID:33708531 10041474 CV186758 NM_000466.3(PEX1):c.782_783del (p.Gln261fs) variant DOID:630 genetic disease IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19105186|PMID:21031596|PMID:2324705|PMID:23247051|PMID:25741868|PMID:26387595|PMID:28492532|PMID:31831025|PMID:33708531 10041474 CV186758 NM_000466.3(PEX1):c.782_783del (p.Gln261fs) variant DOID:9006420 Zellweger Leukodystrophy IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Zellweger leukodystrophy PMID:19105186|PMID:21031596|PMID:2324705|PMID:23247051|PMID:25741868|PMID:26387595|PMID:28492532|PMID:31831025|PMID:33708531 10041474 CV186758 NM_000466.3(PEX1):c.782_783del (p.Gln261fs) variant DOID:905 Zellweger syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Zellweger Spectrum PMID:19105186|PMID:21031596|PMID:2324705|PMID:23247051|PMID:25741868|PMID:26387595|PMID:28492532|PMID:31831025|PMID:33708531 10041475 CV186865 NM_014363.6(SACS):c.12973C>T (p.Arg4325Ter) variant DOID:0050946 Charlevoix-Saguenay spastic ataxia IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia PMID:16944349|PMID:21665375|PMID:21993619|PMID:23280630|PMID:25741868|PMID:27142713|PMID:28492532|PMID:31475473 10041475 CV186865 NM_014363.6(SACS):c.12973C>T (p.Arg4325Ter) variant DOID:607 paraplegia IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:16944349|PMID:21665375|PMID:21993619|PMID:23280630|PMID:25741868|PMID:27142713|PMID:28492532|PMID:31475473 10041476 CV186682 NM_000128.4(F11):c.400C>T (p.Gln134Ter) variant DOID:2213 hemorrhagic disease IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:10593931|PMID:16519703|PMID:18515884|PMID:23929304|PMID:25741868|PMID:28492532|PMID:31064749 10041476 CV186682 NM_000128.4(F11):c.400C>T (p.Gln134Ter) variant DOID:2229 factor XI deficiency IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Plasma factor XI deficiency PMID:10593931|PMID:16519703|PMID:18515884|PMID:23929304|PMID:25741868|PMID:28492532|PMID:31064749 10041477 CV186683 NM_000128.4(F11):c.408C>A (p.Cys136Ter) variant DOID:2213 hemorrhagic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:15531455|PMID:16835901|PMID:23929304|PMID:25741868|PMID:28492532|PMID:31064749 10041477 CV186683 NM_000128.4(F11):c.408C>A (p.Cys136Ter) variant DOID:2229 factor XI deficiency IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary factor XI deficiency disease PMID:15531455|PMID:16835901|PMID:23929304|PMID:25741868|PMID:28492532|PMID:31064749 10041478 CV186816 NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter) variant DOID:0060639 permanent neonatal diabetes mellitus IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus PMID:10204114|PMID:15579781|PMID:17378627|PMID:17389331|PMID:17919176|PMID:20685672|PMID:20922570|PMID:20943781|PMID:21422196|PMID:21738553|PMID:23067144|PMID:23301914|PMID:23345197|PMID:24332968|PMID:25741868|PMID:25765446|PMID:26379717|PMID:26467025|PMID:26740944|PMID:28492532|PMID:29644095|PMID:32376986|PMID:33013711|PMID:34462253|PMID:36034573 10041478 CV186816 NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter) variant DOID:0061174 transient neonatal diabetes mellitus 2 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Diabetes mellitus, transient neonatal, 2 PMID:10204114|PMID:15579781|PMID:17378627|PMID:17389331|PMID:17919176|PMID:20685672|PMID:20922570|PMID:20943781|PMID:21422196|PMID:21738553|PMID:23067144|PMID:23301914|PMID:23345197|PMID:24332968|PMID:25741868|PMID:25765446|PMID:26379717|PMID:26467025|PMID:26740944|PMID:28492532|PMID:29644095|PMID:32376986|PMID:33013711|PMID:34462253|PMID:36034573 10041478 CV186816 NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter) variant DOID:0070219 familial hyperinsulinemic hypoglycemia 1 IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 PMID:10204114|PMID:15579781|PMID:17378627|PMID:17389331|PMID:17919176|PMID:20685672|PMID:20922570|PMID:20943781|PMID:21422196|PMID:21738553|PMID:23067144|PMID:23301914|PMID:23345197|PMID:24332968|PMID:25741868|PMID:25765446|PMID:26379717|PMID:26467025|PMID:26740944|PMID:28492532|PMID:29644095|PMID:32376986|PMID:33013711|PMID:34462253|PMID:36034573 10041478 CV186816 NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter) variant DOID:0111099 maturity-onset diabetes of the young type 1 IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10204114|PMID:15579781|PMID:17378627|PMID:17389331|PMID:17919176|PMID:20685672|PMID:20922570|PMID:20943781|PMID:21422196|PMID:21738553|PMID:23067144|PMID:23301914|PMID:23345197|PMID:24332968|PMID:25741868|PMID:25765446|PMID:26379717|PMID:26467025|PMID:26740944|PMID:28492532|PMID:29644095|PMID:32376986|PMID:33013711|PMID:34462253|PMID:36034573 10041478 CV186816 NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter) variant DOID:11717 neonatal diabetes mellitus IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Neonatal diabetes mellitus PMID:10204114|PMID:15579781|PMID:17378627|PMID:17389331|PMID:17919176|PMID:20685672|PMID:20922570|PMID:20943781|PMID:21422196|PMID:21738553|PMID:23067144|PMID:23301914|PMID:23345197|PMID:24332968|PMID:25741868|PMID:25765446|PMID:26379717|PMID:26467025|PMID:26740944|PMID:28492532|PMID:29644095|PMID:32376986|PMID:33013711|PMID:34462253|PMID:36034573 10041478 CV186816 NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter) variant DOID:2018 hyperinsulinism IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Hereditary hyperinsulinism PMID:10204114|PMID:15579781|PMID:17378627|PMID:17389331|PMID:17919176|PMID:20685672|PMID:20922570|PMID:20943781|PMID:21422196|PMID:21738553|PMID:23067144|PMID:23301914|PMID:23345197|PMID:24332968|PMID:25741868|PMID:25765446|PMID:26379717|PMID:26467025|PMID:26740944|PMID:28492532|PMID:29644095|PMID:32376986|PMID:33013711|PMID:34462253|PMID:36034573 10041478 CV186816 NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter) variant DOID:9352 type 2 diabetes mellitus IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10204114|PMID:15579781|PMID:17378627|PMID:17389331|PMID:17919176|PMID:20685672|PMID:20922570|PMID:20943781|PMID:21422196|PMID:21738553|PMID:23067144|PMID:23301914|PMID:23345197|PMID:24332968|PMID:25741868|PMID:25765446|PMID:26379717|PMID:26467025|PMID:26740944|PMID:28492532|PMID:29644095|PMID:32376986|PMID:33013711|PMID:34462253|PMID:36034573 10041479 CV186787 NM_005476.7(GNE):c.1306C>T (p.Gln436Ter) variant DOID:0080718 GNE myopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: GNE myopathy PMID:20059379|PMID:24027297|PMID:25741868|PMID:28492532|PMID:30390020 10041480 CV186761 NM_018941.4(CLN8):c.709G>A (p.Gly237Arg) variant DOID:0110723 neuronal ceroid lipofuscinosis 8 IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 8 PMID:16828266|PMID:19201763|PMID:19807737|PMID:21990111|PMID:25741868|PMID:28492532|PMID:30919163|PMID:33358637 10041480 CV186761 NM_018941.4(CLN8):c.709G>A (p.Gly237Arg) variant DOID:14503 neuronal ceroid lipofuscinosis IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:16828266|PMID:19201763|PMID:19807737|PMID:21990111|PMID:25741868|PMID:28492532|PMID:30919163|PMID:33358637 10041481 CV186699 NM_000288.4(PEX7):c.74C>T (p.Ser25Phe) variant DOID:0081438 Peroxisome biogenesis disorder 9B IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 9B PMID:12325024|PMID:23352163|PMID:25741868|PMID:28492532 10041481 CV186699 NM_000288.4(PEX7):c.74C>T (p.Ser25Phe) variant DOID:0110851 rhizomelic chondrodysplasia punctata type 1 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata type 1 PMID:12325024|PMID:23352163|PMID:25741868|PMID:28492532 10041482 CV186819 NM_000352.6(ABCC8):c.1678G>A (p.Val560Met) variant DOID:0060639 permanent neonatal diabetes mellitus IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus PMID:12166651|PMID:16367916|PMID:20849526|PMID:28492532|PMID:9519757 10041482 CV186819 NM_000352.6(ABCC8):c.1678G>A (p.Val560Met) variant DOID:0061174 transient neonatal diabetes mellitus 2 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Diabetes mellitus, transient neonatal, 2 PMID:12166651|PMID:16367916|PMID:20849526|PMID:28492532|PMID:9519757 10041482 CV186819 NM_000352.6(ABCC8):c.1678G>A (p.Val560Met) variant DOID:0070219 familial hyperinsulinemic hypoglycemia 1 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 PMID:12166651|PMID:16367916|PMID:20849526|PMID:28492532|PMID:9519757 10041482 CV186819 NM_000352.6(ABCC8):c.1678G>A (p.Val560Met) variant DOID:2018 hyperinsulinism IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary hyperinsulinism PMID:12166651|PMID:16367916|PMID:20849526|PMID:28492532|PMID:9519757 10041483 CV186686 NM_000128.4(F11):c.751C>T (p.Gln251Ter) variant DOID:2229 factor XI deficiency IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Hereditary factor XI deficiency disease PMID:16835901 10041484 CV186794 NM_000136.3(FANCC):c.65G>A (p.Trp22Ter) variant DOID:0111087 Fanconi anemia complementation group C IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Fanconi anemia, complementation group C PMID:08844212|PMID:17924555|PMID:25741868|PMID:28492532|PMID:28717661|PMID:8844212 10041484 CV186794 NM_000136.3(FANCC):c.65G>A (p.Trp22Ter) variant DOID:13636 Fanconi anemia IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:08844212|PMID:17924555|PMID:25741868|PMID:28492532|PMID:28717661|PMID:8844212 10041484 CV186794 NM_000136.3(FANCC):c.65G>A (p.Trp22Ter) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:08844212|PMID:17924555|PMID:25741868|PMID:28492532|PMID:28717661|PMID:8844212 10041485 CV186936 NM_000520.6(HEXA):c.986+3A>G variant DOID:3320 Tay-Sachs disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:17576681|PMID:20100466|PMID:23035047|PMID:24518553|PMID:25741868|PMID:28492532|PMID:7551830|PMID:9150157|PMID:9536098 10041486 CV186907 NM_000053.4(ATP7B):c.813C>A (p.Cys271Ter) variant DOID:893 Wilson disease IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Wilson disease PMID:10441329|PMID:16133174|PMID:16283883|PMID:17264425|PMID:21034864|PMID:21645214|PMID:23518715|PMID:23551039|PMID:24094725|PMID:25525159|PMID:25741868|PMID:28492532|PMID:30426382|PMID:31059521|PMID:32351182|PMID:35342245|PMID:9887381 10041486 CV186907 NM_000053.4(ATP7B):c.813C>A (p.Cys271Ter) variant DOID:9006435 Mental Retardation Wolff Type IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Wolff Zimmermann syndrome PMID:10441329|PMID:16133174|PMID:16283883|PMID:17264425|PMID:21034864|PMID:21645214|PMID:23518715|PMID:23551039|PMID:24094725|PMID:25525159|PMID:25741868|PMID:28492532|PMID:30426382|PMID:31059521|PMID:32351182|PMID:35342245|PMID:9887381 10041487 CV186812 NM_000352.6(ABCC8):c.4411G>A (p.Asp1471Asn) variant DOID:0061174 transient neonatal diabetes mellitus 2 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Diabetes mellitus, transient neonatal, 2 PMID:10720932|PMID:14764815|PMID:15562009|PMID:17378627|PMID:17466004|PMID:18988933|PMID:20427569|PMID:20685672|PMID:20799350|PMID:23345197|PMID:24616771|PMID:25741868|PMID:28492532|PMID:30352420|PMID:30354297 10041487 CV186812 NM_000352.6(ABCC8):c.4411G>A (p.Asp1471Asn) variant DOID:0070219 familial hyperinsulinemic hypoglycemia 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 PMID:10720932|PMID:14764815|PMID:15562009|PMID:17378627|PMID:17466004|PMID:18988933|PMID:20427569|PMID:20685672|PMID:20799350|PMID:23345197|PMID:24616771|PMID:25741868|PMID:28492532|PMID:30352420|PMID:30354297 10041487 CV186812 NM_000352.6(ABCC8):c.4411G>A (p.Asp1471Asn) variant DOID:0111099 maturity-onset diabetes of the young type 1 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10720932|PMID:14764815|PMID:15562009|PMID:17378627|PMID:17466004|PMID:18988933|PMID:20427569|PMID:20685672|PMID:20799350|PMID:23345197|PMID:24616771|PMID:25741868|PMID:28492532|PMID:30352420|PMID:30354297 10041487 CV186812 NM_000352.6(ABCC8):c.4411G>A (p.Asp1471Asn) variant DOID:0112262 leucine-sensitive hypoglycemia of infancy IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: LEUCINE-SENSITIVE HYPOGLYCEMIA OF INFANCY PMID:10720932|PMID:14764815|PMID:15562009|PMID:17378627|PMID:17466004|PMID:18988933|PMID:20427569|PMID:20685672|PMID:20799350|PMID:23345197|PMID:24616771|PMID:25741868|PMID:28492532|PMID:30352420|PMID:30354297 10041487 CV186812 NM_000352.6(ABCC8):c.4411G>A (p.Asp1471Asn) variant DOID:13317 hyperinsulinemic hypoglycemia IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Persistent hyperinsulinemic hypoglycemia of infancy PMID:10720932|PMID:14764815|PMID:15562009|PMID:17378627|PMID:17466004|PMID:18988933|PMID:20427569|PMID:20685672|PMID:20799350|PMID:23345197|PMID:24616771|PMID:25741868|PMID:28492532|PMID:30352420|PMID:30354297 10041487 CV186812 NM_000352.6(ABCC8):c.4411G>A (p.Asp1471Asn) variant DOID:2018 hyperinsulinism IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary hyperinsulinism PMID:10720932|PMID:14764815|PMID:15562009|PMID:17378627|PMID:17466004|PMID:18988933|PMID:20427569|PMID:20685672|PMID:20799350|PMID:23345197|PMID:24616771|PMID:25741868|PMID:28492532|PMID:30352420|PMID:30354297 10041487 CV186812 NM_000352.6(ABCC8):c.4411G>A (p.Asp1471Asn) variant DOID:9002279 Permanent Neonatal Diabetes Mellitus 3 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Diabetes mellitus, permanent neonatal 3 PMID:10720932|PMID:14764815|PMID:15562009|PMID:17378627|PMID:17466004|PMID:18988933|PMID:20427569|PMID:20685672|PMID:20799350|PMID:23345197|PMID:24616771|PMID:25741868|PMID:28492532|PMID:30352420|PMID:30354297 10041487 CV186812 NM_000352.6(ABCC8):c.4411G>A (p.Asp1471Asn) variant DOID:9006828 Congenital Hyperinsulinism IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital hyperinsulinism PMID:10720932|PMID:14764815|PMID:15562009|PMID:17378627|PMID:17466004|PMID:18988933|PMID:20427569|PMID:20685672|PMID:20799350|PMID:23345197|PMID:24616771|PMID:25741868|PMID:28492532|PMID:30352420|PMID:30354297 10041487 CV186812 NM_000352.6(ABCC8):c.4411G>A (p.Asp1471Asn) variant DOID:9352 type 2 diabetes mellitus IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Type II diabetes mellitus PMID:10720932|PMID:14764815|PMID:15562009|PMID:17378627|PMID:17466004|PMID:18988933|PMID:20427569|PMID:20685672|PMID:20799350|PMID:23345197|PMID:24616771|PMID:25741868|PMID:28492532|PMID:30352420|PMID:30354297 10041488 CV187024 NM_000271.5(NPC1):c.2972_2973del (p.Gln991fs) variant DOID:0070113 Niemann-Pick disease type C1 IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C PMID:10521290|PMID:12401890|PMID:12955717|PMID:16086131|PMID:16126423|PMID:19252935|PMID:23427322|PMID:24033266|PMID:24915861|PMID:25741868|PMID:26666848|PMID:26830282|PMID:28492532|PMID:9211850 10041490 CV186628 NM_000016.6(ACADM):c.244dup (p.Trp82fs) variant DOID:0080153 medium chain acyl-CoA dehydrogenase deficiency IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Medium-chain acyl-coenzyme A dehydrogenase deficiency PMID:11349232|PMID:15171998|PMID:15832312|PMID:16121256|PMID:20036593|PMID:20434380|PMID:22542437|PMID:23028790|PMID:23095120|PMID:25741868|PMID:28492532 10041491 CV187066 NM_000383.4(AIRE):c.1249dup (p.Leu417fs) variant DOID:0050167 autoimmune polyendocrine syndrome type 1 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 PMID:10677297|PMID:11524731|PMID:12050215|PMID:17118990|PMID:21724609|PMID:25741868|PMID:26141571|PMID:28492532|PMID:28919897|PMID:35521792|PMID:9837820 10041491 CV187066 NM_000383.4(AIRE):c.1249dup (p.Leu417fs) variant DOID:630 genetic disease IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10677297|PMID:11524731|PMID:12050215|PMID:17118990|PMID:21724609|PMID:25741868|PMID:26141571|PMID:28492532|PMID:28919897|PMID:35521792|PMID:9837820 10041492 CV186613 NM_000228.3(LAMB3):c.463dup (p.Ser155fs) variant DOID:0060737 junctional epidermolysis bullosa Herlitz type IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of Herlitz PMID:11023379|PMID:16473856|PMID:25741868|PMID:28492532|PMID:8824879|PMID:9160387 10041492 CV186613 NM_000228.3(LAMB3):c.463dup (p.Ser155fs) variant DOID:0110054 amelogenesis imperfecta type 1A IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta type 1A PMID:11023379|PMID:16473856|PMID:25741868|PMID:28492532|PMID:8824879|PMID:9160387 10041493 CV186908 NM_000053.4(ATP7B):c.778dup (p.Gln260fs) variant DOID:893 Wilson disease IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Wilson disease PMID:10441329|PMID:10980554|PMID:11216666|PMID:16283883|PMID:19172127|PMID:20082719|PMID:23518715|PMID:25741868|PMID:27935710|PMID:28492532|PMID:34400371 10041494 CV186645 NM_000642.3(AGL):c.3444C>G (p.Tyr1148Ter) variant DOID:2748 glycogen storage disease III IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Glycogen storage disease type III PMID:11924557|PMID:22089644 10041495 CV186965 NM_000049.4(ASPA):c.541C>A (p.Pro181Thr) variant DOID:3613 Canavan disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spongy degeneration of central nervous system PMID:10909858|PMID:12638939|PMID:16802711|PMID:16854607|PMID:17194761|PMID:21907889|PMID:22750302|PMID:22850825|PMID:23233226|PMID:25741868|PMID:28492532 10041496 CV186979 NM_000151.4(G6PC1):c.1012G>T (p.Val338Phe) variant DOID:0081329 glycogen storage disease I IAGP D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphatase deficiency PMID:10070617|PMID:10094563|PMID:10834516|PMID:11058903|PMID:11310582|PMID:11739393|PMID:12373566|PMID:25741868|PMID:28492532 10041496 CV186979 NM_000151.4(G6PC1):c.1012G>T (p.Val338Phe) variant DOID:2749 glycogen storage disease Ia IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphatase deficiency PMID:10070617|PMID:10094563|PMID:10834516|PMID:11058903|PMID:11310582|PMID:11739393|PMID:12373566|PMID:25741868|PMID:28492532 10041497 CV186874 NM_000053.4(ATP7B):c.4051C>T (p.Gln1351Ter) variant DOID:893 Wilson disease IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Wilson disease PMID:10441329|PMID:11180609|PMID:16283883|PMID:16635921|PMID:17154398|PMID:17272994|PMID:17433323|PMID:21273697|PMID:21334398|PMID:21454443|PMID:21610751|PMID:22677543|PMID:23885147|PMID:24517292|PMID:25525159|PMID:25741868|PMID:26799313|PMID:28492532|PMID:30230192|PMID:34400371|PMID:35626790|PMID:8 10041498 CV186762 NM_000370.3(TTPA):c.487del (p.Trp163fs) variant DOID:0090028 familial isolated deficiency of vitamin E IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial isolated deficiency of vitamin E PMID:12907280|PMID:15300460|PMID:20301419|PMID:25741868|PMID:26068213|PMID:27274910|PMID:28492532|PMID:8602747|PMID:9463307 10041499 CV186887 NM_000053.4(ATP7B):c.3244-2A>G variant DOID:893 Wilson disease IAGP D RGD:8554872 20211109 ClinVar ClinVar Annotator: match by term: Wilson disease PMID:10441329|PMID:16199547|PMID:16283883|PMID:21796144|PMID:22484412|PMID:23518715|PMID:25086856|PMID:25741868|PMID:28492532|PMID:29356957 10041500 CV186933 NM_000520.6(HEXA):c.1528C>T (p.Arg510Ter) variant DOID:3320 Tay-Sachs disease IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:21567908|PMID:22789865|PMID:24518553|PMID:25741868|PMID:27896118|PMID:28492532|PMID:33547378 10041501 CV187025 NM_000271.5(NPC1):c.2893C>T (p.Gln965Ter) variant DOID:0070113 Niemann-Pick disease type C1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C1 PMID:12955717|PMID:28492532|PMID:9211850 10041502 CV186651 NM_000030.3(AGXT):c.106C>T (p.Arg36Cys) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:15356974|PMID:17495019|PMID:22923379|PMID:24718375|PMID:24988064|PMID:25741868|PMID:28492532 10041503 CV186948 NM_000057.4(BLM):c.2015A>G (p.Gln672Arg) variant DOID:2717 Bloom syndrome IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:10069810|PMID:10812332|PMID:10965492|PMID:12444098|PMID:15579905|PMID:17407155|PMID:17878217|PMID:22582397|PMID:22885301|PMID:23276657|PMID:25741868|PMID:26247052|PMID:26467025|PMID:28492532|PMID:30044990|PMID:31253795|PMID:7585968|PMID:9840919 10041503 CV186948 NM_000057.4(BLM):c.2015A>G (p.Gln672Arg) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10069810|PMID:10812332|PMID:10965492|PMID:12444098|PMID:15579905|PMID:17407155|PMID:17878217|PMID:22582397|PMID:22885301|PMID:23276657|PMID:25741868|PMID:26247052|PMID:26467025|PMID:28492532|PMID:30044990|PMID:31253795|PMID:7585968|PMID:9840919 10041504 CV186679 NM_000027.4(AGA):c.34G>T (p.Val12Leu) variant DOID:0050461 aspartylglucosaminuria IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Aspartylglucosaminuria PMID:11309371|PMID:28492532 10041505 CV186951 NM_000303.3(PMM2):c.1A>G (p.Met1Val) variant DOID:0080552 congenital disorder of glycosylation Ia IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: PMM2-congenital disorder of glycosylation PMID:12626389|PMID:18948042|PMID:22223895|PMID:22814378|PMID:23430838|PMID:25741868|PMID:28454995|PMID:28492532|PMID:9710598 10041506 CV186977 NM_000151.4(G6PC1):c.189G>A (p.Trp63Ter) variant DOID:0081329 glycogen storage disease I IAGP D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphatase deficiency PMID:10094563|PMID:10834516|PMID:11949931|PMID:12373566|PMID:23352793|PMID:28492532|PMID:34258141|PMID:7573034|PMID:8182131 10041506 CV186977 NM_000151.4(G6PC1):c.189G>A (p.Trp63Ter) variant DOID:2749 glycogen storage disease Ia IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphatase deficiency PMID:10094563|PMID:10834516|PMID:11949931|PMID:12373566|PMID:23352793|PMID:28492532|PMID:34258141|PMID:7573034|PMID:8182131 10041507 CV186941 NM_002435.3(MPI):c.166dup (p.Arg56fs) variant DOID:0080554 congenital disorder of glycosylation Ib IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: CDG gastrointestinal type PMID:10980531|PMID:18928705|PMID:19862844|PMID:25741868|PMID:28492532 10041508 CV186766 NM_019098.5(CNGB3):c.1006G>T (p.Glu336Ter) variant DOID:0110008 achromatopsia 3 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Achromatopsia 3 PMID:10958649|PMID:15657609|PMID:16319819|PMID:22975760|PMID:24148654|PMID:25525159|PMID:25741868|PMID:27479814|PMID:28492532|PMID:28795510|PMID:31456290|PMID:31589614|PMID:31964843|PMID:32531858|PMID:34426522|PMID:35456422 10041508 CV186766 NM_019098.5(CNGB3):c.1006G>T (p.Glu336Ter) variant DOID:13911 achromatopsia IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Achromatopsia PMID:10958649|PMID:15657609|PMID:16319819|PMID:22975760|PMID:24148654|PMID:25525159|PMID:25741868|PMID:27479814|PMID:28492532|PMID:28795510|PMID:31456290|PMID:31589614|PMID:31964843|PMID:32531858|PMID:34426522|PMID:35456422 10041508 CV186766 NM_019098.5(CNGB3):c.1006G>T (p.Glu336Ter) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10958649|PMID:15657609|PMID:16319819|PMID:22975760|PMID:24148654|PMID:25525159|PMID:25741868|PMID:27479814|PMID:28492532|PMID:28795510|PMID:31456290|PMID:31589614|PMID:31964843|PMID:32531858|PMID:34426522|PMID:35456422 10041509 CV186646 NM_000642.3(AGL):c.4197del (p.Ala1400fs) variant DOID:2748 glycogen storage disease III IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glycogen storage disease type III PMID:19299494|PMID:20490926|PMID:24824133|PMID:25741868|PMID:28492532 10041510 CV186752 NM_000466.3(PEX1):c.2730del (p.Leu910fs) variant DOID:0050444 infantile Refsum disease IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:11389485|PMID:15542397|PMID:16086329|PMID:16141001|PMID:21031596|PMID:25741868|PMID:26387595|PMID:28492532|PMID:31831025|PMID:3196484 10041510 CV186752 NM_000466.3(PEX1):c.2730del (p.Leu910fs) variant DOID:0080476 peroxisome biogenesis disorder 1A IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1a PMID:11389485|PMID:15542397|PMID:16086329|PMID:16141001|PMID:21031596|PMID:25741868|PMID:26387595|PMID:28492532|PMID:31831025|PMID:3196484 10041510 CV186752 NM_000466.3(PEX1):c.2730del (p.Leu910fs) variant DOID:0080623 Heimler syndrome 1 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 1C PMID:11389485|PMID:15542397|PMID:16086329|PMID:16141001|PMID:21031596|PMID:25741868|PMID:26387595|PMID:28492532|PMID:31831025|PMID:3196484 10041510 CV186752 NM_000466.3(PEX1):c.2730del (p.Leu910fs) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11389485|PMID:15542397|PMID:16086329|PMID:16141001|PMID:21031596|PMID:25741868|PMID:26387595|PMID:28492532|PMID:31831025|PMID:3196484 10041510 CV186752 NM_000466.3(PEX1):c.2730del (p.Leu910fs) variant DOID:9006420 Zellweger Leukodystrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Zellweger leukodystrophy PMID:11389485|PMID:15542397|PMID:16086329|PMID:16141001|PMID:21031596|PMID:25741868|PMID:26387595|PMID:28492532|PMID:31831025|PMID:3196484 10041510 CV186752 NM_000466.3(PEX1):c.2730del (p.Leu910fs) variant DOID:905 Zellweger syndrome IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Zellweger Spectrum PMID:11389485|PMID:15542397|PMID:16086329|PMID:16141001|PMID:21031596|PMID:25741868|PMID:26387595|PMID:28492532|PMID:31831025|PMID:3196484 10041512 CV186780 NM_000035.4(ALDOB):c.113-1_115del variant DOID:5204 fructose-1,6-bisphosphatase deficiency IAGP D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fructose-1-phosphate aldolase deficiency PMID:15880727|PMID:16199547|PMID:1772121|PMID:18541450|PMID:2349937|PMID:25741868|PMID:28492532|PMID:34162028|PMID:9610797 10041512 CV186780 NM_000035.4(ALDOB):c.113-1_115del variant DOID:9869 hereditary fructose intolerance syndrome IAGP D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Fructose-1,6-bisphosphate aldolase B deficiency PMID:15880727|PMID:16199547|PMID:1772121|PMID:18541450|PMID:2349937|PMID:25741868|PMID:28492532|PMID:34162028|PMID:9610797 10041513 CV186700 NM_000288.4(PEX7):c.188+1G>C variant DOID:0081438 Peroxisome biogenesis disorder 9B IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 9B PMID:12325024|PMID:12522768|PMID:16199547|PMID:20301447|PMID:25741868|PMID:28492532 10041513 CV186700 NM_000288.4(PEX7):c.188+1G>C variant DOID:0110851 rhizomelic chondrodysplasia punctata type 1 IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata type 1 PMID:12325024|PMID:12522768|PMID:16199547|PMID:20301447|PMID:25741868|PMID:28492532 10041513 CV186700 NM_000288.4(PEX7):c.188+1G>C variant DOID:10582 Refsum disease IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Phytanic acid storage disease PMID:12325024|PMID:12522768|PMID:16199547|PMID:20301447|PMID:25741868|PMID:28492532 10041514 CV186658 NM_000030.3(AGXT):c.653C>T (p.Ser218Leu) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:12899834|PMID:15963748|PMID:16971151|PMID:18282470|PMID:20573805|PMID:22018727|PMID:25629080|PMID:25741868|PMID:28492532|PMID:28553045|PMID:28660284 10041515 CV187067 NM_015166.4(MLC1):c.714+1G>A variant DOID:0080316 megalencephalic leukoencephalopathy with subcortical cysts 1 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 1 PMID:11254442|PMID:16652334|PMID:21145992|PMID:25741868|PMID:27322623|PMID:28492532 10041517 CV186696 NM_006261.5(PROP1):c.334C>T (p.Arg112Ter) variant DOID:0061020 combined pituitary hormone deficiency 2 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 2 PMID:16759034|PMID:20381582|PMID:22111336|PMID:25741868|PMID:26608600|PMID:28492532 10041518 CV186838 NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter) variant DOID:0110123 Bardet-Biedl syndrome 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 PMID:12118255|PMID:12677556|PMID:15770229|PMID:20177705|PMID:20876674|PMID:21517826|PMID:21520335|PMID:25741868|PMID:27032803|PMID:28492532|PMID:32165824|PMID:32451492 10041518 CV186838 NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter) variant DOID:1935 Bardet-Biedl syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:12677556|PMID:15770229|PMID:20177705|PMID:20876674|PMID:21517826|PMID:21520335|PMID:25741868|PMID:27032803|PMID:28492532|PMID:32165824|PMID:32451492 10041520 CV186652 NM_000030.3(AGXT):c.122G>T (p.Gly41Val) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:10394939|PMID:10453743|PMID:12899834|PMID:15802217|PMID:16971151|PMID:18282470|PMID:18448374|PMID:20133649|PMID:21176891|PMID:23229545|PMID:25741868|PMID:28492532|PMID:8101040 10041521 CV186663 NM_000030.3(AGXT):c.1049G>A (p.Gly350Asp) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:15961945|PMID:18282470|PMID:22018727|PMID:22923379|PMID:23551880|PMID:25741868|PMID:28492532|PMID:30341509|PMID:35149915|PMID:9604803 10041521 CV186663 NM_000030.3(AGXT):c.1049G>A (p.Gly350Asp) variant DOID:2977 primary hyperoxaluria IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria PMID:15961945|PMID:18282470|PMID:22018727|PMID:22923379|PMID:23551880|PMID:25741868|PMID:28492532|PMID:30341509|PMID:35149915|PMID:9604803 10041522 CV186626 NM_000098.3(CPT2):c.1348A>T (p.Arg450Ter) variant DOID:0060235 carnitine palmitoyltransferase II deficiency IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency PMID:16781677|PMID:16996287|PMID:20810031|PMID:21913903|PMID:25741868|PMID:28492532 10041522 CV186626 NM_000098.3(CPT2):c.1348A>T (p.Arg450Ter) variant DOID:9007668 Carnitine Palmitoyltransferase II Deficiency, Infantile IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, infantile PMID:16781677|PMID:16996287|PMID:20810031|PMID:21913903|PMID:25741868|PMID:28492532 10041523 CV186640 NM_000642.3(AGL):c.664+3A>G variant DOID:2748 glycogen storage disease III IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Glycogen storage disease type III PMID:12442284|PMID:16705713|PMID:17576681|PMID:21691223|PMID:25741868|PMID:26913919|PMID:28492532|PMID:9536098 10041523 CV186640 NM_000642.3(AGL):c.664+3A>G variant DOID:9000150 Glycogen Storage Disease IIIA IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IIIa PMID:12442284|PMID:16705713|PMID:17576681|PMID:21691223|PMID:25741868|PMID:26913919|PMID:28492532|PMID:9536098 10041524 CV186909 NM_000053.4(ATP7B):c.524_525del (p.Lys175fs) variant DOID:893 Wilson disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Wilson disease PMID:10441329|PMID:16283883|PMID:17680703|PMID:23518715|PMID:25741868|PMID:27935710|PMID:28492532|PMID:29649982|PMID:31000363|PMID:31059521|PMID:34400371 10041525 CV186642 NM_000642.3(AGL):c.1391dup (p.Asp465fs) variant DOID:2748 glycogen storage disease III IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Glycogen storage disease type III PMID:18617770|PMID:19299494|PMID:19754354|PMID:28492532 10041526 CV186749 NM_000466.3(PEX1):c.2926+2T>C variant DOID:0050444 infantile Refsum disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:11389485|PMID:16086329|PMID:16141001|PMID:16199547|PMID:19105186|PMID:21031596|PMID:25741868|PMID:26387595|PMID:28492532|PMID:31831025|PMID:33083013|PMID:9398847 10041526 CV186749 NM_000466.3(PEX1):c.2926+2T>C variant DOID:0080476 peroxisome biogenesis disorder 1A IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1a PMID:11389485|PMID:16086329|PMID:16141001|PMID:16199547|PMID:19105186|PMID:21031596|PMID:25741868|PMID:26387595|PMID:28492532|PMID:31831025|PMID:33083013|PMID:9398847 10041526 CV186749 NM_000466.3(PEX1):c.2926+2T>C variant DOID:0080623 Heimler syndrome 1 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 1C PMID:11389485|PMID:16086329|PMID:16141001|PMID:16199547|PMID:19105186|PMID:21031596|PMID:25741868|PMID:26387595|PMID:28492532|PMID:31831025|PMID:33083013|PMID:9398847 10041526 CV186749 NM_000466.3(PEX1):c.2926+2T>C variant DOID:0081240 peroxisome biogenesis disorder 1B IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1B PMID:11389485|PMID:16086329|PMID:16141001|PMID:16199547|PMID:19105186|PMID:21031596|PMID:25741868|PMID:26387595|PMID:28492532|PMID:31831025|PMID:33083013|PMID:9398847 10041526 CV186749 NM_000466.3(PEX1):c.2926+2T>C variant DOID:9006420 Zellweger Leukodystrophy IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Zellweger leukodystrophy PMID:11389485|PMID:16086329|PMID:16141001|PMID:16199547|PMID:19105186|PMID:21031596|PMID:25741868|PMID:26387595|PMID:28492532|PMID:31831025|PMID:33083013|PMID:9398847 10041526 CV186749 NM_000466.3(PEX1):c.2926+2T>C variant DOID:905 Zellweger syndrome IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:11389485|PMID:16086329|PMID:16141001|PMID:16199547|PMID:19105186|PMID:21031596|PMID:25741868|PMID:26387595|PMID:28492532|PMID:31831025|PMID:33083013|PMID:9398847 10041527 CV186611 NM_000228.3(LAMB3):c.1365_1366del (p.Asn456fs) variant DOID:0060737 junctional epidermolysis bullosa Herlitz type IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of Herlitz PMID:11023379|PMID:16473856|PMID:22931927|PMID:25741868|PMID:28492532|PMID:9690563 10041527 CV186611 NM_000228.3(LAMB3):c.1365_1366del (p.Asn456fs) variant DOID:0060738 junctional epidermolysis bullosa non-Herlitz type IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type PMID:11023379|PMID:16473856|PMID:22931927|PMID:25741868|PMID:28492532|PMID:9690563 10041527 CV186611 NM_000228.3(LAMB3):c.1365_1366del (p.Asn456fs) variant DOID:0110054 amelogenesis imperfecta type 1A IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta type 1A PMID:11023379|PMID:16473856|PMID:22931927|PMID:25741868|PMID:28492532|PMID:9690563 10041528 CV186964 NM_000049.4(ASPA):c.244_245del (p.Met82fs) variant DOID:3613 Canavan disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spongy degeneration of central nervous system PMID:12638939|PMID:16854607|PMID:17027983|PMID:28492532 10041528 CV186964 NM_000049.4(ASPA):c.244_245del (p.Met82fs) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12638939|PMID:16854607|PMID:17027983|PMID:28492532 10041529 CV186986 NM_000018.4(ACADVL):c.887_888del (p.Pro296fs) variant DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:10077518|PMID:11590124|PMID:12122118|PMID:23480858|PMID:25741868|PMID:26385305|PMID:28492532|PMID:30194637|PMID:31620161|PMID:9973285 10041530 CV186960 NM_000382.3(ALDH3A2):c.1100del (p.Asn367fs) variant DOID:14501 Sjogren-Larsson syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Sjögren-Larsson syndrome PMID:10577908 10041532 CV186877 NM_000053.4(ATP7B):c.3649_3654del (p.Val1217_Leu1218del) variant DOID:893 Wilson disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Wilson disease PMID:16207219|PMID:16234011|PMID:17154398|PMID:17272994|PMID:19118915|PMID:19596473|PMID:20082719|PMID:22677543|PMID:25014046|PMID:25741868|PMID:28492532|PMID:31708252|PMID:34400371|PMID:35245129|PMID:7626145|PMID:8980283|PMID:9482578|PMID:9671269 10041533 CV186634 NM_000016.6(ACADM):c.1045C>T (p.Arg349Ter) variant DOID:0080153 medium chain acyl-CoA dehydrogenase deficiency IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Medium-chain acyl-coenzyme A dehydrogenase deficiency PMID:16121256|PMID:20434380|PMID:23829193|PMID:25741868|PMID:28492532|PMID:31033143|PMID:8198141 10041534 CV186632 NM_000016.6(ACADM):c.977T>C (p.Met326Thr) variant DOID:0080153 medium chain acyl-CoA dehydrogenase deficiency IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Medium-chain acyl-coenzyme A dehydrogenase deficiency PMID:18767270|PMID:23028790|PMID:25741868|PMID:28492532|PMID:32793418|PMID:8198141|PMID:8535441|PMID:9158144 10041535 CV186655 NM_000030.3(AGXT):c.346G>A (p.Gly116Arg) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:10394939|PMID:10453743|PMID:11562405|PMID:17460142|PMID:24988064|PMID:25629080|PMID:25741868|PMID:26252291|PMID:28492532|PMID:33691640 10041536 CV186793 NM_000136.3(FANCC):c.520C>T (p.Arg174Ter) variant DOID:0111087 Fanconi anemia complementation group C IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group C PMID:09452030|PMID:12670332|PMID:17924555|PMID:25741868|PMID:28492532|PMID:29922827|PMID:9452030 10041536 CV186793 NM_000136.3(FANCC):c.520C>T (p.Arg174Ter) variant DOID:13636 Fanconi anemia IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:09452030|PMID:12670332|PMID:17924555|PMID:25741868|PMID:28492532|PMID:29922827|PMID:9452030 10041536 CV186793 NM_000136.3(FANCC):c.520C>T (p.Arg174Ter) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:09452030|PMID:12670332|PMID:17924555|PMID:25741868|PMID:28492532|PMID:29922827|PMID:9452030 10041538 CV186764 NM_019098.5(CNGB3):c.1578+1G>A variant DOID:0110008 achromatopsia 3 IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Total colorblindness with myopia PMID:10958649|PMID:12187429|PMID:15657609|PMID:16199547|PMID:24148654|PMID:25525159|PMID:25741868|PMID:28492532|PMID:28795510|PMID:30418171|PMID:31429209|PMID:31589614|PMID:31964843|PMID:32037395|PMID:32531858|PMID:33546218|PMID:34449556|PMID:35456422|PMID:36460718|PMID:37734845 10041538 CV186764 NM_019098.5(CNGB3):c.1578+1G>A variant DOID:13911 achromatopsia IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Achromatopsia PMID:10958649|PMID:12187429|PMID:15657609|PMID:16199547|PMID:24148654|PMID:25525159|PMID:25741868|PMID:28492532|PMID:28795510|PMID:30418171|PMID:31429209|PMID:31589614|PMID:31964843|PMID:32037395|PMID:32531858|PMID:33546218|PMID:34449556|PMID:35456422|PMID:36460718|PMID:37734845 10041538 CV186764 NM_019098.5(CNGB3):c.1578+1G>A variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10958649|PMID:12187429|PMID:15657609|PMID:16199547|PMID:24148654|PMID:25525159|PMID:25741868|PMID:28492532|PMID:28795510|PMID:30418171|PMID:31429209|PMID:31589614|PMID:31964843|PMID:32037395|PMID:32531858|PMID:33546218|PMID:34449556|PMID:35456422|PMID:36460718|PMID:37734845 10041539 CV186946 NM_000057.4(BLM):c.581_582del (p.Phe193_Phe194insTer) variant DOID:2717 Bloom syndrome IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:17407155|PMID:18471088|PMID:25741868|PMID:28492532 10041539 CV186946 NM_000057.4(BLM):c.581_582del (p.Phe193_Phe194insTer) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17407155|PMID:18471088|PMID:25741868|PMID:28492532 10041540 CV187028 NM_000271.5(NPC1):c.2764C>T (p.Gln922Ter) variant DOID:0070113 Niemann-Pick disease type C1 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease type C1 PMID:12401890 10041541 CV186609 NM_000228.3(LAMB3):c.1978C>T (p.Arg660Ter) variant DOID:0060737 junctional epidermolysis bullosa Herlitz type IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of Herlitz PMID:11023379|PMID:12813757|PMID:16473856|PMID:21801158|PMID:25741868|PMID:28492532|PMID:8824879|PMID:9160387 10041541 CV186609 NM_000228.3(LAMB3):c.1978C>T (p.Arg660Ter) variant DOID:0110054 amelogenesis imperfecta type 1A IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta type 1A PMID:11023379|PMID:12813757|PMID:16473856|PMID:21801158|PMID:25741868|PMID:28492532|PMID:8824879|PMID:9160387 10041542 CV186659 NM_000030.3(AGXT):c.737G>A (p.Trp246Ter) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:17460142|PMID:17495019|PMID:19479957|PMID:24988064|PMID:25741868|PMID:28492532 10041543 CV186630 NM_000016.6(ACADM):c.449_452del (p.Thr150fs) variant DOID:0080153 medium chain acyl-CoA dehydrogenase deficiency IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Medium-chain acyl-coenzyme A dehydrogenase deficiency PMID:15915086|PMID:16121256|PMID:18241067|PMID:19064330|PMID:19699128|PMID:20434380|PMID:21239873|PMID:22542437|PMID:22796001|PMID:24966162|PMID:25503862|PMID:25741868|PMID:26467025|PMID:26947917|PMID:27856190|PMID:28492532|PMID:33841490 10041544 CV186912 NM_000053.4(ATP7B):c.254G>T (p.Gly85Val) variant DOID:893 Wilson disease IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Wilson disease PMID:14986826|PMID:17919502|PMID:19937698|PMID:22240481|PMID:22308153|PMID:23518715|PMID:25741868|PMID:28492532|PMID:30702195|PMID:32043565|PMID:9671269 10041546 CV186625 NM_000098.3(CPT2):c.38del (p.Gly13fs) variant DOID:0060235 carnitine palmitoyltransferase II deficiency IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency PMID:16781677|PMID:16996287|PMID:18550408|PMID:25741868|PMID:28492532 10041546 CV186625 NM_000098.3(CPT2):c.38del (p.Gly13fs) variant DOID:9007668 Carnitine Palmitoyltransferase II Deficiency, Infantile IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, infantile PMID:16781677|PMID:16996287|PMID:18550408|PMID:25741868|PMID:28492532 10041547 CV186751 NM_000466.3(PEX1):c.2916del (p.Gly973fs) variant DOID:0050444 infantile Refsum disease IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Infantile form of phytanic acid storage disease PMID:12032265|PMID:12402331|PMID:15542397|PMID:16086329|PMID:16141001|PMID:17055079|PMID:19105186|PMID:21031596|PMID:21846392|PMID:25741868|PMID:26319495|PMID:26387595|PMID:28492532|PMID:29419819|PMID:31831025|PMID:33708531 10041547 CV186751 NM_000466.3(PEX1):c.2916del (p.Gly973fs) variant DOID:0080476 peroxisome biogenesis disorder 1A IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1a PMID:12032265|PMID:12402331|PMID:15542397|PMID:16086329|PMID:16141001|PMID:17055079|PMID:19105186|PMID:21031596|PMID:21846392|PMID:25741868|PMID:26319495|PMID:26387595|PMID:28492532|PMID:29419819|PMID:31831025|PMID:33708531 10041547 CV186751 NM_000466.3(PEX1):c.2916del (p.Gly973fs) variant DOID:0080623 Heimler syndrome 1 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 1C PMID:12032265|PMID:12402331|PMID:15542397|PMID:16086329|PMID:16141001|PMID:17055079|PMID:19105186|PMID:21031596|PMID:21846392|PMID:25741868|PMID:26319495|PMID:26387595|PMID:28492532|PMID:29419819|PMID:31831025|PMID:33708531 10041547 CV186751 NM_000466.3(PEX1):c.2916del (p.Gly973fs) variant DOID:0081240 peroxisome biogenesis disorder 1B IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1B PMID:12032265|PMID:12402331|PMID:15542397|PMID:16086329|PMID:16141001|PMID:17055079|PMID:19105186|PMID:21031596|PMID:21846392|PMID:25741868|PMID:26319495|PMID:26387595|PMID:28492532|PMID:29419819|PMID:31831025|PMID:33708531 10041547 CV186751 NM_000466.3(PEX1):c.2916del (p.Gly973fs) variant DOID:9006420 Zellweger Leukodystrophy IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Zellweger leukodystrophy PMID:12032265|PMID:12402331|PMID:15542397|PMID:16086329|PMID:16141001|PMID:17055079|PMID:19105186|PMID:21031596|PMID:21846392|PMID:25741868|PMID:26319495|PMID:26387595|PMID:28492532|PMID:29419819|PMID:31831025|PMID:33708531 10041547 CV186751 NM_000466.3(PEX1):c.2916del (p.Gly973fs) variant DOID:905 Zellweger syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum PMID:12032265|PMID:12402331|PMID:15542397|PMID:16086329|PMID:16141001|PMID:17055079|PMID:19105186|PMID:21031596|PMID:21846392|PMID:25741868|PMID:26319495|PMID:26387595|PMID:28492532|PMID:29419819|PMID:31831025|PMID:33708531 10041548 CV186639 NM_000642.3(AGL):c.118C>T (p.Gln40Ter) variant DOID:2748 glycogen storage disease III IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Glycogen storage disease type III PMID:19299494|PMID:20648714|PMID:23430941|PMID:25451272|PMID:25741868|PMID:28492532|PMID:31661040 10041549 CV186934 NM_000520.6(HEXA):c.1307_1308del (p.Ile436fs) variant DOID:3320 Tay-Sachs disease IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:1833974|PMID:22441121|PMID:28492532|PMID:8490625 10041550 CV186657 NM_000030.3(AGXT):c.568G>A (p.Gly190Arg) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:10541294|PMID:15849466|PMID:15961946|PMID:17460142|PMID:18282470|PMID:23810941|PMID:24988064|PMID:25741868|PMID:27568336|PMID:27935012|PMID:28492532|PMID:9604803 10041551 CV186950 NM_000057.4(BLM):c.3028del (p.Asp1010fs) variant DOID:2717 Bloom syndrome IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:17407155|PMID:25741868|PMID:28492532|PMID:31816118 10041551 CV186950 NM_000057.4(BLM):c.3028del (p.Asp1010fs) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17407155|PMID:25741868|PMID:28492532|PMID:31816118 10041552 CV186961 NM_000049.4(ASPA):c.32del (p.Ile11fs) variant DOID:3613 Canavan disease IAGP D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Spongy degeneration of central nervous system PMID:28101991|PMID:8659549 10041553 CV186883 NM_000053.4(ATP7B):c.3517G>A (p.Glu1173Lys) variant DOID:893 Wilson disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Wilson disease PMID:10544227|PMID:11043508|PMID:11405812|PMID:11775208|PMID:14986826|PMID:17317524|PMID:17680703|PMID:18034201|PMID:20333758|PMID:22692182|PMID:23275100|PMID:23843956|PMID:24718822|PMID:25741868|PMID:27022412|PMID:28492532|PMID:30702195|PMID:35245129 10041554 CV186647 NM_000642.3(AGL):c.4221dup (p.Leu1408fs) variant DOID:2748 glycogen storage disease III IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glycogen storage disease type III PMID:19299494|PMID:25741868|PMID:28492532|PMID:9584265 10041555 CV186792 NM_000136.3(FANCC):c.844-1G>C variant DOID:0111087 Fanconi anemia complementation group C IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group C PMID:17924555|PMID:22720145|PMID:25741868|PMID:28492532|PMID:29922827|PMID:30031030|PMID:31589614|PMID:32923857|PMID:33050356|PMID:33084842|PMID:33471991|PMID:33780288 10041555 CV186792 NM_000136.3(FANCC):c.844-1G>C variant DOID:13636 Fanconi anemia IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:17924555|PMID:22720145|PMID:25741868|PMID:28492532|PMID:29922827|PMID:30031030|PMID:31589614|PMID:32923857|PMID:33050356|PMID:33084842|PMID:33471991|PMID:33780288 10041555 CV186792 NM_000136.3(FANCC):c.844-1G>C variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17924555|PMID:22720145|PMID:25741868|PMID:28492532|PMID:29922827|PMID:30031030|PMID:31589614|PMID:32923857|PMID:33050356|PMID:33084842|PMID:33471991|PMID:33780288 10041556 CV186880 NM_000053.4(ATP7B):c.3556+1G>A variant DOID:893 Wilson disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Wilson disease PMID:10441329|PMID:16199547|PMID:16283883|PMID:17629589|PMID:25525159|PMID:25741868|PMID:26799313|PMID:28492532|PMID:35444691|PMID:7626145|PMID:7762553 10041557 CV186879 NM_000053.4(ATP7B):c.3598C>T (p.Gln1200Ter) variant DOID:893 Wilson disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Wilson disease PMID:10441329|PMID:16283883|PMID:17317524|PMID:23235335|PMID:28492532|PMID:29649982|PMID:31059521 10041558 CV186892 NM_000053.4(ATP7B):c.2828G>A (p.Gly943Asp) variant DOID:893 Wilson disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Wilson disease PMID:10942420|PMID:11043508|PMID:11243728|PMID:11405812|PMID:14966923|PMID:16603785|PMID:16696937|PMID:18034201|PMID:20931554|PMID:21034864|PMID:21610751|PMID:21645214|PMID:21796144|PMID:23235335|PMID:23333878|PMID:25741868|PMID:26483271|PMID:27022412|PMID:27398169|PMID:27930511|PMID:28212618|PMID:28492532|PMID:30655162|PMID:7626145|PMID:9829905 10041559 CV187064 NM_000383.4(AIRE):c.232T>C (p.Trp78Arg) variant DOID:0050167 autoimmune polyendocrine syndrome type 1 IAGP D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 PMID:11524733|PMID:11836330|PMID:14974083|PMID:15712268|PMID:1836330|PMID:18616706|PMID:20185822|PMID:20407228|PMID:20718774|PMID:21295522|PMID:21508664|PMID:22104652|PMID:25741868|PMID:27048654|PMID:28492532|PMID:31589614 10041560 CV186671 NM_000187.4(HGD):c.652del variant DOID:9270 alkaptonuria IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:11001939|PMID:12501223|PMID:16085442|PMID:19862842|PMID:23519186|PMID:28492532 10041561 CV186697 NM_006261.5(PROP1):c.310del (p.Arg104fs) variant DOID:0061020 combined pituitary hormone deficiency 2 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 2 PMID:15941866|PMID:19128366|PMID:20381582|PMID:25741868|PMID:28492532 10041562 CV187033 NM_000528.4(MAN2B1):c.1383C>G (p.Tyr461Ter) variant DOID:3413 alpha-mannosidosis IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:17979865|PMID:19958498|PMID:22161967|PMID:25741868|PMID:28492532|PMID:9915946 10041563 CV187046 NM_004646.4(NPHS1):c.3442C>T (p.Gln1148Ter) variant DOID:0080390 nephrotic syndrome type 1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome PMID:11317351|PMID:11562357|PMID:11854170|PMID:12039988|PMID:20172850|PMID:23949594|PMID:24742477|PMID:24902943|PMID:25741868|PMID:28117080|PMID:28492532 10041564 CV186702 NM_000288.4(PEX7):c.618G>A (p.Trp206Ter) variant DOID:0081438 Peroxisome biogenesis disorder 9B IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 9B PMID:12325024|PMID:12522768|PMID:20301447|PMID:21465523|PMID:22057399|PMID:25741868|PMID:26467025|PMID:28492532 10041564 CV186702 NM_000288.4(PEX7):c.618G>A (p.Trp206Ter) variant DOID:0110851 rhizomelic chondrodysplasia punctata type 1 IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata type 1 PMID:12325024|PMID:12522768|PMID:20301447|PMID:21465523|PMID:22057399|PMID:25741868|PMID:26467025|PMID:28492532 10041565 CV186695 NM_000112.4(SLC26A2):c.451del (p.Tyr151fs) variant DOID:0070300 multiple epiphyseal dysplasia 4 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Multiple epiphyseal dysplasia with bilayered patellae PMID:10482955|PMID:11241838|PMID:25741868|PMID:28492532|PMID:7923357|PMID:8528239 10041565 CV186695 NM_000112.4(SLC26A2):c.451del (p.Tyr151fs) variant DOID:0080055 achondrogenesis type IB IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Achondrogenesis Fraccaro type PMID:10482955|PMID:11241838|PMID:25741868|PMID:28492532|PMID:7923357|PMID:8528239 10041565 CV186695 NM_000112.4(SLC26A2):c.451del (p.Tyr151fs) variant DOID:14687 diastrophic dysplasia IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Diastrophic dwarfism PMID:10482955|PMID:11241838|PMID:25741868|PMID:28492532|PMID:7923357|PMID:8528239 10041565 CV186695 NM_000112.4(SLC26A2):c.451del (p.Tyr151fs) variant DOID:9006897 Atelosteogenesis Type 2 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Atelosteogenesis type 2 PMID:10482955|PMID:11241838|PMID:25741868|PMID:28492532|PMID:7923357|PMID:8528239 10041566 CV186818 NM_000352.6(ABCC8):c.2116+2T>C variant DOID:0050524 maturity-onset diabetes of the young IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:16199547|PMID:17389331|PMID:17919176|PMID:20685672|PMID:20922570|PMID:21738553|PMID:23345197|PMID:25741868|PMID:28492532|PMID:31216263|PMID:32376986|PMID:33013711|PMID:38095268|PMID:38513803 10041566 CV186818 NM_000352.6(ABCC8):c.2116+2T>C variant DOID:0070219 familial hyperinsulinemic hypoglycemia 1 IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 PMID:16199547|PMID:17389331|PMID:17919176|PMID:20685672|PMID:20922570|PMID:21738553|PMID:23345197|PMID:25741868|PMID:28492532|PMID:31216263|PMID:32376986|PMID:33013711|PMID:38095268|PMID:38513803 10041566 CV186818 NM_000352.6(ABCC8):c.2116+2T>C variant DOID:11717 neonatal diabetes mellitus IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Neonatal diabetes mellitus PMID:16199547|PMID:17389331|PMID:17919176|PMID:20685672|PMID:20922570|PMID:21738553|PMID:23345197|PMID:25741868|PMID:28492532|PMID:31216263|PMID:32376986|PMID:33013711|PMID:38095268|PMID:38513803 10041567 CV186958 NM_000382.3(ALDH3A2):c.798+5G>A variant DOID:14501 Sjogren-Larsson syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sjögren-Larsson syndrome PMID:10577908|PMID:17576681|PMID:28492532|PMID:9536098 10041568 CV186641 NM_000642.3(AGL):c.1384del (p.Trp461_Val462insTer) variant DOID:2748 glycogen storage disease III IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Glycogen storage disease type III PMID:19299494|PMID:20648714|PMID:25741868|PMID:28492532 10041569 CV186942 NM_000137.4(FAH):c.192+1G>T variant DOID:0050726 tyrosinemia type I IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Tyrosinemia type I PMID:16199547|PMID:25681080|PMID:25741868|PMID:28492532|PMID:9101289|PMID:9633815 10041570 CV187075 NR_003051.3(RMRP):n.64C>T variant DOID:0050640 anauxetic dysplasia 1 IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia 1 PMID:12107819|PMID:14569125|PMID:16244706|PMID:17189938|PMID:17701897|PMID:20375313|PMID:25741868|PMID:28492532 10041570 CV187075 NR_003051.3(RMRP):n.64C>T variant DOID:0080942 anauxetic dysplasia IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Anauxetic dysplasia PMID:12107819|PMID:14569125|PMID:16244706|PMID:17189938|PMID:17701897|PMID:20375313|PMID:25741868|PMID:28492532 10041570 CV187075 NR_003051.3(RMRP):n.64C>T variant DOID:14773 cartilage-hair hypoplasia IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Metaphyseal chondrodysplasia, McKusick type PMID:12107819|PMID:14569125|PMID:16244706|PMID:17189938|PMID:17701897|PMID:20375313|PMID:25741868|PMID:28492532 10041571 CV186904 NM_000053.4(ATP7B):c.1782del (p.Thr593_Tyr594insTer) variant DOID:893 Wilson disease IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Wilson disease PMID:10441329|PMID:10544227|PMID:16283883|PMID:19172127|PMID:20967755|PMID:22940187|PMID:24661374|PMID:25741868|PMID:28492532|PMID:8533760 10041572 CV186685 NM_000128.4(F11):c.730C>T (p.Gln244Ter) variant DOID:2229 factor XI deficiency IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary factor XI deficiency disease PMID:16787881|PMID:21668437|PMID:23929304|PMID:24982842|PMID:28492532 10041573 CV186820 NM_000352.6(ABCC8):c.291-2A>G variant DOID:0050524 maturity-onset diabetes of the young IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:16199547|PMID:16613899|PMID:16885549|PMID:18025408|PMID:18981553|PMID:20685672|PMID:21989597|PMID:23275527|PMID:23345197|PMID:25741868|PMID:27538677|PMID:28492532|PMID:32027066|PMID:32792356 10041573 CV186820 NM_000352.6(ABCC8):c.291-2A>G variant DOID:0060334 transient neonatal diabetes mellitus IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Transient neonatal diabetes mellitus PMID:16199547|PMID:16613899|PMID:16885549|PMID:18025408|PMID:18981553|PMID:20685672|PMID:21989597|PMID:23275527|PMID:23345197|PMID:25741868|PMID:27538677|PMID:28492532|PMID:32027066|PMID:32792356 10041573 CV186820 NM_000352.6(ABCC8):c.291-2A>G variant DOID:0070219 familial hyperinsulinemic hypoglycemia 1 IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 PMID:16199547|PMID:16613899|PMID:16885549|PMID:18025408|PMID:18981553|PMID:20685672|PMID:21989597|PMID:23275527|PMID:23345197|PMID:25741868|PMID:27538677|PMID:28492532|PMID:32027066|PMID:32792356 10041573 CV186820 NM_000352.6(ABCC8):c.291-2A>G variant DOID:0111099 maturity-onset diabetes of the young type 1 IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:16199547|PMID:16613899|PMID:16885549|PMID:18025408|PMID:18981553|PMID:20685672|PMID:21989597|PMID:23275527|PMID:23345197|PMID:25741868|PMID:27538677|PMID:28492532|PMID:32027066|PMID:32792356 10041573 CV186820 NM_000352.6(ABCC8):c.291-2A>G variant DOID:13317 hyperinsulinemic hypoglycemia IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Persistent Hyperinsulinemia Hypoglycemia of Infancy PMID:16199547|PMID:16613899|PMID:16885549|PMID:18025408|PMID:18981553|PMID:20685672|PMID:21989597|PMID:23275527|PMID:23345197|PMID:25741868|PMID:27538677|PMID:28492532|PMID:32027066|PMID:32792356 10041573 CV186820 NM_000352.6(ABCC8):c.291-2A>G variant DOID:9352 type 2 diabetes mellitus IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:16199547|PMID:16613899|PMID:16885549|PMID:18025408|PMID:18981553|PMID:20685672|PMID:21989597|PMID:23275527|PMID:23345197|PMID:25741868|PMID:27538677|PMID:28492532|PMID:32027066|PMID:32792356 10041574 CV186624 NM_017739.4(POMGNT1):c.1011dup (p.Asp338Ter) variant DOID:0050560 Walker-Warburg syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscle eye brain disease PMID:12588800|PMID:12849864|PMID:19299310|PMID:20816175|PMID:21447391|PMID:23453855|PMID:25741868|PMID:26908613|PMID:27391550|PMID:28492532 10041574 CV186624 NM_017739.4(POMGNT1):c.1011dup (p.Asp338Ter) variant DOID:0110292 autosomal recessive limb-girdle muscular dystrophy type 2O IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2O PMID:12588800|PMID:12849864|PMID:19299310|PMID:20816175|PMID:21447391|PMID:23453855|PMID:25741868|PMID:26908613|PMID:27391550|PMID:28492532 10041574 CV186624 NM_017739.4(POMGNT1):c.1011dup (p.Asp338Ter) variant DOID:0111236 congenital muscular dystrophy-dystroglycanopathy type A3 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 PMID:12588800|PMID:12849864|PMID:19299310|PMID:20816175|PMID:21447391|PMID:23453855|PMID:25741868|PMID:26908613|PMID:27391550|PMID:28492532 10041574 CV186624 NM_017739.4(POMGNT1):c.1011dup (p.Asp338Ter) variant DOID:0112374 muscular dystrophy-dystroglycanopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy PMID:12588800|PMID:12849864|PMID:19299310|PMID:20816175|PMID:21447391|PMID:23453855|PMID:25741868|PMID:26908613|PMID:27391550|PMID:28492532 10041574 CV186624 NM_017739.4(POMGNT1):c.1011dup (p.Asp338Ter) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:12588800|PMID:12849864|PMID:19299310|PMID:20816175|PMID:21447391|PMID:23453855|PMID:25741868|PMID:26908613|PMID:27391550|PMID:28492532 10041576 CV186760 NM_000466.3(PEX1):c.3G>A (p.Met1Ile) variant DOID:0080476 peroxisome biogenesis disorder 1A IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) PMID:21031596|PMID:28468868|PMID:28492532 10041576 CV186760 NM_000466.3(PEX1):c.3G>A (p.Met1Ile) variant DOID:9006420 Zellweger Leukodystrophy IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Zellweger leukodystrophy PMID:21031596|PMID:28468868|PMID:28492532 10041576 CV186760 NM_000466.3(PEX1):c.3G>A (p.Met1Ile) variant DOID:905 Zellweger syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Zellweger Spectrum PMID:21031596|PMID:28468868|PMID:28492532 10041577 CV186882 NM_000053.4(ATP7B):c.3552dup (p.Asp1185Ter) variant DOID:893 Wilson disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Wilson disease PMID:21707886|PMID:23518715|PMID:25130000|PMID:25741868|PMID:31059521|PMID:8298641 10041578 CV186903 NM_000053.4(ATP7B):c.1924G>C (p.Asp642His) variant DOID:893 Wilson disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Wilson disease PMID:17919502|PMID:18203200|PMID:18483695|PMID:21610751|PMID:21682854|PMID:22308153|PMID:24706876|PMID:25525159|PMID:25741868|PMID:28492532|PMID:29540233|PMID:9671269 10041579 CV186905 NM_000053.4(ATP7B):c.1745_1746del (p.Ile582fs) variant DOID:0050952 spastic ataxia IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:10441329|PMID:10544227|PMID:16283883|PMID:17317524|PMID:17949296|PMID:23518715|PMID:25741868|PMID:27398169|PMID:28492532|PMID:34240825|PMID:34400371|PMID:34470610|PMID:7626145 10041579 CV186905 NM_000053.4(ATP7B):c.1745_1746del (p.Ile582fs) variant DOID:630 genetic disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10441329|PMID:10544227|PMID:16283883|PMID:17317524|PMID:17949296|PMID:23518715|PMID:25741868|PMID:27398169|PMID:28492532|PMID:34240825|PMID:34400371|PMID:34470610|PMID:7626145 10041579 CV186905 NM_000053.4(ATP7B):c.1745_1746del (p.Ile582fs) variant DOID:893 Wilson disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Wilson disease PMID:10441329|PMID:10544227|PMID:16283883|PMID:17317524|PMID:17949296|PMID:23518715|PMID:25741868|PMID:27398169|PMID:28492532|PMID:34240825|PMID:34400371|PMID:34470610|PMID:7626145 10041580 CV186963 NM_000049.4(ASPA):c.237-2A>T variant DOID:3613 Canavan disease IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spongy degeneration of central nervous system PMID:12638939|PMID:16199547|PMID:16854607|PMID:23253610|PMID:25741868|PMID:28492532 10041581 CV186690 NM_000128.4(F11):c.1107C>A (p.Tyr369Ter) variant DOID:2229 factor XI deficiency IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Hereditary factor XI deficiency disease PMID:14508802|PMID:15026311|PMID:18446632|PMID:23929304|PMID:25681615|PMID:25741868|PMID:27067486|PMID:28492532|PMID:32118380|PMID:32220196|PMID:32333264|PMID:32464451|PMID:34799507 10041583 CV187027 NM_000271.5(NPC1):c.2801G>A (p.Arg934Gln) variant DOID:0070113 Niemann-Pick disease type C1 IAGP D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease type C1 PMID:10521290|PMID:11333381|PMID:12955717|PMID:12974729|PMID:15465421|PMID:16126423|PMID:17160617|PMID:25236789|PMID:25741868|PMID:28492532|PMID:3378364 10041584 CV187034 NM_000528.4(MAN2B1):c.1109G>A (p.Trp370Ter) variant DOID:3413 alpha-mannosidosis IAGP D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:22161967|PMID:25741868|PMID:28492532|PMID:9915946 10041585 CV186906 NM_000053.4(ATP7B):c.1285+2T>A variant DOID:893 Wilson disease IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Wilson disease PMID:10441329|PMID:10980554|PMID:16199547|PMID:16283883|PMID:25525159|PMID:25741868|PMID:28492532 10041586 CV186817 NM_000352.6(ABCC8):c.2124_2127del (p.Leu708_Thr709insTer) variant DOID:0050524 maturity-onset diabetes of the young IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Mason type diabetes PMID:16613899|PMID:16885549|PMID:18025408|PMID:18981553|PMID:20685672|PMID:21989597|PMID:27538677|PMID:32027066|PMID:32792356 10041586 CV186817 NM_000352.6(ABCC8):c.2124_2127del (p.Leu708_Thr709insTer) variant DOID:0060334 transient neonatal diabetes mellitus IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Transient neonatal diabetes mellitus PMID:16613899|PMID:16885549|PMID:18025408|PMID:18981553|PMID:20685672|PMID:21989597|PMID:27538677|PMID:32027066|PMID:32792356 10041586 CV186817 NM_000352.6(ABCC8):c.2124_2127del (p.Leu708_Thr709insTer) variant DOID:0070219 familial hyperinsulinemic hypoglycemia 1 IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 PMID:16613899|PMID:16885549|PMID:18025408|PMID:18981553|PMID:20685672|PMID:21989597|PMID:27538677|PMID:32027066|PMID:32792356 10041586 CV186817 NM_000352.6(ABCC8):c.2124_2127del (p.Leu708_Thr709insTer) variant DOID:13317 hyperinsulinemic hypoglycemia IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Persistent Hyperinsulinemia Hypoglycemia of Infancy PMID:16613899|PMID:16885549|PMID:18025408|PMID:18981553|PMID:20685672|PMID:21989597|PMID:27538677|PMID:32027066|PMID:32792356 10041587 CV186895 NM_000053.4(ATP7B):c.2668G>A (p.Val890Met) variant DOID:893 Wilson disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Wilson disease PMID:11216666|PMID:14986826|PMID:20517649|PMID:20958917|PMID:22308153|PMID:22484412|PMID:22677543|PMID:23235335|PMID:23486543|PMID:25741868|PMID:27022412|PMID:27982432|PMID:28492532|PMID:28753182|PMID:29637721|PMID:29979436|PMID:30230192|PMID:33879678|PMID:34002136|PMID:34240825|PMID:34400371 10041588 CV186680 NM_000128.4(F11):c.67C>T (p.Gln23Ter) variant DOID:2229 factor XI deficiency IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary factor XI deficiency disease PMID:21649796|PMID:23929304|PMID:24112640|PMID:25741868|PMID:28492532 10041589 CV186940 NM_000520.6(HEXA):c.2T>C (p.Met1Thr) variant DOID:3320 Tay-Sachs disease IAGP D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:11161796|PMID:16088929|PMID:25326635|PMID:25741868|PMID:28492532|PMID:3837850|PMID:8445615 10041590 CV186673 NM_000187.4(HGD):c.342+1G>T variant DOID:9270 alkaptonuria IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:10482952|PMID:12501223|PMID:16199547|PMID:19862842|PMID:21720873|PMID:25681086|PMID:25741868|PMID:28492532|PMID:9529363 10041591 CV186822 NM_000518.5(HBB):c.315+1G>C variant DOID:12241 beta thalassemia IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: beta Thalassemia PMID:17576681|PMID:2446680|PMID:27263053|PMID:28391758|PMID:28492532|PMID:7151176|PMID:8718703|PMID:9536098 10041592 CV186687 NM_000128.4(F11):c.908del (p.Gly303fs) variant DOID:2229 factor XI deficiency IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hereditary factor XI deficiency disease PMID:11895778|PMID:23929304|PMID:24112640|PMID:25741868|PMID:28492532|PMID:29178608|PMID:32581362 10041593 CV186831 NM_005609.4(PYGM):c.407del (p.Gly136fs) variant DOID:2746 glycogen storage disease V IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:16786513|PMID:18162322|PMID:19232494|PMID:22250184|PMID:28492532|PMID:8316268 10041594 CV187078 NM_000500.7:c.*28697972C>G variant DOID:9003733 Congenital Adrenal Hyperplasia due to 21 Hydroxylase Deficiency IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: 21-hydroxylase deficiency PMID:1644925|PMID:2845408|PMID:8081391 10041595 CV187079 NM_000500.7:c.*28698317T>A variant DOID:9003733 Congenital Adrenal Hyperplasia due to 21 Hydroxylase Deficiency IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: 21-hydroxylase deficiency PMID:19750867|PMID:21098686|PMID:22270556|PMID:23359698|PMID:24667412|PMID:24671123|PMID:3257825 10041596 CV187080 NM_000500.7:c.*28699001G>T variant DOID:9003733 Congenital Adrenal Hyperplasia due to 21 Hydroxylase Deficiency IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: 21-hydroxylase deficiency PMID:14513879|PMID:1644925|PMID:1864962|PMID:20661889|PMID:20926536|PMID:2249999|PMID:23359698|PMID:23359706 10041597 CV187081 NM_000500.7:c.*28697405C>T variant DOID:9003733 Congenital Adrenal Hyperplasia due to 21 Hydroxylase Deficiency IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: 21-hydroxylase deficiency PMID:16427797|PMID:1644925|PMID:2072928|PMID:23142378|PMID:23359698|PMID:9215318 10041598 CV187082 NM_000500.7:c.*28699312C>T variant DOID:9003733 Congenital Adrenal Hyperplasia due to 21 Hydroxylase Deficiency IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: 21-hydroxylase deficiency PMID:14715874|PMID:23359698|PMID:23769969|PMID:3267225 10041599 CV187083 NM_000500.7:c.*28699426C>T variant DOID:9003733 Congenital Adrenal Hyperplasia due to 21 Hydroxylase Deficiency IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: 21-hydroxylase deficiency PMID:10496074|PMID:21134444|PMID:2303461|PMID:23359698|PMID:24077358 10041600 CV187084 NM_000500.7:c.*28699080dupT variant DOID:9003733 Congenital Adrenal Hyperplasia due to 21 Hydroxylase Deficiency IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: 21-hydroxylase deficiency PMID:20233785|PMID:20661889|PMID:21117955|PMID:23359698 10041601 CV186692 NM_000128.4(F11):c.1313C>A (p.Ser438Ter) variant DOID:2229 factor XI deficiency IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary factor XI deficiency disease PMID:22159456|PMID:25741868 10041602 CV186876 NM_000053.4(ATP7B):c.3818C>T (p.Pro1273Leu) variant DOID:893 Wilson disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Wilson disease PMID:11874474|PMID:15024742|PMID:15967699|PMID:16283883|PMID:16696937|PMID:17154398|PMID:17272994|PMID:17587212|PMID:18034201|PMID:18483695|PMID:20485189|PMID:21610751|PMID:21645214|PMID:21682854|PMID:22240481|PMID:22484412|PMID:22692182|PMID:23235335|PMID:23518715|PMID:23551039|PMID:23885147|PMID:23982005|PMID:25741868|PMID:27022412|PMID:28492532|PMID:29085216|PMID:29637721|PMID:29930488|PMID:30230192|PMID:32618023|PMID:33640437|PMID:34773664|PMID:8931691 10041603 CV186954 NM_000303.3(PMM2):c.620T>C (p.Phe207Ser) variant DOID:0080552 congenital disorder of glycosylation Ia IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: PMM2-congenital disorder of glycosylation PMID:11058896|PMID:12705494|PMID:19396570|PMID:21541725|PMID:23430838|PMID:25741868|PMID:28373276|PMID:28492532|PMID:32635232|PMID:34420056 10041604 CV187085 NM_000500.7:c.*28698024_*28698031del8 variant DOID:9003733 Congenital Adrenal Hyperplasia due to 21 Hydroxylase Deficiency IAGP D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: 21-hydroxylase deficiency PMID:12788880|PMID:23359698|PMID:25121463|PMID:25227725|PMID:8081391 10041606 CV187047 NM_004646.4(NPHS1):c.3312-1G>A variant DOID:0080390 nephrotic syndrome type 1 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: NEPHROTIC SYNDROME, CONGENITAL PMID:19406966|PMID:23949594 10041607 CV186875 NM_000053.4(ATP7B):c.3895C>T (p.Leu1299Phe) variant DOID:893 Wilson disease IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Wilson disease PMID:17264425|PMID:23551039|PMID:24094725|PMID:25741868|PMID:28492532 10041608 CV187032 NM_198129.4(LAMA3):c.8177+2T>G variant DOID:0060737 junctional epidermolysis bullosa Herlitz type IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of Herlitz PMID:10366601|PMID:11810295|PMID:12915477|PMID:16199547|PMID:16473856|PMID:17362460|PMID:22434185|PMID:23869449|PMID:27827380|PMID:28087116|PMID:28492532 10041609 CV186694 NM_000128.4(F11):c.1613C>T (p.Pro538Leu) variant DOID:2229 factor XI deficiency IAGP D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: Hereditary factor XI deficiency disease PMID:15953011|PMID:17229051|PMID:19652879|PMID:25741868|PMID:31064749 10041610 CV186790 NM_005476.7(GNE):c.386G>A (p.Arg129Gln) variant DOID:0080718 GNE myopathy IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: GNE myopathy PMID:15136692|PMID:16372135|PMID:19917666|PMID:22507750|PMID:23127962|PMID:24695763|PMID:25741868|PMID:28492532|PMID:35202935|PMID:35438352|PMID:35933247 10041611 CV186870 NM_014363.6(SACS):c.3328dup (p.Ile1110fs) variant DOID:0050946 Charlevoix-Saguenay spastic ataxia IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia PMID:12873855|PMID:25741868|PMID:28492532 10041611 CV186870 NM_014363.6(SACS):c.3328dup (p.Ile1110fs) variant DOID:607 paraplegia IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:12873855|PMID:25741868|PMID:28492532 10041612 CV186984 NM_000018.4(ACADVL):c.433C>T (p.Gln145Ter) variant DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:10384387|PMID:11590124|PMID:25741868|PMID:28492532|PMID:9973285 10041613 CV186662 NM_000030.3(AGXT):c.976del (p.Val326fs) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:10453743|PMID:11562405|PMID:12768081|PMID:19479957|PMID:22844106|PMID:24385516|PMID:24988064|PMID:25741868|PMID:26383609|PMID:27915025|PMID:28492532 10041613 CV186662 NM_000030.3(AGXT):c.976del (p.Val326fs) variant DOID:2977 primary hyperoxaluria IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria PMID:10453743|PMID:11562405|PMID:12768081|PMID:19479957|PMID:22844106|PMID:24385516|PMID:24988064|PMID:25741868|PMID:26383609|PMID:27915025|PMID:28492532 10041614 CV186956 NM_000382.3(ALDH3A2):c.471+1del variant DOID:14501 Sjogren-Larsson syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sjögren-Larsson syndrome PMID:10577908|PMID:10854114|PMID:15931689|PMID:21872273|PMID:25741868|PMID:28492532 10041616 CV186935 NM_000520.6(HEXA):c.1123del (p.Glu375fs) variant DOID:3320 Tay-Sachs disease IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:16088929|PMID:16698036|PMID:1833974|PMID:23820084|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31076878|PMID:8490625 10041617 CV187068 NM_015166.4(MLC1):c.324del (p.Asn110fs) variant DOID:0080316 megalencephalic leukoencephalopathy with subcortical cysts 1 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 1 PMID:11254442|PMID:16470554|PMID:24824219|PMID:25741868|PMID:28492532 10041618 CV186670 NM_000187.4(HGD):c.674G>A (p.Arg225His) variant DOID:9270 alkaptonuria IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:11001939|PMID:12872836|PMID:25741868|PMID:28492532|PMID:9529363 10041619 CV187022 NM_000271.5(NPC1):c.3557G>A (p.Arg1186His) variant DOID:0070113 Niemann-Pick disease type C1 IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C1 PMID:19900398|PMID:20718790|PMID:22326530|PMID:24386122|PMID:25236789|PMID:25741868|PMID:26666848|PMID:26981555|PMID:28105569|PMID:28472934|PMID:28492532|PMID:30923329|PMID:31743419|PMID:32248828|PMID:34489640|PMID:9211849 10041620 CV186869 NM_014363.6(SACS):c.7276C>T (p.Arg2426Ter) variant DOID:0050946 Charlevoix-Saguenay spastic ataxia IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia PMID:19892370|PMID:20876471|PMID:21745802|PMID:23280630|PMID:25326637|PMID:25741868|PMID:28492532|PMID:31429931 10041620 CV186869 NM_014363.6(SACS):c.7276C>T (p.Arg2426Ter) variant DOID:607 paraplegia IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:19892370|PMID:20876471|PMID:21745802|PMID:23280630|PMID:25326637|PMID:25741868|PMID:28492532|PMID:31429931 10041621 CV186834 NM_000391.4(TPP1):c.1379G>A (p.Trp460Ter) variant DOID:0110726 neuronal ceroid lipofuscinosis 2 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 2 PMID:10330339|PMID:11339651|PMID:12125808|PMID:21990111|PMID:25741868|PMID:28492532 10041622 CV186939 NM_000520.6(HEXA):c.570+1G>A variant DOID:3320 Tay-Sachs disease IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:10083731|PMID:16199547|PMID:1833974|PMID:26467025|PMID:28492532|PMID:7749419|PMID:8490625 10041623 CV187030 NM_000271.5(NPC1):c.1947+2T>G variant DOID:0070113 Niemann-Pick disease type C1 IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease type C1 PMID:12955717 10041625 CV186763 NM_000370.3(TTPA):c.2T>C (p.Met1Thr) variant DOID:0090028 familial isolated deficiency of vitamin E IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Friedreich-like ataxia with selective vitamin E deficiency PMID:10360777|PMID:16819822|PMID:17049453|PMID:23599266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31970222|PMID:3837850|PMID:9463307 10041627 CV187074 NM_000390.4(CHM):c.116+1G>A variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10447648|PMID:12203991|PMID:12827496|PMID:16199547|PMID:16936131|PMID:23811034|PMID:25525159|PMID:25741868|PMID:27247961|PMID:27596865|PMID:28492532|PMID:31922496|PMID:9067750 10041627 CV187074 NM_000390.4(CHM):c.116+1G>A variant DOID:9821 Choroideremia IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Choroideremia PMID:10447648|PMID:12203991|PMID:12827496|PMID:16199547|PMID:16936131|PMID:23811034|PMID:25525159|PMID:25741868|PMID:27247961|PMID:27596865|PMID:28492532|PMID:31922496|PMID:9067750 10041628 CV186765 NM_019098.5(CNGB3):c.1119G>A (p.Trp373Ter) variant DOID:0110008 achromatopsia 3 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Achromatopsia 3 PMID:15657609|PMID:25741868|PMID:28492532|PMID:28795510 10041628 CV186765 NM_019098.5(CNGB3):c.1119G>A (p.Trp373Ter) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:15657609|PMID:25741868|PMID:28492532|PMID:28795510 10041629 CV186901 NM_000053.4(ATP7B):c.2035del (p.His679fs) variant DOID:893 Wilson disease IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Wilson's disease PMID:14962673|PMID:17949296 10041630 CV186911 NM_000053.4(ATP7B):c.314C>A (p.Ser105Ter) variant DOID:893 Wilson disease IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Wilson disease PMID:10441329|PMID:10980554|PMID:16283883|PMID:16510432|PMID:18034201|PMID:18760268|PMID:21796144|PMID:23843956|PMID:25089800|PMID:25741868|PMID:28492532|PMID:29321352|PMID:29914392|PMID:34002136 10041631 CV187086 NM_001355436.2(SPTB):c.1795+1G>A variant DOID:0110917 hereditary spherocytosis type 2 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary spherocytosis type 2 PMID:25741868 10041632 CV185732 NM_001127222.2(CACNA1A):c.2865del (p.Arg956fs) variant DOID:0050990 episodic ataxia type 2 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:25735478 10041633 CV185733 NM_001127222.2(CACNA1A):c.631+5G>A variant DOID:0050990 episodic ataxia type 2 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:17576681|PMID:25735478|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33349592|PMID:9536098 10041633 CV185733 NM_001127222.2(CACNA1A):c.631+5G>A variant DOID:0080454 developmental and epileptic encephalopathy 42 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 42 PMID:17576681|PMID:25735478|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33349592|PMID:9536098 10041634 CV185756 NM_014362.4(HIBCH):c.950G>A (p.Gly317Glu) variant DOID:0060949 3-hydroxyisobutryl-CoA hydrolase deficiency IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Beta-hydroxyisobutyryl-CoA deacylase deficiency PMID:24299452|PMID:25741868 10041635 CV185944 NM_004608.4(TBX6):c.844C>T (p.Arg282Ter) variant DOID:0112363 spondylocostal dysostosis 5 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734 10041636 CV185948 NM_004608.4(TBX6):c.434C>T (p.Pro145Leu) variant DOID:0060249 scoliosis IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Scoliosis PMID:25564734|PMID:25741868|PMID:28054739|PMID:28492532|PMID:31015262|PMID:31471994 10041636 CV185948 NM_004608.4(TBX6):c.434C>T (p.Pro145Leu) variant DOID:0112363 spondylocostal dysostosis 5 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:25564734|PMID:25741868|PMID:28054739|PMID:28492532|PMID:31015262|PMID:31471994 10041638 CV186747 NM_000492.4(CFTR):c.3368-2A>G variant DOID:0080526 bronchiectasis 1 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1 PMID:12938099|PMID:16049310|PMID:16199547|PMID:1695717|PMID:16963320|PMID:16980811|PMID:19540513|PMID:23974870|PMID:24784896|PMID:25741868|PMID:26574590|PMID:26708955|PMID:28492532|PMID:7691345|PMID:9725922 10041638 CV186747 NM_000492.4(CFTR):c.3368-2A>G variant DOID:0111864 autosomal recessive congenital bilateral absence of vas deferens IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital bilateral aplasia of vas deferens from CFTR mutation PMID:12938099|PMID:16049310|PMID:16199547|PMID:1695717|PMID:16963320|PMID:16980811|PMID:19540513|PMID:23974870|PMID:24784896|PMID:25741868|PMID:26574590|PMID:26708955|PMID:28492532|PMID:7691345|PMID:9725922 10041638 CV186747 NM_000492.4(CFTR):c.3368-2A>G variant DOID:1485 cystic fibrosis IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cystic fibrosis PMID:12938099|PMID:16049310|PMID:16199547|PMID:1695717|PMID:16963320|PMID:16980811|PMID:19540513|PMID:23974870|PMID:24784896|PMID:25741868|PMID:26574590|PMID:26708955|PMID:28492532|PMID:7691345|PMID:9725922 10041638 CV186747 NM_000492.4(CFTR):c.3368-2A>G variant DOID:9563 bronchiectasis IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Cystic Fibrosis-Like Syndrome PMID:12938099|PMID:16049310|PMID:16199547|PMID:1695717|PMID:16963320|PMID:16980811|PMID:19540513|PMID:23974870|PMID:24784896|PMID:25741868|PMID:26574590|PMID:26708955|PMID:28492532|PMID:7691345|PMID:9725922 10041639 CV186746 NM_000492.4(CFTR):c.1519A>G (p.Ile507Val) variant DOID:1485 cystic fibrosis IAGP D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Cystic fibrosis PMID:1284478|PMID:16714368|PMID:21474639|PMID:22427236|PMID:28492532 10041640 CV186851 NM_024685.4(BBS10):c.1184dup (p.His395fs) variant DOID:0110132 Bardet-Biedl syndrome 10 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 10 PMID:16582908|PMID:20472660|PMID:21209035|PMID:22773737|PMID:25982971|PMID:27486776|PMID:28492532 10041640 CV186851 NM_024685.4(BBS10):c.1184dup (p.His395fs) variant DOID:1935 Bardet-Biedl syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:16582908|PMID:20472660|PMID:21209035|PMID:22773737|PMID:25982971|PMID:27486776|PMID:28492532 10041641 CV186850 NM_024685.4(BBS10):c.1241T>C (p.Leu414Ser) variant DOID:0110132 Bardet-Biedl syndrome 10 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 10 PMID:16582908|PMID:20177705|PMID:20472660|PMID:20498079|PMID:20876674|PMID:21157496|PMID:21344540|PMID:21517826|PMID:22773737|PMID:22958920|PMID:25741868|PMID:28492532|PMID:29261186 10041641 CV186850 NM_024685.4(BBS10):c.1241T>C (p.Leu414Ser) variant DOID:1935 Bardet-Biedl syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:16582908|PMID:20177705|PMID:20472660|PMID:20498079|PMID:20876674|PMID:21157496|PMID:21344540|PMID:21517826|PMID:22773737|PMID:22958920|PMID:25741868|PMID:28492532|PMID:29261186 10041642 CV186745 NM_000492.4(CFTR):c.1327_1330dup (p.Ile444fs) variant DOID:0080526 bronchiectasis 1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1 PMID:12815607|PMID:1695717|PMID:23974870|PMID:25741868|PMID:25900089|PMID:26467025|PMID:28492532|PMID:30244528|PMID:7537150|PMID:7691345|PMID:9725922 10041642 CV186745 NM_000492.4(CFTR):c.1327_1330dup (p.Ile444fs) variant DOID:0111864 autosomal recessive congenital bilateral absence of vas deferens IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital bilateral aplasia of vas deferens from CFTR mutation PMID:12815607|PMID:1695717|PMID:23974870|PMID:25741868|PMID:25900089|PMID:26467025|PMID:28492532|PMID:30244528|PMID:7537150|PMID:7691345|PMID:9725922 10041642 CV186745 NM_000492.4(CFTR):c.1327_1330dup (p.Ile444fs) variant DOID:1485 cystic fibrosis IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cystic fibrosis PMID:12815607|PMID:1695717|PMID:23974870|PMID:25741868|PMID:25900089|PMID:26467025|PMID:28492532|PMID:30244528|PMID:7537150|PMID:7691345|PMID:9725922 10041642 CV186745 NM_000492.4(CFTR):c.1327_1330dup (p.Ile444fs) variant DOID:9008999 Hereditary Pancreatitis IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary chronic pancreatitis PMID:12815607|PMID:1695717|PMID:23974870|PMID:25741868|PMID:25900089|PMID:26467025|PMID:28492532|PMID:30244528|PMID:7537150|PMID:7691345|PMID:9725922 10041642 CV186745 NM_000492.4(CFTR):c.1327_1330dup (p.Ile444fs) variant DOID:9563 bronchiectasis IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cystic Fibrosis-Like Syndrome PMID:12815607|PMID:1695717|PMID:23974870|PMID:25741868|PMID:25900089|PMID:26467025|PMID:28492532|PMID:30244528|PMID:7537150|PMID:7691345|PMID:9725922 10041643 CV186848 NM_024685.4(BBS10):c.1599_1602del (p.Thr534fs) variant DOID:0110132 Bardet-Biedl syndrome 10 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 10 PMID:20177705|PMID:20472660|PMID:21642631|PMID:24611592|PMID:25741868|PMID:27788217|PMID:28492532|PMID:28808579 10041643 CV186848 NM_024685.4(BBS10):c.1599_1602del (p.Thr534fs) variant DOID:1935 Bardet-Biedl syndrome IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:20177705|PMID:20472660|PMID:21642631|PMID:24611592|PMID:25741868|PMID:27788217|PMID:28492532|PMID:28808579 10041644 CV186743 NC_000007.14:g.117479634A>G variant DOID:1485 cystic fibrosis IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Cystic fibrosis PMID:11788090|PMID:23470247|PMID:23810505|PMID:25900089|PMID:26467025|PMID:28492532 10041644 CV186743 NC_000007.14:g.117479634A>G variant DOID:9008999 Hereditary Pancreatitis IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Hereditary pancreatitis PMID:11788090|PMID:23470247|PMID:23810505|PMID:25900089|PMID:26467025|PMID:28492532 10041645 CV186852 NM_024685.4(BBS10):c.728_731del (p.Lys243fs) variant DOID:0110132 Bardet-Biedl syndrome 10 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 10 PMID:16582908|PMID:17106446|PMID:20472660|PMID:22353939|PMID:22773737|PMID:24041679|PMID:25741868|PMID:25982971|PMID:27245532|PMID:27486776|PMID:28492532|PMID:30614526 10041645 CV186852 NM_024685.4(BBS10):c.728_731del (p.Lys243fs) variant DOID:1935 Bardet-Biedl syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:16582908|PMID:17106446|PMID:20472660|PMID:22353939|PMID:22773737|PMID:24041679|PMID:25741868|PMID:25982971|PMID:27245532|PMID:27486776|PMID:28492532|PMID:30614526 10041646 CV186744 NM_000492.4(CFTR):c.850dup (p.Met284fs) variant DOID:0080526 bronchiectasis 1 IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1 PMID:16488363|PMID:1695717|PMID:23974870|PMID:25741868|PMID:26436105|PMID:28492532|PMID:7521710|PMID:7684644|PMID:7691345|PMID:8680406|PMID:9067754|PMID:9259197|PMID:9725922 10041646 CV186744 NM_000492.4(CFTR):c.850dup (p.Met284fs) variant DOID:1485 cystic fibrosis IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Cystic fibrosis PMID:16488363|PMID:1695717|PMID:23974870|PMID:25741868|PMID:26436105|PMID:28492532|PMID:7521710|PMID:7684644|PMID:7691345|PMID:8680406|PMID:9067754|PMID:9259197|PMID:9725922 10041646 CV186744 NM_000492.4(CFTR):c.850dup (p.Met284fs) variant DOID:9563 bronchiectasis IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Cystic Fibrosis-Like Syndrome PMID:16488363|PMID:1695717|PMID:23974870|PMID:25741868|PMID:26436105|PMID:28492532|PMID:7521710|PMID:7684644|PMID:7691345|PMID:8680406|PMID:9067754|PMID:9259197|PMID:9725922 10041647 CV186849 NM_024685.4(BBS10):c.1448_1452del (p.Thr483fs) variant DOID:0110132 Bardet-Biedl syndrome 10 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 10 PMID:16582908|PMID:20472660|PMID:22773737|PMID:25741868|PMID:25982971|PMID:27486776|PMID:28492532 10041647 CV186849 NM_024685.4(BBS10):c.1448_1452del (p.Thr483fs) variant DOID:1935 Bardet-Biedl syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:16582908|PMID:20472660|PMID:22773737|PMID:25741868|PMID:25982971|PMID:27486776|PMID:28492532 10041648 CV187087 NM_000718.4(CACNA1B):c.4166G>A (p.Arg1389His) variant DOID:0090051 dystonia 23 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dystonia 23 PMID:21370267|PMID:25296916|PMID:26157024|PMID:28492532 10041649 CV187089 NM_001199753.2(CPT1C):c.109C>T (p.Arg37Cys) variant DOID:0110818 hereditary spastic paraplegia 73 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 73, autosomal dominant PMID:25751282 10041650 CV187090 NM_016035.5(COQ4):c.433C>G (p.Arg145Gly) variant DOID:0070244 primary coenzyme Q10 deficiency 7 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 PMID:25658047 10041651 CV187091 NM_016035.5(COQ4):c.421C>T (p.Arg141Ter) variant DOID:0070244 primary coenzyme Q10 deficiency 7 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:25658047|PMID:28492532 10041652 CV187092 NM_016035.5(COQ4):c.718C>T (p.Arg240Cys) variant DOID:0050952 spastic ataxia IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:25658047|PMID:25741868|PMID:26185144|PMID:28492532|PMID:31967322|PMID:32718099|PMID:33704555|PMID:34440436|PMID:34445196 10041652 CV187092 NM_016035.5(COQ4):c.718C>T (p.Arg240Cys) variant DOID:0070244 primary coenzyme Q10 deficiency 7 IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:25658047|PMID:25741868|PMID:26185144|PMID:28492532|PMID:31967322|PMID:32718099|PMID:33704555|PMID:34440436|PMID:34445196 10041652 CV187092 NM_016035.5(COQ4):c.718C>T (p.Arg240Cys) variant DOID:630 genetic disease IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25658047|PMID:25741868|PMID:26185144|PMID:28492532|PMID:31967322|PMID:32718099|PMID:33704555|PMID:34440436|PMID:34445196 10041652 CV187092 NM_016035.5(COQ4):c.718C>T (p.Arg240Cys) variant DOID:9006071 Spastic Ataxia 10, Autosomal Recessive IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Spastic ataxia 10, autosomal recessive PMID:25658047|PMID:25741868|PMID:26185144|PMID:28492532|PMID:31967322|PMID:32718099|PMID:33704555|PMID:34440436|PMID:34445196 10041653 CV187093 NM_016035.5(COQ4):c.155T>C (p.Leu52Ser) variant DOID:0070244 primary coenzyme Q10 deficiency 7 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 7 PMID:25658047 10041654 CV165949 NM_001349338.3(FOXP1):c.1267_1268del (p.Val423fs) variant DOID:0111331 intellectual disability-severe speech delay-mild dysmorphism syndrome IAGP D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Mental retardation with language impairment and with or without autistic features 10041656 CV185749 NM_004990.4(MARS1):c.2398C>A (p.Pro800Thr) variant DOID:0110173 Charcot-Marie-Tooth disease axonal type 2U IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2U PMID:24354524|PMID:31356216|PMID:36738734 10041657 CV186839 NM_001876.4(CPT1A):c.1364A>C (p.Lys455Thr) variant DOID:0090129 carnitine palmitoyltransferase I deficiency IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Carnitine palmitoyl transferase 1A deficiency PMID:21962599|PMID:25741868|PMID:28492532 10041658 CV187095 NM_016035.5(COQ4):c.190C>T (p.Pro64Ser) variant DOID:0070244 primary coenzyme Q10 deficiency 7 IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:25658047|PMID:25741868|PMID:28492532 10041659 CV187135 NM_004577.4(PSPH):c.103G>A (p.Ala35Thr) variant DOID:0050724 PSPH deficiency IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Phosphoserine phosphatase deficiency PMID:25080166 10041660 CV187137 NM_002240.5(KCNJ6):c.460G>A (p.Gly154Ser) variant DOID:9007674 Keppen-Lubinsky Syndrome IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Keppen-Lubinsky syndrome PMID:19610118|PMID:25620207|PMID:25741868 10041661 CV187138 NM_032790.4(ORAI1):c.292G>A (p.Gly98Ser) variant DOID:0080686 tubular aggregate myopathy 2 IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Myopathy, tubular aggregate, 2 PMID:25227914|PMID:25741868|PMID:28058752 10041661 CV187138 NM_032790.4(ORAI1):c.292G>A (p.Gly98Ser) variant DOID:9002092 Tubular Aggregate Myopathies IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Myopathy with tubular aggregates PMID:25227914|PMID:25741868|PMID:28058752 10041662 CV187149 NM_014795.3(ZEB2):c.404-?_(*5076_?)del variant DOID:0060485 Mowat-Wilson syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Mowat-Wilson syndrome 10041663 CV187173 NM_014795.3(ZEB2):c.(?_-522)_(*5076_?)del variant DOID:0060485 Mowat-Wilson syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Mowat-Wilson syndrome 10041664 CV185715 NM_016069.11(PAM16):c.226A>G (p.Asn76Asp) variant DOID:0112304 spondylometaphyseal dysplasia Megarbane-Dagher-Melike type IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Chondrodysplasia, megarbane-dagher-melki type PMID:24786642 10041669 CV185720 NM_014795.4(ZEB2):c.2004G>T (p.Glu668Asp) variant DOID:0060485 Mowat-Wilson syndrome IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Mowat-Wilson syndrome PMID:25741868|PMID:28492532 10041671 CV185722 NM_139058.3(ARX):c.260G>C (p.Arg87Pro) variant DOID:0080468 developmental and epileptic encephalopathy 1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:25741868 10041679 CV185737 NM_002858.4(ABCD3):c.1903-573_*1108del variant DOID:0111066 congenital bile acid synthesis defect 5 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Bile acid synthesis defect, congenital, 5 PMID:25168382 10041680 CV185741 NM_001029.5(RPS26):c.4-2A>T variant DOID:0111888 Diamond-Blackfan anemia 10 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 10 PMID:17483715|PMID:24942156 10041680 CV185741 NM_001029.5(RPS26):c.4-2A>T variant DOID:0111894 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis PMID:17483715|PMID:24942156 10041681 CV185742 NM_001267052.2(UNC45B):c.2407C>T (p.Arg803Trp) variant DOID:0110259 cataract 43 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Cataract 43 PMID:24549050 10041682 CV185748 NM_133443.4(GPT2):c.459C>G (p.Ser153Arg) variant DOID:0070542 neurodevelopmental disorder with spastic paraplegia and microcephaly IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly and spastic paraplegia PMID:24901346|PMID:25758935|PMID:27601654 10041682 CV185748 NM_133443.4(GPT2):c.459C>G (p.Ser153Arg) variant DOID:630 genetic disease IAGP D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24901346|PMID:25758935|PMID:27601654 10041683 CV185752 NM_004092.4(ECHS1):c.414+3G>C variant DOID:0070540 mitochondrial short-chain enoyl-CoA hydratase 1 deficiency IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Mitochondrial short-chain enoyl-coa hydratase 1 deficiency PMID:25125611 10041684 CV185946 NM_004608.4(TBX6):c.1250dup (p.Leu419fs) variant DOID:0112363 spondylocostal dysostosis 5 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734 10041685 CV185947 NM_004608.4(TBX6):c.266dup (p.Val91fs) variant DOID:0112363 spondylocostal dysostosis 5 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 5 PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734 10041686 CV186198 NM_025137.3(SPG11):c.(?_-1)_3520+?del variant DOID:0110764 hereditary spastic paraplegia 11 IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 11, autosomal recessive PMID:28492532 10041688 CV186551 NM_007294.4(BRCA1):c.212+23T>A variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20181009 ClinVar ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome PMID:25741868 10041688 CV186551 NM_007294.4(BRCA1):c.212+23T>A variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20181009 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868 10041689 CV186547 NM_007294.4(BRCA1):c.1598A>G (p.Asn533Ser) variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:28492532|PMID:31911673 10041689 CV186547 NM_007294.4(BRCA1):c.1598A>G (p.Asn533Ser) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:28492532|PMID:31911673 10041690 CV186545 NM_007294.4(BRCA1):c.3093T>A (p.Ile1031=) variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome PMID:16267036|PMID:25741868|PMID:26467025|PMID:28492532 10041690 CV186545 NM_007294.4(BRCA1):c.3093T>A (p.Ile1031=) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:16267036|PMID:25741868|PMID:26467025|PMID:28492532 10041691 CV186544 NM_007294.4(BRCA1):c.4185+14G>C variant DOID:1612 breast cancer IAGP D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:25741868|PMID:28492532 10041691 CV186544 NM_007294.4(BRCA1):c.4185+14G>C variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome PMID:25741868|PMID:28492532 10041691 CV186544 NM_007294.4(BRCA1):c.4185+14G>C variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532 10041692 CV186540 NM_007294.4(BRCA1):c.4955T>A (p.Met1652Lys) variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 PMID:25741868|PMID:28492532|PMID:28781887|PMID:30209399|PMID:30765603 10041693 CV186539 NM_007294.4(BRCA1):c.5042C>T (p.Thr1681Ile) variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome PMID:25741868|PMID:28492532|PMID:30209399 10041693 CV186539 NM_007294.4(BRCA1):c.5042C>T (p.Thr1681Ile) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532|PMID:30209399 10041694 CV186538 NM_007294.4(BRCA1):c.5126G>A (p.Gly1709Glu) variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 PMID:30209399 10041695 CV186537 NM_007294.4(BRCA1):c.5193+22C>T variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 PMID:30209399 10041696 CV186536 NM_007294.4(BRCA1):c.5260G>A (p.Glu1754Lys) variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome PMID:28492532|PMID:30209399 10041697 CV186437 NM_000059.4(BRCA2):c.316+108A>G variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 PMID:25741868 10041697 CV186437 NM_000059.4(BRCA2):c.316+108A>G variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868 10041699 CV186439 NM_000059.4(BRCA2):c.476-19C>T variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:28492532 10041700 CV186440 NM_000059.4(BRCA2):c.516+21A>T variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome PMID:25741868 10041700 CV186440 NM_000059.4(BRCA2):c.516+21A>T variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868 10041701 CV186442 NM_000059.4(BRCA2):c.811G>A (p.Gly271Arg) variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:26467025|PMID:28492532|PMID:31451522|PMID:31911673|PMID:32039725|PMID:33471991|PMID:35264596|PMID:36881271 10041701 CV186442 NM_000059.4(BRCA2):c.811G>A (p.Gly271Arg) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:26467025|PMID:28492532|PMID:31451522|PMID:31911673|PMID:32039725|PMID:33471991|PMID:35264596|PMID:36881271 10041701 CV186442 NM_000059.4(BRCA2):c.811G>A (p.Gly271Arg) variant DOID:9009054 Colorectal Cancer 10 IAGP D RGD:8554872 20250527 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer type X PMID:25741868|PMID:26467025|PMID:28492532|PMID:31451522|PMID:31911673|PMID:32039725|PMID:33471991|PMID:35264596|PMID:36881271 10041702 CV186443 NM_000059.4(BRCA2):c.1594G>A (p.Glu532Lys) variant DOID:1612 breast cancer IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:25741868|PMID:26467025|PMID:28492532|PMID:31911673 10041702 CV186443 NM_000059.4(BRCA2):c.1594G>A (p.Glu532Lys) variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:26467025|PMID:28492532|PMID:31911673 10041702 CV186443 NM_000059.4(BRCA2):c.1594G>A (p.Glu532Lys) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:26467025|PMID:28492532|PMID:31911673 10041703 CV186444 NM_000059.4(BRCA2):c.4898T>C (p.Ile1633Thr) variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:28492532|PMID:31911673 10041703 CV186444 NM_000059.4(BRCA2):c.4898T>C (p.Ile1633Thr) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532|PMID:31911673 10041704 CV186445 NM_000059.4(BRCA2):c.5173G>A (p.Ala1725Thr) variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:28492532|PMID:31911673 10041704 CV186445 NM_000059.4(BRCA2):c.5173G>A (p.Ala1725Thr) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:28492532|PMID:31911673 10041705 CV186446 NM_000059.4(BRCA2):c.5394T>C (p.Asn1798=) variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:28492532 10041705 CV186446 NM_000059.4(BRCA2):c.5394T>C (p.Asn1798=) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:28492532 10041706 CV186447 NM_000059.4(BRCA2):c.5465A>G (p.Asn1822Ser) variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:26467025|PMID:28492532|PMID:31911673 10041706 CV186447 NM_000059.4(BRCA2):c.5465A>G (p.Asn1822Ser) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:26467025|PMID:28492532|PMID:31911673 10041707 CV186448 NM_000059.4(BRCA2):c.5926G>A (p.Gly1976Arg) variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:28492532|PMID:31911673 10041707 CV186448 NM_000059.4(BRCA2):c.5926G>A (p.Gly1976Arg) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:28492532|PMID:31911673 10041708 CV186449 NM_000059.4(BRCA2):c.6017G>C (p.Ser2006Thr) variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:21671020|PMID:25741868|PMID:26295337|PMID:26467025|PMID:28492532|PMID:31911673|PMID:35918668 10041708 CV186449 NM_000059.4(BRCA2):c.6017G>C (p.Ser2006Thr) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:21671020|PMID:25741868|PMID:26295337|PMID:26467025|PMID:28492532|PMID:31911673|PMID:35918668 10041708 CV186449 NM_000059.4(BRCA2):c.6017G>C (p.Ser2006Thr) variant DOID:9008952 Breast Cancer, Familial IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Breast cancer, familial PMID:21671020|PMID:25741868|PMID:26295337|PMID:26467025|PMID:28492532|PMID:31911673|PMID:35918668 10041709 CV186454 NM_000059.4(BRCA2):c.7563C>A (p.Ile2521=) variant DOID:0081277 diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype PMID:25741868|PMID:26467025|PMID:28492532 10041709 CV186454 NM_000059.4(BRCA2):c.7563C>A (p.Ile2521=) variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:26467025|PMID:28492532 10041709 CV186454 NM_000059.4(BRCA2):c.7563C>A (p.Ile2521=) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:26467025|PMID:28492532 10041709 CV186454 NM_000059.4(BRCA2):c.7563C>A (p.Ile2521=) variant DOID:9008952 Breast Cancer, Familial IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868|PMID:26467025|PMID:28492532 10041710 CV186455 NM_000059.4(BRCA2):c.8007A>G (p.Arg2669=) variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25556971|PMID:25741868|PMID:26467025|PMID:28339459|PMID:28492532|PMID:31191615 10041710 CV186455 NM_000059.4(BRCA2):c.8007A>G (p.Arg2669=) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25556971|PMID:25741868|PMID:26467025|PMID:28339459|PMID:28492532|PMID:31191615 10041711 CV186457 NM_000059.4(BRCA2):c.9472A>G (p.Thr3158Ala) variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:26467025|PMID:28492532|PMID:31159747|PMID:31853058|PMID:31921681 10041711 CV186457 NM_000059.4(BRCA2):c.9472A>G (p.Thr3158Ala) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:26467025|PMID:28492532|PMID:31159747|PMID:31853058|PMID:31921681 10041712 CV186458 NM_000059.4(BRCA2):c.10051G>C (p.Ala3351Pro) variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome PMID:25741868 10041713 CV186564 NM_001943.5(DSG2):c.-41_-21del variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868 10041717 CV186571 NM_001943.5(DSG2):c.523+24del variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10041717 CV186571 NM_001943.5(DSG2):c.523+24del variant DOID:0110081 arrhythmogenic right ventricular dysplasia 10 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 10 PMID:25741868|PMID:28492532 10041718 CV186569 NM_001943.5(DSG2):c.523+20T>C variant DOID:0110081 arrhythmogenic right ventricular dysplasia 10 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 10 PMID:25741868|PMID:28492532 10041719 CV186572 NM_001943.5(DSG2):c.593A>G (p.Tyr198Cys) variant DOID:0050431 arrhythmogenic right ventricular cardiomyopathy IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:24125834|PMID:25741868|PMID:27055156|PMID:28288337|PMID:28492532|PMID:29456632|PMID:29750433|PMID:30830208|PMID:30847666|PMID:32659924|PMID:33460606|PMID:33996946|PMID:37418234 10041719 CV186572 NM_001943.5(DSG2):c.593A>G (p.Tyr198Cys) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:24125834|PMID:25741868|PMID:27055156|PMID:28288337|PMID:28492532|PMID:29456632|PMID:29750433|PMID:30830208|PMID:30847666|PMID:32659924|PMID:33460606|PMID:33996946|PMID:37418234 10041719 CV186572 NM_001943.5(DSG2):c.593A>G (p.Tyr198Cys) variant DOID:0110081 arrhythmogenic right ventricular dysplasia 10 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 10 PMID:24125834|PMID:25741868|PMID:27055156|PMID:28288337|PMID:28492532|PMID:29456632|PMID:29750433|PMID:30830208|PMID:30847666|PMID:32659924|PMID:33460606|PMID:33996946|PMID:37418234 10041719 CV186572 NM_001943.5(DSG2):c.593A>G (p.Tyr198Cys) variant DOID:0110458 dilated cardiomyopathy 1BB IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1BB PMID:24125834|PMID:25741868|PMID:27055156|PMID:28288337|PMID:28492532|PMID:29456632|PMID:29750433|PMID:30830208|PMID:30847666|PMID:32659924|PMID:33460606|PMID:33996946|PMID:37418234 10041719 CV186572 NM_001943.5(DSG2):c.593A>G (p.Tyr198Cys) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:24125834|PMID:25741868|PMID:27055156|PMID:28288337|PMID:28492532|PMID:29456632|PMID:29750433|PMID:30830208|PMID:30847666|PMID:32659924|PMID:33460606|PMID:33996946|PMID:37418234 10041720 CV186573 NM_001943.5(DSG2):c.828_828+2del variant DOID:0050431 arrhythmogenic right ventricular cardiomyopathy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 10041720 CV186573 NM_001943.5(DSG2):c.828_828+2del variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 10041720 CV186573 NM_001943.5(DSG2):c.828_828+2del variant DOID:0110081 arrhythmogenic right ventricular dysplasia 10 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 10 PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 10041721 CV186574 NM_001943.5(DSG2):c.1643G>A (p.Arg548His) variant DOID:0050431 arrhythmogenic right ventricular cardiomyopathy IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, ARVC PMID:25741868|PMID:28492532 10041721 CV186574 NM_001943.5(DSG2):c.1643G>A (p.Arg548His) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10041721 CV186574 NM_001943.5(DSG2):c.1643G>A (p.Arg548His) variant DOID:0110081 arrhythmogenic right ventricular dysplasia 10 IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10 PMID:25741868|PMID:28492532 10041724 CV186323 NM_004415.4(DSP):c.897C>T (p.Ser299=) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:25741868|PMID:28492532 10041724 CV186323 NM_004415.4(DSP):c.897C>T (p.Ser299=) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Carvajal syndrome PMID:25741868|PMID:28492532 10041724 CV186323 NM_004415.4(DSP):c.897C>T (p.Ser299=) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 8 PMID:25741868|PMID:28492532 10041726 CV186326 NM_004415.4(DSP):c.1352G>A (p.Arg451His) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:27532257|PMID:28492532|PMID:31194698|PMID:33460606 10041726 CV186326 NM_004415.4(DSP):c.1352G>A (p.Arg451His) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma PMID:25741868|PMID:27532257|PMID:28492532|PMID:31194698|PMID:33460606 10041726 CV186326 NM_004415.4(DSP):c.1352G>A (p.Arg451His) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 8 PMID:25741868|PMID:27532257|PMID:28492532|PMID:31194698|PMID:33460606 10041727 CV186327 NM_004415.4(DSP):c.1419+27_1419+28del variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868 10041729 CV186329 NM_004415.4(DSP):c.2121C>T (p.Asn707=) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10041729 CV186329 NM_004415.4(DSP):c.2121C>T (p.Asn707=) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma PMID:25741868|PMID:28492532 10041729 CV186329 NM_004415.4(DSP):c.2121C>T (p.Asn707=) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 8 PMID:25741868|PMID:28492532 10041730 CV186330 NM_004415.4(DSP):c.2822G>A (p.Arg941Gln) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:25741868|PMID:26743238|PMID:28492532 10041730 CV186330 NM_004415.4(DSP):c.2822G>A (p.Arg941Gln) variant DOID:0070554 palmoplantar keratoderma and woolly hair IAGP D RGD:8554872 20230620 ClinVar ClinVar Annotator: match by term: Skin fragility woolly hair syndrome PMID:25741868|PMID:26743238|PMID:28492532 10041730 CV186330 NM_004415.4(DSP):c.2822G>A (p.Arg941Gln) variant DOID:0081109 keratosis palmoplantaris striata 2 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Keratosis palmoplantaris striata II PMID:25741868|PMID:26743238|PMID:28492532 10041730 CV186330 NM_004415.4(DSP):c.2822G>A (p.Arg941Gln) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Carvajal syndrome PMID:25741868|PMID:26743238|PMID:28492532 10041730 CV186330 NM_004415.4(DSP):c.2822G>A (p.Arg941Gln) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 8 PMID:25741868|PMID:26743238|PMID:28492532 10041730 CV186330 NM_004415.4(DSP):c.2822G>A (p.Arg941Gln) variant DOID:9002630 Epidermolysis Bullosa, Lethal Acantholytic IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lethal acantholytic epidermolysis bullosa PMID:25741868|PMID:26743238|PMID:28492532 10041730 CV186330 NM_004415.4(DSP):c.2822G>A (p.Arg941Gln) variant DOID:9004026 Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis PMID:25741868|PMID:26743238|PMID:28492532 10041731 CV186331 NM_004415.4(DSP):c.3134G>C (p.Arg1045Pro) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Carvajal syndrome PMID:28492532 10041731 CV186331 NM_004415.4(DSP):c.3134G>C (p.Arg1045Pro) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 8 PMID:28492532 10041732 CV186332 NM_004415.4(DSP):c.3562T>C (p.Tyr1188His) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:23861362|PMID:25741868|PMID:27532257|PMID:28492532|PMID:30847666|PMID:30975432|PMID:31983221|PMID:34389451|PMID:36868229|PMID:37589201 10041732 CV186332 NM_004415.4(DSP):c.3562T>C (p.Tyr1188His) variant DOID:0070554 palmoplantar keratoderma and woolly hair IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Woolly hair-skin fragility syndrome PMID:23861362|PMID:25741868|PMID:27532257|PMID:28492532|PMID:30847666|PMID:30975432|PMID:31983221|PMID:34389451|PMID:36868229|PMID:37589201 10041732 CV186332 NM_004415.4(DSP):c.3562T>C (p.Tyr1188His) variant DOID:0081109 keratosis palmoplantaris striata 2 IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Keratosis palmoplantaris striata II PMID:23861362|PMID:25741868|PMID:27532257|PMID:28492532|PMID:30847666|PMID:30975432|PMID:31983221|PMID:34389451|PMID:36868229|PMID:37589201 10041732 CV186332 NM_004415.4(DSP):c.3562T>C (p.Tyr1188His) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma PMID:23861362|PMID:25741868|PMID:27532257|PMID:28492532|PMID:30847666|PMID:30975432|PMID:31983221|PMID:34389451|PMID:36868229|PMID:37589201 10041732 CV186332 NM_004415.4(DSP):c.3562T>C (p.Tyr1188His) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 8 PMID:23861362|PMID:25741868|PMID:27532257|PMID:28492532|PMID:30847666|PMID:30975432|PMID:31983221|PMID:34389451|PMID:36868229|PMID:37589201 10041732 CV186332 NM_004415.4(DSP):c.3562T>C (p.Tyr1188His) variant DOID:9002630 Epidermolysis Bullosa, Lethal Acantholytic IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Lethal acantholytic epidermolysis bullosa PMID:23861362|PMID:25741868|PMID:27532257|PMID:28492532|PMID:30847666|PMID:30975432|PMID:31983221|PMID:34389451|PMID:36868229|PMID:37589201 10041732 CV186332 NM_004415.4(DSP):c.3562T>C (p.Tyr1188His) variant DOID:9004026 Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis PMID:23861362|PMID:25741868|PMID:27532257|PMID:28492532|PMID:30847666|PMID:30975432|PMID:31983221|PMID:34389451|PMID:36868229|PMID:37589201 10041733 CV186333 NM_004415.4(DSP):c.4775A>G (p.Lys1592Arg) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:21606396|PMID:24440382|PMID:25741868|PMID:27153395|PMID:27532257|PMID:28492532|PMID:30975432 10041733 CV186333 NM_004415.4(DSP):c.4775A>G (p.Lys1592Arg) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy PMID:21606396|PMID:24440382|PMID:25741868|PMID:27153395|PMID:27532257|PMID:28492532|PMID:30975432 10041733 CV186333 NM_004415.4(DSP):c.4775A>G (p.Lys1592Arg) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 8 PMID:21606396|PMID:24440382|PMID:25741868|PMID:27153395|PMID:27532257|PMID:28492532|PMID:30975432 10041734 CV186334 NM_004415.4(DSP):c.5063C>T (p.Ala1688Val) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10041734 CV186334 NM_004415.4(DSP):c.5063C>T (p.Ala1688Val) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma PMID:25741868|PMID:28492532 10041734 CV186334 NM_004415.4(DSP):c.5063C>T (p.Ala1688Val) variant DOID:0110070 arrhythmogenic right ventricular dysplasia 1 IAGP D RGD:8554872 20201015 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 PMID:25741868|PMID:28492532 10041734 CV186334 NM_004415.4(DSP):c.5063C>T (p.Ala1688Val) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 8 PMID:25741868|PMID:28492532 10041735 CV186335 NM_004415.4(DSP):c.5194G>A (p.Asp1732Asn) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532|PMID:31983221 10041735 CV186335 NM_004415.4(DSP):c.5194G>A (p.Asp1732Asn) variant DOID:0070554 palmoplantar keratoderma and woolly hair IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Woolly hair-skin fragility syndrome PMID:25741868|PMID:28492532|PMID:31983221 10041735 CV186335 NM_004415.4(DSP):c.5194G>A (p.Asp1732Asn) variant DOID:0081109 keratosis palmoplantaris striata 2 IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Keratosis palmoplantaris striata II PMID:25741868|PMID:28492532|PMID:31983221 10041735 CV186335 NM_004415.4(DSP):c.5194G>A (p.Asp1732Asn) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma PMID:25741868|PMID:28492532|PMID:31983221 10041735 CV186335 NM_004415.4(DSP):c.5194G>A (p.Asp1732Asn) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 8 PMID:25741868|PMID:28492532|PMID:31983221 10041735 CV186335 NM_004415.4(DSP):c.5194G>A (p.Asp1732Asn) variant DOID:9002630 Epidermolysis Bullosa, Lethal Acantholytic IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Lethal acantholytic epidermolysis bullosa PMID:25741868|PMID:28492532|PMID:31983221 10041735 CV186335 NM_004415.4(DSP):c.5194G>A (p.Asp1732Asn) variant DOID:9004026 Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis PMID:25741868|PMID:28492532|PMID:31983221 10041736 CV186336 NM_004415.4(DSP):c.5363A>G (p.Gln1788Arg) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23396983|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29062697|PMID:30847666 10041736 CV186336 NM_004415.4(DSP):c.5363A>G (p.Gln1788Arg) variant DOID:0081109 keratosis palmoplantaris striata 2 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Keratosis palmoplantaris striata II PMID:23396983|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29062697|PMID:30847666 10041736 CV186336 NM_004415.4(DSP):c.5363A>G (p.Gln1788Arg) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy PMID:23396983|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29062697|PMID:30847666 10041736 CV186336 NM_004415.4(DSP):c.5363A>G (p.Gln1788Arg) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 8 PMID:23396983|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29062697|PMID:30847666 10041736 CV186336 NM_004415.4(DSP):c.5363A>G (p.Gln1788Arg) variant DOID:9002630 Epidermolysis Bullosa, Lethal Acantholytic IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Lethal acantholytic epidermolysis bullosa PMID:23396983|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29062697|PMID:30847666 10041736 CV186336 NM_004415.4(DSP):c.5363A>G (p.Gln1788Arg) variant DOID:9004026 Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis PMID:23396983|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29062697|PMID:30847666 10041738 CV186339 NM_004415.4(DSP):c.6799A>T (p.Thr2267Ser) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:24125834|PMID:25741868|PMID:26585738|PMID:28492532|PMID:29802319|PMID:30731207|PMID:31118017 10041738 CV186339 NM_004415.4(DSP):c.6799A>T (p.Thr2267Ser) variant DOID:0070554 palmoplantar keratoderma and woolly hair IAGP D RGD:8554872 20230620 ClinVar ClinVar Annotator: match by term: Skin fragility woolly hair syndrome PMID:24033266|PMID:24125834|PMID:25741868|PMID:26585738|PMID:28492532|PMID:29802319|PMID:30731207|PMID:31118017 10041738 CV186339 NM_004415.4(DSP):c.6799A>T (p.Thr2267Ser) variant DOID:0081109 keratosis palmoplantaris striata 2 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Keratosis palmoplantaris striata II PMID:24033266|PMID:24125834|PMID:25741868|PMID:26585738|PMID:28492532|PMID:29802319|PMID:30731207|PMID:31118017 10041738 CV186339 NM_004415.4(DSP):c.6799A>T (p.Thr2267Ser) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Carvajal syndrome PMID:24033266|PMID:24125834|PMID:25741868|PMID:26585738|PMID:28492532|PMID:29802319|PMID:30731207|PMID:31118017 10041738 CV186339 NM_004415.4(DSP):c.6799A>T (p.Thr2267Ser) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 8 PMID:24033266|PMID:24125834|PMID:25741868|PMID:26585738|PMID:28492532|PMID:29802319|PMID:30731207|PMID:31118017 10041738 CV186339 NM_004415.4(DSP):c.6799A>T (p.Thr2267Ser) variant DOID:9002630 Epidermolysis Bullosa, Lethal Acantholytic IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Lethal acantholytic epidermolysis bullosa PMID:24033266|PMID:24125834|PMID:25741868|PMID:26585738|PMID:28492532|PMID:29802319|PMID:30731207|PMID:31118017 10041738 CV186339 NM_004415.4(DSP):c.6799A>T (p.Thr2267Ser) variant DOID:9004026 Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis PMID:24033266|PMID:24125834|PMID:25741868|PMID:26585738|PMID:28492532|PMID:29802319|PMID:30731207|PMID:31118017 10041739 CV186340 NM_004415.4(DSP):c.7125G>A (p.Gly2375=) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10041739 CV186340 NM_004415.4(DSP):c.7125G>A (p.Gly2375=) variant DOID:0070554 palmoplantar keratoderma and woolly hair IAGP D RGD:8554872 20230620 ClinVar ClinVar Annotator: match by term: Skin fragility woolly hair syndrome PMID:25741868|PMID:28492532 10041739 CV186340 NM_004415.4(DSP):c.7125G>A (p.Gly2375=) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Carvajal syndrome PMID:25741868|PMID:28492532 10041739 CV186340 NM_004415.4(DSP):c.7125G>A (p.Gly2375=) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8 PMID:25741868|PMID:28492532 10041739 CV186340 NM_004415.4(DSP):c.7125G>A (p.Gly2375=) variant DOID:9002630 Epidermolysis Bullosa, Lethal Acantholytic IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa, lethal acantholytic PMID:25741868|PMID:28492532 10041741 CV186552 NM_000152.5(GAA):c.11G>A (p.Arg4Lys) variant DOID:2752 glycogen storage disease II IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type II PMID:25741868|PMID:28492532 10041742 CV186553 NM_000152.5(GAA):c.676C>G (p.Leu226Val) variant DOID:2752 glycogen storage disease II IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type II PMID:25741868|PMID:28492532|PMID:29149851 10041742 CV186553 NM_000152.5(GAA):c.676C>G (p.Leu226Val) variant DOID:9000184 Ventricular Fibrillation IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation PMID:25741868|PMID:28492532|PMID:29149851 10041742 CV186553 NM_000152.5(GAA):c.676C>G (p.Leu226Val) variant DOID:9001828 Cardiac Form of Generalized Glycogenosis IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Cardiomegalia glycogenica diffusa PMID:25741868|PMID:28492532|PMID:29149851 10041743 CV186554 NM_000152.5(GAA):c.852G>A (p.Ala284=) variant DOID:2752 glycogen storage disease II IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type II PMID:17616415|PMID:18425781|PMID:22676651|PMID:25741868|PMID:28492532 10041743 CV186554 NM_000152.5(GAA):c.852G>A (p.Ala284=) variant DOID:9001828 Cardiac Form of Generalized Glycogenosis IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomegalia glycogenica diffusa PMID:17616415|PMID:18425781|PMID:22676651|PMID:25741868|PMID:28492532 10041744 CV186555 NM_000152.5(GAA):c.915G>A (p.Gly305=) variant DOID:2752 glycogen storage disease II IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type II PMID:17027861|PMID:25626711|PMID:25741868|PMID:28492532|PMID:29149851|PMID:30564623 10041744 CV186555 NM_000152.5(GAA):c.915G>A (p.Gly305=) variant DOID:9001828 Cardiac Form of Generalized Glycogenosis IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Cardiomegalia glycogenica diffusa PMID:17027861|PMID:25626711|PMID:25741868|PMID:28492532|PMID:29149851|PMID:30564623 10041745 CV186556 NM_000152.5(GAA):c.1069G>T (p.Val357Phe) variant DOID:2752 glycogen storage disease II IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type II PMID:25741868|PMID:28492532 10041745 CV186556 NM_000152.5(GAA):c.1069G>T (p.Val357Phe) variant DOID:9001828 Cardiac Form of Generalized Glycogenosis IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Cardiomegalia glycogenica diffusa PMID:25741868|PMID:28492532 10041746 CV186557 NM_000152.5(GAA):c.1375G>A (p.Asp459Asn) variant DOID:2752 glycogen storage disease II IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type II PMID:18458862|PMID:21484825|PMID:21757382|PMID:25741868|PMID:25741875|PMID:28302345|PMID:28492532|PMID:29061980|PMID:33073027|PMID:39481677 10041749 CV186560 NM_000152.5(GAA):c.2092G>A (p.Ala698Thr) variant DOID:2752 glycogen storage disease II IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type II PMID:25741868|PMID:28492532 10041750 CV186561 NM_000152.5(GAA):c.2237G>C (p.Trp746Ser) variant DOID:2752 glycogen storage disease II IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type II PMID:18425781|PMID:18458862|PMID:21232767|PMID:21757382|PMID:22081099|PMID:22644586|PMID:23430493|PMID:24169249|PMID:25093132|PMID:25526786|PMID:25741868|PMID:27099502|PMID:28490439|PMID:28492532|PMID:29325298|PMID:30275481|PMID:31589614 10041751 CV186562 NM_000152.5(GAA):c.2459C>T (p.Ala820Val) variant DOID:2752 glycogen storage disease II IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type II PMID:28492532 10041752 CV186563 NM_000152.5(GAA):c.2845G>A (p.Val949Ile) variant DOID:2752 glycogen storage disease II IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type II PMID:25741868|PMID:28492532 10041753 CV186436 NM_001110219.3(GJB6):c.326G>A (p.Gly109Glu) variant DOID:0110475 autosomal recessive nonsyndromic deafness 1A IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1A PMID:28492532 10041753 CV186436 NM_001110219.3(GJB6):c.326G>A (p.Gly109Glu) variant DOID:0110476 autosomal recessive nonsyndromic deafness 1B IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1b PMID:28492532 10041753 CV186436 NM_001110219.3(GJB6):c.326G>A (p.Gly109Glu) variant DOID:0110565 autosomal dominant nonsyndromic deafness 3B IAGP D RGD:8554872 20250723 ClinVar ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 3B PMID:28492532 10041753 CV186436 NM_001110219.3(GJB6):c.326G>A (p.Gly109Glu) variant DOID:14693 Clouston syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia PMID:28492532 10041753 CV186436 NM_001110219.3(GJB6):c.326G>A (p.Gly109Glu) variant DOID:2121 ectodermal dysplasia IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia PMID:28492532 10041753 CV186436 NM_001110219.3(GJB6):c.326G>A (p.Gly109Glu) variant DOID:630 genetic disease IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10041754 CV186435 NM_001110219.3(GJB6):c.339T>A (p.Asn113Lys) variant DOID:0110475 autosomal recessive nonsyndromic deafness 1A IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1A PMID:24033266|PMID:25741868|PMID:28492532 10041754 CV186435 NM_001110219.3(GJB6):c.339T>A (p.Asn113Lys) variant DOID:0110476 autosomal recessive nonsyndromic deafness 1B IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1b PMID:24033266|PMID:25741868|PMID:28492532 10041754 CV186435 NM_001110219.3(GJB6):c.339T>A (p.Asn113Lys) variant DOID:0110565 autosomal dominant nonsyndromic deafness 3B IAGP D RGD:8554872 20250723 ClinVar ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 3B PMID:24033266|PMID:25741868|PMID:28492532 10041754 CV186435 NM_001110219.3(GJB6):c.339T>A (p.Asn113Lys) variant DOID:14693 Clouston syndrome IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia syndrome PMID:24033266|PMID:25741868|PMID:28492532 10041754 CV186435 NM_001110219.3(GJB6):c.339T>A (p.Asn113Lys) variant DOID:2121 ectodermal dysplasia IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia PMID:24033266|PMID:25741868|PMID:28492532 10041758 CV186591 NM_001110792.2(MECP2):c.619G>A (p.Gly207Ser) variant DOID:0111932 severe congenital encephalopathy due to MECP2 mutation IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:28492532 10041760 CV186595 NM_001110792.2(MECP2):c.1049C>G (p.Thr350Ser) variant DOID:0111932 severe congenital encephalopathy due to MECP2 mutation IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:25741868|PMID:28492532 10041764 CV186320 NM_000249.4(MLH1):c.2251A>T (p.Lys751Ter) variant DOID:0070274 hereditary nonpolyposis colorectal cancer type 2 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 2 10041768 CV186312 NM_000251.3(MSH2):c.1278_1386+1del variant DOID:3883 Lynch syndrome IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Lynch syndrome PMID:14635101|PMID:14729822|PMID:15872200|PMID:15942939|PMID:16203774|PMID:16451135|PMID:17250661|PMID:22781090|PMID:25741868 10041769 CV186313 NM_000251.3(MSH2):c.1984C>T (p.Gln662Ter) variant DOID:0070271 Lynch syndrome 1 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1 PMID:12624141|PMID:15849733|PMID:21642682|PMID:24362816|PMID:28492532|PMID:29345684|PMID:30521064|PMID:31118792 10041769 CV186313 NM_000251.3(MSH2):c.1984C>T (p.Gln662Ter) variant DOID:1520 colon carcinoma IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:12624141|PMID:15849733|PMID:21642682|PMID:24362816|PMID:28492532|PMID:29345684|PMID:30521064|PMID:31118792 10041769 CV186313 NM_000251.3(MSH2):c.1984C>T (p.Gln662Ter) variant DOID:3883 Lynch syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:12624141|PMID:15849733|PMID:21642682|PMID:24362816|PMID:28492532|PMID:29345684|PMID:30521064|PMID:31118792 10041769 CV186313 NM_000251.3(MSH2):c.1984C>T (p.Gln662Ter) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:12624141|PMID:15849733|PMID:21642682|PMID:24362816|PMID:28492532|PMID:29345684|PMID:30521064|PMID:31118792 10041771 CV186416 NM_000256.3(MYBPC3):c.67G>C (p.Ala23Pro) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 10041772 CV186415 NM_000256.3(MYBPC3):c.88G>A (p.Glu30Lys) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10041772 CV186415 NM_000256.3(MYBPC3):c.88G>A (p.Glu30Lys) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 10041775 CV186412 NM_000256.3(MYBPC3):c.188G>A (p.Arg63Gln) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:25741868|PMID:27532257|PMID:28492532|PMID:32841044|PMID:33495597|PMID:33782553|PMID:37652022|PMID:37937776 10041775 CV186412 NM_000256.3(MYBPC3):c.188G>A (p.Arg63Gln) variant DOID:0081158 dilated cardiomyopathy 1MM IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 10 PMID:25741868|PMID:27532257|PMID:28492532|PMID:32841044|PMID:33495597|PMID:33782553|PMID:37652022|PMID:37937776 10041775 CV186412 NM_000256.3(MYBPC3):c.188G>A (p.Arg63Gln) variant DOID:0110310 hypertrophic cardiomyopathy 4 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4 PMID:25741868|PMID:27532257|PMID:28492532|PMID:32841044|PMID:33495597|PMID:33782553|PMID:37652022|PMID:37937776 10041775 CV186412 NM_000256.3(MYBPC3):c.188G>A (p.Arg63Gln) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:27532257|PMID:28492532|PMID:32841044|PMID:33495597|PMID:33782553|PMID:37652022|PMID:37937776 10041777 CV186410 NM_000256.3(MYBPC3):c.339C>T (p.Ala113=) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868 10041777 CV186410 NM_000256.3(MYBPC3):c.339C>T (p.Ala113=) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868 10041778 CV186409 NM_000256.3(MYBPC3):c.446C>T (p.Ala149Val) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:24440382|PMID:25741868|PMID:28492532|PMID:29192238|PMID:33588347|PMID:38296580 10041778 CV186409 NM_000256.3(MYBPC3):c.446C>T (p.Ala149Val) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:24440382|PMID:25741868|PMID:28492532|PMID:29192238|PMID:33588347|PMID:38296580 10041780 CV186408 NM_000256.3(MYBPC3):c.506-24G>A variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868 10041782 CV186405 NM_000256.3(MYBPC3):c.654+18G>A variant DOID:0110310 hypertrophic cardiomyopathy 4 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4 PMID:28492532 10041782 CV186405 NM_000256.3(MYBPC3):c.654+18G>A variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 10041783 CV186404 NM_000256.3(MYBPC3):c.655-18G>A variant DOID:0110310 hypertrophic cardiomyopathy 4 IAGP D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4 PMID:25741868|PMID:28492532 10041783 CV186404 NM_000256.3(MYBPC3):c.655-18G>A variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 10041784 CV186403 NM_000256.3(MYBPC3):c.655G>T (p.Val219Phe) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:15519027|PMID:20031602|PMID:20031618|PMID:20624503|PMID:25741868|PMID:26914223|PMID:28492532|PMID:35838873 10041785 CV186400 NC_000011.10:g.47348498_47348523dup variant DOID:0110310 hypertrophic cardiomyopathy 4 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4 PMID:19574547|PMID:25741868|PMID:28492532 10041785 CV186400 NC_000011.10:g.47348498_47348523dup variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:19574547|PMID:25741868|PMID:28492532 10041786 CV186402 NM_000256.3(MYBPC3):c.681C>T (p.Thr227=) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10041786 CV186402 NM_000256.3(MYBPC3):c.681C>T (p.Thr227=) variant DOID:0081158 dilated cardiomyopathy 1MM IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 10 PMID:25741868|PMID:28492532 10041786 CV186402 NM_000256.3(MYBPC3):c.681C>T (p.Thr227=) variant DOID:0110310 hypertrophic cardiomyopathy 4 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4 PMID:25741868|PMID:28492532 10041786 CV186402 NM_000256.3(MYBPC3):c.681C>T (p.Thr227=) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 10041790 CV186397 NM_000256.3(MYBPC3):c.852-10C>G variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23711808|PMID:24033266|PMID:25741868|PMID:28492532 10041790 CV186397 NM_000256.3(MYBPC3):c.852-10C>G variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23711808|PMID:24033266|PMID:25741868|PMID:28492532 10041791 CV186396 NM_000256.3(MYBPC3):c.909C>T (p.Asp303=) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10041791 CV186396 NM_000256.3(MYBPC3):c.909C>T (p.Asp303=) variant DOID:0110310 hypertrophic cardiomyopathy 4 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: MYBPC3-related condition PMID:25741868|PMID:28492532 10041791 CV186396 NM_000256.3(MYBPC3):c.909C>T (p.Asp303=) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 10041794 CV186392 NM_000256.3(MYBPC3):c.1091-24C>T variant DOID:0081158 dilated cardiomyopathy 1MM IAGP D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 10 PMID:25741868 10041794 CV186392 NM_000256.3(MYBPC3):c.1091-24C>T variant DOID:0110310 hypertrophic cardiomyopathy 4 IAGP D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 4 PMID:25741868 10041796 CV186391 NM_000256.3(MYBPC3):c.1223+29G>A variant DOID:0081158 dilated cardiomyopathy 1MM IAGP D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 10 PMID:25741868 10041796 CV186391 NM_000256.3(MYBPC3):c.1223+29G>A variant DOID:0110310 hypertrophic cardiomyopathy 4 IAGP D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 4 PMID:25741868 10041797 CV186390 NM_000256.3(MYBPC3):c.1224-52G>A variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:25741868|PMID:28492532|PMID:30025578|PMID:32163302|PMID:32396390|PMID:32841044|PMID:33657327|PMID:35288587|PMID:35508642|PMID:36980931|PMID:38489124 10041797 CV186390 NM_000256.3(MYBPC3):c.1224-52G>A variant DOID:0081158 dilated cardiomyopathy 1MM IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 10 PMID:25741868|PMID:28492532|PMID:30025578|PMID:32163302|PMID:32396390|PMID:32841044|PMID:33657327|PMID:35288587|PMID:35508642|PMID:36980931|PMID:38489124 10041797 CV186390 NM_000256.3(MYBPC3):c.1224-52G>A variant DOID:0110310 hypertrophic cardiomyopathy 4 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: MYBPC3-related condition PMID:25741868|PMID:28492532|PMID:30025578|PMID:32163302|PMID:32396390|PMID:32841044|PMID:33657327|PMID:35288587|PMID:35508642|PMID:36980931|PMID:38489124 10041797 CV186390 NM_000256.3(MYBPC3):c.1224-52G>A variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532|PMID:30025578|PMID:32163302|PMID:32396390|PMID:32841044|PMID:33657327|PMID:35288587|PMID:35508642|PMID:36980931|PMID:38489124 10041800 CV186387 NM_000256.3(MYBPC3):c.1351G>T (p.Glu451Ter) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:19574547|PMID:28492532 10041801 CV186386 NM_000256.3(MYBPC3):c.1377del (p.Leu460fs) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:19574547|PMID:21165360|PMID:23283745|PMID:23711808|PMID:25741868|PMID:26090888|PMID:28492532|PMID:32841044|PMID:34087240|PMID:34601892|PMID:34785479 10041801 CV186386 NM_000256.3(MYBPC3):c.1377del (p.Leu460fs) variant DOID:0110310 hypertrophic cardiomyopathy 4 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4 PMID:19574547|PMID:21165360|PMID:23283745|PMID:23711808|PMID:25741868|PMID:26090888|PMID:28492532|PMID:32841044|PMID:34087240|PMID:34601892|PMID:34785479 10041801 CV186386 NM_000256.3(MYBPC3):c.1377del (p.Leu460fs) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:19574547|PMID:21165360|PMID:23283745|PMID:23711808|PMID:25741868|PMID:26090888|PMID:28492532|PMID:32841044|PMID:34087240|PMID:34601892|PMID:34785479 10041802 CV186384 NM_000256.3(MYBPC3):c.1458-17C>T variant DOID:0110310 hypertrophic cardiomyopathy 4 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4 PMID:28492532 10041802 CV186384 NM_000256.3(MYBPC3):c.1458-17C>T variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 10041804 CV186383 NM_000256.3(MYBPC3):c.1467C>G (p.Asp489Glu) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868 10041808 CV186380 NM_000256.3(MYBPC3):c.1625-12C>T variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10041808 CV186380 NM_000256.3(MYBPC3):c.1625-12C>T variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 10041809 CV186378 NM_000256.3(MYBPC3):c.1719T>A (p.Val573=) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10041809 CV186378 NM_000256.3(MYBPC3):c.1719T>A (p.Val573=) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 10041810 CV186377 NM_000256.3(MYBPC3):c.1791-15A>G variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868 10041815 CV186372 NM_000256.3(MYBPC3):c.2030C>T (p.Pro677Leu) variant DOID:0110310 hypertrophic cardiomyopathy 4 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4 PMID:25741868|PMID:27532257|PMID:28492532|PMID:33782553|PMID:36252119|PMID:37652022 10041815 CV186372 NM_000256.3(MYBPC3):c.2030C>T (p.Pro677Leu) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:27532257|PMID:28492532|PMID:33782553|PMID:36252119|PMID:37652022 10041816 CV186371 NM_000256.3(MYBPC3):c.2189C>T (p.Thr730Ile) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 10041817 CV186370 NM_000256.3(MYBPC3):c.2200A>G (p.Ser734Gly) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532|PMID:30731207 10041817 CV186370 NM_000256.3(MYBPC3):c.2200A>G (p.Ser734Gly) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532|PMID:30731207 10041818 CV186369 NM_000256.3(MYBPC3):c.2217G>T (p.Glu739Asp) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10041818 CV186369 NM_000256.3(MYBPC3):c.2217G>T (p.Glu739Asp) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 10041819 CV186368 NM_000256.3(MYBPC3):c.2308+18C>G variant DOID:0110310 hypertrophic cardiomyopathy 4 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4 PMID:25741868|PMID:28492532 10041819 CV186368 NM_000256.3(MYBPC3):c.2308+18C>G variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 10041820 CV186367 NM_000256.3(MYBPC3):c.2309-27G>A variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868 10041822 CV186365 NM_000256.3(MYBPC3):c.2435A>G (p.Lys812Arg) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532|PMID:30297972|PMID:33782553 10041823 CV186364 NM_000256.3(MYBPC3):c.2737+13G>A variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 10041824 CV186363 NM_000256.3(MYBPC3):c.2808G>A (p.Thr936=) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10041824 CV186363 NM_000256.3(MYBPC3):c.2808G>A (p.Thr936=) variant DOID:0110310 hypertrophic cardiomyopathy 4 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: MYBPC3-related condition PMID:25741868|PMID:28492532 10041824 CV186363 NM_000256.3(MYBPC3):c.2808G>A (p.Thr936=) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 10041825 CV186362 NM_000256.3(MYBPC3):c.2846dup (p.Met949fs) variant DOID:0110310 hypertrophic cardiomyopathy 4 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4 PMID:19574547|PMID:21302287|PMID:25741868|PMID:28492532|PMID:29875424 10041825 CV186362 NM_000256.3(MYBPC3):c.2846dup (p.Met949fs) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:19574547|PMID:21302287|PMID:25741868|PMID:28492532|PMID:29875424 10041826 CV186361 NM_000256.3(MYBPC3):c.2860G>A (p.Ala954Thr) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532|PMID:32841044|PMID:33495597|PMID:37652022 10041827 CV186360 NM_000256.3(MYBPC3):c.3017C>A (p.Thr1006Asn) variant DOID:0110310 hypertrophic cardiomyopathy 4 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: MYBPC3-related condition 10041828 CV186359 NM_000256.3(MYBPC3):c.3103G>A (p.Ala1035Thr) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:25741868|PMID:27600940|PMID:28492532|PMID:30847666|PMID:36328362 10041828 CV186359 NM_000256.3(MYBPC3):c.3103G>A (p.Ala1035Thr) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:27600940|PMID:28492532|PMID:30847666|PMID:36328362 10041829 CV186358 NM_000256.3(MYBPC3):c.3143G>A (p.Arg1048His) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10041829 CV186358 NM_000256.3(MYBPC3):c.3143G>A (p.Arg1048His) variant DOID:0110310 hypertrophic cardiomyopathy 4 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4 PMID:25741868|PMID:28492532 10041829 CV186358 NM_000256.3(MYBPC3):c.3143G>A (p.Arg1048His) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 10041832 CV186355 NM_000256.3(MYBPC3):c.3279C>T (p.Gly1093=) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10041832 CV186355 NM_000256.3(MYBPC3):c.3279C>T (p.Gly1093=) variant DOID:0110310 hypertrophic cardiomyopathy 4 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: MYBPC3-related condition PMID:25741868|PMID:28492532 10041832 CV186355 NM_000256.3(MYBPC3):c.3279C>T (p.Gly1093=) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 10041833 CV186354 NM_000256.3(MYBPC3):c.3314C>G (p.Ala1105Gly) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868 10041834 CV186353 NM_000256.3(MYBPC3):c.3373G>T (p.Val1125Leu) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868 10041834 CV186353 NM_000256.3(MYBPC3):c.3373G>T (p.Val1125Leu) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868 10041835 CV186352 NM_000256.3(MYBPC3):c.3414C>T (p.Arg1138=) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10041835 CV186352 NM_000256.3(MYBPC3):c.3414C>T (p.Arg1138=) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 10041836 CV186351 NM_000256.3(MYBPC3):c.3486A>T (p.Arg1162Ser) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 10041838 CV186349 NM_000256.3(MYBPC3):c.3547T>C (p.Phe1183Leu) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868 10041841 CV186346 NM_000256.3(MYBPC3):c.3737T>C (p.Phe1246Ser) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10041841 CV186346 NM_000256.3(MYBPC3):c.3737T>C (p.Phe1246Ser) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 10041842 CV186345 NM_000256.3(MYBPC3):c.3741C>T (p.Asp1247=) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10041842 CV186345 NM_000256.3(MYBPC3):c.3741C>T (p.Asp1247=) variant DOID:0081158 dilated cardiomyopathy 1MM IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 10 PMID:25741868|PMID:28492532 10041842 CV186345 NM_000256.3(MYBPC3):c.3741C>T (p.Asp1247=) variant DOID:0110310 hypertrophic cardiomyopathy 4 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 4 PMID:25741868|PMID:28492532 10041842 CV186345 NM_000256.3(MYBPC3):c.3741C>T (p.Asp1247=) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 10041844 CV186343 NM_000256.3(MYBPC3):c.3803T>C (p.Leu1268Pro) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 10041849 CV186513 NM_000257.4(MYH7):c.530C>T (p.Thr177Ile) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:20624503|PMID:20800588|PMID:23140321|PMID:24033266|PMID:25125180|PMID:25741868|PMID:27247418|PMID:28492532|PMID:28771489|PMID:28840316|PMID:29687901 10041849 CV186513 NM_000257.4(MYH7):c.530C>T (p.Thr177Ile) variant DOID:0110307 hypertrophic cardiomyopathy 1 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 PMID:20624503|PMID:20800588|PMID:23140321|PMID:24033266|PMID:25125180|PMID:25741868|PMID:27247418|PMID:28492532|PMID:28771489|PMID:28840316|PMID:29687901 10041849 CV186513 NM_000257.4(MYH7):c.530C>T (p.Thr177Ile) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:20624503|PMID:20800588|PMID:23140321|PMID:24033266|PMID:25125180|PMID:25741868|PMID:27247418|PMID:28492532|PMID:28771489|PMID:28840316|PMID:29687901 10041850 CV186512 NM_000257.4(MYH7):c.530+9A>T variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10041850 CV186512 NM_000257.4(MYH7):c.530+9A>T variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 10041852 CV186510 NM_000257.4(MYH7):c.639+20A>G variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 10041853 CV186509 NM_000257.4(MYH7):c.733-16del variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 10041854 CV186508 NM_000257.4(MYH7):c.797-17T>C variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 10041855 CV186507 NM_000257.4(MYH7):c.829C>G (p.Leu277Val) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:27532257|PMID:28492532|PMID:30731207 10041856 CV186506 NM_000257.4(MYH7):c.895+17G>A variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 10041858 CV186504 NM_000257.4(MYH7):c.934T>G (p.Phe312Val) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868 10041859 CV186503 NM_000257.4(MYH7):c.936C>T (p.Phe312=) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:25741868|PMID:28492532 10041859 CV186503 NM_000257.4(MYH7):c.936C>T (p.Phe312=) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 10041860 CV186500 NM_000257.4(MYH7):c.1579-17C>T variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 10041864 CV186498 NM_000257.4(MYH7):c.1887G>A (p.Ala629=) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10041864 CV186498 NM_000257.4(MYH7):c.1887G>A (p.Ala629=) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 10041867 CV186495 NM_000257.4(MYH7):c.2162+9G>A variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 10041868 CV186494 NM_000257.4(MYH7):c.2334C>A (p.Asp778Glu) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:11748309|PMID:12566107|PMID:12707239|PMID:18761664|PMID:19035361|PMID:21896538|PMID:22112859|PMID:25543971|PMID:27247418|PMID:28492532 10041871 CV186491 NM_000257.4(MYH7):c.2812G>T (p.Ala938Ser) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10041871 CV186491 NM_000257.4(MYH7):c.2812G>T (p.Ala938Ser) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 10041873 CV186489 NM_000257.4(MYH7):c.2923-18G>A variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10041873 CV186489 NM_000257.4(MYH7):c.2923-18G>A variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 10041876 CV186486 NM_000257.4(MYH7):c.3270C>T (p.Leu1090=) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10041876 CV186486 NM_000257.4(MYH7):c.3270C>T (p.Leu1090=) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 10041877 CV186485 NM_000257.4(MYH7):c.3345C>T (p.Ile1115=) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10041877 CV186485 NM_000257.4(MYH7):c.3345C>T (p.Ile1115=) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 10041878 CV186484 NM_000257.4(MYH7):c.3612C>T (p.Gly1204=) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10041878 CV186484 NM_000257.4(MYH7):c.3612C>T (p.Gly1204=) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 10041879 CV186483 NM_000257.4(MYH7):c.3726+17C>T variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 10041881 CV186481 NM_000257.4(MYH7):c.3770A>G (p.Asn1257Ser) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:24033266|PMID:25351510|PMID:25741868|PMID:28492532|PMID:29300372 10041881 CV186481 NM_000257.4(MYH7):c.3770A>G (p.Asn1257Ser) variant DOID:0060253 scapuloperoneal myopathy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE PMID:23861362|PMID:24033266|PMID:25351510|PMID:25741868|PMID:28492532|PMID:29300372 10041881 CV186481 NM_000257.4(MYH7):c.3770A>G (p.Asn1257Ser) variant DOID:0070197 distal myopathy 1 IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Myopathy, distal, 1 PMID:23861362|PMID:24033266|PMID:25351510|PMID:25741868|PMID:28492532|PMID:29300372 10041881 CV186481 NM_000257.4(MYH7):c.3770A>G (p.Asn1257Ser) variant DOID:0110307 hypertrophic cardiomyopathy 1 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 PMID:23861362|PMID:24033266|PMID:25351510|PMID:25741868|PMID:28492532|PMID:29300372 10041881 CV186481 NM_000257.4(MYH7):c.3770A>G (p.Asn1257Ser) variant DOID:0111267 hyaline body myopathy IAGP D RGD:8554872 20190723 ClinVar ClinVar Annotator: match by term: Myosin storage myopathy PMID:23861362|PMID:24033266|PMID:25351510|PMID:25741868|PMID:28492532|PMID:29300372 10041881 CV186481 NM_000257.4(MYH7):c.3770A>G (p.Asn1257Ser) variant DOID:0111269 autosomal dominant hyaline body myopathy IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Myosin storage myopathy PMID:23861362|PMID:24033266|PMID:25351510|PMID:25741868|PMID:28492532|PMID:29300372 10041881 CV186481 NM_000257.4(MYH7):c.3770A>G (p.Asn1257Ser) variant DOID:11720 distal myopathy IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY PMID:23861362|PMID:24033266|PMID:25351510|PMID:25741868|PMID:28492532|PMID:29300372 10041881 CV186481 NM_000257.4(MYH7):c.3770A>G (p.Asn1257Ser) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:24033266|PMID:25351510|PMID:25741868|PMID:28492532|PMID:29300372 10041881 CV186481 NM_000257.4(MYH7):c.3770A>G (p.Asn1257Ser) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant PMID:23861362|PMID:24033266|PMID:25351510|PMID:25741868|PMID:28492532|PMID:29300372 10041881 CV186481 NM_000257.4(MYH7):c.3770A>G (p.Asn1257Ser) variant DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:23861362|PMID:24033266|PMID:25351510|PMID:25741868|PMID:28492532|PMID:29300372 10041883 CV186479 NM_000257.4(MYH7):c.3861G>C (p.Leu1287=) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 10041883 CV186479 NM_000257.4(MYH7):c.3861G>C (p.Leu1287=) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 10041884 CV186478 NM_000257.4(MYH7):c.3972+16G>A variant DOID:0110307 hypertrophic cardiomyopathy 1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 PMID:25741868|PMID:28492532 10041884 CV186478 NM_000257.4(MYH7):c.3972+16G>A variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 10041885 CV186477 NM_000257.4(MYH7):c.4182C>T (p.Ala1394=) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 10041885 CV186477 NM_000257.4(MYH7):c.4182C>T (p.Ala1394=) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 10041886 CV186476 NM_000257.4(MYH7):c.4215G>A (p.Glu1405=) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10041886 CV186476 NM_000257.4(MYH7):c.4215G>A (p.Glu1405=) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 10041887 CV186475 NM_000257.4(MYH7):c.4353+17G>A variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 10041889 CV186473 NM_000257.4(MYH7):c.4520-25C>T variant DOID:0110307 hypertrophic cardiomyopathy 1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 PMID:25741868|PMID:28492532 10041889 CV186473 NM_000257.4(MYH7):c.4520-25C>T variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20181009 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 10041890 CV186472 NM_000257.4(MYH7):c.4644+24G>T variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10041890 CV186472 NM_000257.4(MYH7):c.4644+24G>T variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 10041891 CV186471 NM_000257.4(MYH7):c.4980A>C (p.Ala1660=) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10041891 CV186471 NM_000257.4(MYH7):c.4980A>C (p.Ala1660=) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 10041893 CV186469 NM_000257.4(MYH7):c.5017A>T (p.Ile1673Phe) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868 10041894 CV186468 NM_000257.4(MYH7):c.5139G>A (p.Val1713=) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10041894 CV186468 NM_000257.4(MYH7):c.5139G>A (p.Val1713=) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 10041897 CV186465 NM_000257.4(MYH7):c.5400C>T (p.Ala1800=) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10041897 CV186465 NM_000257.4(MYH7):c.5400C>T (p.Ala1800=) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 10041901 CV186461 NM_000257.4(MYH7):c.5771G>T (p.Ser1924Ile) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24714796|PMID:25741868|PMID:29300372 10041901 CV186461 NM_000257.4(MYH7):c.5771G>T (p.Ser1924Ile) variant DOID:0110307 hypertrophic cardiomyopathy 1 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 PMID:24714796|PMID:25741868|PMID:29300372 10041902 CV186460 NM_000257.4(MYH7):c.*20G>A variant DOID:0060253 scapuloperoneal myopathy IAGP D RGD:8554872 20181009 ClinVar ClinVar Annotator: match by term: Scapuloperoneal myopathy PMID:25741868 10041902 CV186460 NM_000257.4(MYH7):c.*20G>A variant DOID:0070197 distal myopathy 1 IAGP D RGD:8554872 20181009 ClinVar ClinVar Annotator: match by term: Myopathy, distal, 1 PMID:25741868 10041902 CV186460 NM_000257.4(MYH7):c.*20G>A variant DOID:0110307 hypertrophic cardiomyopathy 1 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 PMID:25741868 10041902 CV186460 NM_000257.4(MYH7):c.*20G>A variant DOID:0111267 hyaline body myopathy IAGP D RGD:8554872 20190723 ClinVar ClinVar Annotator: match by term: Myosin storage myopathy PMID:25741868 10041902 CV186460 NM_000257.4(MYH7):c.*20G>A variant DOID:0111269 autosomal dominant hyaline body myopathy IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT PMID:25741868 10041902 CV186460 NM_000257.4(MYH7):c.*20G>A variant DOID:11720 distal myopathy IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY PMID:25741868 10041902 CV186460 NM_000257.4(MYH7):c.*20G>A variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20181009 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868 10041902 CV186460 NM_000257.4(MYH7):c.*20G>A variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20181009 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant PMID:25741868 10041902 CV186460 NM_000257.4(MYH7):c.*20G>A variant DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction IAGP D RGD:8554872 20181009 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:25741868 10041904 CV186431 NM_001005242.3(PKP2):c.-22C>G variant DOID:0110077 arrhythmogenic right ventricular dysplasia 9 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 PMID:25741868 10041905 CV186430 NM_001005242.3(PKP2):c.224-3C>G variant DOID:0050431 arrhythmogenic right ventricular cardiomyopathy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:17576681|PMID:23671136|PMID:23871885|PMID:24125834|PMID:25196244|PMID:25741868|PMID:25820315|PMID:28492532|PMID:30161220|PMID:30830208|PMID:36138163|PMID:37418234|PMID:9536098 10041905 CV186430 NM_001005242.3(PKP2):c.224-3C>G variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:17576681|PMID:23671136|PMID:23871885|PMID:24125834|PMID:25196244|PMID:25741868|PMID:25820315|PMID:28492532|PMID:30161220|PMID:30830208|PMID:36138163|PMID:37418234|PMID:9536098 10041905 CV186430 NM_001005242.3(PKP2):c.224-3C>G variant DOID:0110077 arrhythmogenic right ventricular dysplasia 9 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9 PMID:17576681|PMID:23671136|PMID:23871885|PMID:24125834|PMID:25196244|PMID:25741868|PMID:25820315|PMID:28492532|PMID:30161220|PMID:30830208|PMID:36138163|PMID:37418234|PMID:9536098 10041906 CV186428 NM_001005242.3(PKP2):c.337-19T>G variant DOID:0110077 arrhythmogenic right ventricular dysplasia 9 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 PMID:28492532 10041907 CV186426 NM_001005242.3(PKP2):c.804C>T (p.Val268=) variant DOID:0050431 arrhythmogenic right ventricular cardiomyopathy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:25741868|PMID:28492532 10041907 CV186426 NM_001005242.3(PKP2):c.804C>T (p.Val268=) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10041907 CV186426 NM_001005242.3(PKP2):c.804C>T (p.Val268=) variant DOID:0110077 arrhythmogenic right ventricular dysplasia 9 IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 PMID:25741868|PMID:28492532 10041908 CV186423 NM_001005242.3(PKP2):c.2121G>A (p.Ser707=) variant DOID:0050431 arrhythmogenic right ventricular cardiomyopathy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:25741868|PMID:28492532 10041908 CV186423 NM_001005242.3(PKP2):c.2121G>A (p.Ser707=) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10041908 CV186423 NM_001005242.3(PKP2):c.2121G>A (p.Ser707=) variant DOID:0110077 arrhythmogenic right ventricular dysplasia 9 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 PMID:25741868|PMID:28492532 10041909 CV186422 NM_001005242.3(PKP2):c.2168-21del variant DOID:0110077 arrhythmogenic right ventricular dysplasia 9 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 PMID:28492532 10041910 CV186421 NM_001005242.3(PKP2):c.2168-21_2168-20del variant DOID:0110077 arrhythmogenic right ventricular dysplasia 9 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 PMID:28492532 10041911 CV186418 NM_001005242.3(PKP2):c.2332A>G (p.Ile778Val) variant DOID:0050431 arrhythmogenic right ventricular cardiomyopathy IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, ARVC PMID:25741868|PMID:28492532|PMID:32553227 10041911 CV186418 NM_001005242.3(PKP2):c.2332A>G (p.Ile778Val) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532|PMID:32553227 10041911 CV186418 NM_001005242.3(PKP2):c.2332A>G (p.Ile778Val) variant DOID:0110077 arrhythmogenic right ventricular dysplasia 9 IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 PMID:25741868|PMID:28492532|PMID:32553227 10041913 CV186586 NM_000363.5(TNNI3):c.-98C>A variant DOID:0110313 hypertrophic cardiomyopathy 7 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 7 10041913 CV186586 NM_000363.5(TNNI3):c.-98C>A variant DOID:0110460 dilated cardiomyopathy 2A IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 2A 10041913 CV186586 NM_000363.5(TNNI3):c.-98C>A variant DOID:0111425 familial restrictive cardiomyopathy 1 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Familial restrictive cardiomyopathy 1 10041913 CV186586 NM_000363.5(TNNI3):c.-98C>A variant DOID:384 Wolff-Parkinson-White syndrome IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome 10041914 CV186585 NM_000363.5(TNNI3):c.-47C>T variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:25940119 10041914 CV186585 NM_000363.5(TNNI3):c.-47C>T variant DOID:0110313 hypertrophic cardiomyopathy 7 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 7 PMID:25741868|PMID:25940119 10041914 CV186585 NM_000363.5(TNNI3):c.-47C>T variant DOID:0110460 dilated cardiomyopathy 2A IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 2A PMID:25741868|PMID:25940119 10041914 CV186585 NM_000363.5(TNNI3):c.-47C>T variant DOID:0111425 familial restrictive cardiomyopathy 1 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Familial restrictive cardiomyopathy 1 PMID:25741868|PMID:25940119 10041914 CV186585 NM_000363.5(TNNI3):c.-47C>T variant DOID:384 Wolff-Parkinson-White syndrome IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome PMID:25741868|PMID:25940119 10041917 CV186582 NM_000363.5(TNNI3):c.151-8C>T variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 10041918 CV186581 NM_000363.5(TNNI3):c.232A>T (p.Thr78Ser) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:23861362|PMID:25741868|PMID:28492532|PMID:30731207 10041918 CV186581 NM_000363.5(TNNI3):c.232A>T (p.Thr78Ser) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532|PMID:30731207 10041919 CV186580 NM_000363.5(TNNI3):c.339C>T (p.Asp113=) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 10041921 CV186578 NM_000363.5(TNNI3):c.439G>C (p.Val147Leu) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24111713|PMID:25741868|PMID:27532257|PMID:28492532 10041921 CV186578 NM_000363.5(TNNI3):c.439G>C (p.Val147Leu) variant DOID:0110313 hypertrophic cardiomyopathy 7 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 7 PMID:24111713|PMID:25741868|PMID:27532257|PMID:28492532 10041921 CV186578 NM_000363.5(TNNI3):c.439G>C (p.Val147Leu) variant DOID:0110460 dilated cardiomyopathy 2A IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 2A PMID:24111713|PMID:25741868|PMID:27532257|PMID:28492532 10041921 CV186578 NM_000363.5(TNNI3):c.439G>C (p.Val147Leu) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:24111713|PMID:25741868|PMID:27532257|PMID:28492532 10041922 CV186577 NM_000363.5(TNNI3):c.471G>A (p.Ala157=) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10041922 CV186577 NM_000363.5(TNNI3):c.471G>A (p.Ala157=) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 10041924 CV186575 NM_000363.5(TNNI3):c.*35C>T variant DOID:0110313 hypertrophic cardiomyopathy 7 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 7 10041924 CV186575 NM_000363.5(TNNI3):c.*35C>T variant DOID:0110460 dilated cardiomyopathy 2A IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 2A 10041924 CV186575 NM_000363.5(TNNI3):c.*35C>T variant DOID:0111425 familial restrictive cardiomyopathy 1 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Familial restrictive cardiomyopathy 1 10041924 CV186575 NM_000363.5(TNNI3):c.*35C>T variant DOID:384 Wolff-Parkinson-White syndrome IAGP D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome 10041925 CV186309 NM_001276345.2(TNNT2):c.42-20G>A variant DOID:0110308 hypertrophic cardiomyopathy 2 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 2 PMID:25741868|PMID:28492532 10041925 CV186309 NM_001276345.2(TNNT2):c.42-20G>A variant DOID:0110426 dilated cardiomyopathy 1D IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1D PMID:25741868|PMID:28492532 10041925 CV186309 NM_001276345.2(TNNT2):c.42-20G>A variant DOID:0111427 familial restrictive cardiomyopathy 3 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, familial restrictive, 3 PMID:25741868|PMID:28492532 10041925 CV186309 NM_001276345.2(TNNT2):c.42-20G>A variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 10041928 CV186306 NM_001276345.2(TNNT2):c.200-29C>G variant DOID:0110308 hypertrophic cardiomyopathy 2 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 2 PMID:25741868 10041928 CV186306 NM_001276345.2(TNNT2):c.200-29C>G variant DOID:0110426 dilated cardiomyopathy 1D IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1D PMID:25741868 10041928 CV186306 NM_001276345.2(TNNT2):c.200-29C>G variant DOID:0111427 familial restrictive cardiomyopathy 3 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, familial restrictive, 3 PMID:25741868 10041929 CV186305 NM_001276345.2(TNNT2):c.200-11A>G variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 10041929 CV186305 NM_001276345.2(TNNT2):c.200-11A>G variant DOID:0110308 hypertrophic cardiomyopathy 2 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 2 PMID:24033266|PMID:25741868|PMID:28492532 10041929 CV186305 NM_001276345.2(TNNT2):c.200-11A>G variant DOID:0110426 dilated cardiomyopathy 1D IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 6 PMID:24033266|PMID:25741868|PMID:28492532 10041929 CV186305 NM_001276345.2(TNNT2):c.200-11A>G variant DOID:0111427 familial restrictive cardiomyopathy 3 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Familial restrictive cardiomyopathy 3 PMID:24033266|PMID:25741868|PMID:28492532 10041931 CV186303 NM_001276345.2(TNNT2):c.406A>T (p.Arg136Trp) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868 10041932 CV186302 NM_001276345.2(TNNT2):c.453G>C (p.Arg151=) variant DOID:0110308 hypertrophic cardiomyopathy 2 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 2 PMID:25741868|PMID:28492532 10041932 CV186302 NM_001276345.2(TNNT2):c.453G>C (p.Arg151=) variant DOID:0110426 dilated cardiomyopathy 1D IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1D PMID:25741868|PMID:28492532 10041932 CV186302 NM_001276345.2(TNNT2):c.453G>C (p.Arg151=) variant DOID:0111427 familial restrictive cardiomyopathy 3 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, familial restrictive, 3 PMID:25741868|PMID:28492532 10041935 CV186299 NM_001276345.2(TNNT2):c.736C>T (p.Leu246=) variant DOID:0110308 hypertrophic cardiomyopathy 2 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 2 PMID:28492532 10041939 CV186517 NM_001018005.2(TPM1):c.82G>T (p.Asp28Tyr) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 10041944 CV186522 NM_001018005.2(TPM1):c.560A>T (p.Glu187Val) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:25741868|PMID:28492532 10041944 CV186522 NM_001018005.2(TPM1):c.560A>T (p.Glu187Val) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 10041947 CV186525 NM_001018005.2(TPM1):c.603G>A (p.Thr201=) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 10041951 CV186529 NM_001018005.2(TPM1):c.746T>G (p.Leu249Trp) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868 10041951 CV186529 NM_001018005.2(TPM1):c.746T>G (p.Leu249Trp) variant DOID:0080326 familial hypertrophic cardiomyopathy IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:25741868 10041952 CV186531 NM_001018005.2(TPM1):c.773-18T>C variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 10041955 CV186532 NM_001018005.2(TPM1):c.851T>C (p.Ile284Thr) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532|PMID:29255176|PMID:31513939 10041956 CV186534 NM_001018005.2(TPM1):c.*5_*8del variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868 10041957 CV187076 NM_000017.4(ACADS):c.409C>T (p.Gln137Ter) variant DOID:0080154 short chain acyl-CoA dehydrogenase deficiency IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase PMID:12736383|PMID:14568186|PMID:18523805|PMID:28492532 10041958 CV187077 NM_000017.4(ACADS):c.682_683del (p.Glu228fs) variant DOID:0080154 short chain acyl-CoA dehydrogenase deficiency IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase PMID:12736383|PMID:18523805|PMID:22241096|PMID:25741868|PMID:28492532 10041959 CV187088 NM_152564.5(VPS13B):c.9331-1G>C variant DOID:0111590 Cohen syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:11169562|PMID:19190672 10041961 CV187139 NC_000012.12:g.121641149C>T variant DOID:0080686 tubular aggregate myopathy 2 IAGP D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Myopathy, tubular aggregate, 2 PMID:25227914|PMID:28492532|PMID:30382595 10041961 CV187139 NC_000012.12:g.121641149C>T variant DOID:0111976 immunodeficiency 9 IAGP D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to ORAI1 deficiency PMID:25227914|PMID:28492532|PMID:30382595 10041962 CV187147 NM_003632.3(CNTNAP1):c.2993-1_2995del variant DOID:9000854 Lethal Congenital Contracture Syndrome 7 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Lethal congenital contracture syndrome 7 PMID:24319099 10041963 CV187164 NM_014795.4(ZEB2):c.1257del (p.Gly421fs) variant DOID:0060485 Mowat-Wilson syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: ZEB2-related condition PMID:25741868 10041964 CV187172 NM_014795.4(ZEB2):c.20_21insT (p.Asp8fs) variant DOID:0060485 Mowat-Wilson syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Mowat-Wilson syndrome 10041965 CV187155 NM_014795.4(ZEB2):c.1944del (p.Ile649fs) variant DOID:0060485 Mowat-Wilson syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Mowat-Wilson syndrome 10041968 CV187168 NM_014795.4(ZEB2):c.660C>G (p.Tyr220Ter) variant DOID:0060485 Mowat-Wilson syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Mowat-Wilson syndrome 10041969 CV187161 NM_014795.4(ZEB2):c.1541_1542insA (p.Val515fs) variant DOID:0060485 Mowat-Wilson syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Mowat-Wilson syndrome 10041970 CV187167 NM_014795.4(ZEB2):c.703del (p.Glu235fs) variant DOID:0060485 Mowat-Wilson syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Mowat-Wilson syndrome 10041971 CV187163 NM_014795.4(ZEB2):c.1277T>G (p.Leu426Ter) variant DOID:0060485 Mowat-Wilson syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Mowat-Wilson syndrome 10041972 CV187158 NM_014795.4(ZEB2):c.1749C>A (p.Cys583Ter) variant DOID:0060485 Mowat-Wilson syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Mowat-Wilson syndrome 10041973 CV187157 NM_014795.4(ZEB2):c.1754del (p.Phe585fs) variant DOID:0060485 Mowat-Wilson syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Mowat-Wilson syndrome 10041974 CV187152 NM_014795.4(ZEB2):c.2179_2180del (p.Leu727fs) variant DOID:0060485 Mowat-Wilson syndrome IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mowat-Wilson syndrome PMID:11592033|PMID:16053902|PMID:19842203|PMID:28492532 10041975 CV187156 NM_014795.4(ZEB2):c.1884del (p.Phe628fs) variant DOID:0060485 Mowat-Wilson syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mowat-Wilson syndrome PMID:25741868 10041976 CV187170 NM_014795.4(ZEB2):c.227_233del (p.Gln76fs) variant DOID:0060485 Mowat-Wilson syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Mowat-Wilson syndrome 10041977 CV187171 NM_014795.4(ZEB2):c.73+1del variant DOID:0060485 Mowat-Wilson syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Mowat-Wilson syndrome PMID:25741868 10041978 CV187162 NM_014795.4(ZEB2):c.1416_1420del (p.Arg473fs) variant DOID:0060485 Mowat-Wilson syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Mowat-Wilson syndrome 10041979 CV187166 NM_014795.4(ZEB2):c.1027C>T (p.Arg343Ter) variant DOID:0060485 Mowat-Wilson syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mowat-Wilson syndrome PMID:12784289|PMID:15121779|PMID:16053902|PMID:17958891|PMID:19842203|PMID:24715670|PMID:25608121|PMID:25741868|PMID:28492532|PMID:31376723 10041979 CV187166 NM_014795.4(ZEB2):c.1027C>T (p.Arg343Ter) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12784289|PMID:15121779|PMID:16053902|PMID:17958891|PMID:19842203|PMID:24715670|PMID:25608121|PMID:25741868|PMID:28492532|PMID:31376723 10041980 CV187150 NM_014795.4(ZEB2):c.3391_3400del (p.Pro1131fs) variant DOID:0060485 Mowat-Wilson syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Mowat-Wilson syndrome 10041981 CV187169 NM_014795.4(ZEB2):c.460del (p.Glu154fs) variant DOID:0060485 Mowat-Wilson syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Mowat-Wilson syndrome 10041982 CV187148 NM_014795.3(ZEB2):c.3068-?_(*5076_?)del variant DOID:0060485 Mowat-Wilson syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Mowat-Wilson syndrome 10041983 CV187154 NM_014795.4(ZEB2):c.1966_1967del (p.Met656fs) variant DOID:0060485 Mowat-Wilson syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Mowat-Wilson syndrome 10041984 CV187159 NM_014795.4(ZEB2):c.1687del (p.Leu562_Ile563insTer) variant DOID:0060485 Mowat-Wilson syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Mowat-Wilson syndrome 10041985 CV187160 NM_014795.4(ZEB2):c.1653del (p.Ser552fs) variant DOID:0060485 Mowat-Wilson syndrome IAGP D RGD:8554872 20181009 ClinVar ClinVar Annotator: match by term: Mowat-Wilson syndrome PMID:25326635|PMID:25741868 10041986 CV187153 NM_014795.4(ZEB2):c.2177_2180del (p.Ser726fs) variant DOID:0060485 Mowat-Wilson syndrome IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Mowat-Wilson syndrome PMID:16053902|PMID:25741868|PMID:28492532|PMID:30083364|PMID:31178897|PMID:36406119 10041987 CV178417 NM_006766.5(KAT6A):c.3385C>T (p.Arg1129Ter) variant DOID:0070062 Arboleda-Tham syndrome IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: KAT6A syndrome PMID:17374998|PMID:25728775|PMID:25728777|PMID:25741868|PMID:28492532|PMID:30245513|PMID:32041641|PMID:38177409 10041987 CV178417 NM_006766.5(KAT6A):c.3385C>T (p.Arg1129Ter) variant DOID:630 genetic disease IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17374998|PMID:25728775|PMID:25728777|PMID:25741868|PMID:28492532|PMID:30245513|PMID:32041641|PMID:38177409 10041988 CV178418 NM_006766.5(KAT6A):c.3070C>T (p.Arg1024Ter) variant DOID:0070062 Arboleda-Tham syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Mental retardation, autosomal dominant 32 PMID:25728775|PMID:27133397 10041989 CV172292 NM_006766.5(KAT6A):c.3116_3117del (p.Ile1038_Ser1039insTer) variant DOID:0050888 syndromic intellectual disability IAGP D RGD:8554872 20180807 ClinVar ClinVar Annotator: match by term: Syndromic intellectual disability PMID:25728777 10041989 CV172292 NM_006766.5(KAT6A):c.3116_3117del (p.Ile1038_Ser1039insTer) variant DOID:0070062 Arboleda-Tham syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Mental retardation, autosomal dominant 32 PMID:25728777 10041989 CV172292 NM_006766.5(KAT6A):c.3116_3117del (p.Ile1038_Ser1039insTer) variant DOID:630 genetic disease IAGP D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25728777 10041990 CV171894 NM_006766.5(KAT6A):c.4108G>T (p.Glu1370Ter) variant DOID:0070062 Arboleda-Tham syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Mental retardation, autosomal dominant 32 PMID:25728777 10041991 CV186243 NM_000304.4(PMP22):c.308A>G (p.Gln103Arg) variant DOID:0050538 Charcot-Marie-Tooth disease type 1 IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:28492532 10041992 CV185952 NM_000530.8(MPZ):c.182A>G (p.Asp61Gly) variant DOID:0050538 Charcot-Marie-Tooth disease type 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:10764043|PMID:11484669|PMID:22451207|PMID:23290023|PMID:28492532 10041992 CV185952 NM_000530.8(MPZ):c.182A>G (p.Asp61Gly) variant DOID:10595 Charcot-Marie-Tooth disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10764043|PMID:11484669|PMID:22451207|PMID:23290023|PMID:28492532 10041993 CV186244 NM_000304.4(PMP22):c.185T>G (p.Leu62Arg) variant DOID:0050538 Charcot-Marie-Tooth disease type 1 IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:25741868|PMID:26392352|PMID:26467025|PMID:28492532 10041993 CV186244 NM_000304.4(PMP22):c.185T>G (p.Leu62Arg) variant DOID:12842 Guillain-Barre syndrome IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Guillain-Barre syndrome, familial PMID:25741868|PMID:26392352|PMID:26467025|PMID:28492532 10041994 CV185951 NM_000530.8(MPZ):c.314C>T (p.Pro105Leu) variant DOID:0050538 Charcot-Marie-Tooth disease type 1 IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:17663472|PMID:25741868|PMID:28492532|PMID:29465609 10041994 CV185951 NM_000530.8(MPZ):c.314C>T (p.Pro105Leu) variant DOID:10595 Charcot-Marie-Tooth disease IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:17663472|PMID:25741868|PMID:28492532|PMID:29465609 10041997 CV186976 NM_004937.3(CTNS):c.926dup (p.Ser310fs) variant DOID:1064 cystinosis IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephropathic cystinosis PMID:12204010|PMID:12442267|PMID:22664570|PMID:25741868|PMID:27533158|PMID:27734949|PMID:28492532|PMID:9792862 10041997 CV186976 NM_004937.3(CTNS):c.926dup (p.Ser310fs) variant DOID:9007952 Cystinosis, Ocular Nonnephropathic IAGP D RGD:8554872 20250729 ClinVar ClinVar Annotator: match by term: Ocular cystinosis PMID:12204010|PMID:12442267|PMID:22664570|PMID:25741868|PMID:27533158|PMID:27734949|PMID:28492532|PMID:9792862 10041999 CV186972 NM_004937.3(CTNS):c.292dup (p.Thr98fs) variant DOID:1064 cystinosis IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Nephropathic cystinosis PMID:12204010|PMID:25741868|PMID:27102039|PMID:28492532|PMID:9537412 10041999 CV186972 NM_004937.3(CTNS):c.292dup (p.Thr98fs) variant DOID:9007952 Cystinosis, Ocular Nonnephropathic IAGP D RGD:8554872 20250729 ClinVar ClinVar Annotator: match by term: Ocular cystinosis PMID:12204010|PMID:25741868|PMID:27102039|PMID:28492532|PMID:9537412 10042000 CV186791 NM_012203.2(GRHPR):c.337G>A (p.Glu113Lys) variant DOID:0111671 primary hyperoxaluria type 2 IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type II PMID:17510093|PMID:19296982|PMID:25644115|PMID:25741868|PMID:28492532|PMID:35149915 10042001 CV186969 NM_004937.3(CTNS):c.18_21del (p.Thr7fs) variant DOID:1064 cystinosis IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Cystinosin, defect of PMID:12204010|PMID:19863563|PMID:21786142|PMID:25741868|PMID:27102039|PMID:28276207|PMID:28492532|PMID:33532864|PMID:35738466|PMID:9537412|PMID:9792862 10042001 CV186969 NM_004937.3(CTNS):c.18_21del (p.Thr7fs) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12204010|PMID:19863563|PMID:21786142|PMID:25741868|PMID:27102039|PMID:28276207|PMID:28492532|PMID:33532864|PMID:35738466|PMID:9537412|PMID:9792862 10042001 CV186969 NM_004937.3(CTNS):c.18_21del (p.Thr7fs) variant DOID:9002476 Infantile Nephropathic Cystinosis IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Infantile nephropathic cystinosis PMID:12204010|PMID:19863563|PMID:21786142|PMID:25741868|PMID:27102039|PMID:28276207|PMID:28492532|PMID:33532864|PMID:35738466|PMID:9537412|PMID:9792862 10042001 CV186969 NM_004937.3(CTNS):c.18_21del (p.Thr7fs) variant DOID:9002714 Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE PMID:12204010|PMID:19863563|PMID:21786142|PMID:25741868|PMID:27102039|PMID:28276207|PMID:28492532|PMID:33532864|PMID:35738466|PMID:9537412|PMID:9792862 10042001 CV186969 NM_004937.3(CTNS):c.18_21del (p.Thr7fs) variant DOID:9004409 Abderhalden-Kaufmann-Lignac Syndrome IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Abderhalden Lignac Kaufmann disease PMID:12204010|PMID:19863563|PMID:21786142|PMID:25741868|PMID:27102039|PMID:28276207|PMID:28492532|PMID:33532864|PMID:35738466|PMID:9537412|PMID:9792862 10042001 CV186969 NM_004937.3(CTNS):c.18_21del (p.Thr7fs) variant DOID:9007952 Cystinosis, Ocular Nonnephropathic IAGP D RGD:8554872 20250729 ClinVar ClinVar Annotator: match by term: Ocular cystinosis PMID:12204010|PMID:19863563|PMID:21786142|PMID:25741868|PMID:27102039|PMID:28276207|PMID:28492532|PMID:33532864|PMID:35738466|PMID:9537412|PMID:9792862 10042003 CV186970 NM_004937.3(CTNS):c.199_219del (p.Ile67_Pro73del) variant DOID:1064 cystinosis IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Nephropathic cystinosis PMID:15128704|PMID:21305353|PMID:9792862 10042004 CV186975 NM_004937.3(CTNS):c.809_811del (p.Ser270del) variant DOID:1064 cystinosis IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Nephropathic cystinosis PMID:10556299|PMID:19580442|PMID:24464559|PMID:25741868|PMID:29127259 10042004 CV186975 NM_004937.3(CTNS):c.809_811del (p.Ser270del) variant DOID:1184 nephrotic syndrome IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:10556299|PMID:19580442|PMID:24464559|PMID:25741868|PMID:29127259 10042005 CV186973 NM_004937.3(CTNS):c.561+1del variant DOID:1064 cystinosis IAGP D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Nephropathic cystinosis PMID:10571941|PMID:25741868|PMID:27102039|PMID:28122645|PMID:28238446|PMID:28492532|PMID:30554218|PMID:9537412|PMID:9792862 10042005 CV186973 NM_004937.3(CTNS):c.561+1del variant DOID:9007952 Cystinosis, Ocular Nonnephropathic IAGP D RGD:8554872 20250729 ClinVar ClinVar Annotator: match by term: Ocular cystinosis PMID:10571941|PMID:25741868|PMID:27102039|PMID:28122645|PMID:28238446|PMID:28492532|PMID:30554218|PMID:9537412|PMID:9792862 10042006 CV186968 NM_080704.4(TRPV1):c.-34+7395T>C variant DOID:1064 cystinosis IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Nephropathic cystinosis PMID:21546516 10042008 CV187145 NM_015270.5(ADCY6):c.3346C>T (p.Arg1116Cys) variant DOID:9002593 Lethal Congenital Contracture Syndrome 8 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Lethal congenital contracture syndrome 8 PMID:24319099 10042009 CV187146 NM_003632.3(CNTNAP1):c.3009dup (p.Glu1004Ter) variant DOID:9000854 Lethal Congenital Contracture Syndrome 7 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Lethal congenital contracture syndrome 7 PMID:24319099 10042010 CV187176 NM_000894.3(LHB):c.183+1G>C variant DOID:0090091 hypogonadotropic hypogonadism 23 with or without anosmia IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: PASQUALINI SYNDROME PMID:17761593 10042011 CV187177 NM_000894.3(LHB):c.88_96del (p.His30_Ile32del) variant DOID:0090091 hypogonadotropic hypogonadism 23 with or without anosmia IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: PASQUALINI SYNDROME PMID:19890128 10042012 CV187178 NM_000894.3(LHB):c.28_39del (p.Leu10_Leu13del) variant DOID:0090091 hypogonadotropic hypogonadism 23 with or without anosmia IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: PASQUALINI SYNDROME PMID:22723313 10042013 CV187179 NM_000894.3(LHB):c.183+1G>T variant DOID:0090091 hypogonadotropic hypogonadism 23 with or without anosmia IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: PASQUALINI SYNDROME PMID:22723313 10042014 CV187134 NM_021956.5(GRIK2):c.592C>T (p.Arg198Ter) variant DOID:0081182 autosomal recessive intellectual developmental disorder 6 IAGP D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 6 PMID:25039795 10042015 CV187198 NM_001098.3(ACO2):c.220C>G (p.Leu74Val) variant DOID:0050883 infantile cerebellar-retinal degeneration IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Infantile cerebellar-retinal degeneration PMID:25351951|PMID:25741868|PMID:28492532|PMID:30118607|PMID:32449285|PMID:34056600|PMID:34234304|PMID:34426522 10042015 CV187198 NM_001098.3(ACO2):c.220C>G (p.Leu74Val) variant DOID:0111442 optic atrophy 9 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Optic atrophy 9 PMID:25351951|PMID:25741868|PMID:28492532|PMID:30118607|PMID:32449285|PMID:34056600|PMID:34234304|PMID:34426522 10042015 CV187198 NM_001098.3(ACO2):c.220C>G (p.Leu74Val) variant DOID:5723 optic atrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:25351951|PMID:25741868|PMID:28492532|PMID:30118607|PMID:32449285|PMID:34056600|PMID:34234304|PMID:34426522 10042015 CV187198 NM_001098.3(ACO2):c.220C>G (p.Leu74Val) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25351951|PMID:25741868|PMID:28492532|PMID:30118607|PMID:32449285|PMID:34056600|PMID:34234304|PMID:34426522 10042016 CV187199 NM_001098.3(ACO2):c.1981G>A (p.Gly661Arg) variant DOID:0111442 optic atrophy 9 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: OPTIC ATROPHY 9, AUTOSOMAL RECESSIVE PMID:25351951|PMID:25741868|PMID:28492532|PMID:34056600 10042016 CV187199 NM_001098.3(ACO2):c.1981G>A (p.Gly661Arg) variant DOID:5723 optic atrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:25351951|PMID:25741868|PMID:28492532|PMID:34056600 10042017 CV187200 NM_001098.3(ACO2):c.776G>A (p.Gly259Asp) variant DOID:0050883 infantile cerebellar-retinal degeneration IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Infantile cerebellar-retinal degeneration PMID:25351951 10042018 CV187201 NM_001098.3(ACO2):c.2208G>C (p.Lys736Asn) variant DOID:0050883 infantile cerebellar-retinal degeneration IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Infantile cerebellar-retinal degeneration PMID:25351951 10042019 CV187202 NM_001098.3(ACO2):c.2328_2331del (p.Lys776fs) variant DOID:0050883 infantile cerebellar-retinal degeneration IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Infantile cerebellar-retinal degeneration PMID:25351951|PMID:25741868|PMID:2854533 10042019 CV187202 NM_001098.3(ACO2):c.2328_2331del (p.Lys776fs) variant DOID:5723 optic atrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:25351951|PMID:25741868|PMID:2854533 10042020 CV187203 NM_003047.5(SLC9A1):c.913G>A (p.Gly305Arg) variant DOID:0080065 autosomal recessive spinocerebellar ataxia 19 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Lichtenstein-knorr syndrome PMID:25205112 10042021 CV187204 NM_002223.4(ITPR2):c.7492G>A (p.Gly2498Ser) variant DOID:0060603 isolated anhidrosis with normal sweat glands IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Anhidrosis, isolated, with normal sweat glands PMID:25329695 10042023 CV187219 NM_001146079.2(CLDN14):c.242G>A (p.Arg81His) variant DOID:0110487 autosomal recessive nonsyndromic deafness 29 IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 29 PMID:22246673|PMID:23235333|PMID:25741868|PMID:28492532|PMID:30311386 10042023 CV187219 NM_001146079.2(CLDN14):c.242G>A (p.Arg81His) variant DOID:9004538 Hearing Loss IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:22246673|PMID:23235333|PMID:25741868|PMID:28492532|PMID:30311386 10042024 CV187220 NM_001146079.2(CLDN14):c.167G>A (p.Trp56Ter) variant DOID:0110487 autosomal recessive nonsyndromic deafness 29 IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 29 PMID:22246673|PMID:25741868 10042025 CV187221 NM_001146079.2(CLDN14):c.694G>A (p.Gly232Arg) variant DOID:0110487 autosomal recessive nonsyndromic deafness 29 IAGP D RGD:8554872 20250723 ClinVar ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 29 PMID:22246673 10042026 CV187226 NM_000918.4(P4HB):c.1178A>G (p.Tyr393Cys) variant DOID:9009043 Cole-Carpenter Syndrome 1 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cole-Carpenter syndrome 1 PMID:25683117|PMID:28492532|PMID:29263160|PMID:30063094 10042027 CV187227 NM_022168.4(IFIH1):c.2465G>A (p.Arg822Gln) variant DOID:630 genetic disease IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21070929|PMID:25620204|PMID:25741868|PMID:28319323|PMID:28475458|PMID:28492532|PMID:35410415|PMID:35754802|PMID:36426976 10042027 CV187227 NM_022168.4(IFIH1):c.2465G>A (p.Arg822Gln) variant DOID:9002571 Aicardi-Goutieres Syndrome 7 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 7 PMID:21070929|PMID:25620204|PMID:25741868|PMID:28319323|PMID:28475458|PMID:28492532|PMID:35410415|PMID:35754802|PMID:36426976 10042027 CV187227 NM_022168.4(IFIH1):c.2465G>A (p.Arg822Gln) variant DOID:9003885 Singleton-Merten Syndrome 1 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Singleton-Merten syndrome 1 PMID:21070929|PMID:25620204|PMID:25741868|PMID:28319323|PMID:28475458|PMID:28492532|PMID:35410415|PMID:35754802|PMID:36426976 10042028 CV187228 NM_014822.4(SEC24D):c.3044C>T (p.Ser1015Phe) variant DOID:9004736 Cole-Carpenter Syndrome 2 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Cole-Carpenter syndrome 2 PMID:25683121|PMID:25741868|PMID:28492532 10042029 CV187229 NM_014822.4(SEC24D):c.613C>T (p.Gln205Ter) variant DOID:9004736 Cole-Carpenter Syndrome 2 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Cole-carpenter syndrome 2 PMID:25683121 10042030 CV187230 NM_014822.4(SEC24D):c.2933A>C (p.Gln978Pro) variant DOID:9004736 Cole-Carpenter Syndrome 2 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Cole-carpenter syndrome 2 PMID:25683121 10042031 CV187233 NM_014314.4(RIGI):c.1118A>C (p.Glu373Ala) variant DOID:9002133 Singleton-Merten Syndrome 2 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Singleton-Merten syndrome 2 PMID:25620203 10042032 CV187254 NM_004990.4(MARS1):c.1814A>T (p.Asp605Val) variant DOID:12120 pulmonary alveolar proteinosis IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Pulmonary alveolar proteinosis PMID:25913036 10042032 CV187254 NM_004990.4(MARS1):c.1814A>T (p.Asp605Val) variant DOID:9002394 INTERSTITIAL LUNG AND LIVER DISEASE IAGP D RGD:8554872 20181113 ClinVar ClinVar Annotator: match by term: Interstitial lung and liver disease PMID:25913036 10042033 CV187234 NM_014314.4(RIGI):c.803G>T (p.Cys268Phe) variant DOID:9002133 Singleton-Merten Syndrome 2 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Singleton-Merten syndrome 2 PMID:25620203 10042034 CV185943 NM_001363118.2(SLC52A2):c.808C>T (p.Gln270Ter) variant DOID:0080785 Brown-Vialetto-Van Laere syndrome 1 IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 PMID:24253200|PMID:25741868|PMID:27148561|PMID:28492532 10042034 CV185943 NM_001363118.2(SLC52A2):c.808C>T (p.Gln270Ter) variant DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 PMID:24253200|PMID:25741868|PMID:27148561|PMID:28492532 10042035 CV186282 NM_005359.6(SMAD4):c.1448G>A (p.Ser483Asn) variant DOID:0050787 juvenile polyposis syndrome IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Juvenile polyposis syndrome PMID:28492532 10042035 CV186282 NM_005359.6(SMAD4):c.1448G>A (p.Ser483Asn) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:28492532 10042035 CV186282 NM_005359.6(SMAD4):c.1448G>A (p.Ser483Asn) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:28492532 10042036 CV186056 NM_138694.4(PKHD1):c.3890C>T (p.Ala1297Val) variant DOID:0080212 polycystic kidney disease 4 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease 4 PMID:25741868|PMID:28492532 10042036 CV186056 NM_138694.4(PKHD1):c.3890C>T (p.Ala1297Val) variant DOID:0110861 autosomal recessive polycystic kidney disease IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease PMID:25741868|PMID:28492532 10042037 CV186281 NM_005359.6(SMAD4):c.1354_1381dup (p.Gln461fs) variant DOID:0050787 juvenile polyposis syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Juvenile polyposis syndrome PMID:22810475|PMID:23239472|PMID:28492532 10042038 CV186120 NM_004329.3(BMPR1A):c.66A>C (p.Gln22His) variant DOID:0050787 juvenile polyposis syndrome IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Juvenile polyposis syndrome PMID:25741868|PMID:26467025|PMID:28492532 10042038 CV186120 NM_004329.3(BMPR1A):c.66A>C (p.Gln22His) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:26467025|PMID:28492532 10042039 CV186279 NM_005359.6(SMAD4):c.172A>G (p.Ile58Val) variant DOID:0050787 juvenile polyposis syndrome IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Juvenile polyposis syndrome PMID:25186627|PMID:25741868|PMID:26467025|PMID:28492532 10042039 CV186279 NM_005359.6(SMAD4):c.172A>G (p.Ile58Val) variant DOID:0111543 juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome PMID:25186627|PMID:25741868|PMID:26467025|PMID:28492532 10042039 CV186279 NM_005359.6(SMAD4):c.172A>G (p.Ile58Val) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25186627|PMID:25741868|PMID:26467025|PMID:28492532 10042039 CV186279 NM_005359.6(SMAD4):c.172A>G (p.Ile58Val) variant DOID:4905 pancreatic carcinoma IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: PANCREATIC CARCINOMA PMID:25186627|PMID:25741868|PMID:26467025|PMID:28492532 10042039 CV186279 NM_005359.6(SMAD4):c.172A>G (p.Ile58Val) variant DOID:9000838 Growth Mental Deficiency Syndrome of Myhre IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Myhre syndrome PMID:25186627|PMID:25741868|PMID:26467025|PMID:28492532 10042039 CV186279 NM_005359.6(SMAD4):c.172A>G (p.Ile58Val) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25186627|PMID:25741868|PMID:26467025|PMID:28492532 10042040 CV186122 NM_004329.3(BMPR1A):c.499A>G (p.Met167Val) variant DOID:0050787 juvenile polyposis syndrome IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Juvenile polyposis syndrome PMID:25186627|PMID:25741868|PMID:25980754|PMID:26467025|PMID:27153395|PMID:28135145|PMID:28492532|PMID:30426508|PMID:31159747 10042040 CV186122 NM_004329.3(BMPR1A):c.499A>G (p.Met167Val) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25186627|PMID:25741868|PMID:25980754|PMID:26467025|PMID:27153395|PMID:28135145|PMID:28492532|PMID:30426508|PMID:31159747 10042041 CV186121 NM_004329.3(BMPR1A):c.247_251del (p.Phe83fs) variant DOID:0050787 juvenile polyposis syndrome IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Juvenile polyposis syndrome PMID:11536076|PMID:12417513|PMID:28492532 10042042 CV186280 NM_005359.6(SMAD4):c.521C>A (p.Thr174Asn) variant DOID:0050787 juvenile polyposis syndrome IAGP D RGD:8554872 20180306 ClinVar ClinVar Annotator: match by term: Juvenile polyposis syndrome PMID:25741868|PMID:28492532 10042042 CV186280 NM_005359.6(SMAD4):c.521C>A (p.Thr174Asn) variant DOID:0111543 juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome PMID:25741868|PMID:28492532 10042042 CV186280 NM_005359.6(SMAD4):c.521C>A (p.Thr174Asn) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10042042 CV186280 NM_005359.6(SMAD4):c.521C>A (p.Thr174Asn) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20180306 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532 10042043 CV186123 NM_004329.3(BMPR1A):c.1245A>C (p.Glu415Asp) variant DOID:0050787 juvenile polyposis syndrome IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Juvenile polyposis syndrome PMID:23399955|PMID:25741868|PMID:28492532 10042043 CV186123 NM_004329.3(BMPR1A):c.1245A>C (p.Glu415Asp) variant DOID:0111686 hereditary mixed polyposis syndrome 2 IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Polyposis syndrome, hereditary mixed, 2 PMID:23399955|PMID:25741868|PMID:28492532 10042043 CV186123 NM_004329.3(BMPR1A):c.1245A>C (p.Glu415Asp) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:23399955|PMID:25741868|PMID:28492532 10042044 CV186054 NM_138694.4(PKHD1):c.8303-1G>A variant DOID:0110861 autosomal recessive polycystic kidney disease IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease PMID:28492532 10042045 CV186055 NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) variant DOID:0050770 polycystic liver disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver PMID:1189128|PMID:11898128|PMID:12874454|PMID:15805161|PMID:16133180|PMID:19914852|PMID:20413436|PMID:25701400|PMID:25741868|PMID:26695994|PMID:27151922|PMID:27225849|PMID:27894351|PMID:28492532|PMID:29068549|PMID:31130284|PMID:31844813|PMID:31980526|PMID:32398770|PMID:32571524|PMID:32574212|PMID:32799815 10042045 CV186055 NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) variant DOID:0050876 Caroli disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Caroli disease PMID:1189128|PMID:11898128|PMID:12874454|PMID:15805161|PMID:16133180|PMID:19914852|PMID:20413436|PMID:25701400|PMID:25741868|PMID:26695994|PMID:27151922|PMID:27225849|PMID:27894351|PMID:28492532|PMID:29068549|PMID:31130284|PMID:31844813|PMID:31980526|PMID:32398770|PMID:32571524|PMID:32574212|PMID:32799815 10042045 CV186055 NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) variant DOID:0080212 polycystic kidney disease 4 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease 4 PMID:1189128|PMID:11898128|PMID:12874454|PMID:15805161|PMID:16133180|PMID:19914852|PMID:20413436|PMID:25701400|PMID:25741868|PMID:26695994|PMID:27151922|PMID:27225849|PMID:27894351|PMID:28492532|PMID:29068549|PMID:31130284|PMID:31844813|PMID:31980526|PMID:32398770|PMID:32571524|PMID:32574212|PMID:32799815 10042045 CV186055 NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) variant DOID:0080322 polycystic kidney disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease PMID:1189128|PMID:11898128|PMID:12874454|PMID:15805161|PMID:16133180|PMID:19914852|PMID:20413436|PMID:25701400|PMID:25741868|PMID:26695994|PMID:27151922|PMID:27225849|PMID:27894351|PMID:28492532|PMID:29068549|PMID:31130284|PMID:31844813|PMID:31980526|PMID:32398770|PMID:32571524|PMID:32574212|PMID:32799815 10042045 CV186055 NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) variant DOID:0110860 polycystic kidney disease 3 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: PKD3 PMID:1189128|PMID:11898128|PMID:12874454|PMID:15805161|PMID:16133180|PMID:19914852|PMID:20413436|PMID:25701400|PMID:25741868|PMID:26695994|PMID:27151922|PMID:27225849|PMID:27894351|PMID:28492532|PMID:29068549|PMID:31130284|PMID:31844813|PMID:31980526|PMID:32398770|PMID:32571524|PMID:32574212|PMID:32799815 10042045 CV186055 NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) variant DOID:0110861 autosomal recessive polycystic kidney disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease PMID:1189128|PMID:11898128|PMID:12874454|PMID:15805161|PMID:16133180|PMID:19914852|PMID:20413436|PMID:25701400|PMID:25741868|PMID:26695994|PMID:27151922|PMID:27225849|PMID:27894351|PMID:28492532|PMID:29068549|PMID:31130284|PMID:31844813|PMID:31980526|PMID:32398770|PMID:32571524|PMID:32574212|PMID:32799815 10042045 CV186055 NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) variant DOID:898 autosomal dominant polycystic kidney disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1 PMID:1189128|PMID:11898128|PMID:12874454|PMID:15805161|PMID:16133180|PMID:19914852|PMID:20413436|PMID:25701400|PMID:25741868|PMID:26695994|PMID:27151922|PMID:27225849|PMID:27894351|PMID:28492532|PMID:29068549|PMID:31130284|PMID:31844813|PMID:31980526|PMID:32398770|PMID:32571524|PMID:32574212|PMID:32799815 10042046 CV186550 NM_007294.4(BRCA1):c.885_886del (p.Asp295fs) variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 PMID:20104584|PMID:28492532 10042048 CV186548 NM_007294.4(BRCA1):c.984_988del (p.Cys328_Asp330delinsTer) variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 PMID:20104584|PMID:26848529|PMID:28492532|PMID:29263802 10042049 CV186546 NM_007294.4(BRCA1):c.2298dup (p.Ser767Ter) variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome 10042051 CV186541 NM_007294.3(BRCA1):c.4358_4484del variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 PMID:16793929|PMID:20232141|PMID:22544547|PMID:26467025 10042052 CV186542 NM_007294.4(BRCA1):c.4386dup (p.Tyr1463fs) variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:26467025 10042052 CV186542 NM_007294.4(BRCA1):c.4386dup (p.Tyr1463fs) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:26467025 10042054 CV186441 NM_000059.4(BRCA2):c.774_775del (p.Glu260fs) variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:20104584|PMID:25452441|PMID:25741868|PMID:26187060|PMID:26467025|PMID:27907908|PMID:28492532|PMID:28993434 10042054 CV186441 NM_000059.4(BRCA2):c.774_775del (p.Glu260fs) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:20104584|PMID:25452441|PMID:25741868|PMID:26187060|PMID:26467025|PMID:27907908|PMID:28492532|PMID:28993434 10042054 CV186441 NM_000059.4(BRCA2):c.774_775del (p.Glu260fs) variant DOID:9008952 Breast Cancer, Familial IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:20104584|PMID:25452441|PMID:25741868|PMID:26187060|PMID:26467025|PMID:27907908|PMID:28492532|PMID:28993434 10042055 CV186450 NM_000059.4(BRCA2):c.6174del (p.Phe2058fs) variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 10042056 CV186451 NM_000059.4(BRCA2):c.6777_6778del (p.Asn2259fs) variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:20104584|PMID:21520333|PMID:25741868|PMID:28492532 10042056 CV186451 NM_000059.4(BRCA2):c.6777_6778del (p.Asn2259fs) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:20104584|PMID:21520333|PMID:25741868|PMID:28492532 10042056 CV186451 NM_000059.4(BRCA2):c.6777_6778del (p.Asn2259fs) variant DOID:9008952 Breast Cancer, Familial IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:20104584|PMID:21520333|PMID:25741868|PMID:28492532 10042057 CV186452 NM_000059.4(BRCA2):c.7008-1G>A variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16199547|PMID:16843109|PMID:20104584|PMID:25741868|PMID:26833046|PMID:28492532|PMID:29446198|PMID:31131967|PMID:31191615|PMID:32073954|PMID:33471991 10042057 CV186452 NM_000059.4(BRCA2):c.7008-1G>A variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:16199547|PMID:16843109|PMID:20104584|PMID:25741868|PMID:26833046|PMID:28492532|PMID:29446198|PMID:31131967|PMID:31191615|PMID:32073954|PMID:33471991 10042058 CV186453 NM_000059.4(BRCA2):c.7340dup (p.Asn2447fs) variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 PMID:20104584|PMID:28492532|PMID:36537080 10042059 CV186456 NM_000059.4(BRCA2):c.9281C>G (p.Ser3094Ter) variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome PMID:25741868 10042059 CV186456 NM_000059.4(BRCA2):c.9281C>G (p.Ser3094Ter) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868 10042060 CV186716 NM_138694.4(PKHD1):c.1877A>G (p.Lys626Arg) variant DOID:0080322 polycystic kidney disease IAGP D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease PMID:21790888|PMID:28492532 10042060 CV186716 NM_138694.4(PKHD1):c.1877A>G (p.Lys626Arg) variant DOID:0110861 autosomal recessive polycystic kidney disease IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT HEPATIC DISEASE PMID:21790888|PMID:28492532 10042061 CV186708 NM_138694.4(PKHD1):c.8521A>G (p.Met2841Val) variant DOID:0080322 polycystic kidney disease IAGP D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease PMID:15805161|PMID:16133180|PMID:24033266|PMID:28492532 10042061 CV186708 NM_138694.4(PKHD1):c.8521A>G (p.Met2841Val) variant DOID:0110861 autosomal recessive polycystic kidney disease IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT HEPATIC DISEASE PMID:15805161|PMID:16133180|PMID:24033266|PMID:28492532 10042062 CV186711 NM_138694.4(PKHD1):c.3766del (p.Gln1256fs) variant DOID:0050770 polycystic liver disease IAGP D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: Polycystic liver disease PMID:19914852|PMID:25741868|PMID:28375157 10042062 CV186711 NM_138694.4(PKHD1):c.3766del (p.Gln1256fs) variant DOID:0080212 polycystic kidney disease 4 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease 4 PMID:19914852|PMID:25741868|PMID:28375157 10042062 CV186711 NM_138694.4(PKHD1):c.3766del (p.Gln1256fs) variant DOID:0110860 polycystic kidney disease 3 IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: PKD3 PMID:19914852|PMID:25741868|PMID:28375157 10042062 CV186711 NM_138694.4(PKHD1):c.3766del (p.Gln1256fs) variant DOID:0110861 autosomal recessive polycystic kidney disease IAGP D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE, INFANTILE, TYPE I PMID:19914852|PMID:25741868|PMID:28375157 10042062 CV186711 NM_138694.4(PKHD1):c.3766del (p.Gln1256fs) variant DOID:898 autosomal dominant polycystic kidney disease IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1 PMID:19914852|PMID:25741868|PMID:28375157 10042063 CV186704 NM_138694.4(PKHD1):c.11524C>T (p.Arg3842Ter) variant DOID:0080212 polycystic kidney disease 4 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease 4 PMID:15805161|PMID:19940839|PMID:25741868|PMID:28492532 10042063 CV186704 NM_138694.4(PKHD1):c.11524C>T (p.Arg3842Ter) variant DOID:0110861 autosomal recessive polycystic kidney disease IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease PMID:15805161|PMID:19940839|PMID:25741868|PMID:28492532 10042064 CV186918 NM_000153.4(GALC):c.955del (p.Tyr319fs) variant DOID:10587 Krabbe disease IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency PMID:16607461|PMID:16759875|PMID:17579360|PMID:21070211|PMID:25741868|PMID:26795590|PMID:27638593|PMID:28492532|PMID:7437911|PMID:9272171|PMID:9338580 10042065 CV186710 NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys) variant DOID:0080212 polycystic kidney disease 4 IAGP D RGD:8554872 20211109 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease 4 PMID:11919560|PMID:12506140|PMID:12846734|PMID:12874454|PMID:15108277|PMID:15698423|PMID:15706593|PMID:15805161|PMID:16523049|PMID:19914852|PMID:20413436|PMID:25741868|PMID:26673778|PMID:28492532|PMID:33532864|PMID:34008892 10042065 CV186710 NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys) variant DOID:0080322 polycystic kidney disease IAGP D RGD:8554872 20211109 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease PMID:11919560|PMID:12506140|PMID:12846734|PMID:12874454|PMID:15108277|PMID:15698423|PMID:15706593|PMID:15805161|PMID:16523049|PMID:19914852|PMID:20413436|PMID:25741868|PMID:26673778|PMID:28492532|PMID:33532864|PMID:34008892 10042065 CV186710 NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys) variant DOID:0110860 polycystic kidney disease 3 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: PKD3 PMID:11919560|PMID:12506140|PMID:12846734|PMID:12874454|PMID:15108277|PMID:15698423|PMID:15706593|PMID:15805161|PMID:16523049|PMID:19914852|PMID:20413436|PMID:25741868|PMID:26673778|PMID:28492532|PMID:33532864|PMID:34008892 10042065 CV186710 NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys) variant DOID:0110861 autosomal recessive polycystic kidney disease IAGP D RGD:8554872 20211109 ClinVar ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease PMID:11919560|PMID:12506140|PMID:12846734|PMID:12874454|PMID:15108277|PMID:15698423|PMID:15706593|PMID:15805161|PMID:16523049|PMID:19914852|PMID:20413436|PMID:25741868|PMID:26673778|PMID:28492532|PMID:33532864|PMID:34008892 10042065 CV186710 NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys) variant DOID:898 autosomal dominant polycystic kidney disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1 PMID:11919560|PMID:12506140|PMID:12846734|PMID:12874454|PMID:15108277|PMID:15698423|PMID:15706593|PMID:15805161|PMID:16523049|PMID:19914852|PMID:20413436|PMID:25741868|PMID:26673778|PMID:28492532|PMID:33532864|PMID:34008892 10042066 CV186919 NM_000153.4(GALC):c.908+1G>A variant DOID:10587 Krabbe disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency PMID:16199547|PMID:16607461|PMID:22115770|PMID:22520351|PMID:25741868|PMID:26795590|PMID:28492532|PMID:28547031|PMID:7437911|PMID:9272171 10042066 CV186919 NM_000153.4(GALC):c.908+1G>A variant DOID:9006534 Nervous System Malformations IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:16199547|PMID:16607461|PMID:22115770|PMID:22520351|PMID:25741868|PMID:26795590|PMID:28492532|PMID:28547031|PMID:7437911|PMID:9272171 10042067 CV186923 NM_000153.4(GALC):c.388G>A (p.Glu130Lys) variant DOID:10587 Krabbe disease IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency PMID:17579360|PMID:20886637|PMID:21070211|PMID:21876145|PMID:23620143|PMID:27638593|PMID:28492532|PMID:32089546 10042068 CV186917 NM_000153.4(GALC):c.1472del (p.Lys491fs) variant DOID:10587 Krabbe disease IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency PMID:16607461|PMID:19302934|PMID:26795590|PMID:27638593|PMID:28492532|PMID:30777126|PMID:7437911|PMID:9272171|PMID:9338580 10042069 CV186922 NM_000153.4(GALC):c.489G>A (p.Trp163Ter) variant DOID:10587 Krabbe disease IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency PMID:16607461|PMID:22115770|PMID:25741868|PMID:28492532|PMID:30777126|PMID:7437911|PMID:9272171 10042070 CV186714 NM_138694.4(PKHD1):c.2279G>A (p.Arg760His) variant DOID:0080212 polycystic kidney disease 4 IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease 4 PMID:11898128|PMID:15698423|PMID:15805161|PMID:17576681|PMID:19914852|PMID:20413436|PMID:24984783|PMID:25741868|PMID:28492532|PMID:33532864|PMID:9536098 10042070 CV186714 NM_138694.4(PKHD1):c.2279G>A (p.Arg760His) variant DOID:0110860 polycystic kidney disease 3 IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: PKD3 PMID:11898128|PMID:15698423|PMID:15805161|PMID:17576681|PMID:19914852|PMID:20413436|PMID:24984783|PMID:25741868|PMID:28492532|PMID:33532864|PMID:9536098 10042070 CV186714 NM_138694.4(PKHD1):c.2279G>A (p.Arg760His) variant DOID:0110861 autosomal recessive polycystic kidney disease IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease PMID:11898128|PMID:15698423|PMID:15805161|PMID:17576681|PMID:19914852|PMID:20413436|PMID:24984783|PMID:25741868|PMID:28492532|PMID:33532864|PMID:9536098 10042070 CV186714 NM_138694.4(PKHD1):c.2279G>A (p.Arg760His) variant DOID:898 autosomal dominant polycystic kidney disease IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1 PMID:11898128|PMID:15698423|PMID:15805161|PMID:17576681|PMID:19914852|PMID:20413436|PMID:24984783|PMID:25741868|PMID:28492532|PMID:33532864|PMID:9536098 10042071 CV186706 NM_138694.4(PKHD1):c.10444C>T (p.Arg3482Cys) variant DOID:0080212 polycystic kidney disease 4 IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease 4 PMID:12506140|PMID:15108281|PMID:15805161|PMID:18414213|PMID:19940839|PMID:25114813|PMID:25741868|PMID:26385851|PMID:26721323|PMID:28492532 10042071 CV186706 NM_138694.4(PKHD1):c.10444C>T (p.Arg3482Cys) variant DOID:0110860 polycystic kidney disease 3 IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: PKD3 PMID:12506140|PMID:15108281|PMID:15805161|PMID:18414213|PMID:19940839|PMID:25114813|PMID:25741868|PMID:26385851|PMID:26721323|PMID:28492532 10042071 CV186706 NM_138694.4(PKHD1):c.10444C>T (p.Arg3482Cys) variant DOID:0110861 autosomal recessive polycystic kidney disease IAGP D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE, INFANTILE, TYPE I PMID:12506140|PMID:15108281|PMID:15805161|PMID:18414213|PMID:19940839|PMID:25114813|PMID:25741868|PMID:26385851|PMID:26721323|PMID:28492532 10042071 CV186706 NM_138694.4(PKHD1):c.10444C>T (p.Arg3482Cys) variant DOID:898 autosomal dominant polycystic kidney disease IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1 PMID:12506140|PMID:15108281|PMID:15805161|PMID:18414213|PMID:19940839|PMID:25114813|PMID:25741868|PMID:26385851|PMID:26721323|PMID:28492532 10042072 CV186712 NM_138694.4(PKHD1):c.3367G>A (p.Gly1123Ser) variant DOID:0080212 polycystic kidney disease 4 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease 4 PMID:12506140|PMID:12874454|PMID:14741187|PMID:15698423|PMID:15706593|PMID:15805161|PMID:24984783|PMID:25741868|PMID:25966130|PMID:28492532 10042072 CV186712 NM_138694.4(PKHD1):c.3367G>A (p.Gly1123Ser) variant DOID:0110861 autosomal recessive polycystic kidney disease IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease PMID:12506140|PMID:12874454|PMID:14741187|PMID:15698423|PMID:15706593|PMID:15805161|PMID:24984783|PMID:25741868|PMID:25966130|PMID:28492532 10042073 CV186720 NM_138694.4(PKHD1):c.711_714del (p.Met238fs) variant DOID:0080212 polycystic kidney disease 4 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease 4 PMID:11898128|PMID:15805161|PMID:19940839|PMID:25741868|PMID:28492532 10042073 CV186720 NM_138694.4(PKHD1):c.711_714del (p.Met238fs) variant DOID:0110861 autosomal recessive polycystic kidney disease IAGP D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE, INFANTILE, TYPE I PMID:11898128|PMID:15805161|PMID:19940839|PMID:25741868|PMID:28492532 10042074 CV186914 NM_000153.4(GALC):c.1700A>C (p.Tyr567Ser) variant DOID:10587 Krabbe disease IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency PMID:20301416|PMID:20886637|PMID:21824559|PMID:21876145|PMID:22115770|PMID:22520351|PMID:24252386|PMID:25741868|PMID:26865610|PMID:27126738|PMID:27638583|PMID:27638593|PMID:28492532|PMID:30777126|PMID:31240153|PMID:32089546|PMID:34071213|PMID:9338580 10042074 CV186914 NM_000153.4(GALC):c.1700A>C (p.Tyr567Ser) variant DOID:630 genetic disease IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20301416|PMID:20886637|PMID:21824559|PMID:21876145|PMID:22115770|PMID:22520351|PMID:24252386|PMID:25741868|PMID:26865610|PMID:27126738|PMID:27638583|PMID:27638593|PMID:28492532|PMID:30777126|PMID:31240153|PMID:32089546|PMID:34071213|PMID:9338580 10042075 CV186916 NM_000153.4(GALC):c.1591C>T (p.Arg531Cys) variant DOID:10587 Krabbe disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency PMID:10234611|PMID:16607461|PMID:17824908|PMID:21824559|PMID:21876145|PMID:22520351|PMID:23197103|PMID:25741868|PMID:26795590|PMID:27126738|PMID:27638593|PMID:28492532|PMID:28976722|PMID:30777126|PMID:9338580 10042076 CV186921 NM_000153.4(GALC):c.599C>A (p.Ser200Ter) variant DOID:10587 Krabbe disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency PMID:16607461|PMID:23462331|PMID:28492532|PMID:7437911|PMID:9272171 10042077 CV186920 NM_000153.4(GALC):c.658C>T (p.Arg220Ter) variant DOID:10587 Krabbe disease IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency PMID:16607461|PMID:24252386|PMID:25741868|PMID:28492532|PMID:7437911|PMID:9272171 10042078 CV186718 NM_138694.4(PKHD1):c.1480C>T (p.Arg494Ter) variant DOID:0080212 polycystic kidney disease 4 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease 4 PMID:15108281|PMID:16523049|PMID:19940839|PMID:25741868|PMID:28492532 10042078 CV186718 NM_138694.4(PKHD1):c.1480C>T (p.Arg494Ter) variant DOID:0110861 autosomal recessive polycystic kidney disease IAGP D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease PMID:15108281|PMID:16523049|PMID:19940839|PMID:25741868|PMID:28492532 10042079 CV186705 NM_138694.4(PKHD1):c.10452dup (p.Leu3485fs) variant DOID:0080212 polycystic kidney disease 4 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease 4 PMID:15108277|PMID:15108281|PMID:19914852|PMID:19940839|PMID:25741868|PMID:28492532|PMID:30655312|PMID:32576985 10042079 CV186705 NM_138694.4(PKHD1):c.10452dup (p.Leu3485fs) variant DOID:0110861 autosomal recessive polycystic kidney disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease PMID:15108277|PMID:15108281|PMID:19914852|PMID:19940839|PMID:25741868|PMID:28492532|PMID:30655312|PMID:32576985 10042080 CV186707 NM_138694.4(PKHD1):c.9319C>T (p.Arg3107Ter) variant DOID:0080212 polycystic kidney disease 4 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease 4 PMID:12506140|PMID:15108281|PMID:19940839|PMID:23389334|PMID:25741868|PMID:28492532|PMID:31010483|PMID:34536170 10042080 CV186707 NM_138694.4(PKHD1):c.9319C>T (p.Arg3107Ter) variant DOID:0110860 polycystic kidney disease 3 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: PKD3 PMID:12506140|PMID:15108281|PMID:19940839|PMID:23389334|PMID:25741868|PMID:28492532|PMID:31010483|PMID:34536170 10042080 CV186707 NM_138694.4(PKHD1):c.9319C>T (p.Arg3107Ter) variant DOID:0110861 autosomal recessive polycystic kidney disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease PMID:12506140|PMID:15108281|PMID:19940839|PMID:23389334|PMID:25741868|PMID:28492532|PMID:31010483|PMID:34536170 10042080 CV186707 NM_138694.4(PKHD1):c.9319C>T (p.Arg3107Ter) variant DOID:898 autosomal dominant polycystic kidney disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1 PMID:12506140|PMID:15108281|PMID:19940839|PMID:23389334|PMID:25741868|PMID:28492532|PMID:31010483|PMID:34536170 10042081 CV186715 NM_138694.4(PKHD1):c.1880T>A (p.Met627Lys) variant DOID:0050770 polycystic liver disease IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver PMID:15805161|PMID:24984783|PMID:25193386|PMID:25741868|PMID:28492532 10042081 CV186715 NM_138694.4(PKHD1):c.1880T>A (p.Met627Lys) variant DOID:0080212 polycystic kidney disease 4 IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease 4 PMID:15805161|PMID:24984783|PMID:25193386|PMID:25741868|PMID:28492532 10042081 CV186715 NM_138694.4(PKHD1):c.1880T>A (p.Met627Lys) variant DOID:0110860 polycystic kidney disease 3 IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: PKD3 PMID:15805161|PMID:24984783|PMID:25193386|PMID:25741868|PMID:28492532 10042081 CV186715 NM_138694.4(PKHD1):c.1880T>A (p.Met627Lys) variant DOID:0110861 autosomal recessive polycystic kidney disease IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease PMID:15805161|PMID:24984783|PMID:25193386|PMID:25741868|PMID:28492532 10042081 CV186715 NM_138694.4(PKHD1):c.1880T>A (p.Met627Lys) variant DOID:898 autosomal dominant polycystic kidney disease IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1 PMID:15805161|PMID:24984783|PMID:25193386|PMID:25741868|PMID:28492532 10042082 CV186717 NM_138694.4(PKHD1):c.1830T>A (p.Tyr610Ter) variant DOID:0080212 polycystic kidney disease 4 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease 4 PMID:19940839|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30650191 10042082 CV186717 NM_138694.4(PKHD1):c.1830T>A (p.Tyr610Ter) variant DOID:0110860 polycystic kidney disease 3 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: PKD3 PMID:19940839|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30650191 10042082 CV186717 NM_138694.4(PKHD1):c.1830T>A (p.Tyr610Ter) variant DOID:0110861 autosomal recessive polycystic kidney disease IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease PMID:19940839|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30650191 10042082 CV186717 NM_138694.4(PKHD1):c.1830T>A (p.Tyr610Ter) variant DOID:898 autosomal dominant polycystic kidney disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1 PMID:19940839|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30650191 10042083 CV186713 NM_138694.4(PKHD1):c.2810G>A (p.Trp937Ter) variant DOID:0080322 polycystic kidney disease IAGP D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease PMID:12874454|PMID:19940839|PMID:25741868|PMID:26695994|PMID:28492532 10042083 CV186713 NM_138694.4(PKHD1):c.2810G>A (p.Trp937Ter) variant DOID:0110861 autosomal recessive polycystic kidney disease IAGP D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease PMID:12874454|PMID:19940839|PMID:25741868|PMID:26695994|PMID:28492532 10042084 CV186915 NM_000153.4(GALC):c.1657G>A (p.Gly553Arg) variant DOID:10587 Krabbe disease IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency PMID:10477434|PMID:20886637|PMID:23138179|PMID:24913062|PMID:25741868|PMID:27638593|PMID:28492532 10042085 CV186980 NM_007294.4(BRCA1):c.-20+101C>G variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 PMID:23096355|PMID:25741868 10042086 CV186709 NM_138694.4(PKHD1):c.7916C>A (p.Ser2639Ter) variant DOID:0080212 polycystic kidney disease 4 IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease 4 PMID:19940839|PMID:19940939|PMID:25701400|PMID:25741868|PMID:27225849|PMID:28492532|PMID:29956005 10042086 CV186709 NM_138694.4(PKHD1):c.7916C>A (p.Ser2639Ter) variant DOID:0080322 polycystic kidney disease IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease PMID:19940839|PMID:19940939|PMID:25701400|PMID:25741868|PMID:27225849|PMID:28492532|PMID:29956005 10042086 CV186709 NM_138694.4(PKHD1):c.7916C>A (p.Ser2639Ter) variant DOID:0110860 polycystic kidney disease 3 IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: PKD3 PMID:19940839|PMID:19940939|PMID:25701400|PMID:25741868|PMID:27225849|PMID:28492532|PMID:29956005 10042086 CV186709 NM_138694.4(PKHD1):c.7916C>A (p.Ser2639Ter) variant DOID:0110861 autosomal recessive polycystic kidney disease IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease PMID:19940839|PMID:19940939|PMID:25701400|PMID:25741868|PMID:27225849|PMID:28492532|PMID:29956005 10042086 CV186709 NM_138694.4(PKHD1):c.7916C>A (p.Ser2639Ter) variant DOID:898 autosomal dominant polycystic kidney disease IAGP D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1 PMID:19940839|PMID:19940939|PMID:25701400|PMID:25741868|PMID:27225849|PMID:28492532|PMID:29956005 10042087 CV186719 NM_138694.4(PKHD1):c.1458C>A (p.Tyr486Ter) variant DOID:0080212 polycystic kidney disease 4 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease 4 PMID:19914852|PMID:19940839|PMID:20413436|PMID:21945273|PMID:25741868|PMID:28492532 10042087 CV186719 NM_138694.4(PKHD1):c.1458C>A (p.Tyr486Ter) variant DOID:0110861 autosomal recessive polycystic kidney disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease PMID:19914852|PMID:19940839|PMID:20413436|PMID:21945273|PMID:25741868|PMID:28492532 10042089 CV187224 NM_001750.7(CAST):c.547A>T (p.Lys183Ter) variant DOID:0070526 PLACK syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads PMID:25683118 10042093 CV186215 NM_024675.4(PALB2):c.2597G>T (p.Gly866Val) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532|PMID:31636395 10042093 CV186215 NM_024675.4(PALB2):c.2597G>T (p.Gly866Val) variant DOID:9008952 Breast Cancer, Familial IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868|PMID:28492532|PMID:31636395 10042094 CV186014 NM_000249.4(MLH1):c.319A>G (p.Ile107Val) variant DOID:3883 Lynch syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:25741868|PMID:28492532|PMID:31742824 10042094 CV186014 NM_000249.4(MLH1):c.319A>G (p.Ile107Val) variant DOID:9003892 Mismatch Repair Cancer Syndrome 1 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Mismatch repair cancer syndrome 1 PMID:25741868|PMID:28492532|PMID:31742824 10042094 CV186014 NM_000249.4(MLH1):c.319A>G (p.Ile107Val) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532|PMID:31742824 10042095 CV185960 NM_002354.2(EPCAM):c.859-?_*415del variant DOID:3883 Lynch syndrome IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Lynch syndrome PMID:28492532 10042097 CV185985 NM_000251.3(MSH2):c.2283del (p.Gly761_Leu762insTer) variant DOID:3883 Lynch syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Lynch syndrome PMID:15849733|PMID:28492532 10042098 CV186224 NM_024675.4(PALB2):c.85A>G (p.Ser29Gly) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:27616075|PMID:28492532|PMID:29522266 10042098 CV186224 NM_024675.4(PALB2):c.85A>G (p.Ser29Gly) variant DOID:9008952 Breast Cancer, Familial IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868|PMID:27616075|PMID:28492532|PMID:29522266 10042099 CV186230 NM_004360.5(CDH1):c.1679C>T (p.Thr560Met) variant DOID:0080764 hereditary diffuse gastric cancer IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: DIFFUSE GASTRIC AND LOBULAR BREAST CANCER SYNDROME PMID:25741868|PMID:27498913|PMID:28492532|PMID:30287823|PMID:38874686 10042099 CV186230 NM_004360.5(CDH1):c.1679C>T (p.Thr560Met) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:27498913|PMID:28492532|PMID:30287823|PMID:38874686 10042099 CV186230 NM_004360.5(CDH1):c.1679C>T (p.Thr560Met) variant DOID:9008952 Breast Cancer, Familial IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Breast cancer, familial PMID:25741868|PMID:27498913|PMID:28492532|PMID:30287823|PMID:38874686 10042101 CV186208 NM_024675.3(PALB2):c.3114-?_3350+?del variant DOID:9008952 Breast Cancer, Familial IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:28492532 10042102 CV186209 NM_004360.4(CDH1):c.164-?_*(1_?)dup variant DOID:0080764 hereditary diffuse gastric cancer IAGP D RGD:8554872 20200825 ClinVar ClinVar Annotator: match by term: Hereditary diffuse gastric cancer PMID:28492532 10042103 CV186220 NM_024675.4(PALB2):c.1316G>T (p.Gly439Val) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25085752|PMID:25741868|PMID:26467025|PMID:26580448|PMID:28492532|PMID:33471991 10042103 CV186220 NM_024675.4(PALB2):c.1316G>T (p.Gly439Val) variant DOID:9008952 Breast Cancer, Familial IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25085752|PMID:25741868|PMID:26467025|PMID:26580448|PMID:28492532|PMID:33471991 10042104 CV186142 NM_000051.4(ATM):c.2921+1G>C variant DOID:12704 ataxia telangiectasia IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:11298136|PMID:12815592|PMID:23322442|PMID:25525159|PMID:25741868|PMID:28492532|PMID:8845835 10042104 CV186142 NM_000051.4(ATM):c.2921+1G>C variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:11298136|PMID:12815592|PMID:23322442|PMID:25525159|PMID:25741868|PMID:28492532|PMID:8845835 10042104 CV186142 NM_000051.4(ATM):c.2921+1G>C variant DOID:9008952 Breast Cancer, Familial IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:11298136|PMID:12815592|PMID:23322442|PMID:25525159|PMID:25741868|PMID:28492532|PMID:8845835 10042106 CV186268 NM_032043.3(BRIP1):c.3215C>A (p.Thr1072Asn) variant DOID:9008952 Breast Cancer, Familial IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:28492532 10042107 CV185969 NM_002354.3(EPCAM):c.50C>T (p.Thr17Met) variant DOID:0070270 hereditary nonpolyposis colorectal cancer type 8 IAGP D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 8 PMID:24033266|PMID:28492532 10042107 CV185969 NM_002354.3(EPCAM):c.50C>T (p.Thr17Met) variant DOID:3883 Lynch syndrome IAGP D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Lynch syndrome PMID:24033266|PMID:28492532 10042108 CV185997 NM_000179.3(MSH6):c.2203C>A (p.Leu735Ile) variant DOID:0070272 hereditary nonpolyposis colorectal cancer type 5 IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 5 PMID:25741868|PMID:26467025|PMID:26580448|PMID:28492532|PMID:31613886|PMID:32634176 10042108 CV185997 NM_000179.3(MSH6):c.2203C>A (p.Leu735Ile) variant DOID:2871 endometrial carcinoma IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:25741868|PMID:26467025|PMID:26580448|PMID:28492532|PMID:31613886|PMID:32634176 10042108 CV185997 NM_000179.3(MSH6):c.2203C>A (p.Leu735Ile) variant DOID:3883 Lynch syndrome IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:25741868|PMID:26467025|PMID:26580448|PMID:28492532|PMID:31613886|PMID:32634176 10042108 CV185997 NM_000179.3(MSH6):c.2203C>A (p.Leu735Ile) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:26467025|PMID:26580448|PMID:28492532|PMID:31613886|PMID:32634176 10042109 CV185987 NM_000251.3(MSH2):c.2393A>G (p.Asn798Ser) variant DOID:0070271 Lynch syndrome 1 IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1 PMID:25741868|PMID:28492532|PMID:33357406 10042109 CV185987 NM_000251.3(MSH2):c.2393A>G (p.Asn798Ser) variant DOID:3883 Lynch syndrome IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:25741868|PMID:28492532|PMID:33357406 10042109 CV185987 NM_000251.3(MSH2):c.2393A>G (p.Asn798Ser) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532|PMID:33357406 10042110 CV186138 NM_000051.4(ATM):c.928A>G (p.Ser310Gly) variant DOID:12704 ataxia telangiectasia IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:25741868|PMID:26467025|PMID:28492532|PMID:30550363|PMID:33471991|PMID:35145272 10042110 CV186138 NM_000051.4(ATM):c.928A>G (p.Ser310Gly) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:26467025|PMID:28492532|PMID:30550363|PMID:33471991|PMID:35145272 10042110 CV186138 NM_000051.4(ATM):c.928A>G (p.Ser310Gly) variant DOID:9008952 Breast Cancer, Familial IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868|PMID:26467025|PMID:28492532|PMID:30550363|PMID:33471991|PMID:35145272 10042111 CV186015 NM_000249.4(MLH1):c.1359G>C (p.Lys453Asn) variant DOID:0050465 Muir-Torre syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Muir-Torré syndrome PMID:23047549|PMID:25741868|PMID:27363726|PMID:28492532|PMID:29684080|PMID:33471991|PMID:34326862 10042111 CV186015 NM_000249.4(MLH1):c.1359G>C (p.Lys453Asn) variant DOID:0070274 hereditary nonpolyposis colorectal cancer type 2 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 2 PMID:23047549|PMID:25741868|PMID:27363726|PMID:28492532|PMID:29684080|PMID:33471991|PMID:34326862 10042111 CV186015 NM_000249.4(MLH1):c.1359G>C (p.Lys453Asn) variant DOID:3883 Lynch syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Lynch syndrome PMID:23047549|PMID:25741868|PMID:27363726|PMID:28492532|PMID:29684080|PMID:33471991|PMID:34326862 10042111 CV186015 NM_000249.4(MLH1):c.1359G>C (p.Lys453Asn) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:23047549|PMID:25741868|PMID:27363726|PMID:28492532|PMID:29684080|PMID:33471991|PMID:34326862 10042112 CV186001 NM_000179.3(MSH6):c.3844A>C (p.Thr1282Pro) variant DOID:3883 Lynch syndrome IAGP D RGD:8554872 20201027 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 10042112 CV186001 NM_000179.3(MSH6):c.3844A>C (p.Thr1282Pro) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:28492532 10042113 CV186223 NM_024675.4(PALB2):c.1096A>G (p.Asn366Asp) variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer PMID:25741868|PMID:28492532 10042113 CV186223 NM_024675.4(PALB2):c.1096A>G (p.Asn366Asp) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532 10042113 CV186223 NM_024675.4(PALB2):c.1096A>G (p.Asn366Asp) variant DOID:9008952 Breast Cancer, Familial IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868|PMID:28492532 10042114 CV185977 NM_000251.3(MSH2):c.491G>A (p.Gly164Glu) variant DOID:0070271 Lynch syndrome 1 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1 PMID:15849733|PMID:1710317|PMID:17531815|PMID:18951462|PMID:23443670|PMID:28492532|PMID:33357406 10042114 CV185977 NM_000251.3(MSH2):c.491G>A (p.Gly164Glu) variant DOID:3883 Lynch syndrome IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Lynch syndrome PMID:15849733|PMID:1710317|PMID:17531815|PMID:18951462|PMID:23443670|PMID:28492532|PMID:33357406 10042114 CV185977 NM_000251.3(MSH2):c.491G>A (p.Gly164Glu) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:15849733|PMID:1710317|PMID:17531815|PMID:18951462|PMID:23443670|PMID:28492532|PMID:33357406 10042115 CV185994 NM_000179.3(MSH6):c.1447G>C (p.Val483Leu) variant DOID:3883 Lynch syndrome IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Lynch syndrome PMID:25741868|PMID:28492532 10042115 CV185994 NM_000179.3(MSH6):c.1447G>C (p.Val483Leu) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532 10042116 CV186133 NM_000051.4(ATM):c.72+1G>A variant DOID:12704 ataxia telangiectasia IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:16199547|PMID:23807571|PMID:25614872|PMID:25741868|PMID:28492532|PMID:30287823|PMID:34824606|PMID:9887333 10042116 CV186133 NM_000051.4(ATM):c.72+1G>A variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:16199547|PMID:23807571|PMID:25614872|PMID:25741868|PMID:28492532|PMID:30287823|PMID:34824606|PMID:9887333 10042116 CV186133 NM_000051.4(ATM):c.72+1G>A variant DOID:9008952 Breast Cancer, Familial IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:16199547|PMID:23807571|PMID:25614872|PMID:25741868|PMID:28492532|PMID:30287823|PMID:34824606|PMID:9887333 10042117 CV186210 NM_024675.4(PALB2):c.3106G>C (p.Val1036Leu) variant DOID:1520 colon carcinoma IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Carcinoma of colon PMID:25741868|PMID:26283626|PMID:28492532|PMID:28779002|PMID:32546565|PMID:33471991 10042117 CV186210 NM_024675.4(PALB2):c.3106G>C (p.Val1036Leu) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:26283626|PMID:28492532|PMID:28779002|PMID:32546565|PMID:33471991 10042117 CV186210 NM_024675.4(PALB2):c.3106G>C (p.Val1036Leu) variant DOID:9008952 Breast Cancer, Familial IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868|PMID:26283626|PMID:28492532|PMID:28779002|PMID:32546565|PMID:33471991 10042118 CV185980 NM_000251.3(MSH2):c.1070A>C (p.Glu357Ala) variant DOID:0070271 Lynch syndrome 1 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1 PMID:18383312|PMID:22006311|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30267214|PMID:33357406 10042118 CV185980 NM_000251.3(MSH2):c.1070A>C (p.Glu357Ala) variant DOID:3883 Lynch syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Lynch syndrome PMID:18383312|PMID:22006311|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30267214|PMID:33357406 10042118 CV185980 NM_000251.3(MSH2):c.1070A>C (p.Glu357Ala) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:18383312|PMID:22006311|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30267214|PMID:33357406 10042119 CV186084 NM_000535.7(PMS2):c.1185del (p.Met396fs) variant DOID:3883 Lynch syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lynch syndrome PMID:21376568|PMID:24362816|PMID:28492532|PMID:31992580 10042119 CV186084 NM_000535.7(PMS2):c.1185del (p.Met396fs) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:21376568|PMID:24362816|PMID:28492532|PMID:31992580 10042120 CV185972 NM_002354.3(EPCAM):c.392C>A (p.Thr131Asn) variant DOID:0060776 congenital diarrhea 5 with tufting enteropathy IAGP D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: EPCAM-related condition PMID:28492532 10042120 CV185972 NM_002354.3(EPCAM):c.392C>A (p.Thr131Asn) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:28492532 10042121 CV186081 NM_000535.7(PMS2):c.1819G>A (p.Val607Ile) variant DOID:0070275 hereditary nonpolyposis colorectal cancer type 4 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Lynch syndrome 4 PMID:25741868|PMID:28492532 10042121 CV186081 NM_000535.7(PMS2):c.1819G>A (p.Val607Ile) variant DOID:3883 Lynch syndrome IAGP D RGD:8554872 20201027 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:25741868|PMID:28492532 10042121 CV186081 NM_000535.7(PMS2):c.1819G>A (p.Val607Ile) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532 10042122 CV185983 NM_000251.3(MSH2):c.1922G>A (p.Cys641Tyr) variant DOID:3883 Lynch syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:25741868|PMID:28492532|PMID:33357406 10042122 CV185983 NM_000251.3(MSH2):c.1922G>A (p.Cys641Tyr) variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:28492532|PMID:33357406 10042122 CV185983 NM_000251.3(MSH2):c.1922G>A (p.Cys641Tyr) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532|PMID:33357406 10042123 CV186134 NM_000051.4(ATM):c.134G>A (p.Arg45Gln) variant DOID:12704 ataxia telangiectasia IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:25741868|PMID:28492532|PMID:30287823|PMID:36243179 10042123 CV186134 NM_000051.4(ATM):c.134G>A (p.Arg45Gln) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532|PMID:30287823|PMID:36243179 10042123 CV186134 NM_000051.4(ATM):c.134G>A (p.Arg45Gln) variant DOID:9008952 Breast Cancer, Familial IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868|PMID:28492532|PMID:30287823|PMID:36243179 10042124 CV185974 NM_000251.3(MSH2):c.67T>C (p.Phe23Leu) variant DOID:0070271 Lynch syndrome 1 IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1 PMID:25420488|PMID:25741868|PMID:26467025|PMID:27363726|PMID:27974047|PMID:28492532 10042124 CV185974 NM_000251.3(MSH2):c.67T>C (p.Phe23Leu) variant DOID:1612 breast cancer IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:25420488|PMID:25741868|PMID:26467025|PMID:27363726|PMID:27974047|PMID:28492532 10042124 CV185974 NM_000251.3(MSH2):c.67T>C (p.Phe23Leu) variant DOID:3883 Lynch syndrome IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:25420488|PMID:25741868|PMID:26467025|PMID:27363726|PMID:27974047|PMID:28492532 10042124 CV185974 NM_000251.3(MSH2):c.67T>C (p.Phe23Leu) variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25420488|PMID:25741868|PMID:26467025|PMID:27363726|PMID:27974047|PMID:28492532 10042124 CV185974 NM_000251.3(MSH2):c.67T>C (p.Phe23Leu) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25420488|PMID:25741868|PMID:26467025|PMID:27363726|PMID:27974047|PMID:28492532 10042125 CV186083 NM_000535.7(PMS2):c.1654C>A (p.His552Asn) variant DOID:3883 Lynch syndrome IAGP D RGD:8554872 20201027 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 10042126 CV186082 NM_000535.7(PMS2):c.1702C>T (p.Pro568Ser) variant DOID:3883 Lynch syndrome IAGP D RGD:8554872 20201027 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 10042126 CV186082 NM_000535.7(PMS2):c.1702C>T (p.Pro568Ser) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:28492532 10042127 CV186213 NM_024675.4(PALB2):c.2835-1G>A variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:21285249|PMID:22241545|PMID:25741868|PMID:28492532|PMID:31841383 10042127 CV186213 NM_024675.4(PALB2):c.2835-1G>A variant DOID:9008952 Breast Cancer, Familial IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Breast cancer, familial PMID:21285249|PMID:22241545|PMID:25741868|PMID:28492532|PMID:31841383 10042128 CV186016 NM_000249.4(MLH1):c.1591G>A (p.Val531Met) variant DOID:0070274 hereditary nonpolyposis colorectal cancer type 2 IAGP D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Lynch syndrome II PMID:25741868|PMID:26467025|PMID:28492532 10042128 CV186016 NM_000249.4(MLH1):c.1591G>A (p.Val531Met) variant DOID:3883 Lynch syndrome IAGP D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:25741868|PMID:26467025|PMID:28492532 10042128 CV186016 NM_000249.4(MLH1):c.1591G>A (p.Val531Met) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:26467025|PMID:28492532 10042129 CV186013 NM_000249.4(MLH1):c.286A>G (p.Thr96Ala) variant DOID:0070274 hereditary nonpolyposis colorectal cancer type 2 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 2 PMID:25741868|PMID:28492532 10042129 CV186013 NM_000249.4(MLH1):c.286A>G (p.Thr96Ala) variant DOID:3883 Lynch syndrome IAGP D RGD:8554872 20201027 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:25741868|PMID:28492532 10042129 CV186013 NM_000249.4(MLH1):c.286A>G (p.Thr96Ala) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532 10042130 CV186132 NM_000051.4(ATM):c.38G>A (p.Arg13His) variant DOID:12704 ataxia telangiectasia IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:25741868|PMID:28492532|PMID:28779002|PMID:31780696 10042130 CV186132 NM_000051.4(ATM):c.38G>A (p.Arg13His) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532|PMID:28779002|PMID:31780696 10042130 CV186132 NM_000051.4(ATM):c.38G>A (p.Arg13His) variant DOID:9008952 Breast Cancer, Familial IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868|PMID:28492532|PMID:28779002|PMID:31780696 10042131 CV186211 NM_024675.4(PALB2):c.2920_2923del (p.Lys974fs) variant DOID:9008952 Breast Cancer, Familial IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:17200668|PMID:17200671|PMID:17200672|PMID:24136930|PMID:25099575|PMID:28492532 10042132 CV186139 NM_000051.4(ATM):c.1358C>T (p.Pro453Leu) variant DOID:12704 ataxia telangiectasia IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:25741868|PMID:28492532|PMID:35039564 10042132 CV186139 NM_000051.4(ATM):c.1358C>T (p.Pro453Leu) variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:28492532|PMID:35039564 10042132 CV186139 NM_000051.4(ATM):c.1358C>T (p.Pro453Leu) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532|PMID:35039564 10042133 CV185995 NM_000179.3(MSH6):c.1498G>A (p.Ala500Thr) variant DOID:3883 Lynch syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Lynch syndrome PMID:22949387|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32832836 10042133 CV185995 NM_000179.3(MSH6):c.1498G>A (p.Ala500Thr) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:22949387|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32832836 10042134 CV186217 NM_024675.4(PALB2):c.1966_1967insAGAGGAAGCTGTATTTTTC (p.Pro656fs) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17200668|PMID:17200671|PMID:17200672|PMID:24136930|PMID:25099575|PMID:28492532 10042134 CV186217 NM_024675.4(PALB2):c.1966_1967insAGAGGAAGCTGTATTTTTC (p.Pro656fs) variant DOID:9008952 Breast Cancer, Familial IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:17200668|PMID:17200671|PMID:17200672|PMID:24136930|PMID:25099575|PMID:28492532 10042135 CV186017 NM_000249.4(MLH1):c.1853A>T (p.Lys618Met) variant DOID:0070274 hereditary nonpolyposis colorectal cancer type 2 IAGP D RGD:8554872 20180807 ClinVar ClinVar Annotator: match by term: Lynch syndrome II PMID:25741868|PMID:28492532 10042135 CV186017 NM_000249.4(MLH1):c.1853A>T (p.Lys618Met) variant DOID:3883 Lynch syndrome IAGP D RGD:8554872 20201027 ClinVar ClinVar Annotator: match by term: Lynch syndrome PMID:25741868|PMID:28492532 10042135 CV186017 NM_000249.4(MLH1):c.1853A>T (p.Lys618Met) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532 10042136 CV186005 NM_000179.3(MSH6):c.4005A>C (p.Glu1335Asp) variant DOID:0070272 hereditary nonpolyposis colorectal cancer type 5 IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 5 PMID:23523604|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33471991 10042136 CV186005 NM_000179.3(MSH6):c.4005A>C (p.Glu1335Asp) variant DOID:2871 endometrial carcinoma IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:23523604|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33471991 10042136 CV186005 NM_000179.3(MSH6):c.4005A>C (p.Glu1335Asp) variant DOID:3883 Lynch syndrome IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:23523604|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33471991 10042136 CV186005 NM_000179.3(MSH6):c.4005A>C (p.Glu1335Asp) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:23523604|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33471991 10042137 CV186086 NM_000535.7(PMS2):c.433C>A (p.Gln145Lys) variant DOID:3883 Lynch syndrome IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:22949387|PMID:25741868|PMID:28492532|PMID:31391288|PMID:33471991 10042137 CV186086 NM_000535.7(PMS2):c.433C>A (p.Gln145Lys) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:22949387|PMID:25741868|PMID:28492532|PMID:31391288|PMID:33471991 10042138 CV186145 NM_000051.4(ATM):c.4304A>C (p.Lys1435Thr) variant DOID:12704 ataxia telangiectasia IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:25741868|PMID:28492532|PMID:28779002|PMID:33471991|PMID:36315919 10042138 CV186145 NM_000051.4(ATM):c.4304A>C (p.Lys1435Thr) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532|PMID:28779002|PMID:33471991|PMID:36315919 10042138 CV186145 NM_000051.4(ATM):c.4304A>C (p.Lys1435Thr) variant DOID:9008952 Breast Cancer, Familial IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868|PMID:28492532|PMID:28779002|PMID:33471991|PMID:36315919 10042139 CV186144 NM_000051.4(ATM):c.3295G>A (p.Asp1099Asn) variant DOID:12704 ataxia telangiectasia IAGP D RGD:8554872 20211109 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:12697903|PMID:19781682|PMID:21787400|PMID:25231023|PMID:25741868|PMID:26787654|PMID:26976419|PMID:28135145|PMID:28492532|PMID:30093976|PMID:30455982 10042139 CV186144 NM_000051.4(ATM):c.3295G>A (p.Asp1099Asn) variant DOID:1612 breast cancer IAGP D RGD:8554872 20211109 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:12697903|PMID:19781682|PMID:21787400|PMID:25231023|PMID:25741868|PMID:26787654|PMID:26976419|PMID:28135145|PMID:28492532|PMID:30093976|PMID:30455982 10042139 CV186144 NM_000051.4(ATM):c.3295G>A (p.Asp1099Asn) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20211109 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:12697903|PMID:19781682|PMID:21787400|PMID:25231023|PMID:25741868|PMID:26787654|PMID:26976419|PMID:28135145|PMID:28492532|PMID:30093976|PMID:30455982 10042139 CV186144 NM_000051.4(ATM):c.3295G>A (p.Asp1099Asn) variant DOID:9008952 Breast Cancer, Familial IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:12697903|PMID:19781682|PMID:21787400|PMID:25231023|PMID:25741868|PMID:26787654|PMID:26976419|PMID:28135145|PMID:28492532|PMID:30093976|PMID:30455982 10042141 CV186147 NM_000051.4(ATM):c.6107A>G (p.Tyr2036Cys) variant DOID:12704 ataxia telangiectasia IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:28492532 10042141 CV186147 NM_000051.4(ATM):c.6107A>G (p.Tyr2036Cys) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:28492532 10042142 CV186269 NM_032043.3(BRIP1):c.2828T>C (p.Val943Ala) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:28492532 10042142 CV186269 NM_032043.3(BRIP1):c.2828T>C (p.Val943Ala) variant DOID:9008952 Breast Cancer, Familial IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:28492532 10042143 CV185978 NM_000251.3(MSH2):c.782_783insA (p.Met261fs) variant DOID:3883 Lynch syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lynch syndrome PMID:15849733|PMID:24362816|PMID:28492532 10042143 CV185978 NM_000251.3(MSH2):c.782_783insA (p.Met261fs) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:15849733|PMID:24362816|PMID:28492532 10042144 CV185984 NM_000251.3(MSH2):c.2179G>C (p.Ala727Pro) variant DOID:3883 Lynch syndrome IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532|PMID:33357406 10042144 CV185984 NM_000251.3(MSH2):c.2179G>C (p.Ala727Pro) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:28492532|PMID:33357406 10042145 CV185990 NM_000179.3(MSH6):c.631G>A (p.Gly211Ser) variant DOID:3883 Lynch syndrome IAGP D RGD:8554872 20201027 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 10042145 CV185990 NM_000179.3(MSH6):c.631G>A (p.Gly211Ser) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:28492532 10042146 CV186231 NM_004360.5(CDH1):c.1738A>G (p.Thr580Ala) variant DOID:0080764 hereditary diffuse gastric cancer IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: DIFFUSE GASTRIC AND LOBULAR BREAST CANCER SYNDROME PMID:26467025|PMID:28492532|PMID:34326862 10042146 CV186231 NM_004360.5(CDH1):c.1738A>G (p.Thr580Ala) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:26467025|PMID:28492532|PMID:34326862 10042147 CV186216 NM_024675.4(PALB2):c.2597del (p.Gly866fs) variant DOID:9008952 Breast Cancer, Familial IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:17200668|PMID:25099575|PMID:28492532 10042148 CV186232 NM_004360.5(CDH1):c.1793G>A (p.Arg598Gln) variant DOID:0080764 hereditary diffuse gastric cancer IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary diffuse gastric cancer PMID:10094558|PMID:10896919|PMID:22788692|PMID:25186627|PMID:25741868|PMID:26467025|PMID:27925203|PMID:28492532|PMID:28944238|PMID:29641532|PMID:30287823|PMID:30311375|PMID:31054147|PMID:32658311|PMID:33471991|PMID:35534704|PMID:36243179|PMID:36436516|PMID:9744472 10042148 CV186232 NM_004360.5(CDH1):c.1793G>A (p.Arg598Gln) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:10094558|PMID:10896919|PMID:22788692|PMID:25186627|PMID:25741868|PMID:26467025|PMID:27925203|PMID:28492532|PMID:28944238|PMID:29641532|PMID:30287823|PMID:30311375|PMID:31054147|PMID:32658311|PMID:33471991|PMID:35534704|PMID:36243179|PMID:36436516|PMID:9744472 10042148 CV186232 NM_004360.5(CDH1):c.1793G>A (p.Arg598Gln) variant DOID:9008952 Breast Cancer, Familial IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Breast cancer, familial PMID:10094558|PMID:10896919|PMID:22788692|PMID:25186627|PMID:25741868|PMID:26467025|PMID:27925203|PMID:28492532|PMID:28944238|PMID:29641532|PMID:30287823|PMID:30311375|PMID:31054147|PMID:32658311|PMID:33471991|PMID:35534704|PMID:36243179|PMID:36436516|PMID:9744472 10042149 CV186004 NM_000179.3(MSH6):c.3994T>A (p.Leu1332Ile) variant DOID:3883 Lynch syndrome IAGP D RGD:8554872 20201027 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:28492532 10042149 CV186004 NM_000179.3(MSH6):c.3994T>A (p.Leu1332Ile) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:28492532 10042150 CV185963 NM_000312.4(PROC):c.169C>T (p.Arg57Trp) variant DOID:0111904 autosomal recessive thrombophilia due to protein C deficiency IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal recessive PMID:14642106|PMID:1464619|PMID:1498334|PMID:1771629|PMID:22321166|PMID:25741868|PMID:27838551|PMID:28492532|PMID:28607330|PMID:32309994|PMID:7482420|PMID:7792728|PMID:8446940|PMID:8477066|PMID:8499568|PMID:8505327 10042150 CV185963 NM_000312.4(PROC):c.169C>T (p.Arg57Trp) variant DOID:0111909 autosomal dominant thrombophilia due to protein C deficiency IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant PMID:14642106|PMID:1464619|PMID:1498334|PMID:1771629|PMID:22321166|PMID:25741868|PMID:27838551|PMID:28492532|PMID:28607330|PMID:32309994|PMID:7482420|PMID:7792728|PMID:8446940|PMID:8477066|PMID:8499568|PMID:8505327 10042150 CV185963 NM_000312.4(PROC):c.169C>T (p.Arg57Trp) variant DOID:9006363 Congenital Thrombotic Disease, due to Protein C Deficiency IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Hereditary thrombophilia due to congenital protein C deficiency PMID:14642106|PMID:1464619|PMID:1498334|PMID:1771629|PMID:22321166|PMID:25741868|PMID:27838551|PMID:28492532|PMID:28607330|PMID:32309994|PMID:7482420|PMID:7792728|PMID:8446940|PMID:8477066|PMID:8499568|PMID:8505327 10042151 CV186141 NM_000051.4(ATM):c.2689T>A (p.Phe897Ile) variant DOID:12704 ataxia telangiectasia IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:25741868|PMID:26467025|PMID:28492532|PMID:28726808|PMID:28779002|PMID:29371908|PMID:30181556|PMID:33471991|PMID:34262154|PMID:35451682 10042151 CV186141 NM_000051.4(ATM):c.2689T>A (p.Phe897Ile) variant DOID:162 cancer IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: ATM-related cancer predisposition PMID:25741868|PMID:26467025|PMID:28492532|PMID:28726808|PMID:28779002|PMID:29371908|PMID:30181556|PMID:33471991|PMID:34262154|PMID:35451682 10042151 CV186141 NM_000051.4(ATM):c.2689T>A (p.Phe897Ile) variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:26467025|PMID:28492532|PMID:28726808|PMID:28779002|PMID:29371908|PMID:30181556|PMID:33471991|PMID:34262154|PMID:35451682 10042151 CV186141 NM_000051.4(ATM):c.2689T>A (p.Phe897Ile) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:26467025|PMID:28492532|PMID:28726808|PMID:28779002|PMID:29371908|PMID:30181556|PMID:33471991|PMID:34262154|PMID:35451682 10042151 CV186141 NM_000051.4(ATM):c.2689T>A (p.Phe897Ile) variant DOID:9008952 Breast Cancer, Familial IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868|PMID:26467025|PMID:28492532|PMID:28726808|PMID:28779002|PMID:29371908|PMID:30181556|PMID:33471991|PMID:34262154|PMID:35451682 10042153 CV186148 NM_000051.4(ATM):c.6233C>T (p.Ser2078Phe) variant DOID:12704 ataxia telangiectasia IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:25741868|PMID:28492532 10042153 CV186148 NM_000051.4(ATM):c.6233C>T (p.Ser2078Phe) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532 10042154 CV186079 NM_000535.7(PMS2):c.1901A>G (p.His634Arg) variant DOID:3883 Lynch syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Lynch syndrome PMID:25741868|PMID:26467025|PMID:28492532|PMID:32547938|PMID:37704212 10042154 CV186079 NM_000535.7(PMS2):c.1901A>G (p.His634Arg) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:26467025|PMID:28492532|PMID:32547938|PMID:37704212 10042155 CV186242 NM_032043.2(BRIP1):c.919-?_1140+?del variant DOID:9008952 Breast Cancer, Familial IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:28492532 10042156 CV186135 NM_000051.4(ATM):c.409T>G (p.Tyr137Asp) variant DOID:12704 ataxia telangiectasia IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:28492532 10042157 CV185970 NM_002354.3(EPCAM):c.93C>G (p.Asn31Lys) variant DOID:0070270 hereditary nonpolyposis colorectal cancer type 8 IAGP D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer type 8 PMID:28492532 10042157 CV185970 NM_002354.3(EPCAM):c.93C>G (p.Asn31Lys) variant DOID:0070271 Lynch syndrome 1 IAGP D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Lynch syndrome I PMID:28492532 10042158 CV186229 NM_004360.5(CDH1):c.884C>A (p.Thr295Asn) variant DOID:0080764 hereditary diffuse gastric cancer IAGP D RGD:8554872 20200825 ClinVar ClinVar Annotator: match by term: Hereditary diffuse gastric cancer PMID:28492532 10042158 CV186229 NM_004360.5(CDH1):c.884C>A (p.Thr295Asn) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20200407 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:28492532 10042160 CV185999 NM_000179.3(MSH6):c.3711G>C (p.Glu1237Asp) variant DOID:3883 Lynch syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Lynch syndrome PMID:25741868|PMID:28492532 10042160 CV185999 NM_000179.3(MSH6):c.3711G>C (p.Glu1237Asp) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:25741868|PMID:28492532 10042161 CV186000 NM_000179.3(MSH6):c.3740C>G (p.Thr1247Ser) variant DOID:0070272 hereditary nonpolyposis colorectal cancer type 5 IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 5 PMID:25741868|PMID:26467025|PMID:28492532|PMID:32255556|PMID:33471991|PMID:35449176 10042161 CV186000 NM_000179.3(MSH6):c.3740C>G (p.Thr1247Ser) variant DOID:2871 endometrial carcinoma IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:25741868|PMID:26467025|PMID:28492532|PMID:32255556|PMID:33471991|PMID:35449176 10042161 CV186000 NM_000179.3(MSH6):c.3740C>G (p.Thr1247Ser) variant DOID:3883 Lynch syndrome IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:25741868|PMID:26467025|PMID:28492532|PMID:32255556|PMID:33471991|PMID:35449176 10042161 CV186000 NM_000179.3(MSH6):c.3740C>G (p.Thr1247Ser) variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer PMID:25741868|PMID:26467025|PMID:28492532|PMID:32255556|PMID:33471991|PMID:35449176 10042161 CV186000 NM_000179.3(MSH6):c.3740C>G (p.Thr1247Ser) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:25741868|PMID:26467025|PMID:28492532|PMID:32255556|PMID:33471991|PMID:35449176 10042162 CV185979 NM_000251.3(MSH2):c.956A>T (p.Asp319Val) variant DOID:3883 Lynch syndrome IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:25741868|PMID:28492532|PMID:30093976|PMID:33357406 10042162 CV185979 NM_000251.3(MSH2):c.956A>T (p.Asp319Val) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532|PMID:30093976|PMID:33357406 10042163 CV185989 NM_000179.3(MSH6):c.533G>A (p.Arg178His) variant DOID:0070272 hereditary nonpolyposis colorectal cancer type 5 IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 5 PMID:25224212|PMID:25741868|PMID:26467025|PMID:27363726|PMID:28492532 10042163 CV185989 NM_000179.3(MSH6):c.533G>A (p.Arg178His) variant DOID:1612 breast cancer IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:25224212|PMID:25741868|PMID:26467025|PMID:27363726|PMID:28492532 10042163 CV185989 NM_000179.3(MSH6):c.533G>A (p.Arg178His) variant DOID:2871 endometrial carcinoma IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:25224212|PMID:25741868|PMID:26467025|PMID:27363726|PMID:28492532 10042163 CV185989 NM_000179.3(MSH6):c.533G>A (p.Arg178His) variant DOID:3883 Lynch syndrome IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Lynch syndrome PMID:25224212|PMID:25741868|PMID:26467025|PMID:27363726|PMID:28492532 10042163 CV185989 NM_000179.3(MSH6):c.533G>A (p.Arg178His) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25224212|PMID:25741868|PMID:26467025|PMID:27363726|PMID:28492532 10042164 CV185981 NM_000251.3(MSH2):c.1442T>A (p.Leu481Ter) variant DOID:0070271 Lynch syndrome 1 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1 PMID:15849733|PMID:24362816|PMID:28492532 10042164 CV185981 NM_000251.3(MSH2):c.1442T>A (p.Leu481Ter) variant DOID:3883 Lynch syndrome IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Lynch syndrome PMID:15849733|PMID:24362816|PMID:28492532 10042165 CV185973 NM_002354.3(EPCAM):c.878G>A (p.Arg293Lys) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:28492532 10042166 CV186080 NM_000535.7(PMS2):c.1828A>G (p.Lys610Glu) variant DOID:0070275 hereditary nonpolyposis colorectal cancer type 4 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Lynch syndrome 4 PMID:25741868|PMID:26467025|PMID:26689913|PMID:28492532|PMID:30246500|PMID:30311369|PMID:30787465|PMID:33471991|PMID:34707284 10042166 CV186080 NM_000535.7(PMS2):c.1828A>G (p.Lys610Glu) variant DOID:3883 Lynch syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:25741868|PMID:26467025|PMID:26689913|PMID:28492532|PMID:30246500|PMID:30311369|PMID:30787465|PMID:33471991|PMID:34707284 10042166 CV186080 NM_000535.7(PMS2):c.1828A>G (p.Lys610Glu) variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 PMID:25741868|PMID:26467025|PMID:26689913|PMID:28492532|PMID:30246500|PMID:30311369|PMID:30787465|PMID:33471991|PMID:34707284 10042166 CV186080 NM_000535.7(PMS2):c.1828A>G (p.Lys610Glu) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:26467025|PMID:26689913|PMID:28492532|PMID:30246500|PMID:30311369|PMID:30787465|PMID:33471991|PMID:34707284 10042167 CV185962 NM_000251.2(MSH2):c.1077-?_1276+?dup variant DOID:3883 Lynch syndrome IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Lynch syndrome PMID:28492532 10042168 CV186218 NM_024675.4(PALB2):c.1659C>A (p.His553Gln) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:23977390|PMID:25741868|PMID:28492532|PMID:34917121|PMID:35171259 10042168 CV186218 NM_024675.4(PALB2):c.1659C>A (p.His553Gln) variant DOID:9008952 Breast Cancer, Familial IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:23977390|PMID:25741868|PMID:28492532|PMID:34917121|PMID:35171259 10042169 CV186085 NM_000535.7(PMS2):c.466A>G (p.Thr156Ala) variant DOID:0070275 hereditary nonpolyposis colorectal cancer type 4 IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 4 PMID:22949387|PMID:23499907|PMID:25741868|PMID:26320870|PMID:26423401|PMID:26467025|PMID:28492532|PMID:28767177|PMID:35449176 10042169 CV186085 NM_000535.7(PMS2):c.466A>G (p.Thr156Ala) variant DOID:3883 Lynch syndrome IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:22949387|PMID:23499907|PMID:25741868|PMID:26320870|PMID:26423401|PMID:26467025|PMID:28492532|PMID:28767177|PMID:35449176 10042169 CV186085 NM_000535.7(PMS2):c.466A>G (p.Thr156Ala) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:22949387|PMID:23499907|PMID:25741868|PMID:26320870|PMID:26423401|PMID:26467025|PMID:28492532|PMID:28767177|PMID:35449176 10042170 CV186214 NM_024675.4(PALB2):c.2671T>A (p.Cys891Ser) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:28492532 10042170 CV186214 NM_024675.4(PALB2):c.2671T>A (p.Cys891Ser) variant DOID:9008952 Breast Cancer, Familial IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:28492532 10042172 CV185986 NM_000251.3(MSH2):c.2354A>G (p.His785Arg) variant DOID:0070271 Lynch syndrome 1 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 PMID:25637381|PMID:25741868|PMID:28492532|PMID:30798936|PMID:33357406|PMID:33471991|PMID:33848333 10042172 CV185986 NM_000251.3(MSH2):c.2354A>G (p.His785Arg) variant DOID:3883 Lynch syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Lynch syndrome PMID:25637381|PMID:25741868|PMID:28492532|PMID:30798936|PMID:33357406|PMID:33471991|PMID:33848333 10042172 CV185986 NM_000251.3(MSH2):c.2354A>G (p.His785Arg) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25637381|PMID:25741868|PMID:28492532|PMID:30798936|PMID:33357406|PMID:33471991|PMID:33848333 10042172 CV185986 NM_000251.3(MSH2):c.2354A>G (p.His785Arg) variant DOID:9256 colorectal cancer IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 PMID:25637381|PMID:25741868|PMID:28492532|PMID:30798936|PMID:33357406|PMID:33471991|PMID:33848333 10042174 CV186221 NM_024675.4(PALB2):c.1241G>A (p.Arg414Gln) variant DOID:9004083 Familial Pancreatic Carcinoma IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Familial pancreatic carcinoma PMID:21618343|PMID:25741868|PMID:28492532|PMID:28779002|PMID:32546565|PMID:33471991 10042174 CV186221 NM_024675.4(PALB2):c.1241G>A (p.Arg414Gln) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:21618343|PMID:25741868|PMID:28492532|PMID:28779002|PMID:32546565|PMID:33471991 10042174 CV186221 NM_024675.4(PALB2):c.1241G>A (p.Arg414Gln) variant DOID:9008952 Breast Cancer, Familial IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Breast cancer, familial PMID:21618343|PMID:25741868|PMID:28492532|PMID:28779002|PMID:32546565|PMID:33471991 10042175 CV186271 NM_032043.3(BRIP1):c.617C>T (p.Ser206Leu) variant DOID:0111097 Fanconi anemia complementation group J IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group J PMID:25741868|PMID:26315354|PMID:26467025|PMID:28492532|PMID:31206626|PMID:31214711|PMID:33309985|PMID:33471991 10042175 CV186271 NM_032043.3(BRIP1):c.617C>T (p.Ser206Leu) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:26315354|PMID:26467025|PMID:28492532|PMID:31206626|PMID:31214711|PMID:33309985|PMID:33471991 10042175 CV186271 NM_032043.3(BRIP1):c.617C>T (p.Ser206Leu) variant DOID:9008952 Breast Cancer, Familial IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868|PMID:26315354|PMID:26467025|PMID:28492532|PMID:31206626|PMID:31214711|PMID:33309985|PMID:33471991 10042176 CV186143 NM_000051.4(ATM):c.3080A>G (p.His1027Arg) variant DOID:12704 ataxia telangiectasia IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:25186627|PMID:25741868|PMID:28492532|PMID:28779002|PMID:32885271|PMID:33471991 10042176 CV186143 NM_000051.4(ATM):c.3080A>G (p.His1027Arg) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25186627|PMID:25741868|PMID:28492532|PMID:28779002|PMID:32885271|PMID:33471991 10042176 CV186143 NM_000051.4(ATM):c.3080A>G (p.His1027Arg) variant DOID:9008952 Breast Cancer, Familial IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25186627|PMID:25741868|PMID:28492532|PMID:28779002|PMID:32885271|PMID:33471991 10042177 CV186150 NM_000051.4(ATM):c.9050T>C (p.Leu3017Pro) variant DOID:12704 ataxia telangiectasia IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:25741868|PMID:28492532 10042177 CV186150 NM_000051.4(ATM):c.9050T>C (p.Leu3017Pro) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532 10042178 CV186136 NM_000051.4(ATM):c.548A>C (p.His183Pro) variant DOID:12704 ataxia telangiectasia IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:25741868|PMID:28492532 10042178 CV186136 NM_000051.4(ATM):c.548A>C (p.His183Pro) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532 10042178 CV186136 NM_000051.4(ATM):c.548A>C (p.His183Pro) variant DOID:9008952 Breast Cancer, Familial IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868|PMID:28492532 10042179 CV186146 NM_000051.4(ATM):c.5612C>T (p.Thr1871Ile) variant DOID:12704 ataxia telangiectasia IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:25741868|PMID:25980754|PMID:26467025|PMID:28492532|PMID:28652578|PMID:29659569|PMID:30543347|PMID:30824826|PMID:31970404|PMID:33436325|PMID:33742106|PMID:36029002|PMID:39256447 10042179 CV186146 NM_000051.4(ATM):c.5612C>T (p.Thr1871Ile) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:25980754|PMID:26467025|PMID:28492532|PMID:28652578|PMID:29659569|PMID:30543347|PMID:30824826|PMID:31970404|PMID:33436325|PMID:33742106|PMID:36029002|PMID:39256447 10042179 CV186146 NM_000051.4(ATM):c.5612C>T (p.Thr1871Ile) variant DOID:9008952 Breast Cancer, Familial IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868|PMID:25980754|PMID:26467025|PMID:28492532|PMID:28652578|PMID:29659569|PMID:30543347|PMID:30824826|PMID:31970404|PMID:33436325|PMID:33742106|PMID:36029002|PMID:39256447 10042180 CV185993 NM_000179.3(MSH6):c.1255C>G (p.Gln419Glu) variant DOID:3883 Lynch syndrome IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Lynch syndrome PMID:25741868|PMID:28492532 10042180 CV185993 NM_000179.3(MSH6):c.1255C>G (p.Gln419Glu) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532 10042181 CV186219 NM_024675.4(PALB2):c.1487A>G (p.Asp496Gly) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:26467025|PMID:28492532|PMID:31768066 10042181 CV186219 NM_024675.4(PALB2):c.1487A>G (p.Asp496Gly) variant DOID:9008952 Breast Cancer, Familial IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:26467025|PMID:28492532|PMID:31768066 10042183 CV186267 NM_032043.3(BRIP1):c.3238G>A (p.Asp1080Asn) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532 10042183 CV186267 NM_032043.3(BRIP1):c.3238G>A (p.Asp1080Asn) variant DOID:9008952 Breast Cancer, Familial IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868|PMID:28492532 10042184 CV185998 NM_000179.3(MSH6):c.3439G>A (p.Ala1147Thr) variant DOID:3883 Lynch syndrome IAGP D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:25741868|PMID:28492532 10042184 CV185998 NM_000179.3(MSH6):c.3439G>A (p.Ala1147Thr) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532 10042185 CV186283 NM_000455.5(STK11):c.580G>A (p.Asp194Asn) variant DOID:3852 Peutz-Jeghers syndrome IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Peutz-Jeghers syndrome PMID:10408777|PMID:12865922|PMID:15561763|PMID:15863673|PMID:16287113|PMID:16582077|PMID:17026623|PMID:19892943|PMID:20393878|PMID:20435009|PMID:23399955|PMID:23718779|PMID:25226294|PMID:25741868|PMID:26056085|PMID:26467025|PMID:27081308|PMID:28152038|PMID:28492532|PMID:30528796|PMID:31159747 10042185 CV186283 NM_000455.5(STK11):c.580G>A (p.Asp194Asn) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10408777|PMID:12865922|PMID:15561763|PMID:15863673|PMID:16287113|PMID:16582077|PMID:17026623|PMID:19892943|PMID:20393878|PMID:20435009|PMID:23399955|PMID:23718779|PMID:25226294|PMID:25741868|PMID:26056085|PMID:26467025|PMID:27081308|PMID:28152038|PMID:28492532|PMID:30528796|PMID:31159747 10042186 CV185975 NM_000251.3(MSH2):c.174C>A (p.Phe58Leu) variant DOID:0070271 Lynch syndrome 1 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1 PMID:25741868|PMID:25980754|PMID:26467025|PMID:28492532|PMID:33357406|PMID:33471991 10042186 CV185975 NM_000251.3(MSH2):c.174C>A (p.Phe58Leu) variant DOID:3883 Lynch syndrome IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:25741868|PMID:25980754|PMID:26467025|PMID:28492532|PMID:33357406|PMID:33471991 10042186 CV185975 NM_000251.3(MSH2):c.174C>A (p.Phe58Leu) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:25980754|PMID:26467025|PMID:28492532|PMID:33357406|PMID:33471991 10042187 CV185991 NM_000179.3(MSH6):c.956C>T (p.Thr319Met) variant DOID:0070272 hereditary nonpolyposis colorectal cancer type 5 IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 5 PMID:23621914|PMID:25741868|PMID:26467025|PMID:27363726|PMID:28492532 10042187 CV185991 NM_000179.3(MSH6):c.956C>T (p.Thr319Met) variant DOID:3883 Lynch syndrome IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:23621914|PMID:25741868|PMID:26467025|PMID:27363726|PMID:28492532 10042187 CV185991 NM_000179.3(MSH6):c.956C>T (p.Thr319Met) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary neoplastic syndrome PMID:23621914|PMID:25741868|PMID:26467025|PMID:27363726|PMID:28492532 10042188 CV186137 NM_000051.4(ATM):c.902G>A (p.Gly301Asp) variant DOID:12704 ataxia telangiectasia IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:16832357|PMID:19781682|PMID:20305132|PMID:20346647|PMID:25085752|PMID:25741868|PMID:26467025|PMID:28259476|PMID:28492532|PMID:28779002|PMID:29522266|PMID:33436325|PMID:33471991|PMID:34326862|PMID:35467778|PMID:35716007 10042188 CV186137 NM_000051.4(ATM):c.902G>A (p.Gly301Asp) variant DOID:1612 breast cancer IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:16832357|PMID:19781682|PMID:20305132|PMID:20346647|PMID:25085752|PMID:25741868|PMID:26467025|PMID:28259476|PMID:28492532|PMID:28779002|PMID:29522266|PMID:33436325|PMID:33471991|PMID:34326862|PMID:35467778|PMID:35716007 10042188 CV186137 NM_000051.4(ATM):c.902G>A (p.Gly301Asp) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:16832357|PMID:19781682|PMID:20305132|PMID:20346647|PMID:25085752|PMID:25741868|PMID:26467025|PMID:28259476|PMID:28492532|PMID:28779002|PMID:29522266|PMID:33436325|PMID:33471991|PMID:34326862|PMID:35467778|PMID:35716007 10042188 CV186137 NM_000051.4(ATM):c.902G>A (p.Gly301Asp) variant DOID:9008952 Breast Cancer, Familial IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:16832357|PMID:19781682|PMID:20305132|PMID:20346647|PMID:25085752|PMID:25741868|PMID:26467025|PMID:28259476|PMID:28492532|PMID:28779002|PMID:29522266|PMID:33436325|PMID:33471991|PMID:34326862|PMID:35467778|PMID:35716007 10042190 CV185971 NM_002354.3(EPCAM):c.161A>G (p.Gln54Arg) variant DOID:0070270 hereditary nonpolyposis colorectal cancer type 8 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 8 PMID:28492532 10042191 CV186206 NC_000016.10:g.(?_23603458)_(23603669_?)del variant DOID:9008952 Breast Cancer, Familial IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:28492532 10042192 CV186159 NM_001370259.2(MEN1):c.3G>A (p.Met1Ile) variant DOID:10017 multiple endocrine neoplasia type 1 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 PMID:24915123|PMID:25741868|PMID:26767918|PMID:28329921|PMID:28492532|PMID:28736585|PMID:29036195|PMID:31482957|PMID:35407574|PMID:36654999 10042192 CV186159 NM_001370259.2(MEN1):c.3G>A (p.Met1Ile) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:24915123|PMID:25741868|PMID:26767918|PMID:28329921|PMID:28492532|PMID:28736585|PMID:29036195|PMID:31482957|PMID:35407574|PMID:36654999 10042193 CV186222 NM_024675.4(PALB2):c.1115G>C (p.Ser372Thr) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532 10042193 CV186222 NM_024675.4(PALB2):c.1115G>C (p.Ser372Thr) variant DOID:9008952 Breast Cancer, Familial IAGP D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868|PMID:28492532 10042194 CV185982 NM_000251.3(MSH2):c.1670C>G (p.Thr557Ser) variant DOID:0070271 Lynch syndrome 1 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1 PMID:25741868|PMID:28492532 10042194 CV185982 NM_000251.3(MSH2):c.1670C>G (p.Thr557Ser) variant DOID:3883 Lynch syndrome IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Lynch syndrome PMID:25741868|PMID:28492532 10042194 CV185982 NM_000251.3(MSH2):c.1670C>G (p.Thr557Ser) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532 10042195 CV186212 NM_024675.4(PALB2):c.2896A>G (p.Ile966Val) variant DOID:0111094 Fanconi anemia complementation group N IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group N PMID:21618343|PMID:25741868|PMID:28492532|PMID:31586400|PMID:32546565|PMID:32658311|PMID:33471991|PMID:35089076|PMID:35610400 10042195 CV186212 NM_024675.4(PALB2):c.2896A>G (p.Ile966Val) variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 PMID:21618343|PMID:25741868|PMID:28492532|PMID:31586400|PMID:32546565|PMID:32658311|PMID:33471991|PMID:35089076|PMID:35610400 10042195 CV186212 NM_024675.4(PALB2):c.2896A>G (p.Ile966Val) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:21618343|PMID:25741868|PMID:28492532|PMID:31586400|PMID:32546565|PMID:32658311|PMID:33471991|PMID:35089076|PMID:35610400 10042195 CV186212 NM_024675.4(PALB2):c.2896A>G (p.Ile966Val) variant DOID:9008952 Breast Cancer, Familial IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:21618343|PMID:25741868|PMID:28492532|PMID:31586400|PMID:32546565|PMID:32658311|PMID:33471991|PMID:35089076|PMID:35610400 10042196 CV186270 NM_032043.3(BRIP1):c.2447G>A (p.Trp816Ter) variant DOID:9008952 Breast Cancer, Familial IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:16116424|PMID:18628483|PMID:28492532 10042197 CV185992 NM_000179.3(MSH6):c.1108_1109del (p.Leu370fs) variant DOID:0070272 hereditary nonpolyposis colorectal cancer type 5 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 5 PMID:18269114|PMID:20028993|PMID:24362816|PMID:25741868|PMID:26687385|PMID:28492532 10042197 CV185992 NM_000179.3(MSH6):c.1108_1109del (p.Leu370fs) variant DOID:3883 Lynch syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:18269114|PMID:20028993|PMID:24362816|PMID:25741868|PMID:26687385|PMID:28492532 10042197 CV185992 NM_000179.3(MSH6):c.1108_1109del (p.Leu370fs) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:18269114|PMID:20028993|PMID:24362816|PMID:25741868|PMID:26687385|PMID:28492532 10042199 CV185976 NM_000251.3(MSH2):c.264dup (p.Val89fs) variant DOID:3883 Lynch syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Lynch syndrome PMID:24362816|PMID:28492532 10042200 CV186266 NM_032043.3(BRIP1):c.3374_3376del (p.Ala1125del) variant DOID:1612 breast cancer IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:25741868|PMID:26921362|PMID:28492532|PMID:32885271 10042200 CV186266 NM_032043.3(BRIP1):c.3374_3376del (p.Ala1125del) variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer PMID:25741868|PMID:26921362|PMID:28492532|PMID:32885271 10042200 CV186266 NM_032043.3(BRIP1):c.3374_3376del (p.Ala1125del) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:26921362|PMID:28492532|PMID:32885271 10042200 CV186266 NM_032043.3(BRIP1):c.3374_3376del (p.Ala1125del) variant DOID:9008939 Breast Neoplasms IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: BRIP1-related disorder PMID:25741868|PMID:26921362|PMID:28492532|PMID:32885271 10042200 CV186266 NM_032043.3(BRIP1):c.3374_3376del (p.Ala1125del) variant DOID:9008952 Breast Cancer, Familial IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868|PMID:26921362|PMID:28492532|PMID:32885271 10042201 CV186665 NM_000182.5(HADHA):c.1967del (p.Ile655_Leu656insTer) variant DOID:0061186 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency PMID:10352164|PMID:21103935|PMID:21549624|PMID:22459206|PMID:25741868|PMID:28492532|PMID:7738175 10042201 CV186665 NM_000182.5(HADHA):c.1967del (p.Ile655_Leu656insTer) variant DOID:0111277 mitochondrial trifunctional protein deficiency IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Mitochondrial trifunctional protein deficiency PMID:10352164|PMID:21103935|PMID:21549624|PMID:22459206|PMID:25741868|PMID:28492532|PMID:7738175 10042202 CV186728 NM_000441.2(SLC26A4):c.279del (p.Ser93fs) variant DOID:0060744 Pendred syndrome IAGP D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Pendred syndrome PMID:11716048|PMID:16283880|PMID:17940114|PMID:18285825|PMID:23273637|PMID:25394566|PMID:25741868|PMID:26252218|PMID:26445815|PMID:28492532|PMID:9920104 10042202 CV186728 NM_000441.2(SLC26A4):c.279del (p.Ser93fs) variant DOID:0110498 autosomal recessive nonsyndromic deafness 4 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct PMID:11716048|PMID:16283880|PMID:17940114|PMID:18285825|PMID:23273637|PMID:25394566|PMID:25741868|PMID:26252218|PMID:26445815|PMID:28492532|PMID:9920104 10042203 CV186931 NM_002225.5(IVD):c.457-2A>G variant DOID:14753 isovaleric acidemia IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Isovaleryl-CoA dehydrogenase deficiency PMID:10677295|PMID:17576084|PMID:25741868 10042204 CV186722 NM_000441.2(SLC26A4):c.3G>C (p.Met1Ile) variant DOID:0060744 Pendred syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pendred syndrome PMID:17876604|PMID:19204907|PMID:21961810|PMID:25741868|PMID:27997596|PMID:28492532 10042206 CV186605 NM_014625.4(NPHS2):c.503G>A (p.Arg168His) variant DOID:0080379 nephrotic syndrome type 2 IAGP D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome PMID:14675423|PMID:14978175|PMID:15042551|PMID:15059485|PMID:15253708|PMID:15322893|PMID:16810518|PMID:17899208|PMID:18216321|PMID:19067903|PMID:19371226|PMID:19674119|PMID:20507940|PMID:20798252|PMID:23013956|PMID:25741868|PMID:26211502|PMID:26467025|PMID:26467726|PMID:28385484|PMID:28492532|PMID:30655312 10042206 CV186605 NM_014625.4(NPHS2):c.503G>A (p.Arg168His) variant DOID:0080390 nephrotic syndrome type 1 IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome PMID:14675423|PMID:14978175|PMID:15042551|PMID:15059485|PMID:15253708|PMID:15322893|PMID:16810518|PMID:17899208|PMID:18216321|PMID:19067903|PMID:19371226|PMID:19674119|PMID:20507940|PMID:20798252|PMID:23013956|PMID:25741868|PMID:26211502|PMID:26467025|PMID:26467726|PMID:28385484|PMID:28492532|PMID:30655312 10042206 CV186605 NM_014625.4(NPHS2):c.503G>A (p.Arg168His) variant DOID:1184 nephrotic syndrome IAGP D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome PMID:14675423|PMID:14978175|PMID:15042551|PMID:15059485|PMID:15253708|PMID:15322893|PMID:16810518|PMID:17899208|PMID:18216321|PMID:19067903|PMID:19371226|PMID:19674119|PMID:20507940|PMID:20798252|PMID:23013956|PMID:25741868|PMID:26211502|PMID:26467025|PMID:26467726|PMID:28385484|PMID:28492532|PMID:30655312 10042207 CV186802 NM_000051.4(ATM):c.5644C>T (p.Arg1882Ter) variant DOID:10534 stomach cancer IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:12552559|PMID:12815592|PMID:15039971|PMID:21445571|PMID:21665257|PMID:23322442|PMID:23807571|PMID:25614872|PMID:25625042|PMID:25741868|PMID:28492532|PMID:30159786|PMID:36988593|PMID:37239058 10042207 CV186802 NM_000051.4(ATM):c.5644C>T (p.Arg1882Ter) variant DOID:12704 ataxia telangiectasia IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:12552559|PMID:12815592|PMID:15039971|PMID:21445571|PMID:21665257|PMID:23322442|PMID:23807571|PMID:25614872|PMID:25625042|PMID:25741868|PMID:28492532|PMID:30159786|PMID:36988593|PMID:37239058 10042207 CV186802 NM_000051.4(ATM):c.5644C>T (p.Arg1882Ter) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:12552559|PMID:12815592|PMID:15039971|PMID:21445571|PMID:21665257|PMID:23322442|PMID:23807571|PMID:25614872|PMID:25625042|PMID:25741868|PMID:28492532|PMID:30159786|PMID:36988593|PMID:37239058 10042207 CV186802 NM_000051.4(ATM):c.5644C>T (p.Arg1882Ter) variant DOID:9008952 Breast Cancer, Familial IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:12552559|PMID:12815592|PMID:15039971|PMID:21445571|PMID:21665257|PMID:23322442|PMID:23807571|PMID:25614872|PMID:25625042|PMID:25741868|PMID:28492532|PMID:30159786|PMID:36988593|PMID:37239058 10042208 CV186803 NM_000051.4(ATM):c.7927+5del variant DOID:12704 ataxia telangiectasia IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:15390180|PMID:17576681|PMID:26467025|PMID:28492532|PMID:29906526|PMID:9536098 10042208 CV186803 NM_000051.4(ATM):c.7927+5del variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:15390180|PMID:17576681|PMID:26467025|PMID:28492532|PMID:29906526|PMID:9536098 10042209 CV186619 NM_000478.6(ALPL):c.791A>G (p.Lys264Arg) variant DOID:0110913 adult hypophosphatasia IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Adult hypophosphatasia PMID:17922851|PMID:18328985|PMID:25023282|PMID:25741868|PMID:28492532|PMID:29236161 10042209 CV186619 NM_000478.6(ALPL):c.791A>G (p.Lys264Arg) variant DOID:0110914 infantile hypophosphatasia IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Infantile hypophosphatasia PMID:17922851|PMID:18328985|PMID:25023282|PMID:25741868|PMID:28492532|PMID:29236161 10042209 CV186619 NM_000478.6(ALPL):c.791A>G (p.Lys264Arg) variant DOID:14213 hypophosphatasia IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypophosphatasia PMID:17922851|PMID:18328985|PMID:25023282|PMID:25741868|PMID:28492532|PMID:29236161 10042210 CV186736 NM_000441.2(SLC26A4):c.1547dup (p.Ser517fs) variant DOID:0060744 Pendred syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pendred syndrome PMID:12676893|PMID:16283880|PMID:19786220|PMID:20842945|PMID:21704276|PMID:21961810|PMID:23151025|PMID:23151031|PMID:23918157|PMID:24341454|PMID:24612839|PMID:25394566|PMID:25741868|PMID:26252218|PMID:26445815|PMID:27997596|PMID:28492532 10042210 CV186736 NM_000441.2(SLC26A4):c.1547dup (p.Ser517fs) variant DOID:0110498 autosomal recessive nonsyndromic deafness 4 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct PMID:12676893|PMID:16283880|PMID:19786220|PMID:20842945|PMID:21704276|PMID:21961810|PMID:23151025|PMID:23151031|PMID:23918157|PMID:24341454|PMID:24612839|PMID:25394566|PMID:25741868|PMID:26252218|PMID:26445815|PMID:27997596|PMID:28492532 10042211 CV186807 NM_001164277.2(SLC37A4):c.742C>T (p.Gln248Ter) variant DOID:0081330 glycogen storage disease Ib IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:10026167|PMID:10940311|PMID:12373566|PMID:15906092|PMID:18437526|PMID:24565827|PMID:25741868|PMID:28492532|PMID:9758626 10042212 CV186725 NM_000441.2(SLC26A4):c.165-2A>G variant DOID:0060744 Pendred syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Pendred's syndrome PMID:12112665|PMID:16283880|PMID:16482981 10042213 CV187051 NM_000071.3(CBS):c.1566del (p.Lys523fs) variant DOID:9263 homocystinuria IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Homocystinuria PMID:11553052|PMID:12815602|PMID:16429402|PMID:21520339|PMID:25044645|PMID:25741868|PMID:28492532 10042214 CV187060 NM_000071.3(CBS):c.346G>A (p.Gly116Arg) variant DOID:9263 homocystinuria IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Homocystinuria PMID:10687314|PMID:12686134|PMID:12828591|PMID:14722927|PMID:20066033|PMID:22267502|PMID:25455305|PMID:25741868|PMID:28492532|PMID:29508359|PMID:8803779|PMID:9587029 10042215 CV186621 NM_000478.6(ALPL):c.871G>A (p.Glu291Lys) variant DOID:0110914 infantile hypophosphatasia IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Infantile hypophosphatasia PMID:10332035|PMID:11999978|PMID:28127875|PMID:28492532|PMID:32160374|PMID:9781036 10042216 CV186734 NM_000441.2(SLC26A4):c.1079C>T (p.Ala360Val) variant DOID:0060744 Pendred syndrome IAGP D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Pendred syndrome PMID:17697873|PMID:21154317|PMID:21961810|PMID:23151025|PMID:23185506|PMID:23266159|PMID:23838540|PMID:23918157|PMID:24341454|PMID:24612839|PMID:25741868|PMID:26252218|PMID:26969326|PMID:28492532 10042216 CV186734 NM_000441.2(SLC26A4):c.1079C>T (p.Ala360Val) variant DOID:0110498 autosomal recessive nonsyndromic deafness 4 IAGP D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct PMID:17697873|PMID:21154317|PMID:21961810|PMID:23151025|PMID:23185506|PMID:23266159|PMID:23838540|PMID:23918157|PMID:24341454|PMID:24612839|PMID:25741868|PMID:26252218|PMID:26969326|PMID:28492532 10042217 CV186617 NM_000478.6(ALPL):c.542C>T (p.Ser181Leu) variant DOID:0110913 adult hypophosphatasia IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adult hypophosphatasia PMID:11479741|PMID:16583935|PMID:17253930|PMID:21956185|PMID:25741868|PMID:28436937|PMID:28492532|PMID:32160374|PMID:33549410|PMID:33977024 10042217 CV186617 NM_000478.6(ALPL):c.542C>T (p.Ser181Leu) variant DOID:0110914 infantile hypophosphatasia IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Infantile hypophosphatasia PMID:11479741|PMID:16583935|PMID:17253930|PMID:21956185|PMID:25741868|PMID:28436937|PMID:28492532|PMID:32160374|PMID:33549410|PMID:33977024 10042217 CV186617 NM_000478.6(ALPL):c.542C>T (p.Ser181Leu) variant DOID:0110915 childhood hypophosphatasia IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Childhood hypophosphatasia PMID:11479741|PMID:16583935|PMID:17253930|PMID:21956185|PMID:25741868|PMID:28436937|PMID:28492532|PMID:32160374|PMID:33549410|PMID:33977024 10042217 CV186617 NM_000478.6(ALPL):c.542C>T (p.Ser181Leu) variant DOID:14213 hypophosphatasia IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypophosphatasia PMID:11479741|PMID:16583935|PMID:17253930|PMID:21956185|PMID:25741868|PMID:28436937|PMID:28492532|PMID:32160374|PMID:33549410|PMID:33977024 10042217 CV186617 NM_000478.6(ALPL):c.542C>T (p.Ser181Leu) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11479741|PMID:16583935|PMID:17253930|PMID:21956185|PMID:25741868|PMID:28436937|PMID:28492532|PMID:32160374|PMID:33549410|PMID:33977024 10042218 CV186806 NM_001164277.2(SLC37A4):c.923_934dup (p.Met308_Met311dup) variant DOID:0081330 glycogen storage disease Ib IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Glycogen storage disease Ib PMID:12373566|PMID:15757503|PMID:18996862|PMID:24565827|PMID:25741868|PMID:28492532|PMID:33977030|PMID:9758626 10042218 CV186806 NM_001164277.2(SLC37A4):c.923_934dup (p.Met308_Met311dup) variant DOID:0081331 glycogen storage disease Ic IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: GSD Ic PMID:12373566|PMID:15757503|PMID:18996862|PMID:24565827|PMID:25741868|PMID:28492532|PMID:33977030|PMID:9758626 10042219 CV187055 NM_000071.3(CBS):c.1039G>A (p.Gly347Ser) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:12124992|PMID:16205833|PMID:16307898|PMID:17576681|PMID:19370759|PMID:19914636|PMID:22267502|PMID:24211323|PMID:25741868|PMID:27243974|PMID:28492532|PMID:30202406|PMID:9536098 10042219 CV187055 NM_000071.3(CBS):c.1039G>A (p.Gly347Ser) variant DOID:9263 homocystinuria IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Homocystinuria PMID:12124992|PMID:16205833|PMID:16307898|PMID:17576681|PMID:19370759|PMID:19914636|PMID:22267502|PMID:24211323|PMID:25741868|PMID:27243974|PMID:28492532|PMID:30202406|PMID:9536098 10042220 CV186603 NM_014625.4(NPHS2):c.855_856del (p.Arg286fs) variant DOID:0080379 nephrotic syndrome type 2 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome PMID:10742096|PMID:11805166|PMID:15253708|PMID:15327385|PMID:18823551|PMID:19406966|PMID:20947785|PMID:21355056|PMID:24509478|PMID:24742477|PMID:25741868|PMID:28492532|PMID:30655312|PMID:32581362|PMID:8589695 10042220 CV186603 NM_014625.4(NPHS2):c.855_856del (p.Arg286fs) variant DOID:0111128 focal segmental glomerulosclerosis 1 IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Focal sclerosis with hyalinosis PMID:10742096|PMID:11805166|PMID:15253708|PMID:15327385|PMID:18823551|PMID:19406966|PMID:20947785|PMID:21355056|PMID:24509478|PMID:24742477|PMID:25741868|PMID:28492532|PMID:30655312|PMID:32581362|PMID:8589695 10042220 CV186603 NM_014625.4(NPHS2):c.855_856del (p.Arg286fs) variant DOID:1184 nephrotic syndrome IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephrotic range proteinuria PMID:10742096|PMID:11805166|PMID:15253708|PMID:15327385|PMID:18823551|PMID:19406966|PMID:20947785|PMID:21355056|PMID:24509478|PMID:24742477|PMID:25741868|PMID:28492532|PMID:30655312|PMID:32581362|PMID:8589695 10042220 CV186603 NM_014625.4(NPHS2):c.855_856del (p.Arg286fs) variant DOID:1312 focal segmental glomerulosclerosis IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:10742096|PMID:11805166|PMID:15253708|PMID:15327385|PMID:18823551|PMID:19406966|PMID:20947785|PMID:21355056|PMID:24509478|PMID:24742477|PMID:25741868|PMID:28492532|PMID:30655312|PMID:32581362|PMID:8589695 10042220 CV186603 NM_014625.4(NPHS2):c.855_856del (p.Arg286fs) variant DOID:2590 familial nephrotic syndrome IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Hereditary nephrotic syndrome PMID:10742096|PMID:11805166|PMID:15253708|PMID:15327385|PMID:18823551|PMID:19406966|PMID:20947785|PMID:21355056|PMID:24509478|PMID:24742477|PMID:25741868|PMID:28492532|PMID:30655312|PMID:32581362|PMID:8589695 10042220 CV186603 NM_014625.4(NPHS2):c.855_856del (p.Arg286fs) variant DOID:784 chronic kidney disease IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:10742096|PMID:11805166|PMID:15253708|PMID:15327385|PMID:18823551|PMID:19406966|PMID:20947785|PMID:21355056|PMID:24509478|PMID:24742477|PMID:25741868|PMID:28492532|PMID:30655312|PMID:32581362|PMID:8589695 10042221 CV187054 NM_000071.3(CBS):c.1136G>A (p.Arg379Gln) variant DOID:9263 homocystinuria IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Homocystinuria PMID:12815602|PMID:16429402|PMID:16479318|PMID:17069888|PMID:21520339|PMID:25741868|PMID:28492532|PMID:30873612|PMID:33057012|PMID:36964972 10042222 CV187057 NM_000071.3(CBS):c.689del (p.Leu230fs) variant DOID:9263 homocystinuria IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Homocystinuria PMID:10338090|PMID:12124992|PMID:20871414|PMID:21520339|PMID:25741868|PMID:28492532 10042223 CV186738 NM_000441.2(SLC26A4):c.1919G>A (p.Trp640Ter) variant DOID:0060744 Pendred syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Pendred's syndrome PMID:22412181|PMID:24612839 10042224 CV186724 NM_000441.2(SLC26A4):c.164+1del variant DOID:0060744 Pendred syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pendred syndrome PMID:16283880|PMID:22717225|PMID:23918157|PMID:25394566|PMID:25741868|PMID:26252218|PMID:26445815|PMID:27861301|PMID:28492532 10042224 CV186724 NM_000441.2(SLC26A4):c.164+1del variant DOID:0110498 autosomal recessive nonsyndromic deafness 4 IAGP D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 4 PMID:16283880|PMID:22717225|PMID:23918157|PMID:25394566|PMID:25741868|PMID:26252218|PMID:26445815|PMID:27861301|PMID:28492532 10042225 CV186727 NM_000441.2(SLC26A4):c.269C>T (p.Ser90Leu) variant DOID:0060744 Pendred syndrome IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Pendred syndrome PMID:12676893|PMID:17443271|PMID:19287372|PMID:20842945|PMID:23555729|PMID:25372295|PMID:25741868|PMID:26969326|PMID:27247933|PMID:27771369|PMID:27792752|PMID:28492532|PMID:31107121|PMID:31599023|PMID:32417962|PMID:32681043 10042225 CV186727 NM_000441.2(SLC26A4):c.269C>T (p.Ser90Leu) variant DOID:0110498 autosomal recessive nonsyndromic deafness 4 IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct PMID:12676893|PMID:17443271|PMID:19287372|PMID:20842945|PMID:23555729|PMID:25372295|PMID:25741868|PMID:26969326|PMID:27247933|PMID:27771369|PMID:27792752|PMID:28492532|PMID:31107121|PMID:31599023|PMID:32417962|PMID:32681043 10042226 CV187069 NM_000487.6(ARSA):c.1489_1492dup (p.Arg498fs) variant DOID:10581 metachromatic leukodystrophy IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:12809638|PMID:14517960|PMID:19021637|PMID:25741868|PMID:26462614|PMID:28492532 10042227 CV186924 NM_000295.5(SERPINA1):c.1158dup (p.Glu387fs) variant DOID:13372 alpha 1-antitrypsin deficiency IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Alpha-1-antitrypsin deficiency PMID:11334395|PMID:22016686|PMID:25741868|PMID:28492532|PMID:7977369|PMID:9070606 10042228 CV186927 NM_000295.5(SERPINA1):c.552C>G (p.Tyr184Ter) variant DOID:13372 alpha 1-antitrypsin deficiency IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Alpha-1-antitrypsin deficiency PMID:18024524|PMID:18353624|PMID:2481421|PMID:25425243|PMID:25741868|PMID:28492532|PMID:3040726 10042229 CV186742 NM_000441.2(SLC26A4):c.2127del (p.Phe709fs) variant DOID:0060744 Pendred syndrome IAGP D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Pendred syndrome PMID:15355436|PMID:16283880|PMID:16570074|PMID:23336812|PMID:24224479|PMID:25394566|PMID:25741868|PMID:26252218|PMID:26445815|PMID:28492532|PMID:9618167 10042229 CV186742 NM_000441.2(SLC26A4):c.2127del (p.Phe709fs) variant DOID:0110498 autosomal recessive nonsyndromic deafness 4 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 4 PMID:15355436|PMID:16283880|PMID:16570074|PMID:23336812|PMID:24224479|PMID:25394566|PMID:25741868|PMID:26252218|PMID:26445815|PMID:28492532|PMID:9618167 10042231 CV186731 NM_000441.2(SLC26A4):c.554G>C (p.Arg185Thr) variant DOID:0060744 Pendred syndrome IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pendred's syndrome PMID:20597900|PMID:22285650|PMID:24033266|PMID:24051746|PMID:25741868|PMID:28492532|PMID:30311386|PMID:31387071|PMID:34599368 10042231 CV186731 NM_000441.2(SLC26A4):c.554G>C (p.Arg185Thr) variant DOID:0110498 autosomal recessive nonsyndromic deafness 4 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4 PMID:20597900|PMID:22285650|PMID:24033266|PMID:24051746|PMID:25741868|PMID:28492532|PMID:30311386|PMID:31387071|PMID:34599368 10042232 CV186740 NM_000441.2(SLC26A4):c.1975G>C (p.Val659Leu) variant DOID:0060744 Pendred syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pendred syndrome PMID:17443271|PMID:17718863|PMID:18274916|PMID:19040761|PMID:19645628|PMID:19744334|PMID:21366435|PMID:21961810|PMID:22289209|PMID:22384008|PMID:23151025|PMID:23385134|PMID:23638949|PMID:23918157|PMID:24105851|PMID:24341454|PMID:24599119|PMID:24612839|PMID:25266519|PMID:25372295|PMID:25741868|PMID:26100058|PMID:28492532|PMID:31599023 10042232 CV186740 NM_000441.2(SLC26A4):c.1975G>C (p.Val659Leu) variant DOID:0110498 autosomal recessive nonsyndromic deafness 4 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct PMID:17443271|PMID:17718863|PMID:18274916|PMID:19040761|PMID:19645628|PMID:19744334|PMID:21366435|PMID:21961810|PMID:22289209|PMID:22384008|PMID:23151025|PMID:23385134|PMID:23638949|PMID:23918157|PMID:24105851|PMID:24341454|PMID:24599119|PMID:24612839|PMID:25266519|PMID:25372295|PMID:25741868|PMID:26100058|PMID:28492532|PMID:31599023 10042233 CV186604 NM_014625.4(NPHS2):c.586C>T (p.Arg196Ter) variant DOID:0080379 nephrotic syndrome type 2 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 2 PMID:10742096|PMID:11733557|PMID:14701729|PMID:15253708|PMID:15780077|PMID:23595123|PMID:25741868|PMID:28492532 10042234 CV186797 NM_000051.4(ATM):c.640del (p.Ser214fs) variant DOID:12704 ataxia telangiectasia IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:12815592|PMID:15039971|PMID:21445571|PMID:21965147|PMID:23807571|PMID:25614872|PMID:25741868|PMID:26467025|PMID:26681312|PMID:26896183|PMID:27664052|PMID:27913932|PMID:28492532|PMID:28724667|PMID:30159786|PMID:30549301|PMID:30607632|PMID:36329109|PMID:36387226|PMID:37438524|PMID:8789452|PMID:9463314 10042234 CV186797 NM_000051.4(ATM):c.640del (p.Ser214fs) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:12815592|PMID:15039971|PMID:21445571|PMID:21965147|PMID:23807571|PMID:25614872|PMID:25741868|PMID:26467025|PMID:26681312|PMID:26896183|PMID:27664052|PMID:27913932|PMID:28492532|PMID:28724667|PMID:30159786|PMID:30549301|PMID:30607632|PMID:36329109|PMID:36387226|PMID:37438524|PMID:8789452|PMID:9463314 10042234 CV186797 NM_000051.4(ATM):c.640del (p.Ser214fs) variant DOID:9008952 Breast Cancer, Familial IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:12815592|PMID:15039971|PMID:21445571|PMID:21965147|PMID:23807571|PMID:25614872|PMID:25741868|PMID:26467025|PMID:26681312|PMID:26896183|PMID:27664052|PMID:27913932|PMID:28492532|PMID:28724667|PMID:30159786|PMID:30549301|PMID:30607632|PMID:36329109|PMID:36387226|PMID:37438524|PMID:8789452|PMID:9463314 10042235 CV186796 NM_000051.4(ATM):c.3G>A (p.Met1Ile) variant DOID:12704 ataxia telangiectasia IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:11526498|PMID:12552559|PMID:21593342|PMID:21665257|PMID:21681852|PMID:21792198|PMID:22146522|PMID:22649200|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28767289|PMID:28779002|PMID:29625052|PMID:29922827|PMID:30549301|PMID:31285527|PMID:32427313|PMID:33471991|PMID:35047863|PMID:35483985|PMID:8845835|PMID:9463314 10042235 CV186796 NM_000051.4(ATM):c.3G>A (p.Met1Ile) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:11526498|PMID:12552559|PMID:21593342|PMID:21665257|PMID:21681852|PMID:21792198|PMID:22146522|PMID:22649200|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28767289|PMID:28779002|PMID:29625052|PMID:29922827|PMID:30549301|PMID:31285527|PMID:32427313|PMID:33471991|PMID:35047863|PMID:35483985|PMID:8845835|PMID:9463314 10042235 CV186796 NM_000051.4(ATM):c.3G>A (p.Met1Ile) variant DOID:9008952 Breast Cancer, Familial IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:11526498|PMID:12552559|PMID:21593342|PMID:21665257|PMID:21681852|PMID:21792198|PMID:22146522|PMID:22649200|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28767289|PMID:28779002|PMID:29625052|PMID:29922827|PMID:30549301|PMID:31285527|PMID:32427313|PMID:33471991|PMID:35047863|PMID:35483985|PMID:8845835|PMID:9463314 10042236 CV187058 NM_000071.3(CBS):c.667-14_667-7del variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:17576681|PMID:21520339|PMID:25741868|PMID:28492532|PMID:28980096|PMID:34449521|PMID:9536098 10042236 CV187058 NM_000071.3(CBS):c.667-14_667-7del variant DOID:9263 homocystinuria IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Homocystinuria PMID:17576681|PMID:21520339|PMID:25741868|PMID:28492532|PMID:28980096|PMID:34449521|PMID:9536098 10042237 CV186929 NM_002225.5(IVD):c.149G>C (p.Arg50Pro) variant DOID:14753 isovaleric acidemia IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Isovaleryl-CoA dehydrogenase deficiency PMID:10677295|PMID:15486829|PMID:16825284|PMID:25741868|PMID:26018748|PMID:27904153|PMID:28492532|PMID:9665741 10042238 CV187056 NM_000071.3(CBS):c.770C>T (p.Thr257Met) variant DOID:9263 homocystinuria IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Homocystinuria PMID:12686134|PMID:16205833|PMID:16479318|PMID:21517828|PMID:22267502|PMID:22977242|PMID:25741868|PMID:28492532|PMID:29508359|PMID:29600437|PMID:7762555 10042238 CV187056 NM_000071.3(CBS):c.770C>T (p.Thr257Met) variant DOID:9279 hyperhomocysteinemia IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Hyperhomocysteinemia PMID:12686134|PMID:16205833|PMID:16479318|PMID:21517828|PMID:22267502|PMID:22977242|PMID:25741868|PMID:28492532|PMID:29508359|PMID:29600437|PMID:7762555 10042239 CV186615 NM_000478.6(ALPL):c.215T>C (p.Ile72Thr) variant DOID:0110913 adult hypophosphatasia IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Adult hypophosphatasia PMID:19500388|PMID:22397652|PMID:25741868|PMID:28492532 10042239 CV186615 NM_000478.6(ALPL):c.215T>C (p.Ile72Thr) variant DOID:0110914 infantile hypophosphatasia IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Infantile hypophosphatasia PMID:19500388|PMID:22397652|PMID:25741868|PMID:28492532 10042239 CV186615 NM_000478.6(ALPL):c.215T>C (p.Ile72Thr) variant DOID:14213 hypophosphatasia IAGP D RGD:8554872 20250821 ClinVar ClinVar Annotator: match by term: ALPL-related disorder PMID:19500388|PMID:22397652|PMID:25741868|PMID:28492532 10042240 CV187059 NM_000071.3(CBS):c.362G>A (p.Arg121His) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10338090|PMID:12686134|PMID:16307898|PMID:16479318|PMID:21520339|PMID:22267502|PMID:25741868|PMID:28492532|PMID:30873612|PMID:31301157 10042240 CV187059 NM_000071.3(CBS):c.362G>A (p.Arg121His) variant DOID:9263 homocystinuria IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Homocystinuria PMID:10338090|PMID:12686134|PMID:16307898|PMID:16479318|PMID:21520339|PMID:22267502|PMID:25741868|PMID:28492532|PMID:30873612|PMID:31301157 10042241 CV187071 NM_000487.6(ARSA):c.979+1G>A variant DOID:10581 metachromatic leukodystrophy IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:14517960|PMID:16199547|PMID:19815439|PMID:25741868|PMID:28492532|PMID:34276053|PMID:34554397|PMID:8962139 10042242 CV186726 NM_000441.2(SLC26A4):c.235C>T (p.Arg79Ter) variant DOID:0060744 Pendred syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Pendred syndrome PMID:16283880|PMID:18813951|PMID:19648736|PMID:19718752|PMID:25149764|PMID:25394566|PMID:25741868|PMID:26252218|PMID:26445815|PMID:26969326|PMID:28492532|PMID:32645618|PMID:34416374 10042242 CV186726 NM_000441.2(SLC26A4):c.235C>T (p.Arg79Ter) variant DOID:0110498 autosomal recessive nonsyndromic deafness 4 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct PMID:16283880|PMID:18813951|PMID:19648736|PMID:19718752|PMID:25149764|PMID:25394566|PMID:25741868|PMID:26252218|PMID:26445815|PMID:26969326|PMID:28492532|PMID:32645618|PMID:34416374 10042243 CV186606 NM_014625.4(NPHS2):c.502C>T (p.Arg168Cys) variant DOID:0080379 nephrotic syndrome type 2 IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 2 PMID:14675423|PMID:15042551|PMID:15059485|PMID:15253708|PMID:18596732|PMID:24072147|PMID:25741868|PMID:26467726|PMID:28385484|PMID:28492532|PMID:30721404|PMID:32604935 10042244 CV186798 NM_000051.4(ATM):c.802C>T (p.Gln268Ter) variant DOID:12704 ataxia telangiectasia IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:10330348|PMID:12552559|PMID:16832357|PMID:19781682|PMID:23807571|PMID:25614872|PMID:25741868|PMID:27664052|PMID:28492532|PMID:35284771|PMID:9121450 10042244 CV186798 NM_000051.4(ATM):c.802C>T (p.Gln268Ter) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10330348|PMID:12552559|PMID:16832357|PMID:19781682|PMID:23807571|PMID:25614872|PMID:25741868|PMID:27664052|PMID:28492532|PMID:35284771|PMID:9121450 10042244 CV186798 NM_000051.4(ATM):c.802C>T (p.Gln268Ter) variant DOID:9008952 Breast Cancer, Familial IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:10330348|PMID:12552559|PMID:16832357|PMID:19781682|PMID:23807571|PMID:25614872|PMID:25741868|PMID:27664052|PMID:28492532|PMID:35284771|PMID:9121450 10042245 CV186666 NM_000182.5(HADHA):c.1793_1794del (p.His598fs) variant DOID:0061186 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency PMID:11855930|PMID:12442268|PMID:12971428|PMID:21103935|PMID:21549624|PMID:22459206|PMID:25741868|PMID:28492532|PMID:29519241|PMID:31589614|PMID:31980526|PMID:32778825|PMID:7738175 10042245 CV186666 NM_000182.5(HADHA):c.1793_1794del (p.His598fs) variant DOID:0070619 mitochondrial trifunctional protein deficiency 1 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Mitochondrial trifunctional protein deficiency 1 PMID:11855930|PMID:12442268|PMID:12971428|PMID:21103935|PMID:21549624|PMID:22459206|PMID:25741868|PMID:28492532|PMID:29519241|PMID:31589614|PMID:31980526|PMID:32778825|PMID:7738175 10042245 CV186666 NM_000182.5(HADHA):c.1793_1794del (p.His598fs) variant DOID:0111277 mitochondrial trifunctional protein deficiency IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Mitochondrial trifunctional protein deficiency PMID:11855930|PMID:12442268|PMID:12971428|PMID:21103935|PMID:21549624|PMID:22459206|PMID:25741868|PMID:28492532|PMID:29519241|PMID:31589614|PMID:31980526|PMID:32778825|PMID:7738175 10042246 CV187073 NM_000487.6(ARSA):c.240dup (p.Gly81fs) variant DOID:10581 metachromatic leukodystrophy IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:10477432|PMID:17438611|PMID:26462614|PMID:28492532|PMID:29379168|PMID:8962139 10042247 CV186732 NM_000441.2(SLC26A4):c.890del (p.Pro297fs) variant DOID:0060744 Pendred syndrome IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Pendred syndrome PMID:16053392|PMID:16283880|PMID:24051746|PMID:25394566|PMID:25741868|PMID:26252218|PMID:26445815|PMID:28492532 10042247 CV186732 NM_000441.2(SLC26A4):c.890del (p.Pro297fs) variant DOID:0110498 autosomal recessive nonsyndromic deafness 4 IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 4 PMID:16053392|PMID:16283880|PMID:24051746|PMID:25394566|PMID:25741868|PMID:26252218|PMID:26445815|PMID:28492532 10042248 CV186735 NM_000441.2(SLC26A4):c.1520del (p.Leu506_Leu507insTer) variant DOID:0060744 Pendred syndrome IAGP D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Pendred syndrome PMID:16283880|PMID:21961810|PMID:23185506|PMID:23918157|PMID:25394566|PMID:25741868|PMID:26252218|PMID:26445815|PMID:28492532|PMID:28786104 10042248 CV186735 NM_000441.2(SLC26A4):c.1520del (p.Leu506_Leu507insTer) variant DOID:0110498 autosomal recessive nonsyndromic deafness 4 IAGP D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct PMID:16283880|PMID:21961810|PMID:23185506|PMID:23918157|PMID:25394566|PMID:25741868|PMID:26252218|PMID:26445815|PMID:28492532|PMID:28786104 10042249 CV186667 NM_000182.5(HADHA):c.703C>T (p.Arg235Trp) variant DOID:0061186 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency PMID:19433283|PMID:21549624|PMID:22065858|PMID:25741868|PMID:28492532|PMID:34878152 10042249 CV186667 NM_000182.5(HADHA):c.703C>T (p.Arg235Trp) variant DOID:0070619 mitochondrial trifunctional protein deficiency 1 IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Mitochondrial trifunctional protein deficiency 1 PMID:19433283|PMID:21549624|PMID:22065858|PMID:25741868|PMID:28492532|PMID:34878152 10042249 CV186667 NM_000182.5(HADHA):c.703C>T (p.Arg235Trp) variant DOID:0111277 mitochondrial trifunctional protein deficiency IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Mitochondrial trifunctional protein deficiency PMID:19433283|PMID:21549624|PMID:22065858|PMID:25741868|PMID:28492532|PMID:34878152 10042250 CV187063 NM_000071.3(CBS):c.233C>G (p.Pro78Arg) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:12686134|PMID:17069888|PMID:17352495|PMID:20308073|PMID:20490928|PMID:20506325|PMID:22267502|PMID:22612060|PMID:22985361|PMID:25331909|PMID:28492532|PMID:7967489|PMID:7981678 10042250 CV187063 NM_000071.3(CBS):c.233C>G (p.Pro78Arg) variant DOID:9263 homocystinuria IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:12686134|PMID:17069888|PMID:17352495|PMID:20308073|PMID:20490928|PMID:20506325|PMID:22267502|PMID:22612060|PMID:22985361|PMID:25331909|PMID:28492532|PMID:7967489|PMID:7981678 10042251 CV187061 NM_000071.3(CBS):c.306G>C (p.Lys102Asn) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10338090|PMID:12686134|PMID:17069888|PMID:17352495|PMID:20490928|PMID:20506325|PMID:22267502|PMID:25331909|PMID:28492532|PMID:7967489|PMID:7981678 10042251 CV187061 NM_000071.3(CBS):c.306G>C (p.Lys102Asn) variant DOID:9263 homocystinuria IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12686134|PMID:17069888|PMID:17352495|PMID:20490928|PMID:20506325|PMID:22267502|PMID:25331909|PMID:28492532|PMID:7967489|PMID:7981678 10042252 CV186602 NM_014625.4(NPHS2):c.948del (p.Ala317fs) variant DOID:0080379 nephrotic syndrome type 2 IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome PMID:14978175|PMID:15015071|PMID:15327385|PMID:17371932|PMID:18216321|PMID:18443213|PMID:23242530|PMID:25741868|PMID:26467025|PMID:28492532 10042253 CV186932 NM_002225.5(IVD):c.1179del (p.Leu394fs) variant DOID:14753 isovaleric acidemia IAGP D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: Isovaleryl-CoA dehydrogenase deficiency PMID:10713113|PMID:2063866|PMID:22960500|PMID:25741868|PMID:28492532 10042254 CV186723 NM_000441.2(SLC26A4):c.84C>A (p.Ser28Arg) variant DOID:0060744 Pendred syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pendred syndrome PMID:11919333|PMID:12676893|PMID:15679828|PMID:16570074|PMID:16791000|PMID:16914891|PMID:18310264|PMID:19040761|PMID:22285650|PMID:24224479|PMID:24341454|PMID:25741868|PMID:28492532|PMID:29739340|PMID:30311386 10042254 CV186723 NM_000441.2(SLC26A4):c.84C>A (p.Ser28Arg) variant DOID:0110498 autosomal recessive nonsyndromic deafness 4 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct PMID:11919333|PMID:12676893|PMID:15679828|PMID:16570074|PMID:16791000|PMID:16914891|PMID:18310264|PMID:19040761|PMID:22285650|PMID:24224479|PMID:24341454|PMID:25741868|PMID:28492532|PMID:29739340|PMID:30311386 10042255 CV186618 NM_000478.6(ALPL):c.667C>T (p.Arg223Trp) variant DOID:0110913 adult hypophosphatasia IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Adult hypophosphatasia PMID:10332035|PMID:11479741|PMID:11760847|PMID:11855933|PMID:12162492|PMID:15694177|PMID:18769927|PMID:20383509|PMID:23454488|PMID:23509830|PMID:24100244|PMID:25741868|PMID:28401263|PMID:28492532|PMID:32160374|PMID:9781036 10042255 CV186618 NM_000478.6(ALPL):c.667C>T (p.Arg223Trp) variant DOID:0110914 infantile hypophosphatasia IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Infantile hypophosphatasia PMID:10332035|PMID:11479741|PMID:11760847|PMID:11855933|PMID:12162492|PMID:15694177|PMID:18769927|PMID:20383509|PMID:23454488|PMID:23509830|PMID:24100244|PMID:25741868|PMID:28401263|PMID:28492532|PMID:32160374|PMID:9781036 10042255 CV186618 NM_000478.6(ALPL):c.667C>T (p.Arg223Trp) variant DOID:14213 hypophosphatasia IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Hypophosphatasia PMID:10332035|PMID:11479741|PMID:11760847|PMID:11855933|PMID:12162492|PMID:15694177|PMID:18769927|PMID:20383509|PMID:23454488|PMID:23509830|PMID:24100244|PMID:25741868|PMID:28401263|PMID:28492532|PMID:32160374|PMID:9781036 10042256 CV186739 NM_000441.2(SLC26A4):c.1920G>A (p.Trp640Ter) variant DOID:0060744 Pendred syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pendred syndrome PMID:16283880|PMID:22412181|PMID:25394566|PMID:25741868|PMID:26252218|PMID:26445815|PMID:28492532 10042256 CV186739 NM_000441.2(SLC26A4):c.1920G>A (p.Trp640Ter) variant DOID:0110498 autosomal recessive nonsyndromic deafness 4 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 4 PMID:16283880|PMID:22412181|PMID:25394566|PMID:25741868|PMID:26252218|PMID:26445815|PMID:28492532 10042257 CV186925 NM_000295.5(SERPINA1):c.745G>C (p.Gly249Arg) variant DOID:13372 alpha 1-antitrypsin deficiency IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Alpha-1-antitrypsin deficiency PMID:19437508|PMID:21474916|PMID:25741868 10042258 CV186620 NM_000478.6(ALPL):c.809G>A (p.Trp270Ter) variant DOID:0110913 adult hypophosphatasia IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Adult hypophosphatasia PMID:10332035|PMID:10679946|PMID:25741868|PMID:28492532|PMID:29236161|PMID:3174660|PMID:32160374|PMID:32973344|PMID:33814268|PMID:9781036 10042258 CV186620 NM_000478.6(ALPL):c.809G>A (p.Trp270Ter) variant DOID:0110914 infantile hypophosphatasia IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Infantile hypophosphatasia PMID:10332035|PMID:10679946|PMID:25741868|PMID:28492532|PMID:29236161|PMID:3174660|PMID:32160374|PMID:32973344|PMID:33814268|PMID:9781036 10042258 CV186620 NM_000478.6(ALPL):c.809G>A (p.Trp270Ter) variant DOID:14213 hypophosphatasia IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hypophosphatasia PMID:10332035|PMID:10679946|PMID:25741868|PMID:28492532|PMID:29236161|PMID:3174660|PMID:32160374|PMID:32973344|PMID:33814268|PMID:9781036 10042259 CV186809 NM_001164277.2(SLC37A4):c.381+1G>A variant DOID:0081330 glycogen storage disease Ib IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:10482962|PMID:10940311|PMID:16199547|PMID:21575371|PMID:28492532|PMID:9758626 10042260 CV186733 NM_000441.2(SLC26A4):c.1001G>T (p.Gly334Val) variant DOID:0050565 autosomal recessive nonsyndromic deafness IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness PMID:16460646|PMID:17576681|PMID:18813951|PMID:22116358|PMID:22116360|PMID:24248179|PMID:25741868|PMID:27771369|PMID:28492532|PMID:28964290|PMID:29372807|PMID:30303587|PMID:31599023|PMID:32747562|PMID:9536098 10042260 CV186733 NM_000441.2(SLC26A4):c.1001G>T (p.Gly334Val) variant DOID:0060744 Pendred syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pendred syndrome PMID:16460646|PMID:17576681|PMID:18813951|PMID:22116358|PMID:22116360|PMID:24248179|PMID:25741868|PMID:27771369|PMID:28492532|PMID:28964290|PMID:29372807|PMID:30303587|PMID:31599023|PMID:32747562|PMID:9536098 10042260 CV186733 NM_000441.2(SLC26A4):c.1001G>T (p.Gly334Val) variant DOID:0110498 autosomal recessive nonsyndromic deafness 4 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct PMID:16460646|PMID:17576681|PMID:18813951|PMID:22116358|PMID:22116360|PMID:24248179|PMID:25741868|PMID:27771369|PMID:28492532|PMID:28964290|PMID:29372807|PMID:30303587|PMID:31599023|PMID:32747562|PMID:9536098 10042260 CV186733 NM_000441.2(SLC26A4):c.1001G>T (p.Gly334Val) variant DOID:9004538 Hearing Loss IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive PMID:16460646|PMID:17576681|PMID:18813951|PMID:22116358|PMID:22116360|PMID:24248179|PMID:25741868|PMID:27771369|PMID:28492532|PMID:28964290|PMID:29372807|PMID:30303587|PMID:31599023|PMID:32747562|PMID:9536098 10042261 CV186800 NM_000051.4(ATM):c.5188C>T (p.Arg1730Ter) variant DOID:10534 stomach cancer IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:10425038|PMID:12673797|PMID:12815592|PMID:16266405|PMID:21445571|PMID:21665257|PMID:21792198|PMID:22213089|PMID:23566627|PMID:23807571|PMID:25525159|PMID:25614872|PMID:25741868|PMID:27664052|PMID:28492532|PMID:28497333|PMID:30287823|PMID:33471991|PMID:36988593 10042261 CV186800 NM_000051.4(ATM):c.5188C>T (p.Arg1730Ter) variant DOID:12704 ataxia telangiectasia IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:10425038|PMID:12673797|PMID:12815592|PMID:16266405|PMID:21445571|PMID:21665257|PMID:21792198|PMID:22213089|PMID:23566627|PMID:23807571|PMID:25525159|PMID:25614872|PMID:25741868|PMID:27664052|PMID:28492532|PMID:28497333|PMID:30287823|PMID:33471991|PMID:36988593 10042261 CV186800 NM_000051.4(ATM):c.5188C>T (p.Arg1730Ter) variant DOID:1612 breast cancer IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:10425038|PMID:12673797|PMID:12815592|PMID:16266405|PMID:21445571|PMID:21665257|PMID:21792198|PMID:22213089|PMID:23566627|PMID:23807571|PMID:25525159|PMID:25614872|PMID:25741868|PMID:27664052|PMID:28492532|PMID:28497333|PMID:30287823|PMID:33471991|PMID:36988593 10042261 CV186800 NM_000051.4(ATM):c.5188C>T (p.Arg1730Ter) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10425038|PMID:12673797|PMID:12815592|PMID:16266405|PMID:21445571|PMID:21665257|PMID:21792198|PMID:22213089|PMID:23566627|PMID:23807571|PMID:25525159|PMID:25614872|PMID:25741868|PMID:27664052|PMID:28492532|PMID:28497333|PMID:30287823|PMID:33471991|PMID:36988593 10042261 CV186800 NM_000051.4(ATM):c.5188C>T (p.Arg1730Ter) variant DOID:9008952 Breast Cancer, Familial IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:10425038|PMID:12673797|PMID:12815592|PMID:16266405|PMID:21445571|PMID:21665257|PMID:21792198|PMID:22213089|PMID:23566627|PMID:23807571|PMID:25525159|PMID:25614872|PMID:25741868|PMID:27664052|PMID:28492532|PMID:28497333|PMID:30287823|PMID:33471991|PMID:36988593 10042261 CV186800 NM_000051.4(ATM):c.5188C>T (p.Arg1730Ter) variant DOID:9009054 Colorectal Cancer 10 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer type X PMID:10425038|PMID:12673797|PMID:12815592|PMID:16266405|PMID:21445571|PMID:21665257|PMID:21792198|PMID:22213089|PMID:23566627|PMID:23807571|PMID:25525159|PMID:25614872|PMID:25741868|PMID:27664052|PMID:28492532|PMID:28497333|PMID:30287823|PMID:33471991|PMID:36988593 10042262 CV186926 NM_000295.5(SERPINA1):c.646+1G>T variant DOID:13372 alpha 1-antitrypsin deficiency IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: AAT deficiency PMID:16199547|PMID:25425243|PMID:25741868|PMID:28492532|PMID:8364536 10042263 CV187072 NM_000487.6(ARSA):c.304del (p.Leu102fs) variant DOID:10581 metachromatic leukodystrophy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy, late infantile PMID:10477432|PMID:26462614|PMID:28492532|PMID:7866401|PMID:8101038|PMID:8962139 10042264 CV187052 NM_000071.3(CBS):c.1358+1G>A variant DOID:9263 homocystinuria IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: CBS deficiency PMID:10338090|PMID:12124992|PMID:16199547|PMID:24211323|PMID:28492532|PMID:9232191 10042265 CV186795 NM_001384140.1(PCDH15):c.3717+1G>A variant DOID:0110481 autosomal recessive nonsyndromic deafness 23 IAGP D RGD:8554872 20250723 ClinVar ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 23 PMID:11398101|PMID:11487575|PMID:14570705|PMID:16199547|PMID:18719945|PMID:22135276|PMID:25741868|PMID:27460420|PMID:28492532|PMID:30054919 10042265 CV186795 NM_001384140.1(PCDH15):c.3717+1G>A variant DOID:0110832 Usher syndrome type 1F IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1F PMID:11398101|PMID:11487575|PMID:14570705|PMID:16199547|PMID:18719945|PMID:22135276|PMID:25741868|PMID:27460420|PMID:28492532|PMID:30054919 10042266 CV187053 NM_000071.3(CBS):c.1316G>A (p.Arg439Gln) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10462600|PMID:12124992|PMID:19429038|PMID:20490928|PMID:20506325|PMID:22069143|PMID:22267502|PMID:22612060|PMID:25331909|PMID:28492532|PMID:9156316 10042266 CV187053 NM_000071.3(CBS):c.1316G>A (p.Arg439Gln) variant DOID:9263 homocystinuria IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10462600|PMID:12124992|PMID:19429038|PMID:20490928|PMID:20506325|PMID:22069143|PMID:22267502|PMID:22612060|PMID:25331909|PMID:28492532|PMID:9156316 10042267 CV186664 NM_000182.5(HADHA):c.1981_1999del (p.Leu661fs) variant DOID:0061186 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency PMID:21103935|PMID:21549624|PMID:22459206|PMID:25741868|PMID:28492532|PMID:32827528|PMID:7738175 10042267 CV186664 NM_000182.5(HADHA):c.1981_1999del (p.Leu661fs) variant DOID:0111277 mitochondrial trifunctional protein deficiency IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Mitochondrial trifunctional protein deficiency PMID:21103935|PMID:21549624|PMID:22459206|PMID:25741868|PMID:28492532|PMID:32827528|PMID:7738175 10042268 CV186622 NM_000478.6(ALPL):c.891C>A (p.Tyr297Ter) variant DOID:0110913 adult hypophosphatasia IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Adult hypophosphatasia PMID:10679946|PMID:20049532|PMID:25525159|PMID:25741868|PMID:26275891|PMID:28492532|PMID:3174660|PMID:32160374|PMID:32973344|PMID:33301960|PMID:33814268|PMID:34662886 10042268 CV186622 NM_000478.6(ALPL):c.891C>A (p.Tyr297Ter) variant DOID:0110914 infantile hypophosphatasia IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Infantile hypophosphatasia PMID:10679946|PMID:20049532|PMID:25525159|PMID:25741868|PMID:26275891|PMID:28492532|PMID:3174660|PMID:32160374|PMID:32973344|PMID:33301960|PMID:33814268|PMID:34662886 10042268 CV186622 NM_000478.6(ALPL):c.891C>A (p.Tyr297Ter) variant DOID:14213 hypophosphatasia IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Hypophosphatasia PMID:10679946|PMID:20049532|PMID:25525159|PMID:25741868|PMID:26275891|PMID:28492532|PMID:3174660|PMID:32160374|PMID:32973344|PMID:33301960|PMID:33814268|PMID:34662886 10042269 CV186804 NM_000051.4(ATM):c.8307G>A (p.Trp2769Ter) variant DOID:12704 ataxia telangiectasia IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:12883528|PMID:20153123|PMID:22649200|PMID:23807571|PMID:25133958|PMID:25525159|PMID:25614872|PMID:25741868|PMID:26786923|PMID:26896183|PMID:27989354|PMID:28125075|PMID:28492532|PMID:28779002|PMID:29478780|PMID:29555025|PMID:29752822|PMID:32338768|PMID:32853339|PMID:33436325|PMID:33471991|PMID:8845835|PMID:9259193 10042269 CV186804 NM_000051.4(ATM):c.8307G>A (p.Trp2769Ter) variant DOID:162 cancer IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: ATM-related cancer predisposition PMID:12883528|PMID:20153123|PMID:22649200|PMID:23807571|PMID:25133958|PMID:25525159|PMID:25614872|PMID:25741868|PMID:26786923|PMID:26896183|PMID:27989354|PMID:28125075|PMID:28492532|PMID:28779002|PMID:29478780|PMID:29555025|PMID:29752822|PMID:32338768|PMID:32853339|PMID:33436325|PMID:33471991|PMID:8845835|PMID:9259193 10042269 CV186804 NM_000051.4(ATM):c.8307G>A (p.Trp2769Ter) variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:12883528|PMID:20153123|PMID:22649200|PMID:23807571|PMID:25133958|PMID:25525159|PMID:25614872|PMID:25741868|PMID:26786923|PMID:26896183|PMID:27989354|PMID:28125075|PMID:28492532|PMID:28779002|PMID:29478780|PMID:29555025|PMID:29752822|PMID:32338768|PMID:32853339|PMID:33436325|PMID:33471991|PMID:8845835|PMID:9259193 10042269 CV186804 NM_000051.4(ATM):c.8307G>A (p.Trp2769Ter) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:12883528|PMID:20153123|PMID:22649200|PMID:23807571|PMID:25133958|PMID:25525159|PMID:25614872|PMID:25741868|PMID:26786923|PMID:26896183|PMID:27989354|PMID:28125075|PMID:28492532|PMID:28779002|PMID:29478780|PMID:29555025|PMID:29752822|PMID:32338768|PMID:32853339|PMID:33436325|PMID:33471991|PMID:8845835|PMID:9259193 10042269 CV186804 NM_000051.4(ATM):c.8307G>A (p.Trp2769Ter) variant DOID:9008952 Breast Cancer, Familial IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:12883528|PMID:20153123|PMID:22649200|PMID:23807571|PMID:25133958|PMID:25525159|PMID:25614872|PMID:25741868|PMID:26786923|PMID:26896183|PMID:27989354|PMID:28125075|PMID:28492532|PMID:28779002|PMID:29478780|PMID:29555025|PMID:29752822|PMID:32338768|PMID:32853339|PMID:33436325|PMID:33471991|PMID:8845835|PMID:9259193 10042270 CV186668 NM_000182.5(HADHA):c.274_278del (p.Ser92fs) variant DOID:0061186 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency PMID:10352164|PMID:12237653|PMID:12809642|PMID:16040264|PMID:21103935|PMID:21549624|PMID:22459206|PMID:25741868|PMID:27491397|PMID:28492532|PMID:7738175 10042270 CV186668 NM_000182.5(HADHA):c.274_278del (p.Ser92fs) variant DOID:0111277 mitochondrial trifunctional protein deficiency IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Mitochondrial trifunctional protein deficiency PMID:10352164|PMID:12237653|PMID:12809642|PMID:16040264|PMID:21103935|PMID:21549624|PMID:22459206|PMID:25741868|PMID:27491397|PMID:28492532|PMID:7738175 10042271 CV186607 NM_014625.4(NPHS2):c.451+2T>A variant DOID:0080379 nephrotic syndrome type 2 IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 2 PMID:10742096|PMID:14701729|PMID:14978175|PMID:15253708|PMID:16199547|PMID:23595123|PMID:24509478|PMID:25741868|PMID:28492532 10042272 CV186805 NM_000051.4(ATM):c.8876_8879del (p.Asp2959fs) variant DOID:12704 ataxia telangiectasia IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:12815592|PMID:23807571|PMID:25479140|PMID:25614872|PMID:25741868|PMID:27664052|PMID:28492532|PMID:33280026 10042272 CV186805 NM_000051.4(ATM):c.8876_8879del (p.Asp2959fs) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:12815592|PMID:23807571|PMID:25479140|PMID:25614872|PMID:25741868|PMID:27664052|PMID:28492532|PMID:33280026 10042272 CV186805 NM_000051.4(ATM):c.8876_8879del (p.Asp2959fs) variant DOID:9008952 Breast Cancer, Familial IAGP D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:12815592|PMID:23807571|PMID:25479140|PMID:25614872|PMID:25741868|PMID:27664052|PMID:28492532|PMID:33280026 10042272 CV186805 NM_000051.4(ATM):c.8876_8879del (p.Asp2959fs) variant DOID:9009054 Colorectal Cancer 10 IAGP D RGD:8554872 20250527 ClinVar ClinVar Annotator: match by term: Familial colorectal cancer type X PMID:12815592|PMID:23807571|PMID:25479140|PMID:25614872|PMID:25741868|PMID:27664052|PMID:28492532|PMID:33280026 10042273 CV186808 NM_001164277.2(SLC37A4):c.652C>T (p.Gln218Ter) variant DOID:0081330 glycogen storage disease Ib IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:10940311|PMID:12373566|PMID:20386986|PMID:25741868|PMID:28492532|PMID:9758626 10042274 CV186730 NM_000441.2(SLC26A4):c.365dup (p.Ile124fs) variant DOID:0060744 Pendred syndrome IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Pendred syndrome PMID:15679828|PMID:16283880|PMID:24051746|PMID:25394566|PMID:25741868|PMID:26252218|PMID:26445815|PMID:28492532 10042274 CV186730 NM_000441.2(SLC26A4):c.365dup (p.Ile124fs) variant DOID:0110498 autosomal recessive nonsyndromic deafness 4 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 4 PMID:15679828|PMID:16283880|PMID:24051746|PMID:25394566|PMID:25741868|PMID:26252218|PMID:26445815|PMID:28492532 10042275 CV186799 NM_000051.4(ATM):c.1524del (p.Gly509fs) variant DOID:12704 ataxia telangiectasia IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:16941484|PMID:17910737|PMID:23454770|PMID:23807571|PMID:25614872|PMID:25741868|PMID:28492532|PMID:30613976|PMID:30963573|PMID:31341520 10042275 CV186799 NM_000051.4(ATM):c.1524del (p.Gly509fs) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:16941484|PMID:17910737|PMID:23454770|PMID:23807571|PMID:25614872|PMID:25741868|PMID:28492532|PMID:30613976|PMID:30963573|PMID:31341520 10042275 CV186799 NM_000051.4(ATM):c.1524del (p.Gly509fs) variant DOID:9008952 Breast Cancer, Familial IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:16941484|PMID:17910737|PMID:23454770|PMID:23807571|PMID:25614872|PMID:25741868|PMID:28492532|PMID:30613976|PMID:30963573|PMID:31341520 10042276 CV186737 NM_000441.2(SLC26A4):c.1586T>G (p.Ile529Ser) variant DOID:0060744 Pendred syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Pendred syndrome PMID:17718863|PMID:21961810|PMID:23151025|PMID:23185506|PMID:23296490|PMID:23918157|PMID:24105851|PMID:24599119|PMID:25741868|PMID:27610647|PMID:28492532|PMID:28786104|PMID:31599023|PMID:34170635 10042276 CV186737 NM_000441.2(SLC26A4):c.1586T>G (p.Ile529Ser) variant DOID:0110498 autosomal recessive nonsyndromic deafness 4 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 4 PMID:17718863|PMID:21961810|PMID:23151025|PMID:23185506|PMID:23296490|PMID:23918157|PMID:24105851|PMID:24599119|PMID:25741868|PMID:27610647|PMID:28492532|PMID:28786104|PMID:31599023|PMID:34170635 10042277 CV186810 NM_001164277.2(SLC37A4):c.1A>G (p.Met1Val) variant DOID:0081330 glycogen storage disease Ib IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Glucose-6-phosphate transport defect PMID:10482962|PMID:12373566|PMID:12444104|PMID:15260472|PMID:28492532 10042278 CV186741 NM_000441.2(SLC26A4):c.2086C>T (p.Gln696Ter) variant DOID:0060744 Pendred syndrome IAGP D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Pendred syndrome PMID:16283880|PMID:21961810|PMID:22289209|PMID:23918157|PMID:24612839|PMID:24913939|PMID:25394566|PMID:25741868|PMID:26252218|PMID:26445815|PMID:28492532 10042278 CV186741 NM_000441.2(SLC26A4):c.2086C>T (p.Gln696Ter) variant DOID:0110498 autosomal recessive nonsyndromic deafness 4 IAGP D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct PMID:16283880|PMID:21961810|PMID:22289209|PMID:23918157|PMID:24612839|PMID:24913939|PMID:25394566|PMID:25741868|PMID:26252218|PMID:26445815|PMID:28492532 10042279 CV186729 NM_000441.2(SLC26A4):c.304+2T>C variant DOID:0060744 Pendred syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pendred syndrome PMID:16199547|PMID:16283880|PMID:19287372|PMID:25394566|PMID:25741868|PMID:26252218|PMID:26445815|PMID:28281779|PMID:28492532 10042279 CV186729 NM_000441.2(SLC26A4):c.304+2T>C variant DOID:0110498 autosomal recessive nonsyndromic deafness 4 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 4 PMID:16199547|PMID:16283880|PMID:19287372|PMID:25394566|PMID:25741868|PMID:26252218|PMID:26445815|PMID:28281779|PMID:28492532 10042280 CV187070 NM_000487.6(ARSA):c.1223_1231del (p.Ser408_Thr410del) variant DOID:10581 metachromatic leukodystrophy IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:12809637|PMID:18786133|PMID:22993277|PMID:23559313|PMID:25741868|PMID:26462614|PMID:27261095|PMID:27289174|PMID:28492532|PMID:37480112|PMID:9490297 10042281 CV186801 NM_000051.4(ATM):c.5515C>T (p.Gln1839Ter) variant DOID:12704 ataxia telangiectasia IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:10873394|PMID:15928302|PMID:22213089|PMID:22649200|PMID:23807571|PMID:25614872|PMID:25741868|PMID:28492532|PMID:28779002|PMID:35365198|PMID:9792409 10042281 CV186801 NM_000051.4(ATM):c.5515C>T (p.Gln1839Ter) variant DOID:162 cancer IAGP D RGD:8554872 20250218 ClinVar ClinVar Annotator: match by term: ATM-related cancer predisposition PMID:10873394|PMID:15928302|PMID:22213089|PMID:22649200|PMID:23807571|PMID:25614872|PMID:25741868|PMID:28492532|PMID:28779002|PMID:35365198|PMID:9792409 10042281 CV186801 NM_000051.4(ATM):c.5515C>T (p.Gln1839Ter) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10873394|PMID:15928302|PMID:22213089|PMID:22649200|PMID:23807571|PMID:25614872|PMID:25741868|PMID:28492532|PMID:28779002|PMID:35365198|PMID:9792409 10042281 CV186801 NM_000051.4(ATM):c.5515C>T (p.Gln1839Ter) variant DOID:9008952 Breast Cancer, Familial IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:10873394|PMID:15928302|PMID:22213089|PMID:22649200|PMID:23807571|PMID:25614872|PMID:25741868|PMID:28492532|PMID:28779002|PMID:35365198|PMID:9792409 10042282 CV187062 NM_000071.3(CBS):c.302T>C (p.Leu101Pro) variant DOID:9263 homocystinuria IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Homocystinuria PMID:12124992|PMID:12686134|PMID:14635102|PMID:17069888|PMID:20066033|PMID:20455263|PMID:22267502|PMID:25741868|PMID:28492532|PMID:9889017 10042283 CV186785 NM_000155.4(GALT):c.775C>T (p.Arg259Trp) variant DOID:9870 galactosemia IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Galactosemia PMID:10408771|PMID:10535394|PMID:11152465|PMID:20008339|PMID:21779791|PMID:22461411|PMID:22944367|PMID:23749220|PMID:25268296|PMID:25741868|PMID:27363831|PMID:28492532|PMID:31194895|PMID:8741038|PMID:8892021|PMID:9396569 10042284 CV171895 NM_006766.5(KAT6A):c.3830_3831insTT (p.Arg1278fs) variant DOID:0070062 Arboleda-Tham syndrome IAGP D RGD:8554872 20240528 ClinVar ClinVar Annotator: match by term: KAT6A-related neurodevelopmental disorder with multiple anomalies PMID:25728777 10042285 CV171893 NM_006766.5(KAT6A):c.4292dup (p.Leu1431fs) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25728777 10042286 CV187180 NM_004917.5(KLK4):c.245del (p.Gly82fs) variant DOID:0110057 amelogenesis imperfecta type 2A1 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type, IIA1 PMID:23355523 10042287 CV187206 NM_005859.5(PURA):c.616A>T (p.Ile206Phe) variant DOID:0070061 autosomal dominant intellectual developmental disorder 31 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:25342064 10042289 CV187213 NM_000335.5(SCN5A):c.1338+2T>A variant DOID:0050451 Brugada syndrome IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:16199547|PMID:20129283|PMID:22090165|PMID:22090166|PMID:22789973|PMID:25741868|PMID:28492532|PMID:33029862|PMID:36007526 10042289 CV187213 NM_000335.5(SCN5A):c.1338+2T>A variant DOID:0110644 long QT syndrome 1 IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:16199547|PMID:20129283|PMID:22090165|PMID:22090166|PMID:22789973|PMID:25741868|PMID:28492532|PMID:33029862|PMID:36007526 10042289 CV187213 NM_000335.5(SCN5A):c.1338+2T>A variant DOID:0110646 long QT syndrome 3 IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Long QT syndrome 3 PMID:16199547|PMID:20129283|PMID:22090165|PMID:22090166|PMID:22789973|PMID:25741868|PMID:28492532|PMID:33029862|PMID:36007526 10042289 CV187213 NM_000335.5(SCN5A):c.1338+2T>A variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome PMID:16199547|PMID:20129283|PMID:22090165|PMID:22090166|PMID:22789973|PMID:25741868|PMID:28492532|PMID:33029862|PMID:36007526 10042289 CV187213 NM_000335.5(SCN5A):c.1338+2T>A variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:16199547|PMID:20129283|PMID:22090165|PMID:22090166|PMID:22789973|PMID:25741868|PMID:28492532|PMID:33029862|PMID:36007526 10042289 CV187213 NM_000335.5(SCN5A):c.1338+2T>A variant DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:16199547|PMID:20129283|PMID:22090165|PMID:22090166|PMID:22789973|PMID:25741868|PMID:28492532|PMID:33029862|PMID:36007526 10042289 CV187213 NM_000335.5(SCN5A):c.1338+2T>A variant DOID:9004730 Romano-Ward Syndrome IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:16199547|PMID:20129283|PMID:22090165|PMID:22090166|PMID:22789973|PMID:25741868|PMID:28492532|PMID:33029862|PMID:36007526 10042290 CV187243 NM_004214.5(FIBP):c.652C>T (p.Gln218Ter) variant DOID:12270 coloboma IAGP D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Congenital ocular coloboma PMID:26660953 10042290 CV187243 NM_004214.5(FIBP):c.652C>T (p.Gln218Ter) variant DOID:9007012 THAUVIN-ROBINET-FAIVRE SYNDROME IAGP D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Thauvin-robinet-faivre syndrome PMID:26660953 10042291 CV172076 NC_012920.1(MT-TA):m.5631G>A variant DOID:699 mitochondrial myopathy IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Mitochondrial Myopathies PMID:25873012|PMID:32906214 10042291 CV172076 NC_012920.1(MT-TA):m.5631G>A variant DOID:700 mitochondrial metabolism disease IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:25873012|PMID:32906214 10042292 CV172075 NC_012920.1(MT-TA):m.5610G>A variant DOID:699 mitochondrial myopathy IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Mitochondrial myopathy PMID:25873012 10042292 CV172075 NC_012920.1(MT-TA):m.5610G>A variant DOID:700 mitochondrial metabolism disease IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:25873012 10042293 CV186292 NM_003119.4(SPG7):c.1672A>T (p.Lys558Ter) variant DOID:0110816 hereditary spastic paraplegia 7 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia Paraplegin type PMID:21623769|PMID:22964162|PMID:24727571|PMID:25741868|PMID:26467025|PMID:26756429|PMID:27217339|PMID:28362824|PMID:28492532|PMID:28812649|PMID:29057857|PMID:30533525|PMID:31345272|PMID:31854126|PMID:32548275 10042293 CV186292 NM_003119.4(SPG7):c.1672A>T (p.Lys558Ter) variant DOID:2476 hereditary spastic paraplegia IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:21623769|PMID:22964162|PMID:24727571|PMID:25741868|PMID:26467025|PMID:26756429|PMID:27217339|PMID:28362824|PMID:28492532|PMID:28812649|PMID:29057857|PMID:30533525|PMID:31345272|PMID:31854126|PMID:32548275 10042293 CV186292 NM_003119.4(SPG7):c.1672A>T (p.Lys558Ter) variant DOID:630 genetic disease IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21623769|PMID:22964162|PMID:24727571|PMID:25741868|PMID:26467025|PMID:26756429|PMID:27217339|PMID:28362824|PMID:28492532|PMID:28812649|PMID:29057857|PMID:30533525|PMID:31345272|PMID:31854126|PMID:32548275 10042293 CV186292 NM_003119.4(SPG7):c.1672A>T (p.Lys558Ter) variant DOID:700 mitochondrial metabolism disease IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: mitochondrial disorder PMID:21623769|PMID:22964162|PMID:24727571|PMID:25741868|PMID:26467025|PMID:26756429|PMID:27217339|PMID:28362824|PMID:28492532|PMID:28812649|PMID:29057857|PMID:30533525|PMID:31345272|PMID:31854126|PMID:32548275 10042295 CV187217 NM_001382289.1(FSHB):c.298T>C (p.Cys100Arg) variant DOID:0090088 hypogonadotropic hypogonadism 24 without anosmia IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Follicle-stimulating hormone deficiency, isolated PMID:20488225|PMID:9806482 10042297 CV187389 NM_000314.8(PTEN):c.1066A>T (p.Asn356Tyr) variant DOID:0050657 Cowden syndrome 1 IAGP D RGD:8554872 20250909 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:25741868|PMID:28492532 10042297 CV187389 NM_000314.8(PTEN):c.1066A>T (p.Asn356Tyr) variant DOID:3070 high grade glioma IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Glioma susceptibility 2 PMID:25741868|PMID:28492532 10042297 CV187389 NM_000314.8(PTEN):c.1066A>T (p.Asn356Tyr) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532 10042298 CV187324 NM_000314.8(PTEN):c.70G>T (p.Asp24Tyr) variant DOID:0050657 Cowden syndrome 1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Cowden syndrome 1 PMID:10232405|PMID:17213812|PMID:23335809 10042299 CV187326 NM_000314.8(PTEN):c.77C>T (p.Thr26Ile) variant DOID:0050657 Cowden syndrome 1 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Cowden syndrome 1 PMID:16773562|PMID:21194675|PMID:21659347|PMID:22595938|PMID:25549896|PMID:25669429|PMID:28492532|PMID:29706350|PMID:29706633 10042299 CV187326 NM_000314.8(PTEN):c.77C>T (p.Thr26Ile) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:16773562|PMID:21194675|PMID:21659347|PMID:22595938|PMID:25549896|PMID:25669429|PMID:28492532|PMID:29706350|PMID:29706633 10042300 CV187330 NM_000314.8(PTEN):c.106G>C (p.Gly36Arg) variant DOID:0050657 Cowden syndrome 1 IAGP D RGD:8554872 20250909 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:10772390|PMID:21828076|PMID:25741868|PMID:28492532 10042300 CV187330 NM_000314.8(PTEN):c.106G>C (p.Gly36Arg) variant DOID:9003816 Macrocephaly IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macrocephaly PMID:10772390|PMID:21828076|PMID:25741868|PMID:28492532 10042301 CV187334 NM_000314.8(PTEN):c.139A>G (p.Arg47Gly) variant DOID:0050657 Cowden syndrome 1 IAGP D RGD:8554872 20250909 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:11494117|PMID:18757403|PMID:20538496|PMID:22005521|PMID:23161105|PMID:25429968|PMID:28188106|PMID:28492532|PMID:29706350|PMID:30212499 10042301 CV187334 NM_000314.8(PTEN):c.139A>G (p.Arg47Gly) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:11494117|PMID:18757403|PMID:20538496|PMID:22005521|PMID:23161105|PMID:25429968|PMID:28188106|PMID:28492532|PMID:29706350|PMID:30212499 10042302 CV187337 NM_000314.8(PTEN):c.182A>G (p.His61Arg) variant DOID:0050657 Cowden syndrome 1 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Cowden syndrome 1 PMID:10866302|PMID:11748304|PMID:18025323|PMID:20600018|PMID:21194675|PMID:21659347|PMID:24778394|PMID:28492532|PMID:28526761|PMID:29706350|PMID:29785012 10042302 CV187337 NM_000314.8(PTEN):c.182A>G (p.His61Arg) variant DOID:9002762 Ovarian Neoplasms IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Ovarian Neoplasms PMID:10866302|PMID:11748304|PMID:18025323|PMID:20600018|PMID:21194675|PMID:21659347|PMID:24778394|PMID:28492532|PMID:28526761|PMID:29706350|PMID:29785012 10042302 CV187337 NM_000314.8(PTEN):c.182A>G (p.His61Arg) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10866302|PMID:11748304|PMID:18025323|PMID:20600018|PMID:21194675|PMID:21659347|PMID:24778394|PMID:28492532|PMID:28526761|PMID:29706350|PMID:29785012 10042303 CV187345 NM_000314.8(PTEN):c.284C>T (p.Pro95Leu) variant DOID:0050657 Cowden syndrome 1 IAGP D RGD:8554872 20250909 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:20600018|PMID:21194675|PMID:21659347|PMID:21828076|PMID:25669429|PMID:27535533|PMID:28492532|PMID:28526761|PMID:29706350|PMID:35227301 10042303 CV187345 NM_000314.8(PTEN):c.284C>T (p.Pro95Leu) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:20600018|PMID:21194675|PMID:21659347|PMID:21828076|PMID:25669429|PMID:27535533|PMID:28492532|PMID:28526761|PMID:29706350|PMID:35227301 10042305 CV187348 NM_000314.8(PTEN):c.320A>G (p.Asp107Gly) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10555148|PMID:24375884|PMID:26418532|PMID:29706350|PMID:29785012 10042306 CV187355 NM_000314.8(PTEN):c.407G>A (p.Cys136Tyr) variant DOID:0050657 Cowden syndrome 1 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Cowden syndrome 1 PMID:10848731|PMID:10866302|PMID:16773562|PMID:20600018|PMID:21194675|PMID:21659347|PMID:23886400|PMID:24778394|PMID:25669429|PMID:28492532|PMID:29706350|PMID:9735393 10042306 CV187355 NM_000314.8(PTEN):c.407G>A (p.Cys136Tyr) variant DOID:11054 urinary bladder cancer IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Malignant tumor of urinary bladder PMID:10848731|PMID:10866302|PMID:16773562|PMID:20600018|PMID:21194675|PMID:21659347|PMID:23886400|PMID:24778394|PMID:25669429|PMID:28492532|PMID:29706350|PMID:9735393 10042306 CV187355 NM_000314.8(PTEN):c.407G>A (p.Cys136Tyr) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10848731|PMID:10866302|PMID:16773562|PMID:20600018|PMID:21194675|PMID:21659347|PMID:23886400|PMID:24778394|PMID:25669429|PMID:28492532|PMID:29706350|PMID:9735393 10042308 CV187301 NC_000010.11:g.87863624A>C variant DOID:0050657 Cowden syndrome 1 IAGP D RGD:8554872 20250909 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome 10042309 CV187359 NM_000314.8(PTEN):c.493-1G>A variant DOID:0050657 Cowden syndrome 1 IAGP D RGD:8554872 20250909 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:16199547|PMID:17526801|PMID:21194675|PMID:25363760|PMID:27824329|PMID:28191890|PMID:28492532|PMID:28677221|PMID:31332282|PMID:36988593|PMID:9467011 10042309 CV187359 NM_000314.8(PTEN):c.493-1G>A variant DOID:10534 stomach cancer IAGP D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:16199547|PMID:17526801|PMID:21194675|PMID:25363760|PMID:27824329|PMID:28191890|PMID:28492532|PMID:28677221|PMID:31332282|PMID:36988593|PMID:9467011 10042309 CV187359 NM_000314.8(PTEN):c.493-1G>A variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:16199547|PMID:17526801|PMID:21194675|PMID:25363760|PMID:27824329|PMID:28191890|PMID:28492532|PMID:28677221|PMID:31332282|PMID:36988593|PMID:9467011 10042310 CV187360 NM_000314.8(PTEN):c.494G>T (p.Gly165Val) variant DOID:0060867 macrocephaly-autism syndrome IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Macrocephaly/autism syndrome PMID:10234502|PMID:21798997|PMID:25741868 10042311 CV187361 NM_000314.8(PTEN):c.511C>T (p.Gln171Ter) variant DOID:0050657 Cowden syndrome 1 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Cowden syndrome 1 PMID:17043057|PMID:21194675|PMID:22595938|PMID:25669429|PMID:25741868|PMID:27535533|PMID:28492532|PMID:29706350|PMID:30443844|PMID:9467011 10042311 CV187361 NM_000314.8(PTEN):c.511C>T (p.Gln171Ter) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:17043057|PMID:21194675|PMID:22595938|PMID:25669429|PMID:25741868|PMID:27535533|PMID:28492532|PMID:29706350|PMID:30443844|PMID:9467011 10042312 CV187362 NM_000314.8(PTEN):c.512A>G (p.Gln171Arg) variant DOID:0050657 Cowden syndrome 1 IAGP D RGD:8554872 20250909 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:22970944|PMID:25741868|PMID:28492532|PMID:29706350|PMID:29785012|PMID:34943931|PMID:35227301|PMID:38546160 10042312 CV187362 NM_000314.8(PTEN):c.512A>G (p.Gln171Arg) variant DOID:0060867 macrocephaly-autism syndrome IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Macrocephaly-autism syndrome PMID:22970944|PMID:25741868|PMID:28492532|PMID:29706350|PMID:29785012|PMID:34943931|PMID:35227301|PMID:38546160 10042312 CV187362 NM_000314.8(PTEN):c.512A>G (p.Gln171Arg) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:22970944|PMID:25741868|PMID:28492532|PMID:29706350|PMID:29785012|PMID:34943931|PMID:35227301|PMID:38546160 10042313 CV187364 NM_000314.8(PTEN):c.533A>G (p.Tyr178Cys) variant DOID:0050657 Cowden syndrome 1 IAGP D RGD:8554872 20250909 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:20301661|PMID:25741868|PMID:26633542|PMID:28492532|PMID:29785012|PMID:32442409 10042314 CV187368 NM_000314.8(PTEN):c.599T>C (p.Phe200Ser) variant DOID:0050657 Cowden syndrome 1 IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cowden syndrome 1 PMID:21659347|PMID:28492532 10042315 CV187370 NM_000314.8(PTEN):c.610C>G (p.Pro204Ala) variant DOID:0050657 Cowden syndrome 1 IAGP D RGD:8554872 20250909 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:28492532|PMID:29706350|PMID:29785012|PMID:31594918|PMID:33801456 10042315 CV187370 NM_000314.8(PTEN):c.610C>G (p.Pro204Ala) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:28492532|PMID:29706350|PMID:29785012|PMID:31594918|PMID:33801456 10042318 CV187372 NM_000314.8(PTEN):c.716T>G (p.Met239Arg) variant DOID:0050657 Cowden syndrome 1 IAGP D RGD:8554872 20250909 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:21194675|PMID:25669429|PMID:28475857|PMID:28492532 10042318 CV187372 NM_000314.8(PTEN):c.716T>G (p.Met239Arg) variant DOID:630 genetic disease IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21194675|PMID:25669429|PMID:28475857|PMID:28492532 10042319 CV187376 NM_000314.8(PTEN):c.793C>G (p.Leu265Val) variant DOID:0050657 Cowden syndrome 1 IAGP D RGD:8554872 20250909 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:28492532 10042320 CV187377 NM_000314.8(PTEN):c.801+1G>A variant DOID:0050657 Cowden syndrome 1 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Cowden syndrome 1 PMID:10234502|PMID:11071384|PMID:11238682|PMID:28492532|PMID:9600246 10042322 CV187380 NM_000314.8(PTEN):c.821G>A (p.Trp274Ter) variant DOID:0050657 Cowden syndrome 1 IAGP D RGD:8554872 20250909 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:21194675|PMID:21659347|PMID:25549896|PMID:28492532|PMID:9467011 10042322 CV187380 NM_000314.8(PTEN):c.821G>A (p.Trp274Ter) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:21194675|PMID:21659347|PMID:25549896|PMID:28492532|PMID:9467011 10042323 CV187383 NM_000314.8(PTEN):c.919G>T (p.Glu307Ter) variant DOID:0050657 Cowden syndrome 1 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Cowden syndrome 1 PMID:25741868 10042324 CV187390 NM_000314.8(PTEN):c.*10del variant DOID:0050657 Cowden syndrome 1 IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Cowden syndrome 1 PMID:25741868|PMID:26467025|PMID:34268892 10042324 CV187390 NM_000314.8(PTEN):c.*10del variant DOID:0060867 macrocephaly-autism syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Macrocephaly-autism syndrome PMID:25741868|PMID:26467025|PMID:34268892 10042324 CV187390 NM_000314.8(PTEN):c.*10del variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer PMID:25741868|PMID:26467025|PMID:34268892 10042324 CV187390 NM_000314.8(PTEN):c.*10del variant DOID:9005539 Familial Prostate Cancer IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Familial prostate cancer PMID:25741868|PMID:26467025|PMID:34268892 10042324 CV187390 NM_000314.8(PTEN):c.*10del variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:26467025|PMID:34268892 10042326 CV187351 NM_000314.8(PTEN):c.360A>C (p.Ala120=) variant DOID:0050657 Cowden syndrome 1 IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Cowden syndrome 1 PMID:25741868|PMID:28492532 10042326 CV187351 NM_000314.8(PTEN):c.360A>C (p.Ala120=) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20180306 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532 10042328 CV187316 NM_000314.8(PTEN):c.-663_-652del variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome 10042330 CV187321 NM_000314.8(PTEN):c.21_37del (p.Ile8fs) variant DOID:0050657 Cowden syndrome 1 IAGP D RGD:8554872 20250909 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:21194675|PMID:28492532|PMID:9467011 10042330 CV187321 NM_000314.8(PTEN):c.21_37del (p.Ile8fs) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:21194675|PMID:28492532|PMID:9467011 10042331 CV187322 NM_000314.8(PTEN):c.46dup (p.Tyr16fs) variant DOID:0050657 Cowden syndrome 1 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Cowden syndrome 1 10042331 CV187322 NM_000314.8(PTEN):c.46dup (p.Tyr16fs) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome 10042332 CV187382 NM_000314.8(PTEN):c.892del (p.Gln298fs) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome 10042333 CV187281 NM_001126049.2(KLLN):c.-794_-783del variant DOID:0050657 Cowden syndrome 1 IAGP D RGD:8554872 20250909 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:21194675|PMID:21532617|PMID:21956414|PMID:25669429|PMID:25741868|PMID:26467025|PMID:28492532 10042333 CV187281 NM_001126049.2(KLLN):c.-794_-783del variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:21194675|PMID:21532617|PMID:21956414|PMID:25669429|PMID:25741868|PMID:26467025|PMID:28492532 10042334 CV187282 NM_000314.4(PTEN):c.-1135_-1134insT variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome 10042335 CV187285 NM_000314.6(PTEN):c.-1088_-1063del26 variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:12844284|PMID:25741868|PMID:26467025 10042337 CV187298 NM_000314.6(PTEN):c.-868_-846dup variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome 10042339 CV187307 NM_000314.8(PTEN):c.-734dup variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome 10042340 CV187385 NM_000314.8(PTEN):c.955dup (p.Thr319fs) variant DOID:0050657 Cowden syndrome 1 IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Cowden syndrome 1 PMID:17526801|PMID:20301661|PMID:25741868|PMID:26681312|PMID:28492532|PMID:32959437 10042341 CV187386 NM_000314.8(PTEN):c.987_990del (p.Asn329fs) variant DOID:0050657 Cowden syndrome 1 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Cowden syndrome 1 PMID:10232405|PMID:10400993|PMID:10468583|PMID:10698513|PMID:10866658|PMID:11035045|PMID:12297295|PMID:24905788|PMID:25336918|PMID:25448482|PMID:26082588|PMID:28492532|PMID:29282348 10042341 CV187386 NM_000314.8(PTEN):c.987_990del (p.Asn329fs) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10232405|PMID:10400993|PMID:10468583|PMID:10698513|PMID:10866658|PMID:11035045|PMID:12297295|PMID:24905788|PMID:25336918|PMID:25448482|PMID:26082588|PMID:28492532|PMID:29282348 10042342 CV187329 NM_000314.8(PTEN):c.85_88del (p.Tyr29fs) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome 10042343 CV187331 NM_000314.8(PTEN):c.117del (p.Glu40fs) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome 10042344 CV187332 NM_000314.8(PTEN):c.126_128dup (p.Leu42_Glu43insAsp) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome 10042345 CV187277 NM_000314.4(PTEN):c.-1248dup variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:26467025 10042346 CV187340 NM_000314.8(PTEN):c.219_222dup (p.His75fs) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome 10042347 CV187349 NM_000314.8(PTEN):c.321del (p.Asp109fs) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome 10042348 CV187358 NM_000314.8(PTEN):c.491del (p.Lys164fs) variant DOID:0050657 Cowden syndrome 1 IAGP D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Cowden syndrome 1 PMID:11918710|PMID:17392703|PMID:20962022|PMID:21194675|PMID:21956414|PMID:22266152|PMID:24345843|PMID:24778394|PMID:25741868|PMID:26787237|PMID:27477328|PMID:28492532|PMID:9467011 10042348 CV187358 NM_000314.8(PTEN):c.491del (p.Lys164fs) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:11918710|PMID:17392703|PMID:20962022|PMID:21194675|PMID:21956414|PMID:22266152|PMID:24345843|PMID:24778394|PMID:25741868|PMID:26787237|PMID:27477328|PMID:28492532|PMID:9467011 10042349 CV187367 NM_000314.8(PTEN):c.585del (p.His196fs) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome 10042350 CV187373 NM_000314.8(PTEN):c.739_740insAT (p.Leu247fs) variant DOID:0050657 Cowden syndrome 1 IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cowden syndrome 1 PMID:25741868 10042350 CV187373 NM_000314.8(PTEN):c.739_740insAT (p.Leu247fs) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868 10042351 CV187374 NM_000314.8(PTEN):c.758_761del (p.Ile253fs) variant DOID:0050657 Cowden syndrome 1 IAGP D RGD:8554872 20250909 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:21194675|PMID:28492532|PMID:9467011 10042351 CV187374 NM_000314.8(PTEN):c.758_761del (p.Ile253fs) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:21194675|PMID:28492532|PMID:9467011 10042352 CV187375 NM_000314.8(PTEN):c.771_772del (p.Phe258fs) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome 10042353 CV187381 NM_000314.8(PTEN):c.875dup (p.Asn292fs) variant DOID:0050657 Cowden syndrome 1 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Cowden syndrome 1 PMID:21194675|PMID:25741868|PMID:28492532|PMID:9467011 10042353 CV187381 NM_000314.8(PTEN):c.875dup (p.Asn292fs) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:21194675|PMID:25741868|PMID:28492532|PMID:9467011 10042354 CV187384 NM_000314.8(PTEN):c.928_929insGTGCA (p.Asp310fs) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome 10042358 CV187323 NM_000314.8(PTEN):c.49C>T (p.Gln17Ter) variant DOID:0050657 Cowden syndrome 1 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Cowden syndrome 1 PMID:21194675|PMID:21659347|PMID:22266152|PMID:25669429|PMID:25741868|PMID:28492532|PMID:29785012|PMID:9467011 10042358 CV187323 NM_000314.8(PTEN):c.49C>T (p.Gln17Ter) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:21194675|PMID:21659347|PMID:22266152|PMID:25669429|PMID:25741868|PMID:28492532|PMID:29785012|PMID:9467011 10042359 CV187327 NM_000314.8(PTEN):c.79T>A (p.Tyr27Asn) variant DOID:0050657 Cowden syndrome 1 IAGP D RGD:8554872 20250909 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:24778394|PMID:28492532|PMID:29625052|PMID:29706350|PMID:29706633|PMID:36451132|PMID:37692099 10042359 CV187327 NM_000314.8(PTEN):c.79T>A (p.Tyr27Asn) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:24778394|PMID:28492532|PMID:29625052|PMID:29706350|PMID:29706633|PMID:36451132|PMID:37692099 10042360 CV187325 NM_000314.8(PTEN):c.74T>C (p.Leu25Ser) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:21194675|PMID:30528446|PMID:35780606 10042362 CV187328 NM_000314.8(PTEN):c.80-1G>C variant DOID:0050657 Cowden syndrome 1 IAGP D RGD:8554872 20250909 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:16199547|PMID:21194675|PMID:28492532|PMID:9467011 10042363 CV187333 NM_000314.8(PTEN):c.137A>G (p.Tyr46Cys) variant DOID:0050657 Cowden syndrome 1 IAGP D RGD:8554872 20250909 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:28492532 10042364 CV187335 NM_000314.8(PTEN):c.160G>A (p.Val54Ile) variant DOID:0050657 Cowden syndrome 1 IAGP D RGD:8554872 20250909 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:25741868|PMID:26467025|PMID:28492532|PMID:29706350|PMID:29785012|PMID:30311380|PMID:34793697|PMID:38645101 10042364 CV187335 NM_000314.8(PTEN):c.160G>A (p.Val54Ile) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:26467025|PMID:28492532|PMID:29706350|PMID:29785012|PMID:30311380|PMID:34793697|PMID:38645101 10042370 CV187287 NM_001126049.2(KLLN):c.-938A>T variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868 10042371 CV187338 NM_000314.8(PTEN):c.202T>C (p.Tyr68His) variant DOID:0050657 Cowden syndrome 1 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cowden syndrome 1 PMID:10866302|PMID:11156408|PMID:19457929|PMID:20926450|PMID:21956414|PMID:24778394|PMID:25288137|PMID:25669429|PMID:25722288|PMID:25741868|PMID:26246517|PMID:28492532|PMID:29663862|PMID:29706350|PMID:29785012|PMID:29970488|PMID:31006514|PMID:9467011|PMID:9600246 10042371 CV187338 NM_000314.8(PTEN):c.202T>C (p.Tyr68His) variant DOID:0060867 macrocephaly-autism syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Macrocephaly-autism syndrome PMID:10866302|PMID:11156408|PMID:19457929|PMID:20926450|PMID:21956414|PMID:24778394|PMID:25288137|PMID:25669429|PMID:25722288|PMID:25741868|PMID:26246517|PMID:28492532|PMID:29663862|PMID:29706350|PMID:29785012|PMID:29970488|PMID:31006514|PMID:9467011|PMID:9600246 10042371 CV187338 NM_000314.8(PTEN):c.202T>C (p.Tyr68His) variant DOID:3070 high grade glioma IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Glioma susceptibility 2 PMID:10866302|PMID:11156408|PMID:19457929|PMID:20926450|PMID:21956414|PMID:24778394|PMID:25288137|PMID:25669429|PMID:25722288|PMID:25741868|PMID:26246517|PMID:28492532|PMID:29663862|PMID:29706350|PMID:29785012|PMID:29970488|PMID:31006514|PMID:9467011|PMID:9600246 10042371 CV187338 NM_000314.8(PTEN):c.202T>C (p.Tyr68His) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10866302|PMID:11156408|PMID:19457929|PMID:20926450|PMID:21956414|PMID:24778394|PMID:25288137|PMID:25669429|PMID:25722288|PMID:25741868|PMID:26246517|PMID:28492532|PMID:29663862|PMID:29706350|PMID:29785012|PMID:29970488|PMID:31006514|PMID:9467011|PMID:9600246 10042372 CV187342 NM_000314.8(PTEN):c.253+1G>T variant DOID:0050657 Cowden syndrome 1 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Cowden syndrome 1 PMID:17873119|PMID:23335809|PMID:26681312|PMID:28492532|PMID:28677221|PMID:9259288 10042372 CV187342 NM_000314.8(PTEN):c.253+1G>T variant DOID:0060867 macrocephaly-autism syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Macrocephaly-autism syndrome PMID:17873119|PMID:23335809|PMID:26681312|PMID:28492532|PMID:28677221|PMID:9259288 10042372 CV187342 NM_000314.8(PTEN):c.253+1G>T variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17873119|PMID:23335809|PMID:26681312|PMID:28492532|PMID:28677221|PMID:9259288 10042373 CV187339 NM_000314.8(PTEN):c.206A>G (p.Asn69Ser) variant DOID:0050657 Cowden syndrome 1 IAGP D RGD:8554872 20250909 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:25741868|PMID:26467025|PMID:28492532|PMID:29706350|PMID:29785012|PMID:30311380|PMID:34793697|PMID:38645101 10042373 CV187339 NM_000314.8(PTEN):c.206A>G (p.Asn69Ser) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:26467025|PMID:28492532|PMID:29706350|PMID:29785012|PMID:30311380|PMID:34793697|PMID:38645101 10042377 CV187343 NM_000314.8(PTEN):c.254-2A>G variant DOID:0050657 Cowden syndrome 1 IAGP D RGD:8554872 20250909 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:26681312 10042377 CV187343 NM_000314.8(PTEN):c.254-2A>G variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:26681312 10042378 CV187344 NM_000314.8(PTEN):c.277C>G (p.His93Asp) variant DOID:0050657 Cowden syndrome 1 IAGP D RGD:8554872 20250909 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:15805158|PMID:20718038|PMID:21828076|PMID:24345843|PMID:25647146|PMID:26579216|PMID:28492532 10042379 CV187346 NM_000314.8(PTEN):c.289C>T (p.Gln97Ter) variant DOID:0050657 Cowden syndrome 1 IAGP D RGD:8554872 20250909 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:10234502|PMID:21194675|PMID:25741868|PMID:28492532|PMID:29706350|PMID:9467011 10042379 CV187346 NM_000314.8(PTEN):c.289C>T (p.Gln97Ter) variant DOID:0060867 macrocephaly-autism syndrome IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Macrocephaly-autism syndrome PMID:10234502|PMID:21194675|PMID:25741868|PMID:28492532|PMID:29706350|PMID:9467011 10042379 CV187346 NM_000314.8(PTEN):c.289C>T (p.Gln97Ter) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10234502|PMID:21194675|PMID:25741868|PMID:28492532|PMID:29706350|PMID:9467011 10042380 CV187353 NM_000314.8(PTEN):c.385G>A (p.Gly129Arg) variant DOID:0050657 Cowden syndrome 1 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Cowden syndrome 1 PMID:10866302|PMID:17928923|PMID:21659347|PMID:22469695|PMID:24766807|PMID:25527629|PMID:28492532|PMID:30327747|PMID:9140396|PMID:9256433 10042380 CV187353 NM_000314.8(PTEN):c.385G>A (p.Gly129Arg) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10866302|PMID:17928923|PMID:21659347|PMID:22469695|PMID:24766807|PMID:25527629|PMID:28492532|PMID:30327747|PMID:9140396|PMID:9256433 10042382 CV187352 NM_000314.8(PTEN):c.367C>T (p.His123Tyr) variant DOID:0050657 Cowden syndrome 1 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Cowden syndrome 1 PMID:10234502|PMID:10555148|PMID:10772829|PMID:11448956|PMID:11918710|PMID:16619501|PMID:21475810|PMID:21828076|PMID:22005521|PMID:25741868|PMID:26467025|PMID:26572169|PMID:26681312|PMID:27481051|PMID:28492532|PMID:33471991|PMID:9256433|PMID:9259288 10042384 CV187356 NM_000314.8(PTEN):c.437T>A (p.Leu146Ter) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome 10042385 CV187357 NM_000314.8(PTEN):c.448G>T (p.Glu150Ter) variant DOID:0050657 Cowden syndrome 1 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Cowden syndrome 1 PMID:21194675|PMID:28492532|PMID:9467011 10042385 CV187357 NM_000314.8(PTEN):c.448G>T (p.Glu150Ter) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:21194675|PMID:28492532|PMID:9467011 10042386 CV187291 NM_000314.6(PTEN):c.-942G>A variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome 10042388 CV187293 NM_000314.8(PTEN):c.-921G>A variant DOID:0050657 Cowden syndrome 1 IAGP D RGD:8554872 20250909 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:27720647|PMID:35264596 10042388 CV187293 NM_000314.8(PTEN):c.-921G>A variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:27720647|PMID:35264596 10042393 CV187302 NM_000314.8(PTEN):c.-837C>T variant DOID:0050657 Cowden syndrome 1 IAGP D RGD:8554872 20250909 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:25669429 10042396 CV187363 NM_000314.8(PTEN):c.517C>T (p.Arg173Cys) variant DOID:0050657 Cowden syndrome 1 IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Cowden syndrome 1 PMID:10866302|PMID:17526800|PMID:17526801|PMID:21194675|PMID:22628360|PMID:24778394|PMID:25157968|PMID:25669429|PMID:25741868|PMID:26467025|PMID:28475857|PMID:28492532|PMID:28526761|PMID:29874181|PMID:35931053 10042396 CV187363 NM_000314.8(PTEN):c.517C>T (p.Arg173Cys) variant DOID:0050745 diffuse large B-cell lymphoma IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Diffuse large B cell lymphoma PMID:10866302|PMID:17526800|PMID:17526801|PMID:21194675|PMID:22628360|PMID:24778394|PMID:25157968|PMID:25669429|PMID:25741868|PMID:26467025|PMID:28475857|PMID:28492532|PMID:28526761|PMID:29874181|PMID:35931053 10042396 CV187363 NM_000314.8(PTEN):c.517C>T (p.Arg173Cys) variant DOID:0060867 macrocephaly-autism syndrome IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Macrocephaly/autism syndrome PMID:10866302|PMID:17526800|PMID:17526801|PMID:21194675|PMID:22628360|PMID:24778394|PMID:25157968|PMID:25669429|PMID:25741868|PMID:26467025|PMID:28475857|PMID:28492532|PMID:28526761|PMID:29874181|PMID:35931053 10042396 CV187363 NM_000314.8(PTEN):c.517C>T (p.Arg173Cys) variant DOID:0111766 X-linked VACTERL association IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: VACTERL-H PMID:10866302|PMID:17526800|PMID:17526801|PMID:21194675|PMID:22628360|PMID:24778394|PMID:25157968|PMID:25669429|PMID:25741868|PMID:26467025|PMID:28475857|PMID:28492532|PMID:28526761|PMID:29874181|PMID:35931053 10042396 CV187363 NM_000314.8(PTEN):c.517C>T (p.Arg173Cys) variant DOID:10283 prostate cancer IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Prostate cancer PMID:10866302|PMID:17526800|PMID:17526801|PMID:21194675|PMID:22628360|PMID:24778394|PMID:25157968|PMID:25669429|PMID:25741868|PMID:26467025|PMID:28475857|PMID:28492532|PMID:28526761|PMID:29874181|PMID:35931053 10042396 CV187363 NM_000314.8(PTEN):c.517C>T (p.Arg173Cys) variant DOID:3070 high grade glioma IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Glioma susceptibility 2 PMID:10866302|PMID:17526800|PMID:17526801|PMID:21194675|PMID:22628360|PMID:24778394|PMID:25157968|PMID:25669429|PMID:25741868|PMID:26467025|PMID:28475857|PMID:28492532|PMID:28526761|PMID:29874181|PMID:35931053 10042396 CV187363 NM_000314.8(PTEN):c.517C>T (p.Arg173Cys) variant DOID:4586 familial meningioma IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Meningioma, familial, susceptibility to PMID:10866302|PMID:17526800|PMID:17526801|PMID:21194675|PMID:22628360|PMID:24778394|PMID:25157968|PMID:25669429|PMID:25741868|PMID:26467025|PMID:28475857|PMID:28492532|PMID:28526761|PMID:29874181|PMID:35931053 10042396 CV187363 NM_000314.8(PTEN):c.517C>T (p.Arg173Cys) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10866302|PMID:17526800|PMID:17526801|PMID:21194675|PMID:22628360|PMID:24778394|PMID:25157968|PMID:25669429|PMID:25741868|PMID:26467025|PMID:28475857|PMID:28492532|PMID:28526761|PMID:29874181|PMID:35931053 10042397 CV187366 NM_000314.8(PTEN):c.560A>G (p.Asp187Gly) variant DOID:0050657 Cowden syndrome 1 IAGP D RGD:8554872 20250909 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:28492532 10042397 CV187366 NM_000314.8(PTEN):c.560A>G (p.Asp187Gly) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:28492532 10042398 CV187369 NM_000314.8(PTEN):c.604A>T (p.Thr202Ser) variant DOID:0050657 Cowden syndrome 1 IAGP D RGD:8554872 20250909 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:28492532|PMID:29706350|PMID:29785012 10042398 CV187369 NM_000314.8(PTEN):c.604A>T (p.Thr202Ser) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:28492532|PMID:29706350|PMID:29785012 10042400 CV187371 NM_000314.8(PTEN):c.672A>G (p.Ile224Met) variant DOID:0050657 Cowden syndrome 1 IAGP D RGD:8554872 20250909 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:25741868|PMID:28492532 10042402 CV187379 NM_000314.8(PTEN):c.802-2A>G variant DOID:0050657 Cowden syndrome 1 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Cowden syndrome 1 PMID:16199547|PMID:21194675|PMID:25741868|PMID:27477328|PMID:28013114|PMID:28492532|PMID:28677221|PMID:35534676|PMID:9467011 10042402 CV187379 NM_000314.8(PTEN):c.802-2A>G variant DOID:6457 Cowden syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Cowden syndrome PMID:16199547|PMID:21194675|PMID:25741868|PMID:27477328|PMID:28013114|PMID:28492532|PMID:28677221|PMID:35534676|PMID:9467011 10042402 CV187379 NM_000314.8(PTEN):c.802-2A>G variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:16199547|PMID:21194675|PMID:25741868|PMID:27477328|PMID:28013114|PMID:28492532|PMID:28677221|PMID:35534676|PMID:9467011 10042403 CV187387 NM_000314.8(PTEN):c.1018A>C (p.Asn340His) variant DOID:0050657 Cowden syndrome 1 IAGP D RGD:8554872 20250909 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:25741868|PMID:28492532|PMID:30311380|PMID:32350270|PMID:34793697|PMID:38645101 10042403 CV187387 NM_000314.8(PTEN):c.1018A>C (p.Asn340His) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532|PMID:30311380|PMID:32350270|PMID:34793697|PMID:38645101 10042404 CV187388 NM_000314.8(PTEN):c.1026+1G>C variant DOID:0050657 Cowden syndrome 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cowden syndrome 1 PMID:17576681|PMID:20600018|PMID:21194675|PMID:25669429|PMID:28475857|PMID:28492532|PMID:28677221|PMID:31664961|PMID:9536098 10042404 CV187388 NM_000314.8(PTEN):c.1026+1G>C variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17576681|PMID:20600018|PMID:21194675|PMID:25669429|PMID:28475857|PMID:28492532|PMID:28677221|PMID:31664961|PMID:9536098 10042406 CV186277 NM_000546.6(TP53):c.589G>A (p.Val197Met) variant DOID:0111503 Li-Fraumeni syndrome 1 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome 1 PMID:12826609|PMID:16494995|PMID:21343334|PMID:23259501|PMID:25741868|PMID:28492532|PMID:29979965|PMID:30224644|PMID:31321604|PMID:33818021 10042406 CV186277 NM_000546.6(TP53):c.589G>A (p.Val197Met) variant DOID:3012 Li-Fraumeni syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:12826609|PMID:16494995|PMID:21343334|PMID:23259501|PMID:25741868|PMID:28492532|PMID:29979965|PMID:30224644|PMID:31321604|PMID:33818021 10042406 CV186277 NM_000546.6(TP53):c.589G>A (p.Val197Met) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:12826609|PMID:16494995|PMID:21343334|PMID:23259501|PMID:25741868|PMID:28492532|PMID:29979965|PMID:30224644|PMID:31321604|PMID:33818021 10042407 CV186284 NM_021175.4(HAMP):c.216C>A (p.Cys72Ter) variant DOID:2352 hemochromatosis IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary hemochromatosis PMID:28492532 10042408 CV186274 NM_000546.6(TP53):c.831_848dup (p.Pro278_Arg283dup) variant DOID:3012 Li-Fraumeni syndrome IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:10864200|PMID:11370630|PMID:15173255|PMID:17606709|PMID:21343334|PMID:28492532|PMID:8276238|PMID:8688334 10042409 CV186273 NM_000546.6(TP53):c.1087A>G (p.Arg363Gly) variant DOID:0111503 Li-Fraumeni syndrome 1 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome 1 PMID:25741868|PMID:28492532|PMID:33300245|PMID:34793697|PMID:38645101 10042409 CV186273 NM_000546.6(TP53):c.1087A>G (p.Arg363Gly) variant DOID:3012 Li-Fraumeni syndrome IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:25741868|PMID:28492532|PMID:33300245|PMID:34793697|PMID:38645101 10042409 CV186273 NM_000546.6(TP53):c.1087A>G (p.Arg363Gly) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532|PMID:33300245|PMID:34793697|PMID:38645101 10042410 CV186057 NM_003227.4(TFR2):c.2033G>C (p.Arg678Pro) variant DOID:0111030 hemochromatosis type 3 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hemochromatosis type 3 PMID:23600741|PMID:25741868|PMID:26408288|PMID:28492532 10042410 CV186057 NM_003227.4(TFR2):c.2033G>C (p.Arg678Pro) variant DOID:2352 hemochromatosis IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hereditary hemochromatosis PMID:23600741|PMID:25741868|PMID:26408288|PMID:28492532 10042411 CV186276 NM_000546.6(TP53):c.703A>T (p.Asn235Tyr) variant DOID:3012 Li-Fraumeni syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:21343334|PMID:28492532 10042412 CV186058 NM_003227.4(TFR2):c.829G>T (p.Val277Leu) variant DOID:0111030 hemochromatosis type 3 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Hemochromatosis type 3 PMID:25741868|PMID:28492532 10042412 CV186058 NM_003227.4(TFR2):c.829G>T (p.Val277Leu) variant DOID:2352 hemochromatosis IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Hereditary hemochromatosis PMID:25741868|PMID:28492532 10042413 CV186272 NM_000546.6(TP53):c.1102C>T (p.His368Tyr) variant DOID:3012 Li-Fraumeni syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:12826609|PMID:25741868|PMID:28492532|PMID:30224644|PMID:33471991 10042413 CV186272 NM_000546.6(TP53):c.1102C>T (p.His368Tyr) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:12826609|PMID:25741868|PMID:28492532|PMID:30224644|PMID:33471991 10042414 CV186275 NM_000546.6(TP53):c.776A>G (p.Asp259Gly) variant DOID:0111503 Li-Fraumeni syndrome 1 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome 1 PMID:12826609|PMID:15580553|PMID:21232794|PMID:25741868|PMID:28492532|PMID:29979965|PMID:30224644 10042414 CV186275 NM_000546.6(TP53):c.776A>G (p.Asp259Gly) variant DOID:3012 Li-Fraumeni syndrome IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:12826609|PMID:15580553|PMID:21232794|PMID:25741868|PMID:28492532|PMID:29979965|PMID:30224644 10042414 CV186275 NM_000546.6(TP53):c.776A>G (p.Asp259Gly) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:12826609|PMID:15580553|PMID:21232794|PMID:25741868|PMID:28492532|PMID:29979965|PMID:30224644 10042415 CV186170 NM_000059.4(BRCA2):c.3071T>C (p.Ile1024Thr) variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:28492532|PMID:31911673|PMID:33471991 10042415 CV186170 NM_000059.4(BRCA2):c.3071T>C (p.Ile1024Thr) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532|PMID:31911673|PMID:33471991 10042416 CV186116 NM_020975.6(RET):c.548G>A (p.Gly183Asp) variant DOID:0050430 multiple endocrine neoplasia type 2A IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2 PMID:25741868|PMID:28492532|PMID:35534704 10042416 CV186116 NM_020975.6(RET):c.548G>A (p.Gly183Asp) variant DOID:10487 Hirschsprung's disease IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:25741868|PMID:28492532|PMID:35534704 10042416 CV186116 NM_020975.6(RET):c.548G>A (p.Gly183Asp) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532|PMID:35534704 10042417 CV186259 NM_007294.4(BRCA1):c.1925A>G (p.Asp642Gly) variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:28492532|PMID:31911673 10042417 CV186259 NM_007294.4(BRCA1):c.1925A>G (p.Asp642Gly) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532|PMID:31911673 10042418 CV186117 NM_020975.6(RET):c.972G>C (p.Trp324Cys) variant DOID:0050430 multiple endocrine neoplasia type 2A IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2 PMID:11955539|PMID:15956201|PMID:16732321|PMID:25741868|PMID:26467025|PMID:28492532|PMID:8114938 10042418 CV186117 NM_020975.6(RET):c.972G>C (p.Trp324Cys) variant DOID:0050771 pheochromocytoma IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Pheochromocytoma PMID:11955539|PMID:15956201|PMID:16732321|PMID:25741868|PMID:26467025|PMID:28492532|PMID:8114938 10042418 CV186117 NM_020975.6(RET):c.972G>C (p.Trp324Cys) variant DOID:10016 multiple endocrine neoplasia type 2B IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia type 2B PMID:11955539|PMID:15956201|PMID:16732321|PMID:25741868|PMID:26467025|PMID:28492532|PMID:8114938 10042418 CV186117 NM_020975.6(RET):c.972G>C (p.Trp324Cys) variant DOID:10487 Hirschsprung's disease IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:11955539|PMID:15956201|PMID:16732321|PMID:25741868|PMID:26467025|PMID:28492532|PMID:8114938 10042418 CV186117 NM_020975.6(RET):c.972G>C (p.Trp324Cys) variant DOID:3125 multiple endocrine neoplasia IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia PMID:11955539|PMID:15956201|PMID:16732321|PMID:25741868|PMID:26467025|PMID:28492532|PMID:8114938 10042418 CV186117 NM_020975.6(RET):c.972G>C (p.Trp324Cys) variant DOID:9003763 Renal Hypodysplasia/Aplasia 1 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Renal hypodysplasia/aplasia 1 PMID:11955539|PMID:15956201|PMID:16732321|PMID:25741868|PMID:26467025|PMID:28492532|PMID:8114938 10042418 CV186117 NM_020975.6(RET):c.972G>C (p.Trp324Cys) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:11955539|PMID:15956201|PMID:16732321|PMID:25741868|PMID:26467025|PMID:28492532|PMID:8114938 10042419 CV185954 NM_001048174.2(MUTYH):c.1486A>G (p.Met496Val) variant DOID:0080410 familial adenomatous polyposis 2 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MUTYH-related attenuated familial adenomatous polyposis PMID:25741868|PMID:28492532 10042419 CV185954 NM_001048174.2(MUTYH):c.1486A>G (p.Met496Val) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532 10042420 CV186174 NM_000059.4(BRCA2):c.4204A>C (p.Asn1402His) variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:26467025|PMID:28492532|PMID:31911673 10042420 CV186174 NM_000059.4(BRCA2):c.4204A>C (p.Asn1402His) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:26467025|PMID:28492532|PMID:31911673 10042421 CV186179 NM_000059.4(BRCA2):c.5675G>A (p.Gly1892Asp) variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:28492532|PMID:31911673|PMID:33471991 10042421 CV186179 NM_000059.4(BRCA2):c.5675G>A (p.Gly1892Asp) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532|PMID:31911673|PMID:33471991 10042422 CV186181 NM_000059.4(BRCA2):c.7342A>C (p.Lys2448Gln) variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome PMID:28492532 10042422 CV186181 NM_000059.4(BRCA2):c.7342A>C (p.Lys2448Gln) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:28492532 10042423 CV186184 NM_000059.4(BRCA2):c.9160C>T (p.Pro3054Ser) variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20211109 ClinVar ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome PMID:25741868|PMID:28492532|PMID:32444794 10042423 CV186184 NM_000059.4(BRCA2):c.9160C>T (p.Pro3054Ser) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20211109 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532|PMID:32444794 10042423 CV186184 NM_000059.4(BRCA2):c.9160C>T (p.Pro3054Ser) variant DOID:9008952 Breast Cancer, Familial IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868|PMID:28492532|PMID:32444794 10042424 CV186183 NM_000059.4(BRCA2):c.8515T>C (p.Tyr2839His) variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25085752|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29470806|PMID:32467295|PMID:33471991|PMID:35918668 10042424 CV186183 NM_000059.4(BRCA2):c.8515T>C (p.Tyr2839His) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25085752|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29470806|PMID:32467295|PMID:33471991|PMID:35918668 10042424 CV186183 NM_000059.4(BRCA2):c.8515T>C (p.Tyr2839His) variant DOID:9008952 Breast Cancer, Familial IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Breast cancer, familial PMID:25085752|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29470806|PMID:32467295|PMID:33471991|PMID:35918668 10042425 CV186152 NM_000218.3(KCNQ1):c.428C>T (p.Ser143Phe) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10042426 CV185957 NM_001048174.2(MUTYH):c.775G>A (p.Ala259Thr) variant DOID:0080410 familial adenomatous polyposis 2 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 2 PMID:25741868|PMID:28492532 10042426 CV185957 NM_001048174.2(MUTYH):c.775G>A (p.Ala259Thr) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532 10042428 CV186119 NM_020975.6(RET):c.3021G>T (p.Lys1007Asn) variant DOID:0050430 multiple endocrine neoplasia type 2A IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2 PMID:28492532 10042428 CV186119 NM_020975.6(RET):c.3021G>T (p.Lys1007Asn) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:28492532 10042429 CV186018 NM_001148.6(ANK2):c.7132G>A (p.Glu2378Lys) variant DOID:0050451 Brugada syndrome IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:23861362|PMID:25741868|PMID:26230511|PMID:28492532 10042429 CV186018 NM_001148.6(ANK2):c.7132G>A (p.Glu2378Lys) variant DOID:0111700 ankyrin-B-related cardiac arrhythmia IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: ANKYRIN-B SYNDROME PMID:23861362|PMID:25741868|PMID:26230511|PMID:28492532 10042429 CV186018 NM_001148.6(ANK2):c.7132G>A (p.Glu2378Lys) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25741868|PMID:26230511|PMID:28492532 10042429 CV186018 NM_001148.6(ANK2):c.7132G>A (p.Glu2378Lys) variant DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:23861362|PMID:25741868|PMID:26230511|PMID:28492532 10042430 CV186073 NM_000238.4(KCNH2):c.2900dup (p.Pro968fs) variant DOID:0110645 long QT syndrome 2 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 PMID:10973849|PMID:17576861|PMID:28492532 10042430 CV186073 NM_000238.4(KCNH2):c.2900dup (p.Pro968fs) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:17576861|PMID:28492532 10042431 CV186287 NM_003098.3(SNTA1):c.1442C>T (p.Ser481Leu) variant DOID:0110653 long QT syndrome 12 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Long QT syndrome 12 PMID:28492532|PMID:30403391 10042431 CV186287 NM_003098.3(SNTA1):c.1442C>T (p.Ser481Leu) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532|PMID:30403391 10042432 CV185956 NM_001048174.2(MUTYH):c.833G>A (p.Cys278Tyr) variant DOID:0050424 familial adenomatous polyposis IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: MYH-associated polyposis PMID:25741868|PMID:28492532 10042432 CV185956 NM_001048174.2(MUTYH):c.833G>A (p.Cys278Tyr) variant DOID:0080410 familial adenomatous polyposis 2 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 2 PMID:25741868|PMID:28492532 10042432 CV185956 NM_001048174.2(MUTYH):c.833G>A (p.Cys278Tyr) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532 10042433 CV185955 NM_001048174.2(MUTYH):c.1346C>T (p.Thr449Met) variant DOID:0080410 familial adenomatous polyposis 2 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: MUTYH-related attenuated familial adenomatous polyposis PMID:18515411|PMID:25741868|PMID:28492532 10042433 CV185955 NM_001048174.2(MUTYH):c.1346C>T (p.Thr449Met) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:18515411|PMID:25741868|PMID:28492532 10042435 CV186260 NM_007294.4(BRCA1):c.1802A>G (p.His601Arg) variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:15726418|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31911673 10042435 CV186260 NM_007294.4(BRCA1):c.1802A>G (p.His601Arg) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:15726418|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31911673 10042436 CV186182 NM_000059.4(BRCA2):c.7597T>G (p.Ser2533Ala) variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:28492532 10042436 CV186182 NM_000059.4(BRCA2):c.7597T>G (p.Ser2533Ala) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532 10042436 CV186182 NM_000059.4(BRCA2):c.7597T>G (p.Ser2533Ala) variant DOID:9008952 Breast Cancer, Familial IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868|PMID:28492532 10042437 CV186257 NM_007294.4(BRCA1):c.2425G>A (p.Glu809Lys) variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:26467025|PMID:28492532|PMID:31911673 10042437 CV186257 NM_007294.4(BRCA1):c.2425G>A (p.Glu809Lys) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:26467025|PMID:28492532|PMID:31911673 10042438 CV186239 NM_007294.3(BRCA1):c.4186-?_4357+?dup172 variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome PMID:25741868|PMID:28492532 10042439 CV186238 NM_007294.3(BRCA1):c.5278-?_5467+?del variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome PMID:28492532 10042443 CV186185 NM_000059.4(BRCA2):c.9554A>C (p.His3185Pro) variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome PMID:28492532 10042444 CV186118 NM_020975.6(RET):c.1118C>T (p.Ala373Val) variant DOID:0050430 multiple endocrine neoplasia type 2A IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2a PMID:17108762|PMID:21986619|PMID:21995290|PMID:22574178|PMID:25741868|PMID:28492532 10042444 CV186118 NM_020975.6(RET):c.1118C>T (p.Ala373Val) variant DOID:0050771 pheochromocytoma IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Pheochromocytoma PMID:17108762|PMID:21986619|PMID:21995290|PMID:22574178|PMID:25741868|PMID:28492532 10042444 CV186118 NM_020975.6(RET):c.1118C>T (p.Ala373Val) variant DOID:10016 multiple endocrine neoplasia type 2B IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2b PMID:17108762|PMID:21986619|PMID:21995290|PMID:22574178|PMID:25741868|PMID:28492532 10042444 CV186118 NM_020975.6(RET):c.1118C>T (p.Ala373Val) variant DOID:10487 Hirschsprung's disease IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Hirschsprung Disease, Dominant PMID:17108762|PMID:21986619|PMID:21995290|PMID:22574178|PMID:25741868|PMID:28492532 10042444 CV186118 NM_020975.6(RET):c.1118C>T (p.Ala373Val) variant DOID:14766 renal agenesis IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: RENAL APLASIA PMID:17108762|PMID:21986619|PMID:21995290|PMID:22574178|PMID:25741868|PMID:28492532 10042444 CV186118 NM_020975.6(RET):c.1118C>T (p.Ala373Val) variant DOID:3125 multiple endocrine neoplasia IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia PMID:17108762|PMID:21986619|PMID:21995290|PMID:22574178|PMID:25741868|PMID:28492532 10042444 CV186118 NM_020975.6(RET):c.1118C>T (p.Ala373Val) variant DOID:9003763 Renal Hypodysplasia/Aplasia 1 IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Renal hypodysplasia/aplasia 1 PMID:17108762|PMID:21986619|PMID:21995290|PMID:22574178|PMID:25741868|PMID:28492532 10042444 CV186118 NM_020975.6(RET):c.1118C>T (p.Ala373Val) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17108762|PMID:21986619|PMID:21995290|PMID:22574178|PMID:25741868|PMID:28492532 10042445 CV186256 NM_007294.4(BRCA1):c.3091A>G (p.Ile1031Val) variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:28492532|PMID:31159747|PMID:31911673 10042445 CV186256 NM_007294.4(BRCA1):c.3091A>G (p.Ile1031Val) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532|PMID:31159747|PMID:31911673 10042446 CV186115 NM_020975.6(RET):c.262A>G (p.Ile88Val) variant DOID:0050430 multiple endocrine neoplasia type 2A IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA PMID:25741868|PMID:28492532 10042446 CV186115 NM_020975.6(RET):c.262A>G (p.Ile88Val) variant DOID:10016 multiple endocrine neoplasia type 2B IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB PMID:25741868|PMID:28492532 10042446 CV186115 NM_020975.6(RET):c.262A>G (p.Ile88Val) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:25741868|PMID:28492532 10042447 CV186169 NM_000059.4(BRCA2):c.2389A>G (p.Lys797Glu) variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:26467025|PMID:28492532|PMID:31911673 10042447 CV186169 NM_000059.4(BRCA2):c.2389A>G (p.Lys797Glu) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:26467025|PMID:28492532|PMID:31911673 10042448 CV186176 NM_000059.4(BRCA2):c.4691dup (p.Thr1566fs) variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:20104584|PMID:25741868|PMID:26467025|PMID:26546047|PMID:27433846|PMID:28492532|PMID:29446198|PMID:30720243|PMID:31469826 10042448 CV186176 NM_000059.4(BRCA2):c.4691dup (p.Thr1566fs) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:20104584|PMID:25741868|PMID:26467025|PMID:26546047|PMID:27433846|PMID:28492532|PMID:29446198|PMID:30720243|PMID:31469826 10042449 CV186087 NM_005751.5(AKAP9):c.883A>G (p.Thr295Ala) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10042450 CV186151 NM_000890.5(KCNJ5):c.121C>T (p.Arg41Cys) variant DOID:0110644 long QT syndrome 1 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:25741868|PMID:28492532 10042450 CV186151 NM_000890.5(KCNJ5):c.121C>T (p.Arg41Cys) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:28492532 10042450 CV186151 NM_000890.5(KCNJ5):c.121C>T (p.Arg41Cys) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10042450 CV186151 NM_000890.5(KCNJ5):c.121C>T (p.Arg41Cys) variant DOID:9000644 Familial Hyperaldosteronism, Type III IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: FH III PMID:25741868|PMID:28492532 10042450 CV186151 NM_000890.5(KCNJ5):c.121C>T (p.Arg41Cys) variant DOID:9004730 Romano-Ward Syndrome IAGP D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome PMID:25741868|PMID:28492532 10042451 CV186180 NM_000059.4(BRCA2):c.5969A>G (p.Asp1990Gly) variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:22217648|PMID:25741868|PMID:28492532|PMID:31131967|PMID:31911673|PMID:33471991 10042451 CV186180 NM_000059.4(BRCA2):c.5969A>G (p.Asp1990Gly) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:22217648|PMID:25741868|PMID:28492532|PMID:31131967|PMID:31911673|PMID:33471991 10042452 CV186171 NM_000059.4(BRCA2):c.3346A>G (p.Thr1116Ala) variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:28492532|PMID:31911673 10042452 CV186171 NM_000059.4(BRCA2):c.3346A>G (p.Thr1116Ala) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532|PMID:31911673 10042453 CV186258 NM_007294.4(BRCA1):c.2231C>A (p.Ala744Asp) variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:28492532|PMID:31911673 10042453 CV186258 NM_007294.4(BRCA1):c.2231C>A (p.Ala744Asp) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:28492532|PMID:31911673 10042455 CV186175 NM_000059.4(BRCA2):c.4627A>G (p.Lys1543Glu) variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:26467025|PMID:28492532|PMID:29161300|PMID:31911673 10042455 CV186175 NM_000059.4(BRCA2):c.4627A>G (p.Lys1543Glu) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:26467025|PMID:28492532|PMID:29161300|PMID:31911673 10042455 CV186175 NM_000059.4(BRCA2):c.4627A>G (p.Lys1543Glu) variant DOID:9008952 Breast Cancer, Familial IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868|PMID:26467025|PMID:28492532|PMID:29161300|PMID:31911673 10042456 CV186114 NM_020975.5(RET):c.2731-?_*(1_?)del variant DOID:0050430 multiple endocrine neoplasia type 2A IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2 10042457 CV186168 NM_000059.3(BRCA2):c.517-?_631+?del variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome PMID:21735045|PMID:25741868|PMID:28492532 10042460 CV186261 NM_007294.4(BRCA1):c.1240dup (p.Asp414fs) variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:28492532 10042460 CV186261 NM_007294.4(BRCA1):c.1240dup (p.Asp414fs) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:28492532 10042461 CV187010 NM_000152.5(GAA):c.1933G>A (p.Asp645Asn) variant DOID:2752 glycogen storage disease II IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type II PMID:10338092|PMID:15145338|PMID:16860134|PMID:17723315|PMID:18429042|PMID:19862843|PMID:20830524|PMID:22538254|PMID:23601496|PMID:23787031|PMID:25139343|PMID:25455803|PMID:25687635|PMID:25741868|PMID:26497565|PMID:27927596|PMID:28492532|PMID:29122469|PMID:30105547|PMID:30155607|PMID:9535769 10042462 CV187014 NM_000152.5(GAA):c.2014C>T (p.Arg672Trp) variant DOID:2752 glycogen storage disease II IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type II PMID:11053688|PMID:15986226|PMID:16917947|PMID:19862843|PMID:20308911|PMID:21484825|PMID:21757382|PMID:21803581|PMID:22081099|PMID:22676651|PMID:22980766|PMID:23884227|PMID:25526786|PMID:25712382|PMID:25741868|PMID:27692865|PMID:28492532|PMID:28592009|PMID:9535769 10042463 CV186987 NM_000152.5(GAA):c.1A>G (p.Met1Val) variant DOID:2752 glycogen storage disease II IAGP D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type II PMID:1109266|PMID:14695532|PMID:18429042|PMID:18607768|PMID:22252923|PMID:24158270|PMID:25741868|PMID:28492532|PMID:29124014|PMID:29181627|PMID:29422078 10042464 CV187009 NM_000152.5(GAA):c.1843G>A (p.Gly615Arg) variant DOID:2752 glycogen storage disease II IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type II PMID:10338092|PMID:14695532|PMID:15366815|PMID:16860134|PMID:18458862|PMID:18607768|PMID:19862843|PMID:20080426|PMID:21232767|PMID:21757382|PMID:24269976|PMID:25037089|PMID:25741868|PMID:28492532 10042465 CV187039 NM_000159.4(GCDH):c.482G>A (p.Arg161Gln) variant DOID:0111254 glutaric acidemia I IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10960496|PMID:15505393|PMID:16488172|PMID:19433437|PMID:20836999|PMID:24332224|PMID:25741868|PMID:26593172|PMID:28062662|PMID:28492532|PMID:28781846|PMID:29665094|PMID:9600243 10042466 CV186997 NM_000152.5(GAA):c.925G>A (p.Gly309Arg) variant DOID:2752 glycogen storage disease II IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type II PMID:16838077|PMID:16917947|PMID:17210890|PMID:17616415|PMID:21216089|PMID:23000108|PMID:23402890|PMID:23430847|PMID:23601496|PMID:24033266|PMID:24245577|PMID:24495340|PMID:25455803|PMID:25741868|PMID:26031770|PMID:27189384|PMID:28492532|PMID:28957316|PMID:29122469|PMID:29428273|PMID:29653542|PMID:9660056 10042468 CV186996 NM_000152.5(GAA):c.784G>A (p.Glu262Lys) variant DOID:2752 glycogen storage disease II IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type II PMID:11738358|PMID:18429042|PMID:19588081|PMID:20080426|PMID:21232767|PMID:22658377|PMID:22704482|PMID:22958975|PMID:22980766|PMID:24158270|PMID:24269976|PMID:25741868|PMID:26497565|PMID:27344650|PMID:28492532|PMID:29422078|PMID:31915562 10042469 CV186992 NM_000152.5(GAA):c.569G>A (p.Arg190His) variant DOID:2752 glycogen storage disease II IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type II PMID:18425781|PMID:21484825|PMID:22644586|PMID:23000108|PMID:24444888|PMID:25741868|PMID:28492532|PMID:29046207|PMID:29124014|PMID:29149851|PMID:31076647|PMID:32528171|PMID:34356580 10042469 CV186992 NM_000152.5(GAA):c.569G>A (p.Arg190His) variant DOID:9001828 Cardiac Form of Generalized Glycogenosis IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Cardiomegalia glycogenica diffusa PMID:18425781|PMID:21484825|PMID:22644586|PMID:23000108|PMID:24444888|PMID:25741868|PMID:28492532|PMID:29046207|PMID:29124014|PMID:29149851|PMID:31076647|PMID:32528171|PMID:34356580 10042470 CV186998 NM_000152.5(GAA):c.1051del (p.Val351fs) variant DOID:2752 glycogen storage disease II IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type II PMID:17027861|PMID:18425781|PMID:20033296|PMID:20817528|PMID:22252923|PMID:22676651|PMID:24923245|PMID:25455803|PMID:25741868|PMID:28492532|PMID:29181627 10042471 CV187043 NM_000159.4(GCDH):c.1147C>T (p.Arg383Cys) variant DOID:0111254 glutaric acidemia I IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:15505393|PMID:18683078|PMID:19433437|PMID:20978942|PMID:21176883|PMID:22728054|PMID:24332224|PMID:25741868|PMID:28438223|PMID:28492532|PMID:30203563|PMID:30298489|PMID:33578440|PMID:9711871 10042471 CV187043 NM_000159.4(GCDH):c.1147C>T (p.Arg383Cys) variant DOID:630 genetic disease IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15505393|PMID:18683078|PMID:19433437|PMID:20978942|PMID:21176883|PMID:22728054|PMID:24332224|PMID:25741868|PMID:28438223|PMID:28492532|PMID:30203563|PMID:30298489|PMID:33578440|PMID:9711871 10042472 CV187000 NM_000152.5(GAA):c.1156C>T (p.Gln386Ter) variant DOID:2752 glycogen storage disease II IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type II PMID:23884227 10042473 CV187041 NM_000159.4(GCDH):c.769C>T (p.Arg257Trp) variant DOID:0111254 glutaric acidemia I IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10699052|PMID:15505393|PMID:18683078|PMID:19433437|PMID:21176883|PMID:21228398|PMID:22728054|PMID:24332224|PMID:25741868|PMID:25762492|PMID:28492532|PMID:30904546|PMID:31536184|PMID:34207159|PMID:34344405|PMID:9600243 10042474 CV187002 NM_000152.5(GAA):c.1411_1414del (p.Glu471fs) variant DOID:2752 glycogen storage disease II IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type II PMID:10338092|PMID:16857770|PMID:18425781|PMID:18458862|PMID:1856189|PMID:19948615|PMID:20080426|PMID:22252923|PMID:25466677|PMID:25741868|PMID:28394184|PMID:28492532|PMID:29046207|PMID:29122469|PMID:3049072|PMID:8604985 10042476 CV187012 NM_000152.5(GAA):c.1942G>A (p.Gly648Ser) variant DOID:2752 glycogen storage disease II IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type II PMID:16478160|PMID:17573812|PMID:17643989|PMID:18429042|PMID:19862843|PMID:22644586|PMID:23146291|PMID:25455803|PMID:25741868|PMID:26497565|PMID:26575883|PMID:28492532|PMID:29637184|PMID:9535769 10042477 CV186988 NM_000152.5(GAA):c.172C>T (p.Gln58Ter) variant DOID:2752 glycogen storage disease II IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type II PMID:10377006|PMID:18425781|PMID:20817528|PMID:22252923|PMID:28492532 10042478 CV187017 NM_000152.5(GAA):c.2140del (p.His714fs) variant DOID:2752 glycogen storage disease II IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type II PMID:17723315|PMID:18425781|PMID:22252923|PMID:25741868|PMID:28492532|PMID:30564623 10042479 CV187038 NM_000159.4(GCDH):c.416C>T (p.Ser139Leu) variant DOID:0111254 glutaric acidemia I IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:16377226|PMID:20514322|PMID:21176883|PMID:25741868|PMID:26656312|PMID:28143689|PMID:28492532|PMID:6377226|PMID:9711871 10042480 CV187019 NM_000152.5(GAA):c.2646+2T>A variant DOID:2752 glycogen storage disease II IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type II PMID:11738358|PMID:11854868|PMID:16199547|PMID:17616415|PMID:18425781|PMID:21179066|PMID:22252923|PMID:25741868|PMID:28492532|PMID:29422078|PMID:31086307|PMID:31931849|PMID:33972680|PMID:8435067 10042481 CV187008 NM_000152.5(GAA):c.1827del (p.Arg608_Tyr609insTer) variant DOID:2752 glycogen storage disease II IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type II PMID:12897283|PMID:14695532|PMID:18425781|PMID:22252923|PMID:24269976|PMID:25741868|PMID:26693141|PMID:28492532|PMID:30564623|PMID:31086307 10042482 CV187042 NM_000159.4(GCDH):c.1060G>A (p.Gly354Ser) variant DOID:0111254 glutaric acidemia I IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:15505393|PMID:16377226|PMID:24332224|PMID:25741868|PMID:26656312|PMID:26674492|PMID:28492532|PMID:9600243 10042483 CV186989 NM_000152.5(GAA):c.343C>T (p.Gln115Ter) variant DOID:2752 glycogen storage disease II IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type II PMID:17041744|PMID:17616415|PMID:25741868|PMID:8435067 10042485 CV187004 NM_000152.5(GAA):c.1441T>C (p.Trp481Arg) variant DOID:2752 glycogen storage disease II IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type II PMID:10189220|PMID:14695532|PMID:15501829|PMID:16580018|PMID:18757064|PMID:19862843|PMID:21228398|PMID:22676651|PMID:25741868|PMID:26497565|PMID:27189384|PMID:28492532|PMID:28657663|PMID:29556838|PMID:31086307|PMID:31193175|PMID:33202836|PMID:33972680|PMID:35787971|PMID:9862843 10042485 CV187004 NM_000152.5(GAA):c.1441T>C (p.Trp481Arg) variant DOID:9001828 Cardiac Form of Generalized Glycogenosis IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Cardiomegalia glycogenica diffusa PMID:10189220|PMID:14695532|PMID:15501829|PMID:16580018|PMID:18757064|PMID:19862843|PMID:21228398|PMID:22676651|PMID:25741868|PMID:26497565|PMID:27189384|PMID:28492532|PMID:28657663|PMID:29556838|PMID:31086307|PMID:31193175|PMID:33202836|PMID:33972680|PMID:35787971|PMID:9862843 10042486 CV187018 NM_000152.5(GAA):c.2608C>T (p.Arg870Ter) variant DOID:2752 glycogen storage disease II IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type II PMID:17056254|PMID:17723315|PMID:18425781|PMID:19588081|PMID:22252923|PMID:22676651|PMID:23825616|PMID:23843830|PMID:25681614|PMID:25741868|PMID:26497565|PMID:27344650|PMID:28492532|PMID:29181627|PMID:32317649 10042487 CV187044 NM_000159.4(GCDH):c.1205G>A (p.Arg402Gln) variant DOID:0111254 glutaric acidemia I IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10649503|PMID:11073722|PMID:15505393|PMID:20732827|PMID:24332224|PMID:25204480|PMID:25741868|PMID:28352331|PMID:28438223|PMID:28492532|PMID:8900227|PMID:9711871 10042488 CV187040 NM_000159.4(GCDH):c.533G>A (p.Gly178Glu) variant DOID:0111254 glutaric acidemia I IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:11073722|PMID:20960650|PMID:21176883|PMID:23104440|PMID:24332224|PMID:25741868|PMID:26656312|PMID:28352331|PMID:28492532|PMID:29419857|PMID:8900227 10042489 CV187011 NM_000152.5(GAA):c.1933G>C (p.Asp645His) variant DOID:2752 glycogen storage disease II IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type II PMID:12897283|PMID:15145338|PMID:19862843|PMID:21039225|PMID:21439876|PMID:24269976|PMID:25741868|PMID:28492532|PMID:31086307|PMID:31510962|PMID:7695647|PMID:9535769 10042490 CV187005 NM_000152.5(GAA):c.1548G>A (p.Trp516Ter) variant DOID:2752 glycogen storage disease II IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type II PMID:14695532|PMID:15048888|PMID:17027861|PMID:18425781|PMID:18607768|PMID:18757064|PMID:20826098|PMID:22237443|PMID:22252923|PMID:22676651|PMID:23601496|PMID:24715333|PMID:25155446|PMID:25243733|PMID:25525159|PMID:25626711|PMID:25741868|PMID:26873529|PMID:28492532|PMID:29122469|PMID:29181627|PMID:30155607|PMID:30564623|PMID:31086307|PMID:31965297|PMID:32317649|PMID:32888769 10042491 CV187036 NM_000159.4(GCDH):c.271+1G>A variant DOID:0111254 glutaric acidemia I IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10699052|PMID:11058907|PMID:11854167|PMID:16199547|PMID:16602100|PMID:22728054|PMID:28492532 10042492 CV187016 NM_000152.5(GAA):c.2104C>T (p.Arg702Cys) variant DOID:2752 glycogen storage disease II IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type II PMID:14972326|PMID:16917947|PMID:18211760|PMID:18425781|PMID:19862843|PMID:22081099|PMID:22704482|PMID:24158270|PMID:25687148|PMID:25741868|PMID:25786784|PMID:26310554|PMID:28492532 10042494 CV186991 NM_000152.5(GAA):c.525_526del (p.Asn177fs) variant DOID:2752 glycogen storage disease II IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type II PMID:18425781|PMID:22252923|PMID:23825616|PMID:25741868|PMID:28492532 10042495 CV186990 NM_000152.5(GAA):c.365del (p.Met122fs) variant DOID:2752 glycogen storage disease II IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type II PMID:18425781|PMID:20638881|PMID:22252923|PMID:25741868|PMID:28492532 10042496 CV187037 NM_000159.4(GCDH):c.383G>A (p.Arg128Gln) variant DOID:0111254 glutaric acidemia I IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10699052|PMID:15505393|PMID:18459892|PMID:18683078|PMID:19433437|PMID:21176883|PMID:25255367|PMID:25741868|PMID:28438223|PMID:28492532|PMID:31062211|PMID:32508882|PMID:34504725|PMID:9711871 10042497 CV186993 NM_000152.5(GAA):c.655G>A (p.Gly219Arg) variant DOID:2752 glycogen storage disease II IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type II PMID:11738358|PMID:14695532|PMID:18429042|PMID:18995995|PMID:19862843|PMID:20033296|PMID:21550241|PMID:21637107|PMID:23266370|PMID:23601496|PMID:23787031|PMID:24844452|PMID:25037089|PMID:25139343|PMID:25741868|PMID:27711114|PMID:28492532|PMID:29124014|PMID:29289479|PMID:30023291|PMID:30155607|PMID:31193175 10042498 CV187045 NM_000159.4(GCDH):c.1239C>A (p.Tyr413Ter) variant DOID:0111254 glutaric acidemia I IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10699052|PMID:10960496|PMID:11508549|PMID:12948740|PMID:19433437|PMID:21176883|PMID:25741868|PMID:28492532|PMID:29201125|PMID:31952437|PMID:8541831 10042500 CV187001 NM_000152.5(GAA):c.1309C>T (p.Arg437Cys) variant DOID:2752 glycogen storage disease II IAGP D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type II PMID:12601120|PMID:17805474|PMID:18495398|PMID:19862843|PMID:21471980|PMID:21704464|PMID:21940687|PMID:21984055|PMID:22521436|PMID:23884227|PMID:24169249|PMID:24190153|PMID:24872213|PMID:25388776|PMID:25526786|PMID:25741868|PMID:28492532|PMID:29124014 10042501 CV187006 NM_000152.5(GAA):c.1556T>C (p.Met519Thr) variant DOID:2752 glycogen storage disease II IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type II PMID:14695532|PMID:15501829|PMID:19862843|PMID:25741868|PMID:28492532|PMID:31086307|PMID:31439017|PMID:31965297|PMID:33741225|PMID:7603530|PMID:7866409 10042502 CV187007 NM_000152.5(GAA):c.1826dup (p.Tyr609Ter) variant DOID:2752 glycogen storage disease II IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type II PMID:12897283|PMID:14695532|PMID:18425781|PMID:22252923|PMID:24269976|PMID:25741864|PMID:25741868|PMID:25846667|PMID:28492532|PMID:29124014 10042503 CV187035 NM_000159.4(GCDH):c.262C>T (p.Arg88Cys) variant DOID:0111254 glutaric acidemia I IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10699052|PMID:11073722|PMID:15505393|PMID:19433437|PMID:20978942|PMID:21811973|PMID:23395213|PMID:24332224|PMID:25255367|PMID:25741868|PMID:26633542|PMID:27243974|PMID:28062662|PMID:28438223|PMID:28492532|PMID:8900227|PMID:9600243 10042504 CV187013 NM_000152.5(GAA):c.1979G>A (p.Arg660His) variant DOID:2752 glycogen storage disease II IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type II PMID:14643388|PMID:19862843|PMID:20472203|PMID:20638881|PMID:21484825|PMID:22521436|PMID:22555271|PMID:22658377|PMID:25037089|PMID:25741868|PMID:27649523|PMID:28492532 10042505 CV187003 NM_000152.5(GAA):c.1438-1G>C variant DOID:2752 glycogen storage disease II IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type II PMID:11949932|PMID:16199547|PMID:18425781|PMID:21179066|PMID:22252923|PMID:22538254|PMID:24495340|PMID:25455803|PMID:25614309|PMID:25741868|PMID:27896092|PMID:28492532|PMID:29122469|PMID:31342611 10042506 CV186994 NM_000152.5(GAA):c.670C>T (p.Arg224Trp) variant DOID:2752 glycogen storage disease II IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type II PMID:12923862|PMID:14643388|PMID:18429042|PMID:19862843|PMID:22081099|PMID:23632174|PMID:25026126|PMID:25673129|PMID:25741868|PMID:28492532|PMID:29422078|PMID:30275481|PMID:30564623|PMID:31086307|PMID:33560568 10042507 CV186843 NM_001360.3(DHCR7):c.292C>T (p.Gln98Ter) variant DOID:14692 Smith-Lemli-Opitz syndrome IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Smith-Lemli-Opitz syndrome PMID:10677299|PMID:15776424|PMID:15805162|PMID:15979035|PMID:22391996|PMID:22929031|PMID:25741868|PMID:28349652|PMID:28492532|PMID:9634533 10042508 CV186842 NM_001360.3(DHCR7):c.461C>T (p.Thr154Met) variant DOID:14692 Smith-Lemli-Opitz syndrome IAGP D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Smith-Lemli-Opitz syndrome PMID:10677299|PMID:10995508|PMID:11427181|PMID:12914579|PMID:15896653|PMID:16983147|PMID:18249054|PMID:20556518|PMID:22391996|PMID:25741868|PMID:28349652|PMID:28492532 10042509 CV186840 NM_001360.3(DHCR7):c.1426T>C (p.Ter476Gln) variant DOID:14692 Smith-Lemli-Opitz syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Smith-Lemli-Opitz syndrome PMID:10602371|PMID:16044199|PMID:23042628|PMID:25741868|PMID:28492532 10042510 CV186841 NM_001360.3(DHCR7):c.1139G>A (p.Cys380Tyr) variant DOID:14692 Smith-Lemli-Opitz syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Smith-Lemli-Opitz syndrome PMID:10677299|PMID:12070263|PMID:15896653|PMID:16983147|PMID:17441222|PMID:17497248|PMID:17974928|PMID:17994283|PMID:25405082|PMID:25741868|PMID:28492532 10042510 CV186841 NM_001360.3(DHCR7):c.1139G>A (p.Cys380Tyr) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10677299|PMID:12070263|PMID:15896653|PMID:16983147|PMID:17441222|PMID:17497248|PMID:17974928|PMID:17994283|PMID:25405082|PMID:25741868|PMID:28492532 10042511 CV186844 NM_001360.3(DHCR7):c.111G>A (p.Trp37Ter) variant DOID:14692 Smith-Lemli-Opitz syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Smith-Lemli-Opitz syndrome PMID:10677299|PMID:10814720|PMID:16983147|PMID:25741868|PMID:28492532|PMID:9634533 10042512 CV187113 NM_000046.5(ARSB):c.1450A>G (p.Arg484Gly) variant DOID:12800 mucopolysaccharidosis VI IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis type 6 PMID:14974081|PMID:17458871|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30118150 10042513 CV59668 NM_000063.6(C2):c.841_849+19del variant DOID:0060295 complement component 2 deficiency IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Complement component 2 deficiency PMID:11115162|PMID:1577763|PMID:25454804|PMID:25741868|PMID:26038300|PMID:26590091|PMID:27943079|PMID:28492532|PMID:29619023|PMID:31440263|PMID:31980526|PMID:33726816|PMID:34426522|PMID:35874679|PMID:7901282|PMID:8645999|PMID:9616367 10042514 CV187110 NM_000094.4(COL7A1):c.7557+1G>T variant DOID:0060642 recessive dystrophic epidermolysis bullosa IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa PMID:16199547|PMID:16971478|PMID:21448560|PMID:24033266|PMID:25741868|PMID:28492532 10042514 CV187110 NM_000094.4(COL7A1):c.7557+1G>T variant DOID:4959 epidermolysis bullosa dystrophica IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica PMID:16199547|PMID:16971478|PMID:21448560|PMID:24033266|PMID:25741868|PMID:28492532 10042515 CV187116 NM_001081.4(CUBN):c.6928_6934del (p.Glu2310fs) variant DOID:13382 megaloblastic anemia IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Megaloblastic anemia due to inborn errors of metabolism PMID:15024727|PMID:22929189|PMID:24033266|PMID:25349199|PMID:25741868|PMID:28492532|PMID:31613795|PMID:34979989 10042515 CV187116 NM_001081.4(CUBN):c.6928_6934del (p.Glu2310fs) variant DOID:784 chronic kidney disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:15024727|PMID:22929189|PMID:24033266|PMID:25349199|PMID:25741868|PMID:28492532|PMID:31613795|PMID:34979989 10042515 CV187116 NM_001081.4(CUBN):c.6928_6934del (p.Glu2310fs) variant DOID:9005529 Chronic Benign Proteinuria IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Proteinuria, chronic benign PMID:15024727|PMID:22929189|PMID:24033266|PMID:25349199|PMID:25741868|PMID:28492532|PMID:31613795|PMID:34979989 10042515 CV187116 NM_001081.4(CUBN):c.6928_6934del (p.Glu2310fs) variant DOID:9006481 Imerslund-Grasbeck Syndrome 1 IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Megaloblastic anemia 1, Finnish type PMID:15024727|PMID:22929189|PMID:24033266|PMID:25349199|PMID:25741868|PMID:28492532|PMID:31613795|PMID:34979989 10042515 CV187116 NM_001081.4(CUBN):c.6928_6934del (p.Glu2310fs) variant DOID:9006825 Imerslund-Grasbeck Syndrome IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome PMID:15024727|PMID:22929189|PMID:24033266|PMID:25349199|PMID:25741868|PMID:28492532|PMID:31613795|PMID:34979989 10042516 CV187124 NM_001363711.2(DUOX2):c.3847+2T>C variant DOID:0112183 familial thyroid dyshormonogenesis IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Familial thyroid dyshormonogenesis PMID:12110737|PMID:16199547|PMID:18765513|PMID:21565790|PMID:24423310|PMID:24735383|PMID:25741868|PMID:28492532 10042516 CV187124 NM_001363711.2(DUOX2):c.3847+2T>C variant DOID:0112189 thyroid dyshormonogenesis 6 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Thyroid dyshormonogenesis 6 PMID:12110737|PMID:16199547|PMID:18765513|PMID:21565790|PMID:24423310|PMID:24735383|PMID:25741868|PMID:28492532 10042517 CV187125 NM_001363711.2(DUOX2):c.2895_2898del (p.Phe966fs) variant DOID:0050328 congenital hypothyroidism IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Congenital hypothyroidism PMID:12110737|PMID:16322276|PMID:18765513|PMID:20972728|PMID:21565790|PMID:24423310|PMID:24735383|PMID:25741868|PMID:26990548|PMID:27525530|PMID:27821020|PMID:28492532|PMID:28666341|PMID:30084132|PMID:30240412|PMID:30487145|PMID:31044655|PMID:32765423 10042517 CV187125 NM_001363711.2(DUOX2):c.2895_2898del (p.Phe966fs) variant DOID:0112183 familial thyroid dyshormonogenesis IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Familial thyroid dyshormonogenesis PMID:12110737|PMID:16322276|PMID:18765513|PMID:20972728|PMID:21565790|PMID:24423310|PMID:24735383|PMID:25741868|PMID:26990548|PMID:27525530|PMID:27821020|PMID:28492532|PMID:28666341|PMID:30084132|PMID:30240412|PMID:30487145|PMID:31044655|PMID:32765423 10042517 CV187125 NM_001363711.2(DUOX2):c.2895_2898del (p.Phe966fs) variant DOID:0112189 thyroid dyshormonogenesis 6 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Thyroid dyshormonogenesis 6 PMID:12110737|PMID:16322276|PMID:18765513|PMID:20972728|PMID:21565790|PMID:24423310|PMID:24735383|PMID:25741868|PMID:26990548|PMID:27525530|PMID:27821020|PMID:28492532|PMID:28666341|PMID:30084132|PMID:30240412|PMID:30487145|PMID:31044655|PMID:32765423 10042517 CV187125 NM_001363711.2(DUOX2):c.2895_2898del (p.Phe966fs) variant DOID:630 genetic disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12110737|PMID:16322276|PMID:18765513|PMID:20972728|PMID:21565790|PMID:24423310|PMID:24735383|PMID:25741868|PMID:26990548|PMID:27525530|PMID:27821020|PMID:28492532|PMID:28666341|PMID:30084132|PMID:30240412|PMID:30487145|PMID:31044655|PMID:32765423 10042518 CV187115 NM_001142800.2(EYS):c.6416G>A (p.Cys2139Tyr) variant DOID:0110384 retinitis pigmentosa 25 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 25 PMID:20237254|PMID:20333770|PMID:24033266|PMID:24670872|PMID:25356976|PMID:25366773|PMID:25741868|PMID:25753737|PMID:27375351|PMID:28492532|PMID:31054281|PMID:31872526|PMID:31960602|PMID:31964843|PMID:32037395|PMID:32100970|PMID:32531858|PMID:33090715|PMID:34906470|PMID:36464167|PMID:36819107 10042518 CV187115 NM_001142800.2(EYS):c.6416G>A (p.Cys2139Tyr) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:20237254|PMID:20333770|PMID:24033266|PMID:24670872|PMID:25356976|PMID:25366773|PMID:25741868|PMID:25753737|PMID:27375351|PMID:28492532|PMID:31054281|PMID:31872526|PMID:31960602|PMID:31964843|PMID:32037395|PMID:32100970|PMID:32531858|PMID:33090715|PMID:34906470|PMID:36464167|PMID:36819107 10042518 CV187115 NM_001142800.2(EYS):c.6416G>A (p.Cys2139Tyr) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:20237254|PMID:20333770|PMID:24033266|PMID:24670872|PMID:25356976|PMID:25366773|PMID:25741868|PMID:25753737|PMID:27375351|PMID:28492532|PMID:31054281|PMID:31872526|PMID:31960602|PMID:31964843|PMID:32037395|PMID:32100970|PMID:32531858|PMID:33090715|PMID:34906470|PMID:36464167|PMID:36819107 10042519 CV187126 NM_201525.4(ADGRG1):c.10C>T (p.Gln4Ter) variant DOID:0080922 bilateral frontoparietal polymicrogyria IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Polymicrogyria, bilateral frontoparietal PMID:15044805|PMID:24033266 10042520 CV187117 NM_000218.3(KCNQ1):c.826del (p.Ser276fs) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome PMID:24033266 10042521 CV187114 NM_000426.4(LAMA2):c.5563-2A>G variant DOID:0110636 congenital merosin-deficient muscular dystrophy 1A IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Merosin deficient congenital muscular dystrophy PMID:24033266 10042522 CV187106 NM_033343.4(LHX4):c.452-2A>C variant DOID:0061017 combined pituitary hormone deficiency 4 IAGP D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Short stature, pituitary and cerebellar defects and small sella turcica PMID:23990694|PMID:24033266 10042523 CV187112 NM_001127671.2(LIFR):c.2074C>T (p.Arg692Ter) variant DOID:9004577 Stuve-Wiedemann Syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Stuve-Wiedemann syndrome PMID:14740318|PMID:24033266|PMID:24988918|PMID:25741868|PMID:28492532 10042523 CV187112 NM_001127671.2(LIFR):c.2074C>T (p.Arg692Ter) variant DOID:9008909 Stuve-Wiedemann Syndrome 1 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Stüve-Wiedemann syndrome 1 PMID:14740318|PMID:24033266|PMID:24988918|PMID:25741868|PMID:28492532 10042526 CV187120 NM_000289.6(PFKM):c.237+1G>A variant DOID:11721 glycogen storage disease VII IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type VII PMID:24033266|PMID:25741868|PMID:28492532|PMID:28779239|PMID:8037209|PMID:8444874|PMID:8880699|PMID:9389749 10042526 CV187120 NM_000289.6(PFKM):c.237+1G>A variant DOID:9000884 Rhabdomyolysis IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Rhabdomyolysis PMID:24033266|PMID:25741868|PMID:28492532|PMID:28779239|PMID:8037209|PMID:8444874|PMID:8880699|PMID:9389749 10042527 CV187107 NM_032409.3(PINK1):c.620del (p.Arg207fs) variant DOID:0060369 Parkinson's disease 6 IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 PMID:24033266 10042528 CV187131 NM_002863.5(PYGL):c.25_44dup (p.Ser15fs) variant DOID:2754 glycogen storage disease VI IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type VI PMID:24033266 10042529 CV187121 NM_000231.3(SGCG):c.525del (p.Phe175fs) variant DOID:0110274 autosomal recessive limb-girdle muscular dystrophy IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy PMID:10942431|PMID:12040521|PMID:12566530|PMID:1303286|PMID:18285821|PMID:20623375|PMID:22240777|PMID:23929688|PMID:24033266|PMID:24552312|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32214227|PMID:7481775|PMID:8923014 10042529 CV187121 NM_000231.3(SGCG):c.525del (p.Phe175fs) variant DOID:0110277 autosomal recessive limb-girdle muscular dystrophy type 2C IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 5 PMID:10942431|PMID:12040521|PMID:12566530|PMID:1303286|PMID:18285821|PMID:20623375|PMID:22240777|PMID:23929688|PMID:24033266|PMID:24552312|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32214227|PMID:7481775|PMID:8923014 10042530 CV187109 NM_080424.4(SP110):c.877A>T (p.Lys293Ter) variant DOID:0112254 hepatic venoocclusive disease with immunodeficiency IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Hepatic venoocclusive disease with immunodeficiency PMID:16648851|PMID:22621957|PMID:24033266 10042531 CV187123 NM_018418.5(SPATA7):c.94+2T>C variant DOID:0110331 Leber congenital amaurosis 3 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 3 PMID:16199547|PMID:19268277|PMID:22334370|PMID:23847139|PMID:24033266|PMID:26047050|PMID:26261414|PMID:28492532 10042532 CV187118 NM_006019.4(TCIRG1):c.1674-1G>A variant DOID:0110942 autosomal recessive osteopetrosis 1 IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 1 PMID:10888887|PMID:11532986|PMID:15300850|PMID:19507210|PMID:24033266|PMID:24753205|PMID:25525159|PMID:25741868|PMID:28492532|PMID:29431110|PMID:30898715|PMID:31589614|PMID:31949009 10042532 CV187118 NM_006019.4(TCIRG1):c.1674-1G>A variant DOID:13533 osteopetrosis IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Osteopetrosis PMID:10888887|PMID:11532986|PMID:15300850|PMID:19507210|PMID:24033266|PMID:24753205|PMID:25525159|PMID:25741868|PMID:28492532|PMID:29431110|PMID:30898715|PMID:31589614|PMID:31949009 10042533 CV187119 NM_024809.5(TCTN2):c.1877T>A (p.Leu626Ter) variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:24033266 10042534 CV187105 NM_019026.6(TMCO1):c.87_90del (p.Val30fs) variant DOID:0081072 craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome PMID:20018682|PMID:23320496|PMID:24033266|PMID:24194475|PMID:24424126 10042536 CV187108 NM_206933.4(USH2A):c.1214del (p.Asn405fs) variant DOID:0110360 retinitis pigmentosa 39 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 39 PMID:10729113|PMID:10909849|PMID:15671307|PMID:16098008|PMID:18641288|PMID:20507924|PMID:22004887|PMID:24033266|PMID:25404053|PMID:25649381|PMID:25741868|PMID:28492532 10042536 CV187108 NM_206933.4(USH2A):c.1214del (p.Asn405fs) variant DOID:0110838 Usher syndrome type 2A IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2A PMID:10729113|PMID:10909849|PMID:15671307|PMID:16098008|PMID:18641288|PMID:20507924|PMID:22004887|PMID:24033266|PMID:25404053|PMID:25649381|PMID:25741868|PMID:28492532 10042536 CV187108 NM_206933.4(USH2A):c.1214del (p.Asn405fs) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10729113|PMID:10909849|PMID:15671307|PMID:16098008|PMID:18641288|PMID:20507924|PMID:22004887|PMID:24033266|PMID:25404053|PMID:25649381|PMID:25741868|PMID:28492532 10042537 CV187111 NM_006005.3(WFS1):c.124C>T (p.Arg42Ter) variant DOID:0080584 autosomal dominant Wolfram syndrome IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: HEARING LOSS, PROGRESSIVE, WITH OPTIC ATROPHY AND/OR IMPAIRED GLUCOSE REGULATION PMID:12955714|PMID:17603484|PMID:18040659|PMID:20028947|PMID:24033266|PMID:25714468|PMID:25741868|PMID:27167055|PMID:28492532|PMID:30245029|PMID:31521625|PMID:31980526|PMID:34356170|PMID:34556497|PMID:35206658|PMID:36208030|PMID:9856492 10042537 CV187111 NM_006005.3(WFS1):c.124C>T (p.Arg42Ter) variant DOID:0110241 cataract 41 IAGP D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Cataract 41 PMID:12955714|PMID:17603484|PMID:18040659|PMID:20028947|PMID:24033266|PMID:25714468|PMID:25741868|PMID:27167055|PMID:28492532|PMID:30245029|PMID:31521625|PMID:31980526|PMID:34356170|PMID:34556497|PMID:35206658|PMID:36208030|PMID:9856492 10042537 CV187111 NM_006005.3(WFS1):c.124C>T (p.Arg42Ter) variant DOID:0110584 autosomal dominant nonsyndromic deafness 6 IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 6 PMID:12955714|PMID:17603484|PMID:18040659|PMID:20028947|PMID:24033266|PMID:25714468|PMID:25741868|PMID:27167055|PMID:28492532|PMID:30245029|PMID:31521625|PMID:31980526|PMID:34356170|PMID:34556497|PMID:35206658|PMID:36208030|PMID:9856492 10042537 CV187111 NM_006005.3(WFS1):c.124C>T (p.Arg42Ter) variant DOID:0110629 Wolfram syndrome 1 IAGP D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Wolfram syndrome 1 PMID:12955714|PMID:17603484|PMID:18040659|PMID:20028947|PMID:24033266|PMID:25714468|PMID:25741868|PMID:27167055|PMID:28492532|PMID:30245029|PMID:31521625|PMID:31980526|PMID:34356170|PMID:34556497|PMID:35206658|PMID:36208030|PMID:9856492 10042537 CV187111 NM_006005.3(WFS1):c.124C>T (p.Arg42Ter) variant DOID:0111099 maturity-onset diabetes of the young type 1 IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:12955714|PMID:17603484|PMID:18040659|PMID:20028947|PMID:24033266|PMID:25714468|PMID:25741868|PMID:27167055|PMID:28492532|PMID:30245029|PMID:31521625|PMID:31980526|PMID:34356170|PMID:34556497|PMID:35206658|PMID:36208030|PMID:9856492 10042537 CV187111 NM_006005.3(WFS1):c.124C>T (p.Arg42Ter) variant DOID:630 genetic disease IAGP D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12955714|PMID:17603484|PMID:18040659|PMID:20028947|PMID:24033266|PMID:25714468|PMID:25741868|PMID:27167055|PMID:28492532|PMID:30245029|PMID:31521625|PMID:31980526|PMID:34356170|PMID:34556497|PMID:35206658|PMID:36208030|PMID:9856492 10042537 CV187111 NM_006005.3(WFS1):c.124C>T (p.Arg42Ter) variant DOID:9352 type 2 diabetes mellitus IAGP D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:12955714|PMID:17603484|PMID:18040659|PMID:20028947|PMID:24033266|PMID:25714468|PMID:25741868|PMID:27167055|PMID:28492532|PMID:30245029|PMID:31521625|PMID:31980526|PMID:34356170|PMID:34556497|PMID:35206658|PMID:36208030|PMID:9856492 10042537 CV187111 NM_006005.3(WFS1):c.124C>T (p.Arg42Ter) variant DOID:9849 Meniere's disease IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Ménière's disease PMID:12955714|PMID:17603484|PMID:18040659|PMID:20028947|PMID:24033266|PMID:25714468|PMID:25741868|PMID:27167055|PMID:28492532|PMID:30245029|PMID:31521625|PMID:31980526|PMID:34356170|PMID:34556497|PMID:35206658|PMID:36208030|PMID:9856492 10042538 CV187181 NM_004771.4(MMP20):c.611A>G (p.His204Arg) variant DOID:0110060 amelogenesis imperfecta hypomaturation type 2A2 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type, IIA2 PMID:23355523 10042539 CV172162 NM_000314.6(PTEN):c.-1059C>G variant DOID:0050657 Cowden syndrome 1 IAGP D RGD:8554872 20250909 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:25669429|PMID:25741868|PMID:26229595 10042539 CV172162 NM_000314.6(PTEN):c.-1059C>G variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25669429|PMID:25741868|PMID:26229595 10042540 CV172161 NM_000314.4(PTEN):c.-1242G>A variant DOID:0050657 Cowden syndrome 1 IAGP D RGD:8554872 20250909 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:25741868 10042543 CV187391 NM_001103.4(ACTN2):c.332G>T (p.Gly111Val) variant DOID:0110428 dilated cardiomyopathy 1AA IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 23 PMID:17097056|PMID:27287556|PMID:28492532 10042544 CV187393 NM_001103.4(ACTN2):c.2276G>C (p.Arg759Thr) variant DOID:0110428 dilated cardiomyopathy 1AA IAGP D RGD:8554872 20190625 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 23 PMID:17097056 10042545 CV187394 NM_001103.4(ACTN2):c.1883A>G (p.Glu628Gly) variant DOID:0110428 dilated cardiomyopathy 1AA IAGP D RGD:8554872 20190625 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 23 PMID:20022194 10042547 CV187414 NM_005249.5(FOXG1):c.1200C>A (p.Tyr400Ter) variant DOID:0070657 congenital variant of Rett syndrome IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: FOXG1 disorder PMID:22091895|PMID:34837432 10042548 CV187415 NM_005249.5(FOXG1):c.1248C>G (p.Tyr416Ter) variant DOID:0070657 congenital variant of Rett syndrome IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Rett syndrome, congenital variant PMID:19806373|PMID:25741868|PMID:28661489|PMID:34837432 10042549 CV187398 NM_005249.5(FOXG1):c.136C>T (p.Gln46Ter) variant DOID:0070657 congenital variant of Rett syndrome IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Rett syndrome, congenital variant PMID:22091895|PMID:25741868|PMID:28661489|PMID:34837432 10042550 CV187400 NM_005249.5(FOXG1):c.256C>T (p.Gln86Ter) variant DOID:0070657 congenital variant of Rett syndrome IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Rett syndrome, congenital variant PMID:21441262|PMID:25741868|PMID:28661489|PMID:34837432 10042551 CV187401 NM_005249.5(FOXG1):c.256del (p.Gln86fs) variant DOID:0070657 congenital variant of Rett syndrome IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Rett syndrome, congenital variant PMID:22739344|PMID:25741868|PMID:26344814|PMID:28492532|PMID:34837432|PMID:39033378 10042551 CV187401 NM_005249.5(FOXG1):c.256del (p.Gln86fs) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:22739344|PMID:25741868|PMID:26344814|PMID:28492532|PMID:34837432|PMID:39033378 10042552 CV187402 NM_005249.5(FOXG1):c.256dup (p.Gln86fs) variant DOID:0070657 congenital variant of Rett syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Rett syndrome, congenital variant PMID:20734096|PMID:22129046|PMID:22739344|PMID:22968132|PMID:25741868|PMID:28492532|PMID:34837432 10042552 CV187402 NM_005249.5(FOXG1):c.256dup (p.Gln86fs) variant DOID:9006534 Nervous System Malformations IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Abnormality of the nervous system PMID:20734096|PMID:22129046|PMID:22739344|PMID:22968132|PMID:25741868|PMID:28492532|PMID:34837432 10042554 CV187404 NM_005249.5(FOXG1):c.552dup (p.Ser185fs) variant DOID:0070657 congenital variant of Rett syndrome IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Rett syndrome, congenital variant PMID:19578037|PMID:25741868|PMID:28661489|PMID:34837432 10042555 CV187405 NM_005249.5(FOXG1):c.577G>A (p.Ala193Thr) variant DOID:0070657 congenital variant of Rett syndrome IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Rett syndrome, congenital variant PMID:22190898|PMID:25741868|PMID:28492532|PMID:28661489|PMID:34837432 10042555 CV187405 NM_005249.5(FOXG1):c.577G>A (p.Ala193Thr) variant DOID:630 genetic disease IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22190898|PMID:25741868|PMID:28492532|PMID:28661489|PMID:34837432 10042556 CV187406 NM_005249.5(FOXG1):c.610C>T (p.Leu204Phe) variant DOID:0070657 congenital variant of Rett syndrome IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: FOXG1 disorder PMID:21953941|PMID:34837432 10042557 CV187409 NM_005249.5(FOXG1):c.689G>A (p.Arg230His) variant DOID:0070657 congenital variant of Rett syndrome IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Rett syndrome, congenital variant PMID:22129046|PMID:25741868|PMID:34837432 10042558 CV187410 NM_005249.5(FOXG1):c.700T>C (p.Ser234Pro) variant DOID:0070657 congenital variant of Rett syndrome IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Rett syndrome, congenital variant PMID:21441262|PMID:25741868|PMID:28661489|PMID:34837432 10042559 CV187411 NM_005249.5(FOXG1):c.730C>T (p.Arg244Cys) variant DOID:0070657 congenital variant of Rett syndrome IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Rett syndrome, congenital variant PMID:21270142|PMID:21280142|PMID:22091895|PMID:24901346|PMID:25741868|PMID:28492532|PMID:28661489|PMID:34837432 10042560 CV187412 NM_005249.5(FOXG1):c.788_792del (p.Asp263fs) variant DOID:0070657 congenital variant of Rett syndrome IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Rett syndrome, congenital variant PMID:24412290|PMID:34837432 10042561 CV187413 NM_005249.5(FOXG1):c.969del (p.Ser323fs) variant DOID:0070657 congenital variant of Rett syndrome IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Rett syndrome, congenital variant PMID:18571142|PMID:25741868|PMID:28661489|PMID:34837432 10042562 CV187408 NM_005249.5(FOXG1):c.681C>G (p.Asn227Lys) variant DOID:0070657 congenital variant of Rett syndrome IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Rett syndrome, congenital variant PMID:19578037|PMID:25741868|PMID:28492532|PMID:28661489|PMID:34837432 10042563 CV187536 NM_001110792.2(MECP2):c.1089C>G (p.Pro363=) variant DOID:0111932 severe congenital encephalopathy due to MECP2 mutation IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:23591336|PMID:28492532|PMID:34837432 10042563 CV187536 NM_001110792.2(MECP2):c.1089C>G (p.Pro363=) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:23591336|PMID:28492532|PMID:34837432 10042564 CV187554 NM_001110792.2(MECP2):c.413+30G>A variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:23810759|PMID:34837432 10042565 CV187553 NM_001110792.2(MECP2):c.414-70C>G variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:23810759|PMID:34837432 10042566 CV187552 NM_001110792.2(MECP2):c.467A>G (p.Lys156Arg) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:23810759|PMID:34837432 10042567 CV187550 NM_001110792.2(MECP2):c.663G>A (p.Val221=) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:20479760|PMID:34837432 10042568 CV187544 NM_001110792.2(MECP2):c.868G>A (p.Ala290Thr) variant DOID:0111932 severe congenital encephalopathy due to MECP2 mutation IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:23696494|PMID:25741868|PMID:28492532|PMID:34837432 10042568 CV187544 NM_001110792.2(MECP2):c.868G>A (p.Ala290Thr) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:23696494|PMID:25741868|PMID:28492532|PMID:34837432 10042569 CV187464 NM_001110792.2(MECP2):c.1077_*29del (p.Lys359_Ter499delinsXaa) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:34837432 10042570 CV187517 NM_001110792.2(MECP2):c.1164_1215del (p.Lys389fs) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:11960578|PMID:34837432 10042571 CV187503 NM_001110792.2(MECP2):c.1165_1229del (p.Lys389fs) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:34837432 10042573 CV187468 NM_001110792.2(MECP2):c.1307_1452del (p.Leu436fs) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:34837432 10042575 CV187473 NM_001110792.2(MECP2):c.1374_1379del (p.Ala459_Glu460del) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:34837432 10042577 CV187549 NM_001110792.2(MECP2):c.725_792del (p.Pro242fs) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:18414213|PMID:34837432 10042580 CV187459 NM_001110792.2(MECP2):c.843_*125del (p.Gly281_Ter499delinsXaa) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:34837432 10042581 CV187540 NM_001110792.2(MECP2):c.870_975del (p.Ala291fs) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:18414213|PMID:34837432 10042583 CV187494 NM_001110792.2(MECP2):c.1151_1237del (p.His384_Ser413delinsArg) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:34837432 10042584 CV187470 NM_001110792.2(MECP2):c.1197_1436del (p.Pro400_Pro479del) variant DOID:0060827 X-linked intellectual disability-psychosis-macroorchidism syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: X-linked intellectual disability-psychosis-macroorchidism syndrome PMID:11807877|PMID:14598336|PMID:34837432 10042584 CV187470 NM_001110792.2(MECP2):c.1197_1436del (p.Pro400_Pro479del) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:11807877|PMID:14598336|PMID:34837432 10042585 CV187478 NM_001110792.2(MECP2):c.1269_1279del (p.Ser423fs) variant DOID:0060827 X-linked intellectual disability-psychosis-macroorchidism syndrome IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: X-linked intellectual disability-psychosis-macroorchidism syndrome PMID:22670143|PMID:34837432 10042585 CV187478 NM_001110792.2(MECP2):c.1269_1279del (p.Ser423fs) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:22670143|PMID:34837432 10042586 CV187647 NM_004992.3:c.(?_-226)_(*1_?)dup variant DOID:0060827 X-linked intellectual disability-psychosis-macroorchidism syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Mental retardation, X-linked, syndromic 13 PMID:15689435|PMID:16080119 10042587 CV187555 NM_001110792.2(MECP2):c.413A>G (p.Asn138Ser) variant DOID:0111932 severe congenital encephalopathy due to MECP2 mutation IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:11960578|PMID:34837432 10042587 CV187555 NM_001110792.2(MECP2):c.413A>G (p.Asn138Ser) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:11960578|PMID:34837432 10042592 CV187564 NM_001110792.2(MECP2):c.49G>A (p.Glu17Lys) variant DOID:0060827 X-linked intellectual disability-psychosis-macroorchidism syndrome IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: X-linked intellectual disability-psychosis-macroorchidism syndrome PMID:17171659|PMID:34837432 10042592 CV187564 NM_001110792.2(MECP2):c.49G>A (p.Glu17Lys) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:17171659|PMID:34837432 10042593 CV186109 NM_000264.5(PTCH1):c.1942C>G (p.His648Asp) variant DOID:2512 nevoid basal cell carcinoma syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Gorlin syndrome PMID:25741868|PMID:26467025|PMID:28492532 10042593 CV186109 NM_000264.5(PTCH1):c.1942C>G (p.His648Asp) variant DOID:2513 basal cell carcinoma IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 PMID:25741868|PMID:26467025|PMID:28492532 10042593 CV186109 NM_000264.5(PTCH1):c.1942C>G (p.His648Asp) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:26467025|PMID:28492532 10042594 CV186105 NM_000264.5(PTCH1):c.3168+2T>C variant DOID:2512 nevoid basal cell carcinoma syndrome IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Gorlin syndrome PMID:28492532 10042595 CV186246 NM_001042492.3(NF1):c.1783_1784del (p.Glu595fs) variant DOID:0111253 neurofibromatosis 1 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:25741868|PMID:28492532 10042596 CV186110 NM_000264.5(PTCH1):c.324A>G (p.Ile108Met) variant DOID:0110876 holoprosencephaly 7 IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 7 PMID:26467025|PMID:28492532|PMID:32074614 10042596 CV186110 NM_000264.5(PTCH1):c.324A>G (p.Ile108Met) variant DOID:2512 nevoid basal cell carcinoma syndrome IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Gorlin syndrome PMID:26467025|PMID:28492532|PMID:32074614 10042596 CV186110 NM_000264.5(PTCH1):c.324A>G (p.Ile108Met) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:26467025|PMID:28492532|PMID:32074614 10042597 CV186007 NM_001371279.1(REEP1):c.415A>T (p.Lys139Ter) variant DOID:0110782 hereditary spastic paraplegia 31 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 PMID:28492532 10042598 CV186100 NM_000264.5(PTCH1):c.4001G>A (p.Ser1334Asn) variant DOID:0110876 holoprosencephaly 7 IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 7 PMID:25741868|PMID:28492532 10042598 CV186100 NM_000264.5(PTCH1):c.4001G>A (p.Ser1334Asn) variant DOID:2512 nevoid basal cell carcinoma syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Gorlin syndrome PMID:25741868|PMID:28492532 10042598 CV186100 NM_000264.5(PTCH1):c.4001G>A (p.Ser1334Asn) variant DOID:2513 basal cell carcinoma IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 PMID:25741868|PMID:28492532 10042598 CV186100 NM_000264.5(PTCH1):c.4001G>A (p.Ser1334Asn) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532 10042599 CV186098 NM_000264.5(PTCH1):c.4199G>A (p.Gly1400Asp) variant DOID:2512 nevoid basal cell carcinoma syndrome IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Gorlin syndrome PMID:28492532 10042599 CV186098 NM_000264.5(PTCH1):c.4199G>A (p.Gly1400Asp) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:28492532 10042600 CV186099 NM_000264.5(PTCH1):c.4051A>G (p.Asn1351Asp) variant DOID:2512 nevoid basal cell carcinoma syndrome IAGP D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Gorlin syndrome PMID:25741868|PMID:28492532 10042600 CV186099 NM_000264.5(PTCH1):c.4051A>G (p.Asn1351Asp) variant DOID:2513 basal cell carcinoma IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: BCC1 PMID:25741868|PMID:28492532 10042600 CV186099 NM_000264.5(PTCH1):c.4051A>G (p.Asn1351Asp) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532 10042601 CV186108 NM_000264.5(PTCH1):c.2440A>C (p.Asn814His) variant DOID:2512 nevoid basal cell carcinoma syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Gorlin syndrome PMID:25741868|PMID:26467025|PMID:28492532 10042601 CV186108 NM_000264.5(PTCH1):c.2440A>C (p.Asn814His) variant DOID:2513 basal cell carcinoma IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 PMID:25741868|PMID:26467025|PMID:28492532 10042601 CV186108 NM_000264.5(PTCH1):c.2440A>C (p.Asn814His) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:26467025|PMID:28492532 10042602 CV186113 NM_000264.5(PTCH1):c.37C>G (p.Arg13Gly) variant DOID:0110876 holoprosencephaly 7 IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 7 PMID:25741868|PMID:26467025|PMID:28492532|PMID:30093976 10042602 CV186113 NM_000264.5(PTCH1):c.37C>G (p.Arg13Gly) variant DOID:2512 nevoid basal cell carcinoma syndrome IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Gorlin syndrome PMID:25741868|PMID:26467025|PMID:28492532|PMID:30093976 10042602 CV186113 NM_000264.5(PTCH1):c.37C>G (p.Arg13Gly) variant DOID:2513 basal cell carcinoma IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 PMID:25741868|PMID:26467025|PMID:28492532|PMID:30093976 10042602 CV186113 NM_000264.5(PTCH1):c.37C>G (p.Arg13Gly) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:26467025|PMID:28492532|PMID:30093976 10042603 CV186101 NM_000264.5(PTCH1):c.3992C>T (p.Ser1331Phe) variant DOID:2512 nevoid basal cell carcinoma syndrome IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Gorlin syndrome PMID:28492532 10042603 CV186101 NM_000264.5(PTCH1):c.3992C>T (p.Ser1331Phe) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20200407 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:28492532 10042604 CV186248 NM_001042492.3(NF1):c.2298_2304del (p.Glu767fs) variant DOID:0111253 neurofibromatosis 1 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:28492532 10042605 CV186253 NM_001042492.3(NF1):c.4340A>G (p.Gln1447Arg) variant DOID:0050458 juvenile myelomonocytic leukemia IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia PMID:17114577|PMID:23047742|PMID:23913538|PMID:25741868|PMID:26969325|PMID:28492532|PMID:34860164|PMID:8437860 10042605 CV186253 NM_001042492.3(NF1):c.4340A>G (p.Gln1447Arg) variant DOID:0111253 neurofibromatosis 1 IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:17114577|PMID:23047742|PMID:23913538|PMID:25741868|PMID:26969325|PMID:28492532|PMID:34860164|PMID:8437860 10042606 CV186107 NM_000264.5(PTCH1):c.2495T>A (p.Val832Asp) variant DOID:2512 nevoid basal cell carcinoma syndrome IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Gorlin syndrome PMID:28492532 10042607 CV186111 NM_000264.5(PTCH1):c.113G>T (p.Gly38Val) variant DOID:0110876 holoprosencephaly 7 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 7 PMID:25741868|PMID:26467025|PMID:28492532|PMID:33466296|PMID:34831015 10042607 CV186111 NM_000264.5(PTCH1):c.113G>T (p.Gly38Val) variant DOID:2512 nevoid basal cell carcinoma syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Gorlin syndrome PMID:25741868|PMID:26467025|PMID:28492532|PMID:33466296|PMID:34831015 10042607 CV186111 NM_000264.5(PTCH1):c.113G>T (p.Gly38Val) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:26467025|PMID:28492532|PMID:33466296|PMID:34831015 10042608 CV186103 NM_000264.5(PTCH1):c.3826C>G (p.His1276Asp) variant DOID:2512 nevoid basal cell carcinoma syndrome IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Gorlin syndrome PMID:28492532 10042609 CV186247 NM_001042492.3(NF1):c.2041C>T (p.Arg681Ter) variant DOID:0111253 neurofibromatosis 1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10607834|PMID:10712197|PMID:12112660|PMID:12807981|PMID:16944272|PMID:17668375|PMID:19738042|PMID:22155606|PMID:22190595|PMID:23404336|PMID:23913538|PMID:25324867|PMID:25325900|PMID:25741868|PMID:26467025|PMID:26908603|PMID:26973730|PMID:27171602|PMID:27482814|PMID:28492532|PMID:29522274|PMID:31717729|PMID:33372952|PMID:34080803 10042609 CV186247 NM_001042492.3(NF1):c.2041C>T (p.Arg681Ter) variant DOID:3247 rhabdomyosarcoma IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Rhabdomyosarcoma PMID:10607834|PMID:10712197|PMID:12112660|PMID:12807981|PMID:16944272|PMID:17668375|PMID:19738042|PMID:22155606|PMID:22190595|PMID:23404336|PMID:23913538|PMID:25324867|PMID:25325900|PMID:25741868|PMID:26467025|PMID:26908603|PMID:26973730|PMID:27171602|PMID:27482814|PMID:28492532|PMID:29522274|PMID:31717729|PMID:33372952|PMID:34080803 10042609 CV186247 NM_001042492.3(NF1):c.2041C>T (p.Arg681Ter) variant DOID:9002453 Cafe-au-Lait Spots IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cafe-au-lait spot PMID:10607834|PMID:10712197|PMID:12112660|PMID:12807981|PMID:16944272|PMID:17668375|PMID:19738042|PMID:22155606|PMID:22190595|PMID:23404336|PMID:23913538|PMID:25324867|PMID:25325900|PMID:25741868|PMID:26467025|PMID:26908603|PMID:26973730|PMID:27171602|PMID:27482814|PMID:28492532|PMID:29522274|PMID:31717729|PMID:33372952|PMID:34080803 10042609 CV186247 NM_001042492.3(NF1):c.2041C>T (p.Arg681Ter) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10607834|PMID:10712197|PMID:12112660|PMID:12807981|PMID:16944272|PMID:17668375|PMID:19738042|PMID:22155606|PMID:22190595|PMID:23404336|PMID:23913538|PMID:25324867|PMID:25325900|PMID:25741868|PMID:26467025|PMID:26908603|PMID:26973730|PMID:27171602|PMID:27482814|PMID:28492532|PMID:29522274|PMID:31717729|PMID:33372952|PMID:34080803 10042611 CV186104 NM_000264.5(PTCH1):c.3793G>A (p.Ala1265Thr) variant DOID:2512 nevoid basal cell carcinoma syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Gorlin syndrome PMID:28492532 10042611 CV186104 NM_000264.5(PTCH1):c.3793G>A (p.Ala1265Thr) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:28492532 10042612 CV186102 NM_000264.5(PTCH1):c.3915C>A (p.Asp1305Glu) variant DOID:2512 nevoid basal cell carcinoma syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Gorlin syndrome PMID:28492532 10042612 CV186102 NM_000264.5(PTCH1):c.3915C>A (p.Asp1305Glu) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:28492532 10042613 CV186252 NM_001042492.3(NF1):c.4332+2T>C variant DOID:0111253 neurofibromatosis 1 IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:16199547|PMID:16461335|PMID:23913538|PMID:25741868|PMID:28492532|PMID:28961165|PMID:30014477 10042614 CV186250 NM_001042492.3(NF1):c.3494T>A (p.Ile1165Lys) variant DOID:0111253 neurofibromatosis 1 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:21520333|PMID:23656349|PMID:28492532 10042615 CV186106 NM_000264.5(PTCH1):c.2782A>G (p.Ser928Gly) variant DOID:2512 nevoid basal cell carcinoma syndrome IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Gorlin syndrome PMID:28492532 10042615 CV186106 NM_000264.5(PTCH1):c.2782A>G (p.Ser928Gly) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:28492532 10042616 CV186254 NM_001042492.3(NF1):c.6373C>G (p.Leu2125Val) variant DOID:0111253 neurofibromatosis 1 IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:28492532 10042618 CV186251 NM_001042492.3(NF1):c.3500T>G (p.Leu1167Ter) variant DOID:0111253 neurofibromatosis 1 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:25741868|PMID:28492532 10042618 CV186251 NM_001042492.3(NF1):c.3500T>G (p.Leu1167Ter) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10712197|PMID:23913538|PMID:25741868|PMID:28492532 10042619 CV186245 NM_001042492.3(NF1):c.1738dup (p.Tyr580fs) variant DOID:0111253 neurofibromatosis 1 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 1 PMID:10712197|PMID:23913538|PMID:28492532 10042620 CV186567 NM_001943.5(DSG2):c.523+1G>A variant DOID:0050431 arrhythmogenic right ventricular cardiomyopathy IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:16199547|PMID:17105751|PMID:20400443|PMID:20716751|PMID:20857253|PMID:21859740|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28600387|PMID:30731207|PMID:30790397|PMID:31386562|PMID:31402444|PMID:33238575|PMID:35087879|PMID:35653365 10042620 CV186567 NM_001943.5(DSG2):c.523+1G>A variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:16199547|PMID:17105751|PMID:20400443|PMID:20716751|PMID:20857253|PMID:21859740|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28600387|PMID:30731207|PMID:30790397|PMID:31386562|PMID:31402444|PMID:33238575|PMID:35087879|PMID:35653365 10042620 CV186567 NM_001943.5(DSG2):c.523+1G>A variant DOID:0110077 arrhythmogenic right ventricular dysplasia 9 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9 PMID:16199547|PMID:17105751|PMID:20400443|PMID:20716751|PMID:20857253|PMID:21859740|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28600387|PMID:30731207|PMID:30790397|PMID:31386562|PMID:31402444|PMID:33238575|PMID:35087879|PMID:35653365 10042620 CV186567 NM_001943.5(DSG2):c.523+1G>A variant DOID:0110081 arrhythmogenic right ventricular dysplasia 10 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10 PMID:16199547|PMID:17105751|PMID:20400443|PMID:20716751|PMID:20857253|PMID:21859740|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28600387|PMID:30731207|PMID:30790397|PMID:31386562|PMID:31402444|PMID:33238575|PMID:35087879|PMID:35653365 10042621 CV186568 NM_001943.5(DSG2):c.523+1G>C variant DOID:0050431 arrhythmogenic right ventricular cardiomyopathy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:16199547|PMID:17105751|PMID:25741868|PMID:26822237|PMID:27532257|PMID:28492532|PMID:30790397|PMID:31386562|PMID:36264615 10042621 CV186568 NM_001943.5(DSG2):c.523+1G>C variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:16199547|PMID:17105751|PMID:25741868|PMID:26822237|PMID:27532257|PMID:28492532|PMID:30790397|PMID:31386562|PMID:36264615 10042621 CV186568 NM_001943.5(DSG2):c.523+1G>C variant DOID:0110081 arrhythmogenic right ventricular dysplasia 10 IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 10 PMID:16199547|PMID:17105751|PMID:25741868|PMID:26822237|PMID:27532257|PMID:28492532|PMID:30790397|PMID:31386562|PMID:36264615 10042621 CV186568 NM_001943.5(DSG2):c.523+1G>C variant DOID:0110458 dilated cardiomyopathy 1BB IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1BB PMID:16199547|PMID:17105751|PMID:25741868|PMID:26822237|PMID:27532257|PMID:28492532|PMID:30790397|PMID:31386562|PMID:36264615 10042624 CV186590 NM_001110792.2(MECP2):c.609del (p.Ser206fs) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:34837432 10042629 CV186600 NM_001110792.2(MECP2):c.1446_1447del (p.Asn482fs) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:34837432 10042633 CV186317 NM_000249.4(MLH1):c.791-1G>A variant DOID:0070274 hereditary nonpolyposis colorectal cancer type 2 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 2 PMID:15713769|PMID:16199547|PMID:24362816|PMID:25559809|PMID:25741868|PMID:27064304|PMID:27363726|PMID:28492532 10042633 CV186317 NM_000249.4(MLH1):c.791-1G>A variant DOID:3883 Lynch syndrome IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Lynch syndrome PMID:15713769|PMID:16199547|PMID:24362816|PMID:25559809|PMID:25741868|PMID:27064304|PMID:27363726|PMID:28492532 10042633 CV186317 NM_000249.4(MLH1):c.791-1G>A variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:15713769|PMID:16199547|PMID:24362816|PMID:25559809|PMID:25741868|PMID:27064304|PMID:27363726|PMID:28492532 10042634 CV186318 NM_000249.4(MLH1):c.976del (p.Val326fs) variant DOID:0070274 hereditary nonpolyposis colorectal cancer type 2 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 2 10042635 CV186429 NM_001005242.3(PKP2):c.253_256del (p.Glu85fs) variant DOID:0050431 arrhythmogenic right ventricular cardiomyopathy IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:15489853|PMID:17010805|PMID:17041889|PMID:20400443|PMID:23183494|PMID:23911551|PMID:24125834|PMID:24704780|PMID:25741868|PMID:25765472|PMID:25820315|PMID:26743238|PMID:26850880|PMID:27332903|PMID:27532257|PMID:28492532|PMID:28588093|PMID:29038103|PMID:29884292|PMID:30571190|PMID:30677492|PMID:30678776|PMID:30700137|PMID:30790397|PMID:32268277|PMID:34120153|PMID:34135346|PMID:38489124 10042635 CV186429 NM_001005242.3(PKP2):c.253_256del (p.Glu85fs) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:15489853|PMID:17010805|PMID:17041889|PMID:20400443|PMID:23183494|PMID:23911551|PMID:24125834|PMID:24704780|PMID:25741868|PMID:25765472|PMID:25820315|PMID:26743238|PMID:26850880|PMID:27332903|PMID:27532257|PMID:28492532|PMID:28588093|PMID:29038103|PMID:29884292|PMID:30571190|PMID:30677492|PMID:30678776|PMID:30700137|PMID:30790397|PMID:32268277|PMID:34120153|PMID:34135346|PMID:38489124 10042635 CV186429 NM_001005242.3(PKP2):c.253_256del (p.Glu85fs) variant DOID:0110077 arrhythmogenic right ventricular dysplasia 9 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9 PMID:15489853|PMID:17010805|PMID:17041889|PMID:20400443|PMID:23183494|PMID:23911551|PMID:24125834|PMID:24704780|PMID:25741868|PMID:25765472|PMID:25820315|PMID:26743238|PMID:26850880|PMID:27332903|PMID:27532257|PMID:28492532|PMID:28588093|PMID:29038103|PMID:29884292|PMID:30571190|PMID:30677492|PMID:30678776|PMID:30700137|PMID:30790397|PMID:32268277|PMID:34120153|PMID:34135346|PMID:38489124 10042635 CV186429 NM_001005242.3(PKP2):c.253_256del (p.Glu85fs) variant DOID:9007820 Sudden Death IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Sudden unexplained death PMID:15489853|PMID:17010805|PMID:17041889|PMID:20400443|PMID:23183494|PMID:23911551|PMID:24125834|PMID:24704780|PMID:25741868|PMID:25765472|PMID:25820315|PMID:26743238|PMID:26850880|PMID:27332903|PMID:27532257|PMID:28492532|PMID:28588093|PMID:29038103|PMID:29884292|PMID:30571190|PMID:30677492|PMID:30678776|PMID:30700137|PMID:30790397|PMID:32268277|PMID:34120153|PMID:34135346|PMID:38489124 10042636 CV186427 NM_001005242.3(PKP2):c.337-2A>T variant DOID:0050431 arrhythmogenic right ventricular cardiomyopathy IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia PMID:15489853|PMID:16199547|PMID:17041889|PMID:23671136|PMID:23871885|PMID:23911551|PMID:24033266|PMID:26314686|PMID:27532257|PMID:28492532|PMID:31386562 10042636 CV186427 NM_001005242.3(PKP2):c.337-2A>T variant DOID:0110077 arrhythmogenic right ventricular dysplasia 9 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 PMID:15489853|PMID:16199547|PMID:17041889|PMID:23671136|PMID:23871885|PMID:23911551|PMID:24033266|PMID:26314686|PMID:27532257|PMID:28492532|PMID:31386562 10042637 CV186425 NM_001005242.3(PKP2):c.1170+1G>A variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:15489853|PMID:16199547|PMID:20400443|PMID:23911551|PMID:25741868|PMID:26887364|PMID:28492532 10042637 CV186425 NM_001005242.3(PKP2):c.1170+1G>A variant DOID:0110077 arrhythmogenic right ventricular dysplasia 9 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 PMID:15489853|PMID:16199547|PMID:20400443|PMID:23911551|PMID:25741868|PMID:26887364|PMID:28492532 10042638 CV186424 NM_001005242.3(PKP2):c.1177C>T (p.Gln393Ter) variant DOID:0110077 arrhythmogenic right ventricular dysplasia 9 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 PMID:15489853|PMID:17041889|PMID:23812740|PMID:23911551|PMID:25741868|PMID:27532257|PMID:28492532 10042641 CV186649 NM_001164508.2(NEB):c.2784del (p.Asp929fs) variant DOID:0070336 arthrogryposis multiplex congenita-6 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 6 PMID:16917880|PMID:25205138|PMID:25741868|PMID:26197980|PMID:28492532 10042641 CV186649 NM_001164508.2(NEB):c.2784del (p.Asp929fs) variant DOID:0110928 nemaline myopathy 2 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 2 PMID:16917880|PMID:25205138|PMID:25741868|PMID:26197980|PMID:28492532 10042641 CV186649 NM_001164508.2(NEB):c.2784del (p.Asp929fs) variant DOID:3191 nemaline myopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nemaline myopathy PMID:16917880|PMID:25205138|PMID:25741868|PMID:26197980|PMID:28492532 10042642 CV186823 NM_000543.5(SMPD1):c.96G>A (p.Trp32Ter) variant DOID:0070111 Niemann-Pick disease type A IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type A PMID:12369017|PMID:15221801|PMID:15241805|PMID:16010684|PMID:16264060|PMID:17876723|PMID:18625664|PMID:23252888|PMID:25741868|PMID:26499107|PMID:26790753|PMID:28492532|PMID:8053910 10042642 CV186823 NM_000543.5(SMPD1):c.96G>A (p.Trp32Ter) variant DOID:0070112 Niemann-Pick disease type B IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type B PMID:12369017|PMID:15221801|PMID:15241805|PMID:16010684|PMID:16264060|PMID:17876723|PMID:18625664|PMID:23252888|PMID:25741868|PMID:26499107|PMID:26790753|PMID:28492532|PMID:8053910 10042642 CV186823 NM_000543.5(SMPD1):c.96G>A (p.Trp32Ter) variant DOID:14504 Niemann-Pick disease IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: SPHINGOMYELINASE DEFICIENCY PMID:12369017|PMID:15221801|PMID:15241805|PMID:16010684|PMID:16264060|PMID:17876723|PMID:18625664|PMID:23252888|PMID:25741868|PMID:26499107|PMID:26790753|PMID:28492532|PMID:8053910 10042643 CV186636 NM_000110.4(DPYD):c.61C>T (p.Arg21Ter) variant DOID:14218 dihydropyrimidine dehydrogenase deficiency IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency PMID:11783493|PMID:12562666|PMID:17121937|PMID:24648345|PMID:25741868 10042645 CV186635 NM_000110.4(DPYD):c.2043_2058del (p.Leu682fs) variant DOID:14218 dihydropyrimidine dehydrogenase deficiency IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency PMID:22353294|PMID:25741868|PMID:32973300 10042647 CV186828 NM_000543.5(SMPD1):c.1805G>A (p.Arg602His) variant DOID:0070111 Niemann-Pick disease type A IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis PMID:12369017|PMID:12712061|PMID:15234149|PMID:15241805|PMID:15545621|PMID:16010684|PMID:18052040|PMID:21098024|PMID:25741868|PMID:26499107|PMID:27338287|PMID:27725636|PMID:28492532|PMID:33675270 10042647 CV186828 NM_000543.5(SMPD1):c.1805G>A (p.Arg602His) variant DOID:0070112 Niemann-Pick disease type B IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis PMID:12369017|PMID:12712061|PMID:15234149|PMID:15241805|PMID:15545621|PMID:16010684|PMID:18052040|PMID:21098024|PMID:25741868|PMID:26499107|PMID:27338287|PMID:27725636|PMID:28492532|PMID:33675270 10042648 CV186827 NM_000543.5(SMPD1):c.1430C>T (p.Pro477Leu) variant DOID:0070111 Niemann-Pick disease type A IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis PMID:12369017|PMID:12556236|PMID:12712061|PMID:15221801|PMID:15234149|PMID:17011332|PMID:22818240|PMID:25741868|PMID:27338287|PMID:28492532 10042648 CV186827 NM_000543.5(SMPD1):c.1430C>T (p.Pro477Leu) variant DOID:0070112 Niemann-Pick disease type B IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis PMID:12369017|PMID:12556236|PMID:12712061|PMID:15221801|PMID:15234149|PMID:17011332|PMID:22818240|PMID:25741868|PMID:27338287|PMID:28492532 10042649 CV186825 NM_000543.5(SMPD1):c.538_539del (p.Leu180fs) variant DOID:0070111 Niemann-Pick disease type A IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis PMID:12369017|PMID:1301192|PMID:15221801|PMID:15877209|PMID:1618760|PMID:17011332|PMID:25741868|PMID:26499107|PMID:28492532 10042649 CV186825 NM_000543.5(SMPD1):c.538_539del (p.Leu180fs) variant DOID:0070112 Niemann-Pick disease type B IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis PMID:12369017|PMID:1301192|PMID:15221801|PMID:15877209|PMID:1618760|PMID:17011332|PMID:25741868|PMID:26499107|PMID:28492532 10042650 CV186824 NM_000543.5(SMPD1):c.518dup (p.Ser174fs) variant DOID:0070111 Niemann-Pick disease type A IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis PMID:12369017|PMID:15221801|PMID:25741868|PMID:28492532|PMID:33675270 10042650 CV186824 NM_000543.5(SMPD1):c.518dup (p.Ser174fs) variant DOID:0070112 Niemann-Pick disease type B IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis PMID:12369017|PMID:15221801|PMID:25741868|PMID:28492532|PMID:33675270 10042651 CV187130 NM_003573.2(LTBP4):c.254del (p.Leu85fs) variant DOID:0070139 autosomal recessive cutis laxa type IC IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities PMID:19836010|PMID:22829427|PMID:24033266|PMID:28492532 10042652 CV187104 NM_001122764.3(PPOX):c.199del (p.Ala66_Leu67insTer) variant DOID:4346 variegate porphyria IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Variegate porphyria PMID:10486317|PMID:24033266|PMID:25714468|PMID:25741868|PMID:28492532 10042653 CV187421 NC_000023.11:g.(?_154030366)_(154030659_?)del variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Rett's disorder PMID:17089071 10042654 CV187504 NM_001110792.2(MECP2):c.1048_1229del (p.Thr350fs) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:34837432 10042655 CV187493 NM_001110792.2(MECP2):c.1048_1238del (p.Thr350fs) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:11402105|PMID:34837432 10042656 CV187425 NM_004992.3(MECP2):c.(?_1017)_(1397_?)del variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Rett's disorder PMID:16183801 10042657 CV187418 nsv1197494 variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Rett's disorder PMID:15712379 10042658 CV187525 NM_001110792.2(MECP2):c.1064_1194del (p.Gly355fs) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:22277191|PMID:34837432 10042661 CV187423 NM_004992.3(MECP2):c.(?_1044)_(1442_?)del variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Rett's disorder PMID:23810759 10042662 CV187487 NM_001110792.2(MECP2):c.1082_1242del (p.Ser361fs) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:16473305|PMID:34837432 10042663 CV187499 NM_001110792.2(MECP2):c.1084_1235del (p.Ser362fs) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:17089071|PMID:34837432 10042664 CV187498 NM_001110792.2(MECP2):c.1088_1236del (p.Pro363fs) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:34837432 10042665 CV187484 NM_001110792.2(MECP2):c.1093_1255del (p.Gly365fs) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:12180070|PMID:15173251|PMID:34837432 10042666 CV187455 NM_001110792.2(MECP2):c.1114_*2524del (p.Ser372fs) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:16473305|PMID:34837432 10042667 CV187496 NM_001110792.2(MECP2):c.1132_1237del (p.His378fs) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:11241840|PMID:34837432 10042668 CV187465 NM_001110792.2(MECP2):c.1133_*13del (p.His378_Ter499delinsXaa) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:11241840|PMID:34837432 10042669 CV187490 NM_001110792.2(MECP2):c.1133_1239del (p.His378fs) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:34837432 10042670 CV187495 NM_001110792.2(MECP2):c.1137_1237del (p.His379fs) variant DOID:0111932 severe congenital encephalopathy due to MECP2 mutation IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:10745042|PMID:20301670|PMID:23262346|PMID:25741868|PMID:34837432 10042670 CV187495 NM_001110792.2(MECP2):c.1137_1237del (p.His379fs) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:10745042|PMID:20301670|PMID:23262346|PMID:25741868|PMID:34837432 10042671 CV187426 NM_004992.3(MECP2):c.1101_(1396_?)del variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Rett's disorder PMID:17387578 10042672 CV187482 NM_001110792.2(MECP2):c.1141_1261del (p.His381fs) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:16473305|PMID:34837432 10042673 CV187474 NM_001110792.2(MECP2):c.1151_1362del (p.His384fs) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:15737703|PMID:34837432 10042674 CV187506 NM_001110792.2(MECP2):c.1157_1227del (p.Glu386fs) variant DOID:0111932 severe congenital encephalopathy due to MECP2 mutation IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:12075485|PMID:28492532|PMID:32860008|PMID:34837432 10042674 CV187506 NM_001110792.2(MECP2):c.1157_1227del (p.Glu386fs) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:12075485|PMID:28492532|PMID:32860008|PMID:34837432 10042675 CV187492 NM_001110792.2(MECP2):c.1159_1238del (p.Ser387fs) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:34837432 10042676 CV187518 NM_001110792.2(MECP2):c.1163_1215del (p.Pro388fs) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:11524737|PMID:11524741|PMID:12180070|PMID:17089071|PMID:34837432 10042678 CV187491 NM_001110792.2(MECP2):c.1168_1238del (p.Ala390fs) variant DOID:0111932 severe congenital encephalopathy due to MECP2 mutation IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:11241840|PMID:15737703|PMID:19914908|PMID:28492532|PMID:34837432 10042678 CV187491 NM_001110792.2(MECP2):c.1168_1238del (p.Ala390fs) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:11241840|PMID:15737703|PMID:19914908|PMID:28492532|PMID:34837432 10042679 CV187481 NM_001110792.2(MECP2):c.1178_1263del (p.Pro393fs) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:20098342|PMID:34837432 10042680 CV187463 NM_001110792.2(MECP2):c.1188_*29del (p.Pro396_Ter499delinsXaa) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:23262346|PMID:34837432 10042681 CV187456 NM_001110792.2(MECP2):c.1193_*944del (p.Leu398fs) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:16473305|PMID:34837432 10042682 CV187486 NM_001110792.2(MECP2):c.1195_1246del (p.Pro399fs) variant DOID:0070657 congenital variant of Rett syndrome IAGP D RGD:8554872 20251007 ClinVar ClinVar Annotator: match by term: Atypical Rett syndrome PMID:11283202|PMID:28492532|PMID:32860008|PMID:34837432 10042682 CV187486 NM_001110792.2(MECP2):c.1195_1246del (p.Pro399fs) variant DOID:0111932 severe congenital encephalopathy due to MECP2 mutation IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:11283202|PMID:28492532|PMID:32860008|PMID:34837432 10042682 CV187486 NM_001110792.2(MECP2):c.1195_1246del (p.Pro399fs) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:11283202|PMID:28492532|PMID:32860008|PMID:34837432 10042682 CV187486 NM_001110792.2(MECP2):c.1195_1246del (p.Pro399fs) variant DOID:1932 Angelman syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Angelman syndrome PMID:11283202|PMID:28492532|PMID:32860008|PMID:34837432 10042682 CV187486 NM_001110792.2(MECP2):c.1195_1246del (p.Pro399fs) variant DOID:9001325 Rett Syndrome, Atypical IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Atypical Rett syndrome PMID:11283202|PMID:28492532|PMID:32860008|PMID:34837432 10042683 CV187467 NM_001110792.2(MECP2):c.1195_1494del (p.Pro399_Ser498del) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:16473305|PMID:34837432 10042684 CV187462 NM_001110792.2(MECP2):c.1199_*39del (p.Pro400fs) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:11241840|PMID:34837432 10042685 CV187502 NM_001110792.2(MECP2):c.1200_1230del (p.Pro403fs) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:21982064|PMID:34837432 10042686 CV187424 NM_004992.3(MECP2):c.(?_1169)_(1397_?)del variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Rett's disorder PMID:16183801 10042687 CV187516 NM_001110792.2(MECP2):c.1216_1217insT (p.Glu406fs) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:34837432 10042688 CV187477 NM_001110792.2(MECP2):c.1232_1302del (p.Pro411fs) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:12180070|PMID:34837432 10042689 CV187420 NC_000023.11:g.(?_154030366)_(154030492_?)del variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Rett's disorder PMID:17026625 10042691 CV187633 NM_004992.3:c.(?_184)_(1065_?)del variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Rett's disorder PMID:23810759 10042692 CV187634 NM_004992.3(MECP2):c.(?_-226)_(*1_?)del variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Rett's disorder PMID:15841480|PMID:16080119|PMID:16829352 10042693 CV187417 NM_004992.3(MECP2):c.(?_-226)_26+?del variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Rett's disorder PMID:15712379|PMID:16183801|PMID:16630165|PMID:16829352|PMID:17026625|PMID:17089071|PMID:21212452 10042694 CV187432 NM_004992.3(MECP2):c.(?_248)_(320_?)del variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Rett's disorder PMID:21812101 10042696 CV187635 NM_004992.3:c.(?_27)_(378_1461)del variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Rett's disorder 10042697 CV187636 NM_004992.3:c.(?_27)_(*1_?)del variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Rett's disorder PMID:12872251|PMID:14974082|PMID:15000811|PMID:15712379|PMID:15737703|PMID:16183801|PMID:16473305|PMID:16630165|PMID:17026625|PMID:17089071|PMID:22525432 10042698 CV187637 NM_004992.3:c.(?_27)_(*8554_?)del variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Rett's disorder PMID:17387578 10042699 CV187638 NM_004992.3:c.(?_27)_(1018_?)del variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Rett's disorder PMID:16183801 10042700 CV187639 NM_004992.3:c.(?_27)_(1021_?)del variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Rett's disorder PMID:17089071 10042701 CV187640 NM_004992.3:c.(?_27)_(1029_?)del variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Rett's disorder PMID:22001500 10042702 CV187641 NM_004992.3:c.(?_27)_(1170_?)del variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Rett's disorder PMID:17089071 10042703 CV187642 NM_004992.3:c.(?_27)_(1185_?)del variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Rett's disorder PMID:17026625 10042704 CV187643 NM_004992.3:c.(?_27)_(1337_?)del variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Rett's disorder PMID:17026625 10042705 CV187644 NM_004992.3:c.(?_27)_(1397_?)del variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Rett's disorder PMID:16183801 10042706 CV187431 NM_004992.3(MECP2):c.(?_27)_(367_?)del variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Rett's disorder PMID:21871116 10042707 CV187645 NM_004992.3:c.(?_27)_(378_?)del variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Rett's disorder PMID:14974082 10042708 CV187454 NM_004992.3(MECP2):c.27-12521_*5072del variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Rett's disorder PMID:15712379 10042709 CV187515 NM_001110792.2(MECP2):c.63-3928_1220del variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:14974082|PMID:34837432 10042714 CV187508 NM_001110792.2(MECP2):c.63-6214_1227del variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:12872251|PMID:34837432 10042715 CV187488 NM_001110792.2(MECP2):c.63-94_1243del variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:14974082|PMID:34837432 10042716 CV187556 NM_001110792.2(MECP2):c.354_357dup (p.Leu120fs) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:22525432|PMID:34837432 10042717 CV187646 NM_004992.3:c.343_1182del variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Rett's disorder PMID:19652677 10042718 CV187422 NC_000023.11:g.(?_154030366)_(154031450_?)del variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Rett's disorder PMID:14974082|PMID:16183801|PMID:16473305 10042719 CV187429 NM_004992.3(MECP2):c.(?_378)_(1170_?)del variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Rett's disorder PMID:17089071 10042720 CV187428 NM_004992.3(MECP2):c.(?_378)_(1185_?)del variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Rett's disorder PMID:17026625 10042721 CV187427 NM_004992.3(MECP2):c.(?_378)_(1337_?)del variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Rett's disorder PMID:17026625 10042722 CV187466 NM_001110792.2(MECP2):c.414_1497del (p.Pro139fs) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:16630165|PMID:34837432 10042723 CV187510 NM_001110792.2(MECP2):c.418_1225del (p.Gln140fs) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:16473305|PMID:34837432 10042724 CV187526 NM_001110792.2(MECP2):c.445_1194del (p.Glu149_Leu398del) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:22277191|PMID:34837432 10042726 CV187509 NM_001110792.2(MECP2):c.524_1225del (p.Gly175_Ser408del) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:16473305|PMID:34837432 10042727 CV187551 NM_001110792.2(MECP2):c.538C>A (p.Arg180=) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:21954873|PMID:34837432 10042728 CV187531 NM_001110792.2(MECP2):c.652_1158del (p.Gly218_Glu386del) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:15737703|PMID:34837432 10042729 CV187475 NM_001110792.2(MECP2):c.747_1305del (p.Gly250fs) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:16473305|PMID:34837432 10042730 CV187523 NM_001110792.2(MECP2):c.767_1202del (p.Gln256fs) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:11214906|PMID:34837432 10042731 CV187547 NM_001110792.2(MECP2):c.802A>T (p.Lys268Ter) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:23810759|PMID:34837432 10042732 CV187519 NM_001110792.2(MECP2):c.803_1211del (p.Lys268fs) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:23262346|PMID:34837432 10042733 CV187546 NM_001110792.2(MECP2):c.821_854del (p.Gln274fs) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:10944854|PMID:34837432 10042735 CV187514 NM_001110792.2(MECP2):c.858_1220del (p.Val287_Ser407del) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:16473305|PMID:34837432 10042736 CV187545 NM_004992.3(MECP2):c.830_831ins23 (p.?) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Rett's disorder PMID:16473305 10042737 CV187479 NM_001110792.2(MECP2):c.885_1272del (p.Lys296fs) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:10944854|PMID:34837432 10042738 CV187512 NM_001110792.2(MECP2):c.887_1224del (p.Lys296fs) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:16473305|PMID:34837432 10042742 CV187537 NM_001110792.2(MECP2):c.907_1080del (p.Ile305_Ser362del) variant DOID:0111932 severe congenital encephalopathy due to MECP2 mutation IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:10944854|PMID:15737703|PMID:16225173|PMID:22277191|PMID:28492532|PMID:34837432 10042742 CV187537 NM_001110792.2(MECP2):c.907_1080del (p.Ile305_Ser362del) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:10944854|PMID:15737703|PMID:16225173|PMID:22277191|PMID:28492532|PMID:34837432 10042743 CV187534 NM_001110792.2(MECP2):c.930_1131del (p.Glu310fs) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:12180070|PMID:34837432 10042744 CV187532 NM_001110792.2(MECP2):c.934_1135del (p.Val312fs) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:11524737|PMID:34837432 10042746 CV187521 NM_001110792.2(MECP2):c.950_1208del (p.Lys317fs) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:10944854|PMID:34837432 10042748 CV187416 NM_004992.3(MECP2):c.-98-?_377+?del variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Rett's disorder PMID:15173251 10042749 CV187472 NM_001110792.2(MECP2):c.1030_1382del (p.Ser344fs) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:34837432 10042750 CV187433 NM_004992.3(MECP2):c.(?_1)_26+?dup variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Rett's disorder PMID:16473305 10042751 CV187538 NM_001110792.2(MECP2):c.1066C>G (p.Arg356Gly) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:21940684|PMID:34837432 10042753 CV187527 NM_001110792.2(MECP2):c.1097_1192del (p.Arg366_Pro397del) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:12065946|PMID:34837432 10042754 CV187535 NM_001110792.2(MECP2):c.1101C>A (p.Ser367Arg) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:21940684|PMID:34837432 10042755 CV187533 NM_001110792.2(MECP2):c.1129_1131del (p.Glu377del) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:21954873|PMID:34837432 10042756 CV187489 NM_001110792.2(MECP2):c.1153_1239del (p.Ser385_Ser413del) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:21982064|PMID:34837432 10042757 CV187505 NM_001110792.2(MECP2):c.1159_1227del (p.Ser387_Glu409del) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:10745042|PMID:34837432 10042758 CV187511 NM_001110792.2(MECP2):c.1189_1224del (p.Pro397_Ser408del) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:22476991|PMID:34837432 10042759 CV187522 NM_001110792.2(MECP2):c.1191_1202del (p.Leu398_Pro401del) variant DOID:0111932 severe congenital encephalopathy due to MECP2 mutation IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:23262346|PMID:28492532|PMID:34837432 10042759 CV187522 NM_001110792.2(MECP2):c.1191_1202del (p.Leu398_Pro401del) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:23262346|PMID:28492532|PMID:34837432 10042760 CV187524 NM_004992.3(MECP2):c.1159_1160ins300 (p.?) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Rett's disorder PMID:16473305 10042762 CV187485 NM_001110792.2(MECP2):c.1199_1252del (p.Pro400_Pro417del) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:34837432 10042764 CV187435 NM_004992.3(MECP2):c.(?_-226)_-99+?del variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Rett's disorder 10042765 CV187430 NM_004992.3(MECP2):c.(?_631)_(657_?)dup (p.(?)) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Rett's disorder PMID:15241799 10042766 CV187571 NM_001110792.2(MECP2):c.1A>G (p.Met1Val) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:19365833|PMID:34837432 10042770 CV187561 NM_001110792.2(MECP2):c.47_57del (p.Gly16fs) variant DOID:0111932 severe congenital encephalopathy due to MECP2 mutation IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:12180070|PMID:15034579|PMID:15689438|PMID:15857422|PMID:16155192|PMID:17968969|PMID:22213695|PMID:23810759|PMID:25741868|PMID:28492532|PMID:31139143|PMID:34837432 10042770 CV187561 NM_001110792.2(MECP2):c.47_57del (p.Gly16fs) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:12180070|PMID:15034579|PMID:15689438|PMID:15857422|PMID:16155192|PMID:17968969|PMID:22213695|PMID:23810759|PMID:25741868|PMID:28492532|PMID:31139143|PMID:34837432 10042771 CV187562 NM_001110792.2(MECP2):c.48_55del (p.Glu18fs) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:23810759|PMID:25741868|PMID:34837432 10042772 CV187563 NM_001110792.2(MECP2):c.48_55dup (p.Glu19fs) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:16829352|PMID:34837432 10042773 CV187565 NM_001110792.2(MECP2):c.48C>T (p.Gly16=) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:23866855|PMID:25741868|PMID:34837432 10042773 CV187565 NM_001110792.2(MECP2):c.48C>T (p.Gly16=) variant DOID:630 genetic disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23866855|PMID:25741868|PMID:34837432 10042775 CV187559 NM_001110792.2(MECP2):c.62+1G>A variant DOID:0111932 severe congenital encephalopathy due to MECP2 mutation IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:12180070|PMID:15737703|PMID:16199547|PMID:28492532|PMID:34837432 10042775 CV187559 NM_001110792.2(MECP2):c.62+1G>A variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:12180070|PMID:15737703|PMID:16199547|PMID:28492532|PMID:34837432 10042777 CV187434 NM_001110792.1(MECP2):c.(?_1)_(62_?)del variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Rett's disorder PMID:15034579|PMID:16183801|PMID:16829352|PMID:23810759 10042778 CV186784 NM_054012.4(ASS1):c.1138C>T (p.Gln380Ter) variant DOID:0070340 classic citrullinemia IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Citrullinemia type I PMID:11738042|PMID:12815590|PMID:18473344|PMID:19006241|PMID:28492532 10042778 CV186784 NM_054012.4(ASS1):c.1138C>T (p.Gln380Ter) variant DOID:9273 citrullinemia IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Citrullinemia PMID:11738042|PMID:12815590|PMID:18473344|PMID:19006241|PMID:28492532 10042779 CV186782 NM_054012.4(ASS1):c.892del (p.Glu298fs) variant DOID:0070340 classic citrullinemia IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Citrullinemia type I PMID:12815590|PMID:15863597|PMID:18473344|PMID:19006241|PMID:24508627|PMID:25433810|PMID:25741868|PMID:28111830|PMID:28492532 10042779 CV186782 NM_054012.4(ASS1):c.892del (p.Glu298fs) variant DOID:9273 citrullinemia IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Citrullinemia PMID:12815590|PMID:15863597|PMID:18473344|PMID:19006241|PMID:24508627|PMID:25433810|PMID:25741868|PMID:28111830|PMID:28492532 10042780 CV186783 NM_054012.4(ASS1):c.1030C>T (p.Arg344Ter) variant DOID:0070340 classic citrullinemia IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Citrullinemia type I PMID:18473344|PMID:19006241|PMID:25741868|PMID:28111830|PMID:28492532 10042780 CV186783 NM_054012.4(ASS1):c.1030C>T (p.Arg344Ter) variant DOID:9273 citrullinemia IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Citrullinemia PMID:18473344|PMID:19006241|PMID:25741868|PMID:28111830|PMID:28492532 10042781 CV186781 NM_054012.4(ASS1):c.450_451del (p.Phe150fs) variant DOID:0070340 classic citrullinemia IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Citrullinemia type I PMID:18473344|PMID:19006241|PMID:24508627|PMID:25741868|PMID:28111830|PMID:28492532 10042781 CV186781 NM_054012.4(ASS1):c.450_451del (p.Phe150fs) variant DOID:9273 citrullinemia IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Citrullinuria PMID:18473344|PMID:19006241|PMID:24508627|PMID:25741868|PMID:28111830|PMID:28492532 10042782 CV187223 NM_001750.7(CAST):c.730dup (p.Ile244fs) variant DOID:0070526 PLACK syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads PMID:25683118 10042783 CV187225 NM_001750.7(CAST):c.1873del (p.Val625fs) variant DOID:0070526 PLACK syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads PMID:25683118|PMID:3527073 10042784 CV187231 NM_001282225.2(ADA2):c.1078A>G (p.Thr360Ala) variant DOID:13096 Sneddon syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Idiopathic livedo reticularis with systemic involvement PMID:12804991|PMID:25075847|PMID:25741868|PMID:28492532|PMID:28522451|PMID:30647181|PMID:31393689 10042784 CV187231 NM_001282225.2(ADA2):c.1078A>G (p.Thr360Ala) variant DOID:9008412 Polyarteritis Nodosa, Childhood-Onset IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset PMID:12804991|PMID:25075847|PMID:25741868|PMID:28492532|PMID:28522451|PMID:30647181|PMID:31393689 10042785 CV187232 NM_001282225.2(ADA2):c.1147G>A (p.Gly383Ser) variant DOID:13096 Sneddon syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Idiopathic livedo reticularis with systemic involvement PMID:25075847|PMID:25741868|PMID:28492532 10042785 CV187232 NM_001282225.2(ADA2):c.1147G>A (p.Gly383Ser) variant DOID:9008412 Polyarteritis Nodosa, Childhood-Onset IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset PMID:25075847|PMID:25741868|PMID:28492532 10042786 CV187270 NC_000007.13:g.153649777_153985995del variant DOID:0070063 autosomal dominant intellectual developmental disorder 33 IAGP D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 33 PMID:23832105 10042787 CV187396 NM_001103.4(ACTN2):c.683T>C (p.Met228Thr) variant DOID:0110428 dilated cardiomyopathy 1AA IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1AA PMID:25173926|PMID:29875424|PMID:31956495 10042788 CV172289 NM_003392.7(WNT5A):c.257A>G (p.Tyr86Cys) variant DOID:0060766 autosomal dominant Robinow syndrome 1 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 1 PMID:24716670|PMID:28492532 10042789 CV172291 NM_003392.7(WNT5A):c.206G>A (p.Cys69Tyr) variant DOID:0060766 autosomal dominant Robinow syndrome 1 IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Robinow syndrome, autosomal dominant 1 PMID:24716670|PMID:25326635|PMID:25741868 10042790 CV187250 NM_001382567.1(STIM1):c.239A>C (p.Asn80Thr) variant DOID:0060354 Stormorken syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Stormorken syndrome PMID:25326555|PMID:28492532 10042790 CV187250 NM_001382567.1(STIM1):c.239A>C (p.Asn80Thr) variant DOID:0080089 tubular aggregate myopathy 1 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Myopathy, tubular aggregate, 1 PMID:25326555|PMID:28492532 10042791 CV187258 NM_001375405.1(CEP120):c.595G>C (p.Ala199Pro) variant DOID:0110093 short-rib thoracic dysplasia 13 with or without polydactyly IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 13 with or without polydactyly PMID:25361962|PMID:25741868|PMID:27208211|PMID:28492532|PMID:29847808 10042792 CV187269 NM_130797.4(DPP6):c.1153A>C (p.Met385Leu) variant DOID:0070063 autosomal dominant intellectual developmental disorder 33 IAGP D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 33 PMID:23832105 10042794 CV187661 NM_001164688.2(RD3):c.180C>A (p.Tyr60Ter) variant DOID:0110080 Leber congenital amaurosis 12 IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 12 PMID:22531706|PMID:25741868|PMID:25787132 10042794 CV187661 NM_001164688.2(RD3):c.180C>A (p.Tyr60Ter) variant DOID:14791 Leber congenital amaurosis IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:22531706|PMID:25741868|PMID:25787132 10042795 CV187663 NM_001164688.2(RD3):c.137_138del (p.Glu46fs) variant DOID:0110080 Leber congenital amaurosis 12 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 12 PMID:23308101 10042796 CV187665 NM_003816.3(ADAM9):c.1396-2A>G variant DOID:0111020 cone-rod dystrophy 9 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 9 PMID:25091951 10042797 CV186043 NM_000038.6(APC):c.6196A>G (p.Arg2066Gly) variant DOID:0050424 familial adenomatous polyposis IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL PMID:18199528|PMID:21859464|PMID:25741868|PMID:28492532|PMID:28526081 10042797 CV186043 NM_000038.6(APC):c.6196A>G (p.Arg2066Gly) variant DOID:0080409 familial adenomatous polyposis 1 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:18199528|PMID:21859464|PMID:25741868|PMID:28492532|PMID:28526081 10042797 CV186043 NM_000038.6(APC):c.6196A>G (p.Arg2066Gly) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:18199528|PMID:21859464|PMID:25741868|PMID:28492532|PMID:28526081 10042798 CV186037 NM_000038.6(APC):c.4765C>T (p.Arg1589Cys) variant DOID:0050424 familial adenomatous polyposis IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Classic or attenuated familial adenomatous polyposis PMID:18199528|PMID:25741868|PMID:25815427|PMID:26178707|PMID:26467025|PMID:28492532|PMID:29141224|PMID:31552911|PMID:32070411|PMID:35534218 10042798 CV186037 NM_000038.6(APC):c.4765C>T (p.Arg1589Cys) variant DOID:0080409 familial adenomatous polyposis 1 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:18199528|PMID:25741868|PMID:25815427|PMID:26178707|PMID:26467025|PMID:28492532|PMID:29141224|PMID:31552911|PMID:32070411|PMID:35534218 10042798 CV186037 NM_000038.6(APC):c.4765C>T (p.Arg1589Cys) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:18199528|PMID:25741868|PMID:25815427|PMID:26178707|PMID:26467025|PMID:28492532|PMID:29141224|PMID:31552911|PMID:32070411|PMID:35534218 10042799 CV186008 NM_000551.4(VHL):c.29A>T (p.Glu10Val) variant DOID:0060474 familial erythrocytosis 2 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Chuvash polycythemia PMID:25741868|PMID:28492532 10042799 CV186008 NM_000551.4(VHL):c.29A>T (p.Glu10Val) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532 10042800 CV186042 NM_000038.6(APC):c.5762G>T (p.Gly1921Val) variant DOID:0080409 familial adenomatous polyposis 1 IAGP D RGD:8554872 20190226 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:28492532 10042800 CV186042 NM_000038.6(APC):c.5762G>T (p.Gly1921Val) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:28492532 10042801 CV186027 NM_000038.6(APC):c.925G>T (p.Gly309Ter) variant DOID:0080409 familial adenomatous polyposis 1 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:23085758|PMID:28492532 10042802 CV186045 NM_000038.6(APC):c.7193C>T (p.Ser2398Phe) variant DOID:0050424 familial adenomatous polyposis IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL PMID:25559809|PMID:25741868|PMID:26467025|PMID:27153395|PMID:28492532|PMID:29684080 10042802 CV186045 NM_000038.6(APC):c.7193C>T (p.Ser2398Phe) variant DOID:0080409 familial adenomatous polyposis 1 IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:25559809|PMID:25741868|PMID:26467025|PMID:27153395|PMID:28492532|PMID:29684080 10042802 CV186045 NM_000038.6(APC):c.7193C>T (p.Ser2398Phe) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25559809|PMID:25741868|PMID:26467025|PMID:27153395|PMID:28492532|PMID:29684080 10042803 CV186038 NM_000038.6(APC):c.5213A>C (p.His1738Pro) variant DOID:0050424 familial adenomatous polyposis IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Classic or attenuated familial adenomatous polyposis PMID:25741868|PMID:28492532|PMID:33309985|PMID:35189564 10042803 CV186038 NM_000038.6(APC):c.5213A>C (p.His1738Pro) variant DOID:0080409 familial adenomatous polyposis 1 IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:25741868|PMID:28492532|PMID:33309985|PMID:35189564 10042803 CV186038 NM_000038.6(APC):c.5213A>C (p.His1738Pro) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532|PMID:33309985|PMID:35189564 10042804 CV186039 NM_000038.6(APC):c.5430T>G (p.Asp1810Glu) variant DOID:0050424 familial adenomatous polyposis IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL PMID:25741868|PMID:26467025|PMID:28492532|PMID:28944238 10042804 CV186039 NM_000038.6(APC):c.5430T>G (p.Asp1810Glu) variant DOID:0080409 familial adenomatous polyposis 1 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:25741868|PMID:26467025|PMID:28492532|PMID:28944238 10042804 CV186039 NM_000038.6(APC):c.5430T>G (p.Asp1810Glu) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:26467025|PMID:28492532|PMID:28944238 10042805 CV186032 NM_000038.6(APC):c.2716T>G (p.Ser906Ala) variant DOID:0080409 familial adenomatous polyposis 1 IAGP D RGD:8554872 20190226 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:28492532 10042806 CV186031 NM_000038.6(APC):c.2534G>A (p.Arg845His) variant DOID:0050424 familial adenomatous polyposis IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL PMID:22395475|PMID:25741868|PMID:28492532|PMID:31403082 10042806 CV186031 NM_000038.6(APC):c.2534G>A (p.Arg845His) variant DOID:0080409 familial adenomatous polyposis 1 IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:22395475|PMID:25741868|PMID:28492532|PMID:31403082 10042806 CV186031 NM_000038.6(APC):c.2534G>A (p.Arg845His) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:22395475|PMID:25741868|PMID:28492532|PMID:31403082 10042807 CV186041 NM_000038.6(APC):c.5692A>G (p.Thr1898Ala) variant DOID:0080409 familial adenomatous polyposis 1 IAGP D RGD:8554872 20190226 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:28492532 10042807 CV186041 NM_000038.6(APC):c.5692A>G (p.Thr1898Ala) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:28492532 10042808 CV186030 NM_000038.6(APC):c.2240C>T (p.Ser747Leu) variant DOID:0050424 familial adenomatous polyposis IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Classic or attenuated familial adenomatous polyposis PMID:25741868|PMID:26467025|PMID:28492532|PMID:29245953|PMID:30374176 10042808 CV186030 NM_000038.6(APC):c.2240C>T (p.Ser747Leu) variant DOID:0080409 familial adenomatous polyposis 1 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:25741868|PMID:26467025|PMID:28492532|PMID:29245953|PMID:30374176 10042808 CV186030 NM_000038.6(APC):c.2240C>T (p.Ser747Leu) variant DOID:0111349 hereditary desmoid disease IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Desmoid disease, hereditary PMID:25741868|PMID:26467025|PMID:28492532|PMID:29245953|PMID:30374176 10042808 CV186030 NM_000038.6(APC):c.2240C>T (p.Ser747Leu) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:26467025|PMID:28492532|PMID:29245953|PMID:30374176 10042810 CV186035 NM_000038.6(APC):c.3830T>G (p.Leu1277Ter) variant DOID:0080409 familial adenomatous polyposis 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:1316610|PMID:22135120|PMID:23159591|PMID:27081525|PMID:28492532|PMID:8381579|PMID:9824584 10042811 CV186036 NM_000038.6(APC):c.4175C>A (p.Ser1392Ter) variant DOID:0080409 familial adenomatous polyposis 1 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:17963004|PMID:20685668|PMID:28492532 10042812 CV186044 NM_000038.6(APC):c.6966G>C (p.Gln2322His) variant DOID:0050424 familial adenomatous polyposis IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL PMID:21520333|PMID:25741868|PMID:27153395|PMID:28492532 10042812 CV186044 NM_000038.6(APC):c.6966G>C (p.Gln2322His) variant DOID:0080409 familial adenomatous polyposis 1 IAGP D RGD:8554872 20190226 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:21520333|PMID:25741868|PMID:27153395|PMID:28492532 10042812 CV186044 NM_000038.6(APC):c.6966G>C (p.Gln2322His) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:21520333|PMID:25741868|PMID:27153395|PMID:28492532 10042813 CV186028 NM_000038.6(APC):c.1262G>A (p.Trp421Ter) variant DOID:0080409 familial adenomatous polyposis 1 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:20924072|PMID:26467025|PMID:28492532 10042813 CV186028 NM_000038.6(APC):c.1262G>A (p.Trp421Ter) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:20924072|PMID:26467025|PMID:28492532 10042814 CV186029 NM_000038.6(APC):c.1588G>A (p.Val530Met) variant DOID:0050424 familial adenomatous polyposis IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL PMID:25741868|PMID:28492532 10042814 CV186029 NM_000038.6(APC):c.1588G>A (p.Val530Met) variant DOID:0080409 familial adenomatous polyposis 1 IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:25741868|PMID:28492532 10042814 CV186029 NM_000038.6(APC):c.1588G>A (p.Val530Met) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532 10042815 CV186009 NM_000551.4(VHL):c.167C>T (p.Ala56Val) variant DOID:0060474 familial erythrocytosis 2 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Chuvash polycythemia PMID:25741868|PMID:28492532|PMID:29748190 10042815 CV186009 NM_000551.4(VHL):c.167C>T (p.Ala56Val) variant DOID:14175 von Hippel-Lindau disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Von Hippel-Lindau syndrome PMID:25741868|PMID:28492532|PMID:29748190 10042815 CV186009 NM_000551.4(VHL):c.167C>T (p.Ala56Val) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532|PMID:29748190 10042816 CV186026 NM_000038.6(APC):c.647G>A (p.Arg216Gln) variant DOID:0050424 familial adenomatous polyposis IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: APC-Associated Polyposis Disorders PMID:18199528|PMID:21859464|PMID:25741868|PMID:26332594|PMID:26467025|PMID:28135145|PMID:28492532|PMID:35264596|PMID:36243179 10042816 CV186026 NM_000038.6(APC):c.647G>A (p.Arg216Gln) variant DOID:0080409 familial adenomatous polyposis 1 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:18199528|PMID:21859464|PMID:25741868|PMID:26332594|PMID:26467025|PMID:28135145|PMID:28492532|PMID:35264596|PMID:36243179 10042816 CV186026 NM_000038.6(APC):c.647G>A (p.Arg216Gln) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:18199528|PMID:21859464|PMID:25741868|PMID:26332594|PMID:26467025|PMID:28135145|PMID:28492532|PMID:35264596|PMID:36243179 10042817 CV186040 NM_000038.6(APC):c.5573G>A (p.Arg1858Gln) variant DOID:0050424 familial adenomatous polyposis IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL PMID:25741868|PMID:28492532 10042817 CV186040 NM_000038.6(APC):c.5573G>A (p.Arg1858Gln) variant DOID:0080409 familial adenomatous polyposis 1 IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:25741868|PMID:28492532 10042817 CV186040 NM_000038.6(APC):c.5573G>A (p.Arg1858Gln) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532 10042818 CV186034 NM_000038.6(APC):c.3314G>A (p.Arg1105Gln) variant DOID:0050424 familial adenomatous polyposis IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL PMID:25741868|PMID:28492532 10042818 CV186034 NM_000038.6(APC):c.3314G>A (p.Arg1105Gln) variant DOID:0080409 familial adenomatous polyposis 1 IAGP D RGD:8554872 20190226 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:25741868|PMID:28492532 10042818 CV186034 NM_000038.6(APC):c.3314G>A (p.Arg1105Gln) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532 10042829 CV187315 NM_000314.8(PTEN):c.-666G>A variant DOID:0060867 macrocephaly-autism syndrome IAGP D RGD:8554872 20190604 ClinVar ClinVar Annotator: match by term: Macrocephaly/autism syndrome PMID:25741868 10042831 CV187310 NM_000314.8(PTEN):c.-701G>A variant DOID:0050657 Cowden syndrome 1 IAGP D RGD:8554872 20250909 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome 10042831 CV187310 NM_000314.8(PTEN):c.-701G>A variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome 10042832 CV187306 NM_000314.8(PTEN):c.-734G>A variant DOID:0050657 Cowden syndrome 1 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Cowden syndrome 1 PMID:25741868 10042834 CV187261 NM_025132.4(WDR19):c.203T>A (p.Val68Asp) variant DOID:9004444 Senior-Loken Syndrome 8 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Senior-loken syndrome 8 PMID:23683095 10042835 CV187262 NM_025132.4(WDR19):c.407-2A>G variant DOID:9004444 Senior-Loken Syndrome 8 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Senior-loken syndrome 8 PMID:23683095 10042836 CV187128 NM_000080.4(CHRNE):c.1033-2A>T variant DOID:0110678 congenital myasthenic syndrome 4A IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4A PMID:14532324|PMID:16199547|PMID:16550914|PMID:22678886|PMID:24033266|PMID:25741868|PMID:28492532 10042836 CV187128 NM_000080.4(CHRNE):c.1033-2A>T variant DOID:0110679 congenital myasthenic syndrome 4C IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4C PMID:14532324|PMID:16199547|PMID:16550914|PMID:22678886|PMID:24033266|PMID:25741868|PMID:28492532 10042840 CV187623 NM_001323289.2(CDKL5):c.2308C>A (p.Gln770Lys) variant DOID:0080467 developmental and epileptic encephalopathy 2 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: CDKL5 disorder PMID:23064044|PMID:34837432 10042841 CV187624 NM_001323289.2(CDKL5):c.2389G>A (p.Asp797Asn) variant DOID:0080467 developmental and epileptic encephalopathy 2 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:22867051|PMID:28492532|PMID:34837432 10042841 CV187624 NM_001323289.2(CDKL5):c.2389G>A (p.Asp797Asn) variant DOID:630 genetic disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22867051|PMID:28492532|PMID:34837432 10042842 CV187627 NM_001323289.2(CDKL5):c.2673G>A (p.Gln891=) variant DOID:0080467 developmental and epileptic encephalopathy 2 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:25741868|PMID:28492532|PMID:34837432 10042843 CV187630 NM_000330.4(RS1):c.185-3208C>T variant DOID:0080467 developmental and epileptic encephalopathy 2 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:23064044|PMID:28492532|PMID:34837432 10042844 CV187588 NM_001323289.2(CDKL5):c.333A>G (p.Lys111=) variant DOID:0080467 developmental and epileptic encephalopathy 2 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:23064044|PMID:28492532|PMID:34837432 10042845 CV187592 NM_001323289.2(CDKL5):c.404-53T>C variant DOID:0080467 developmental and epileptic encephalopathy 2 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: CDKL5 disorder PMID:19241098|PMID:34837432 10042846 CV187594 NM_001323289.2(CDKL5):c.405T>C (p.Asp135=) variant DOID:0080467 developmental and epileptic encephalopathy 2 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: CDKL5 disorder PMID:23064044|PMID:34837432 10042847 CV187575 NM_003159.2(CDKL5):c.-426C>G variant DOID:0080467 developmental and epileptic encephalopathy 2 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: CDKL5 disorder PMID:22867051|PMID:34837432 10042848 CV187602 NM_001323289.2(CDKL5):c.573C>G (p.Ser191=) variant DOID:0080467 developmental and epileptic encephalopathy 2 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:23064044|PMID:28492532|PMID:34837432 10042849 CV187579 NM_001323289.2(CDKL5):c.64+26G>A variant DOID:0080467 developmental and epileptic encephalopathy 2 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: CDKL5 disorder PMID:34837432 10042850 CV187581 NM_001323289.2(CDKL5):c.99+34A>G variant DOID:0080467 developmental and epileptic encephalopathy 2 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: CDKL5 disorder PMID:23064044|PMID:34837432 10042851 CV187590 NM_001323289.2(CDKL5):c.403+27A>G variant DOID:0080467 developmental and epileptic encephalopathy 2 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: CDKL5 disorder PMID:22867051|PMID:34837432 10042852 CV187607 NM_001323289.2(CDKL5):c.978-49_978-41del variant DOID:0080467 developmental and epileptic encephalopathy 2 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: CDKL5 disorder PMID:16611748|PMID:34837432 10042853 CV187585 NM_001323289.2(CDKL5):c.214_216del (p.Ile72del) variant DOID:0080467 developmental and epileptic encephalopathy 2 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: CDKL5 disorder PMID:23064044|PMID:34837432 10042854 CV187436 NC_000023.11:g.(?_18425605)_(18425695_?)del variant DOID:0080467 developmental and epileptic encephalopathy 2 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 PMID:19793311|PMID:21770923 10042855 CV187597 NM_001323289.2(CDKL5):c.473G>C (p.Arg158Pro) variant DOID:0080467 developmental and epileptic encephalopathy 2 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:21309761|PMID:34837432 10042856 CV187578 NM_001323289.2(CDKL5):c.59G>A (p.Gly20Asp) variant DOID:0080467 developmental and epileptic encephalopathy 2 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:20397747|PMID:23064044|PMID:28492532|PMID:29420175|PMID:30266825|PMID:34837432 10042857 CV187603 NM_001323289.2(CDKL5):c.656A>C (p.Gln219Pro) variant DOID:0070657 congenital variant of Rett syndrome IAGP D RGD:8554872 20251007 ClinVar ClinVar Annotator: match by term: Atypical Rett syndrome PMID:23151060|PMID:34837432 10042857 CV187603 NM_001323289.2(CDKL5):c.656A>C (p.Gln219Pro) variant DOID:0080467 developmental and epileptic encephalopathy 2 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: CDKL5 disorder PMID:23151060|PMID:34837432 10042857 CV187603 NM_001323289.2(CDKL5):c.656A>C (p.Gln219Pro) variant DOID:630 genetic disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23151060|PMID:34837432 10042857 CV187603 NM_001323289.2(CDKL5):c.656A>C (p.Gln219Pro) variant DOID:9001325 Rett Syndrome, Atypical IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Atypical Rett syndrome PMID:23151060|PMID:34837432 10042858 CV187448 NM_003159.2(CDKL5):c.100-?_145+?del variant DOID:0080467 developmental and epileptic encephalopathy 2 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 PMID:21293276 10042859 CV187608 NM_001323289.2(CDKL5):c.1008_1029del (p.Ser337fs) variant DOID:0080467 developmental and epileptic encephalopathy 2 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:23064044|PMID:34837432 10042860 CV187609 NM_001323289.2(CDKL5):c.1071del (p.Asp357fs) variant DOID:0080467 developmental and epileptic encephalopathy 2 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: CDKL5 disorder PMID:23064044|PMID:34837432 10042861 CV187610 NM_001323289.2(CDKL5):c.1090G>T (p.Glu364Ter) variant DOID:0070657 congenital variant of Rett syndrome IAGP D RGD:8554872 20251007 ClinVar ClinVar Annotator: match by term: Atypical Rett syndrome PMID:22430159|PMID:34837432 10042861 CV187610 NM_001323289.2(CDKL5):c.1090G>T (p.Glu364Ter) variant DOID:0080467 developmental and epileptic encephalopathy 2 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: CDKL5 disorder PMID:22430159|PMID:34837432 10042861 CV187610 NM_001323289.2(CDKL5):c.1090G>T (p.Glu364Ter) variant DOID:9001325 Rett Syndrome, Atypical IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Atypical Rett syndrome PMID:22430159|PMID:34837432 10042863 CV187613 NM_001323289.2(CDKL5):c.1341del (p.Phe447fs) variant DOID:0070657 congenital variant of Rett syndrome IAGP D RGD:8554872 20251007 ClinVar ClinVar Annotator: match by term: Atypical Rett syndrome PMID:34837432 10042863 CV187613 NM_001323289.2(CDKL5):c.1341del (p.Phe447fs) variant DOID:0080467 developmental and epileptic encephalopathy 2 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: CDKL5 disorder PMID:34837432 10042863 CV187613 NM_001323289.2(CDKL5):c.1341del (p.Phe447fs) variant DOID:9001325 Rett Syndrome, Atypical IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Atypical Rett syndrome PMID:34837432 10042864 CV187614 NM_001323289.2(CDKL5):c.1375C>T (p.Gln459Ter) variant DOID:0070657 congenital variant of Rett syndrome IAGP D RGD:8554872 20251007 ClinVar ClinVar Annotator: match by term: Atypical Rett syndrome PMID:22872100|PMID:22982301|PMID:28492532|PMID:34837432 10042864 CV187614 NM_001323289.2(CDKL5):c.1375C>T (p.Gln459Ter) variant DOID:0080467 developmental and epileptic encephalopathy 2 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:22872100|PMID:22982301|PMID:28492532|PMID:34837432 10042864 CV187614 NM_001323289.2(CDKL5):c.1375C>T (p.Gln459Ter) variant DOID:9001325 Rett Syndrome, Atypical IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Atypical Rett syndrome PMID:22872100|PMID:22982301|PMID:28492532|PMID:34837432 10042865 CV187615 NM_001323289.2(CDKL5):c.1417dup (p.Ile473fs) variant DOID:0070657 congenital variant of Rett syndrome IAGP D RGD:8554872 20251007 ClinVar ClinVar Annotator: match by term: Atypical Rett syndrome PMID:34837432 10042865 CV187615 NM_001323289.2(CDKL5):c.1417dup (p.Ile473fs) variant DOID:0080467 developmental and epileptic encephalopathy 2 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: CDKL5 disorder PMID:34837432 10042865 CV187615 NM_001323289.2(CDKL5):c.1417dup (p.Ile473fs) variant DOID:9001325 Rett Syndrome, Atypical IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Atypical Rett syndrome PMID:34837432 10042866 CV187616 NM_001323289.2(CDKL5):c.1432_1433insT (p.Arg478fs) variant DOID:0080467 developmental and epileptic encephalopathy 2 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: CDKL5 disorder PMID:23064044|PMID:34837432 10042867 CV187449 NM_003159.2(CDKL5):c.146-?_*85del variant DOID:0080467 developmental and epileptic encephalopathy 2 IAGP D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 PMID:21770923|PMID:21802232 10042868 CV187617 NM_001323289.2(CDKL5):c.1550del (p.Phe517fs) variant DOID:0070657 congenital variant of Rett syndrome IAGP D RGD:8554872 20251007 ClinVar ClinVar Annotator: match by term: Atypical Rett syndrome PMID:34837432 10042868 CV187617 NM_001323289.2(CDKL5):c.1550del (p.Phe517fs) variant DOID:0080467 developmental and epileptic encephalopathy 2 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: CDKL5 disorder PMID:34837432 10042868 CV187617 NM_001323289.2(CDKL5):c.1550del (p.Phe517fs) variant DOID:9001325 Rett Syndrome, Atypical IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Atypical Rett syndrome PMID:34837432 10042869 CV187446 NM_003159.2(CDKL5):c.-162-?_*85del variant DOID:0080467 developmental and epileptic encephalopathy 2 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 PMID:19780792 10042870 CV187445 NM_003159.2(CDKL5):c.-162-?_145+?del variant DOID:0080467 developmental and epileptic encephalopathy 2 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 PMID:19471977 10042871 CV187443 NM_003159.2(CDKL5):c.-162-?_64+?del variant DOID:0080467 developmental and epileptic encephalopathy 2 IAGP D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 PMID:22832775 10042872 CV187444 NM_003159.2(CDKL5):c.-162-?_99+?del variant DOID:0070657 congenital variant of Rett syndrome IAGP D RGD:8554872 20251007 ClinVar ClinVar Annotator: match by term: Atypical Rett syndrome PMID:19241098|PMID:19471977 10042872 CV187444 NM_003159.2(CDKL5):c.-162-?_99+?del variant DOID:0080467 developmental and epileptic encephalopathy 2 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 PMID:19241098|PMID:19471977 10042872 CV187444 NM_003159.2(CDKL5):c.-162-?_99+?del variant DOID:9001325 Rett Syndrome, Atypical IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Atypical Rett syndrome PMID:19241098|PMID:19471977 10042873 CV187577 NM_001323289.2(CDKL5):c.-162-2A>G variant DOID:0080467 developmental and epileptic encephalopathy 2 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:19793311|PMID:34837432 10042874 CV187618 NM_001323289.2(CDKL5):c.1784dup (p.Leu596fs) variant DOID:0080467 developmental and epileptic encephalopathy 2 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:21765152|PMID:34837432 10042875 CV187619 NM_001323289.2(CDKL5):c.1854del (p.Asp618fs) variant DOID:0070657 congenital variant of Rett syndrome IAGP D RGD:8554872 20251007 ClinVar ClinVar Annotator: match by term: Atypical Rett syndrome PMID:22430159|PMID:34837432 10042875 CV187619 NM_001323289.2(CDKL5):c.1854del (p.Asp618fs) variant DOID:0080467 developmental and epileptic encephalopathy 2 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: CDKL5 disorder PMID:22430159|PMID:34837432 10042875 CV187619 NM_001323289.2(CDKL5):c.1854del (p.Asp618fs) variant DOID:9001325 Rett Syndrome, Atypical IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Atypical Rett syndrome PMID:22430159|PMID:34837432 10042876 CV187620 NM_001323289.2(CDKL5):c.2046+1G>A variant DOID:0070657 congenital variant of Rett syndrome IAGP D RGD:8554872 20251007 ClinVar ClinVar Annotator: match by term: Atypical Rett syndrome PMID:16199547|PMID:22872100|PMID:22982301|PMID:24564546|PMID:28492532|PMID:31487502|PMID:33436160|PMID:34837432 10042876 CV187620 NM_001323289.2(CDKL5):c.2046+1G>A variant DOID:0080467 developmental and epileptic encephalopathy 2 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:16199547|PMID:22872100|PMID:22982301|PMID:24564546|PMID:28492532|PMID:31487502|PMID:33436160|PMID:34837432 10042876 CV187620 NM_001323289.2(CDKL5):c.2046+1G>A variant DOID:9001325 Rett Syndrome, Atypical IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Atypical Rett syndrome PMID:16199547|PMID:22872100|PMID:22982301|PMID:24564546|PMID:28492532|PMID:31487502|PMID:33436160|PMID:34837432 10042877 CV187584 NM_001323289.2(CDKL5):c.207_213del (p.Glu70fs) variant DOID:0080467 developmental and epileptic encephalopathy 2 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:22832775|PMID:34837432 10042879 CV187622 NM_001323289.2(CDKL5):c.2277-2A>G variant DOID:0080467 developmental and epileptic encephalopathy 2 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:22812903|PMID:34837432 10042880 CV187452 NM_003159.2(CDKL5):c.2377-?_*85del variant DOID:0080467 developmental and epileptic encephalopathy 2 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 PMID:21770923 10042881 CV187625 NM_001323289.2(CDKL5):c.2494C>T (p.Gln832Ter) variant DOID:0080467 developmental and epileptic encephalopathy 2 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:23647072|PMID:34837432 10042882 CV187453 NM_003159.2(CDKL5):c.2497-?_*85del variant DOID:0080467 developmental and epileptic encephalopathy 2 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 PMID:18564362 10042883 CV187632 NM_003159.2(CDKL5):c.(?_-253)_(*85_?)del variant DOID:0080467 developmental and epileptic encephalopathy 2 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 PMID:19780792|PMID:20493745|PMID:21770923|PMID:22832775 10042884 CV187442 NM_003159.2(CDKL5):c.(?_-253)_-162-27968del variant DOID:0070657 congenital variant of Rett syndrome IAGP D RGD:8554872 20251007 ClinVar ClinVar Annotator: match by term: Atypical Rett syndrome PMID:19455595 10042884 CV187442 NM_003159.2(CDKL5):c.(?_-253)_-162-27968del variant DOID:9001325 Rett Syndrome, Atypical IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Atypical Rett syndrome PMID:19455595 10042885 CV187441 NC_000023.11:g.(?_18425605)_(18613275_?)del variant DOID:0080467 developmental and epileptic encephalopathy 2 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 PMID:21293276 10042886 CV187437 NC_000023.11:g.(?_18425605)_(18507160_?)del variant DOID:0070657 congenital variant of Rett syndrome IAGP D RGD:8554872 20251007 ClinVar ClinVar Annotator: match by term: Atypical Rett syndrome 10042886 CV187437 NC_000023.11:g.(?_18425605)_(18507160_?)del variant DOID:9001325 Rett Syndrome, Atypical IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Atypical Rett syndrome 10042887 CV187439 NC_000023.11:g.(?_18425605)_(18595428_?)del variant DOID:0080467 developmental and epileptic encephalopathy 2 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 PMID:19780792 10042888 CV187440 NC_000023.11:g.(?_18425605)_(18598613_?)del variant DOID:0080467 developmental and epileptic encephalopathy 2 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 PMID:17256798 10042889 CV187438 NC_000023.11:g.(?_18425605)_(18510854_?)del variant DOID:0070657 congenital variant of Rett syndrome IAGP D RGD:8554872 20251007 ClinVar ClinVar Annotator: match by term: Atypical Rett syndrome PMID:19471977|PMID:19807736|PMID:21293276 10042889 CV187438 NC_000023.11:g.(?_18425605)_(18510854_?)del variant DOID:0080467 developmental and epileptic encephalopathy 2 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 PMID:19471977|PMID:19807736|PMID:21293276 10042889 CV187438 NC_000023.11:g.(?_18425605)_(18510854_?)del variant DOID:9001325 Rett Syndrome, Atypical IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Atypical Rett syndrome PMID:19471977|PMID:19807736|PMID:21293276 10042890 CV187626 NM_001323289.2(CDKL5):c.2531dup (p.His844fs) variant DOID:0080467 developmental and epileptic encephalopathy 2 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: CDKL5 disorder PMID:23064044|PMID:34837432 10042891 CV187628 NM_001323289.2(CDKL5):c.2704C>T (p.Gln902Ter) variant DOID:0070657 congenital variant of Rett syndrome IAGP D RGD:8554872 20251007 ClinVar ClinVar Annotator: match by term: Atypical Rett syndrome PMID:34837432 10042891 CV187628 NM_001323289.2(CDKL5):c.2704C>T (p.Gln902Ter) variant DOID:0080467 developmental and epileptic encephalopathy 2 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: CDKL5 disorder PMID:34837432 10042891 CV187628 NM_001323289.2(CDKL5):c.2704C>T (p.Gln902Ter) variant DOID:9001325 Rett Syndrome, Atypical IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Atypical Rett syndrome PMID:34837432 10042892 CV187586 NM_001323289.2(CDKL5):c.275_276insAA (p.Glu93fs) variant DOID:0080467 developmental and epileptic encephalopathy 2 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:21765152|PMID:34837432 10042893 CV187587 NM_001323289.2(CDKL5):c.283-3_290del variant DOID:0070657 congenital variant of Rett syndrome IAGP D RGD:8554872 20251007 ClinVar ClinVar Annotator: match by term: Atypical Rett syndrome PMID:21765152|PMID:23151060|PMID:34837432 10042893 CV187587 NM_001323289.2(CDKL5):c.283-3_290del variant DOID:0080467 developmental and epileptic encephalopathy 2 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:21765152|PMID:23151060|PMID:34837432 10042893 CV187587 NM_001323289.2(CDKL5):c.283-3_290del variant DOID:9001325 Rett Syndrome, Atypical IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Atypical Rett syndrome PMID:21765152|PMID:23151060|PMID:34837432 10042894 CV187589 NM_001323289.2(CDKL5):c.403+1G>A variant DOID:0070657 congenital variant of Rett syndrome IAGP D RGD:8554872 20251007 ClinVar ClinVar Annotator: match by term: Atypical Rett syndrome PMID:22982301|PMID:25741868|PMID:34837432 10042894 CV187589 NM_001323289.2(CDKL5):c.403+1G>A variant DOID:0080467 developmental and epileptic encephalopathy 2 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:22982301|PMID:25741868|PMID:34837432 10042894 CV187589 NM_001323289.2(CDKL5):c.403+1G>A variant DOID:9001325 Rett Syndrome, Atypical IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Atypical Rett syndrome PMID:22982301|PMID:25741868|PMID:34837432 10042895 CV187629 NM_000330.4(RS1):c.326+1231G>A variant DOID:0070657 congenital variant of Rett syndrome IAGP D RGD:8554872 20251007 ClinVar ClinVar Annotator: match by term: Atypical Rett syndrome PMID:34837432 10042895 CV187629 NM_000330.4(RS1):c.326+1231G>A variant DOID:0080467 developmental and epileptic encephalopathy 2 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: CDKL5 disorder PMID:34837432 10042895 CV187629 NM_000330.4(RS1):c.326+1231G>A variant DOID:9001325 Rett Syndrome, Atypical IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Atypical Rett syndrome PMID:34837432 10042896 CV187685 NM_000751.3(CHRND):c.1204G>A (p.Glu402Lys) variant DOID:0110664 congenital myasthenic syndrome 3C IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 3C PMID:16916845|PMID:25741868|PMID:28492532 10042896 CV187685 NM_000751.3(CHRND):c.1204G>A (p.Glu402Lys) variant DOID:0110665 congenital myasthenic syndrome 3B IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 3B PMID:16916845|PMID:25741868|PMID:28492532 10042896 CV187685 NM_000751.3(CHRND):c.1204G>A (p.Glu402Lys) variant DOID:9005962 Multiple Pterygium Syndrome, Lethal Type IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Lethal multiple pterygium syndrome PMID:16916845|PMID:25741868|PMID:28492532 10042897 CV187576 NM_001323289.2(CDKL5):c.-189C>T variant DOID:0070657 congenital variant of Rett syndrome IAGP D RGD:8554872 20251007 ClinVar ClinVar Annotator: match by term: Atypical Rett syndrome PMID:16015284|PMID:34837432 10042897 CV187576 NM_001323289.2(CDKL5):c.-189C>T variant DOID:0080467 developmental and epileptic encephalopathy 2 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: CDKL5 disorder PMID:16015284|PMID:34837432 10042897 CV187576 NM_001323289.2(CDKL5):c.-189C>T variant DOID:9001325 Rett Syndrome, Atypical IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Atypical Rett syndrome PMID:16015284|PMID:34837432 10042898 CV187612 NM_001323289.2(CDKL5):c.1266C>A (p.Asp422Glu) variant DOID:0070657 congenital variant of Rett syndrome IAGP D RGD:8554872 20251007 ClinVar ClinVar Annotator: match by term: Atypical Rett syndrome PMID:34837432 10042898 CV187612 NM_001323289.2(CDKL5):c.1266C>A (p.Asp422Glu) variant DOID:0080467 developmental and epileptic encephalopathy 2 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: CDKL5 disorder PMID:34837432 10042898 CV187612 NM_001323289.2(CDKL5):c.1266C>A (p.Asp422Glu) variant DOID:9001325 Rett Syndrome, Atypical IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Atypical Rett syndrome PMID:34837432 10042899 CV187606 NM_001323289.2(CDKL5):c.942del (p.Lys314fs) variant DOID:0070657 congenital variant of Rett syndrome IAGP D RGD:8554872 20251007 ClinVar ClinVar Annotator: match by term: Atypical Rett syndrome PMID:22430159|PMID:34837432 10042899 CV187606 NM_001323289.2(CDKL5):c.942del (p.Lys314fs) variant DOID:0080467 developmental and epileptic encephalopathy 2 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: CDKL5 disorder PMID:22430159|PMID:34837432 10042899 CV187606 NM_001323289.2(CDKL5):c.942del (p.Lys314fs) variant DOID:9001325 Rett Syndrome, Atypical IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Atypical Rett syndrome PMID:22430159|PMID:34837432 10042900 CV187580 NM_001323289.2(CDKL5):c.91A>G (p.Arg31Gly) variant DOID:0080467 developmental and epileptic encephalopathy 2 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:23064044|PMID:34837432 10042901 CV187451 NM_003159.2(CDKL5):c.745-?_825+?del variant DOID:0080467 developmental and epileptic encephalopathy 2 IAGP D RGD:8554872 20190312 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 PMID:22867051 10042902 CV187604 NM_001323289.2(CDKL5):c.660_664dup (p.Thr222fs) variant DOID:0070657 congenital variant of Rett syndrome IAGP D RGD:8554872 20251007 ClinVar ClinVar Annotator: match by term: Atypical Rett syndrome PMID:23151060|PMID:34837432 10042902 CV187604 NM_001323289.2(CDKL5):c.660_664dup (p.Thr222fs) variant DOID:0080467 developmental and epileptic encephalopathy 2 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: CDKL5 disorder PMID:23151060|PMID:34837432 10042902 CV187604 NM_001323289.2(CDKL5):c.660_664dup (p.Thr222fs) variant DOID:9001325 Rett Syndrome, Atypical IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Atypical Rett syndrome PMID:23151060|PMID:34837432 10042903 CV187447 NM_003159.2(CDKL5):c.65-?_99+?del variant DOID:0080467 developmental and epileptic encephalopathy 2 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 PMID:23583054 10042904 CV187601 NM_001323289.2(CDKL5):c.528G>T (p.Trp176Cys) variant DOID:0070657 congenital variant of Rett syndrome IAGP D RGD:8554872 20251007 ClinVar ClinVar Annotator: match by term: Atypical Rett syndrome PMID:23064044|PMID:28492532|PMID:34837432 10042904 CV187601 NM_001323289.2(CDKL5):c.528G>T (p.Trp176Cys) variant DOID:0080467 developmental and epileptic encephalopathy 2 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:23064044|PMID:28492532|PMID:34837432 10042904 CV187601 NM_001323289.2(CDKL5):c.528G>T (p.Trp176Cys) variant DOID:9001325 Rett Syndrome, Atypical IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Atypical Rett syndrome PMID:23064044|PMID:28492532|PMID:34837432 10042905 CV187600 NM_001323289.2(CDKL5):c.526T>G (p.Trp176Gly) variant DOID:0080467 developmental and epileptic encephalopathy 2 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:23064044|PMID:34837432 10042906 CV187599 NM_001323289.2(CDKL5):c.510_511dup (p.Tyr171fs) variant DOID:0070657 congenital variant of Rett syndrome IAGP D RGD:8554872 20251007 ClinVar ClinVar Annotator: match by term: Atypical Rett syndrome PMID:22867051|PMID:34837432 10042906 CV187599 NM_001323289.2(CDKL5):c.510_511dup (p.Tyr171fs) variant DOID:0080467 developmental and epileptic encephalopathy 2 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: CDKL5 disorder PMID:22867051|PMID:34837432 10042906 CV187599 NM_001323289.2(CDKL5):c.510_511dup (p.Tyr171fs) variant DOID:9001325 Rett Syndrome, Atypical IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Atypical Rett syndrome PMID:22867051|PMID:34837432 10042908 CV187596 NM_001323289.2(CDKL5):c.464-1G>A variant DOID:0070657 congenital variant of Rett syndrome IAGP D RGD:8554872 20251007 ClinVar ClinVar Annotator: match by term: Atypical Rett syndrome PMID:22670143|PMID:34837432 10042908 CV187596 NM_001323289.2(CDKL5):c.464-1G>A variant DOID:0080467 developmental and epileptic encephalopathy 2 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: CDKL5 disorder PMID:22670143|PMID:34837432 10042908 CV187596 NM_001323289.2(CDKL5):c.464-1G>A variant DOID:9001325 Rett Syndrome, Atypical IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Atypical Rett syndrome PMID:22670143|PMID:34837432 10042909 CV187595 NM_001323289.2(CDKL5):c.458A>G (p.Asp153Gly) variant DOID:0080467 developmental and epileptic encephalopathy 2 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:19793311|PMID:34837432 10042910 CV187593 NM_001323289.2(CDKL5):c.404-1G>A variant DOID:0080467 developmental and epileptic encephalopathy 2 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:21309761|PMID:34837432 10042911 CV187591 NM_001323289.2(CDKL5):c.403+540_554+61del variant DOID:0080467 developmental and epileptic encephalopathy 2 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 PMID:19780792|PMID:34837432 10042912 CV187450 NM_003159.2(CDKL5):c.404-?_554+?del variant DOID:0070657 congenital variant of Rett syndrome IAGP D RGD:8554872 20251007 ClinVar ClinVar Annotator: match by term: Atypical Rett syndrome PMID:22430159 10042912 CV187450 NM_003159.2(CDKL5):c.404-?_554+?del variant DOID:9001325 Rett Syndrome, Atypical IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Atypical Rett syndrome PMID:22430159 10042914 CV187574 NM_003159.2(CDKL5):c.-440G>T variant DOID:0070657 congenital variant of Rett syndrome IAGP D RGD:8554872 20251007 ClinVar ClinVar Annotator: match by term: Atypical Rett syndrome PMID:16015284|PMID:34837432 10042914 CV187574 NM_003159.2(CDKL5):c.-440G>T variant DOID:0080467 developmental and epileptic encephalopathy 2 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: CDKL5 disorder PMID:16015284|PMID:34837432 10042914 CV187574 NM_003159.2(CDKL5):c.-440G>T variant DOID:9001325 Rett Syndrome, Atypical IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Atypical Rett syndrome PMID:16015284|PMID:34837432 10042916 CV187688 NM_002334.4(LRP4):c.3697G>A (p.Glu1233Lys) variant DOID:0090015 Cenani-Lenz syndactyly syndrome IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cenani-Lenz syndactyly syndrome PMID:24234652|PMID:25741868|PMID:28492532 10042916 CV187688 NM_002334.4(LRP4):c.3697G>A (p.Glu1233Lys) variant DOID:0110674 congenital myasthenic syndrome 17 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 17 PMID:24234652|PMID:25741868|PMID:28492532 10042917 CV187686 NM_000751.3(CHRND):c.901_1048-282del variant DOID:0110664 congenital myasthenic syndrome 3C IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 3C PMID:16916845 10042918 CV187664 NM_001164688.2(RD3):c.136G>T (p.Glu46Ter) variant DOID:0110080 Leber congenital amaurosis 12 IAGP D RGD:8554872 20181009 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 12 PMID:23308101 10042919 CV187662 NM_001164688.2(RD3):c.112C>T (p.Arg38Ter) variant DOID:0110080 Leber congenital amaurosis 12 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: RD3-related condition PMID:23308101|PMID:25741868|PMID:28492532|PMID:31964843|PMID:32083505|PMID:32531858|PMID:34426522|PMID:36460718 10042919 CV187662 NM_001164688.2(RD3):c.112C>T (p.Arg38Ter) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:23308101|PMID:25741868|PMID:28492532|PMID:31964843|PMID:32083505|PMID:32531858|PMID:34426522|PMID:36460718 10042919 CV187662 NM_001164688.2(RD3):c.112C>T (p.Arg38Ter) variant DOID:9008296 Eye Abnormalities IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:23308101|PMID:25741868|PMID:28492532|PMID:31964843|PMID:32083505|PMID:32531858|PMID:34426522|PMID:36460718 10042920 CV187648 NM_021098.3(CACNA1H):c.4645A>G (p.Met1549Val) variant DOID:446 primary hyperaldosteronism IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary hyperaldosteronism PMID:25907736 10042920 CV187648 NM_021098.3(CACNA1H):c.4645A>G (p.Met1549Val) variant DOID:9003950 Familial Hyperaldosteronism, Type IV IAGP D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Hyperaldosteronism, familial, type IV PMID:25907736 10042921 CV186156 NM_001370259.2(MEN1):c.1567G>C (p.Ala523Pro) variant DOID:10017 multiple endocrine neoplasia type 1 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 PMID:25741868|PMID:28492532 10042921 CV186156 NM_001370259.2(MEN1):c.1567G>C (p.Ala523Pro) variant DOID:3125 multiple endocrine neoplasia IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Endocrine adenomatosis multiple PMID:25741868|PMID:28492532 10042921 CV186156 NM_001370259.2(MEN1):c.1567G>C (p.Ala523Pro) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532 10042922 CV186157 NM_001370259.2(MEN1):c.1535C>T (p.Ser512Leu) variant DOID:10017 multiple endocrine neoplasia type 1 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 PMID:25741868|PMID:26767918|PMID:28492532|PMID:30093976 10042922 CV186157 NM_001370259.2(MEN1):c.1535C>T (p.Ser512Leu) variant DOID:13543 hyperparathyroidism IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hyperparathyroidism PMID:25741868|PMID:26767918|PMID:28492532|PMID:30093976 10042922 CV186157 NM_001370259.2(MEN1):c.1535C>T (p.Ser512Leu) variant DOID:3125 multiple endocrine neoplasia IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Endocrine adenomatosis multiple PMID:25741868|PMID:26767918|PMID:28492532|PMID:30093976 10042922 CV186157 NM_001370259.2(MEN1):c.1535C>T (p.Ser512Leu) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:26767918|PMID:28492532|PMID:30093976 10042924 CV186158 NM_001370259.2(MEN1):c.1409C>T (p.Pro470Leu) variant DOID:10017 multiple endocrine neoplasia type 1 IAGP D RGD:8554872 20180807 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 PMID:25741868|PMID:28492532 10042924 CV186158 NM_001370259.2(MEN1):c.1409C>T (p.Pro470Leu) variant DOID:13543 hyperparathyroidism IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Hyperparathyroidism PMID:25741868|PMID:28492532 10042924 CV186158 NM_001370259.2(MEN1):c.1409C>T (p.Pro470Leu) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20180807 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532 10042925 CV186155 NM_001370259.2(MEN1):c.1637C>T (p.Pro546Leu) variant DOID:10017 multiple endocrine neoplasia type 1 IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 PMID:25741868|PMID:28492532 10042925 CV186155 NM_001370259.2(MEN1):c.1637C>T (p.Pro546Leu) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532 10042926 CV186189 NM_000257.4(MYH7):c.2735A>T (p.Lys912Met) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:21310275|PMID:28492532 10042927 CV186190 NM_000257.4(MYH7):c.2481G>C (p.Trp827Cys) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:20624503|PMID:21310275|PMID:28492532 10042928 CV186019 NM_016599.5(MYOZ2):c.773T>A (p.Val258Glu) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 10042929 CV186288 NM_020433.5(JPH2):c.1204G>A (p.Glu402Lys) variant DOID:0080326 familial hypertrophic cardiomyopathy IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532|PMID:30615648|PMID:38757491 10042929 CV186288 NM_020433.5(JPH2):c.1204G>A (p.Glu402Lys) variant DOID:0081161 dilated cardiomyopathy 2E IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2E PMID:24033266|PMID:25741868|PMID:28492532|PMID:30615648|PMID:38757491 10042929 CV186288 NM_020433.5(JPH2):c.1204G>A (p.Glu402Lys) variant DOID:0110307 hypertrophic cardiomyopathy 1 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:24033266|PMID:25741868|PMID:28492532|PMID:30615648|PMID:38757491 10042929 CV186288 NM_020433.5(JPH2):c.1204G>A (p.Glu402Lys) variant DOID:0110323 hypertrophic cardiomyopathy 17 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 17 PMID:24033266|PMID:25741868|PMID:28492532|PMID:30615648|PMID:38757491 10042929 CV186288 NM_020433.5(JPH2):c.1204G>A (p.Glu402Lys) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532|PMID:30615648|PMID:38757491 10042932 CV187699 NM_004168.4(SDHA):c.295C>T (p.His99Tyr) variant DOID:9007167 Carney Triad IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Carney triad 10042933 CV187697 NM_003001.5(SDHC):c.6del (p.Ala3fs) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome 10042933 CV187697 NM_003001.5(SDHC):c.6del (p.Ala3fs) variant DOID:9007167 Carney Triad IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Carney triad 10042934 CV187698 NM_003001.5(SDHC):c.224G>A (p.Gly75Asp) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:19351833|PMID:21822798|PMID:26173966|PMID:28492532 10042934 CV187698 NM_003001.5(SDHC):c.224G>A (p.Gly75Asp) variant DOID:9007167 Carney Triad IAGP D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Carney triad PMID:19351833|PMID:21822798|PMID:26173966|PMID:28492532 10042934 CV187698 NM_003001.5(SDHC):c.224G>A (p.Gly75Asp) variant DOID:9253 gastrointestinal stromal tumor IAGP D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor PMID:19351833|PMID:21822798|PMID:26173966|PMID:28492532 10042935 CV187891 Single allele variant DOID:10595 Charcot-Marie-Tooth disease IAGP D RGD:8554872 20181009 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:25648254 10042936 CV187892 Single allele variant DOID:10595 Charcot-Marie-Tooth disease IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:25648254 10042937 CV187893 Single allele variant DOID:10595 Charcot-Marie-Tooth disease IAGP D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:25648254 10042938 CV186227 NM_015272.5(RPGRIP1L):c.1709dup (p.Asp571fs) variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:17558409|PMID:25741868|PMID:26092869|PMID:28492532 10042938 CV186227 NM_015272.5(RPGRIP1L):c.1709dup (p.Asp571fs) variant DOID:0050778 Meckel syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:17558409|PMID:25741868|PMID:26092869|PMID:28492532 10042938 CV186227 NM_015272.5(RPGRIP1L):c.1709dup (p.Asp571fs) variant DOID:0070115 Meckel syndrome 1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Dysencephalia splachnocystica PMID:17558409|PMID:25741868|PMID:26092869|PMID:28492532 10042938 CV186227 NM_015272.5(RPGRIP1L):c.1709dup (p.Asp571fs) variant DOID:0070119 Meckel syndrome 5 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 5 PMID:17558409|PMID:25741868|PMID:26092869|PMID:28492532 10042938 CV186227 NM_015272.5(RPGRIP1L):c.1709dup (p.Asp571fs) variant DOID:0110980 Joubert syndrome 1 IAGP D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:17558409|PMID:25741868|PMID:26092869|PMID:28492532 10042938 CV186227 NM_015272.5(RPGRIP1L):c.1709dup (p.Asp571fs) variant DOID:0111002 Joubert syndrome 7 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Joubert syndrome 7 PMID:17558409|PMID:25741868|PMID:26092869|PMID:28492532 10042938 CV186227 NM_015272.5(RPGRIP1L):c.1709dup (p.Asp571fs) variant DOID:9007694 COACH Syndrome 3 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: COACH syndrome 3 PMID:17558409|PMID:25741868|PMID:26092869|PMID:28492532 10042939 CV186228 NM_015272.5(RPGRIP1L):c.230+1G>A variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16199547|PMID:17558409|PMID:25741868|PMID:28492532 10042939 CV186228 NM_015272.5(RPGRIP1L):c.230+1G>A variant DOID:0111002 Joubert syndrome 7 IAGP D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Joubert syndrome 7 PMID:16199547|PMID:17558409|PMID:25741868|PMID:28492532 10042940 CV186012 NM_015141.4(GPD1L):c.947G>C (p.Gly316Ala) variant DOID:0050451 Brugada syndrome IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:28492532 10042942 CV186432 NM_004004.6(GJB2):c.355G>A (p.Glu119Lys) variant DOID:0110475 autosomal recessive nonsyndromic deafness 1A IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1A PMID:12172394|PMID:12792423|PMID:15365987|PMID:15656949|PMID:17666888|PMID:20301449|PMID:25388846|PMID:25741868|PMID:26467025|PMID:27153395|PMID:28428247|PMID:28492532|PMID:30311386|PMID:31160754 10042942 CV186432 NM_004004.6(GJB2):c.355G>A (p.Glu119Lys) variant DOID:0110564 autosomal dominant nonsyndromic deafness 3A IAGP D RGD:8554872 20250723 ClinVar ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 3A PMID:12172394|PMID:12792423|PMID:15365987|PMID:15656949|PMID:17666888|PMID:20301449|PMID:25388846|PMID:25741868|PMID:26467025|PMID:27153395|PMID:28428247|PMID:28492532|PMID:30311386|PMID:31160754 10042942 CV186432 NM_004004.6(GJB2):c.355G>A (p.Glu119Lys) variant DOID:10003 sensorineural hearing loss IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Sensorineural hearing loss disorder PMID:12172394|PMID:12792423|PMID:15365987|PMID:15656949|PMID:17666888|PMID:20301449|PMID:25388846|PMID:25741868|PMID:26467025|PMID:27153395|PMID:28428247|PMID:28492532|PMID:30311386|PMID:31160754 10042942 CV186432 NM_004004.6(GJB2):c.355G>A (p.Glu119Lys) variant DOID:9004538 Hearing Loss IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Hearing loss PMID:12172394|PMID:12792423|PMID:15365987|PMID:15656949|PMID:17666888|PMID:20301449|PMID:25388846|PMID:25741868|PMID:26467025|PMID:27153395|PMID:28428247|PMID:28492532|PMID:30311386|PMID:31160754 10042942 CV186432 NM_004004.6(GJB2):c.355G>A (p.Glu119Lys) variant DOID:9008762 HID Syndrome IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Hystrix-like ichthyosis with deafness PMID:12172394|PMID:12792423|PMID:15365987|PMID:15656949|PMID:17666888|PMID:20301449|PMID:25388846|PMID:25741868|PMID:26467025|PMID:27153395|PMID:28428247|PMID:28492532|PMID:30311386|PMID:31160754 10042943 CV186859 NM_004004.6(GJB2):c.246C>G (p.Ile82Met) variant DOID:0050563 nonsyndromic deafness IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:12112666|PMID:15964725|PMID:16300957|PMID:16380907|PMID:20234132|PMID:22567152|PMID:25741868|PMID:28492532|PMID:30311386 10042943 CV186859 NM_004004.6(GJB2):c.246C>G (p.Ile82Met) variant DOID:0050658 Bart-Pumphrey syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Bart-Pumphrey syndrome PMID:12112666|PMID:15964725|PMID:16300957|PMID:16380907|PMID:20234132|PMID:22567152|PMID:25741868|PMID:28492532|PMID:30311386 10042943 CV186859 NM_004004.6(GJB2):c.246C>G (p.Ile82Met) variant DOID:0060871 autosomal dominant keratitis-ichthyosis-deafness syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Keratitis-ichthyosis-deafness syndrome, autosomal dominant PMID:12112666|PMID:15964725|PMID:16300957|PMID:16380907|PMID:20234132|PMID:22567152|PMID:25741868|PMID:28492532|PMID:30311386 10042943 CV186859 NM_004004.6(GJB2):c.246C>G (p.Ile82Met) variant DOID:0110475 autosomal recessive nonsyndromic deafness 1A IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1A PMID:12112666|PMID:15964725|PMID:16300957|PMID:16380907|PMID:20234132|PMID:22567152|PMID:25741868|PMID:28492532|PMID:30311386 10042943 CV186859 NM_004004.6(GJB2):c.246C>G (p.Ile82Met) variant DOID:0110564 autosomal dominant nonsyndromic deafness 3A IAGP D RGD:8554872 20250723 ClinVar ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 3A PMID:12112666|PMID:15964725|PMID:16300957|PMID:16380907|PMID:20234132|PMID:22567152|PMID:25741868|PMID:28492532|PMID:30311386 10042943 CV186859 NM_004004.6(GJB2):c.246C>G (p.Ile82Met) variant DOID:0111339 Vohwinkel syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Keratoderma hereditarium mutilans PMID:12112666|PMID:15964725|PMID:16300957|PMID:16380907|PMID:20234132|PMID:22567152|PMID:25741868|PMID:28492532|PMID:30311386 10042943 CV186859 NM_004004.6(GJB2):c.246C>G (p.Ile82Met) variant DOID:0111505 palmoplantar keratoderma-deafness syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Palmoplantar keratoderma and sensorineural deafness PMID:12112666|PMID:15964725|PMID:16300957|PMID:16380907|PMID:20234132|PMID:22567152|PMID:25741868|PMID:28492532|PMID:30311386 10042943 CV186859 NM_004004.6(GJB2):c.246C>G (p.Ile82Met) variant DOID:9008762 HID Syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hystrix-like ichthyosis with deafness PMID:12112666|PMID:15964725|PMID:16300957|PMID:16380907|PMID:20234132|PMID:22567152|PMID:25741868|PMID:28492532|PMID:30311386 10042944 CV186858 NM_004004.6(GJB2):c.290dup (p.Tyr97Ter) variant DOID:0050658 Bart-Pumphrey syndrome IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Bart-Pumphrey syndrome PMID:11584050|PMID:12792423|PMID:15070423|PMID:19371219|PMID:20301449|PMID:22695344|PMID:24529908|PMID:25741868|PMID:28405014|PMID:28428247|PMID:28492532|PMID:31160754|PMID:34581455 10042944 CV186858 NM_004004.6(GJB2):c.290dup (p.Tyr97Ter) variant DOID:0060871 autosomal dominant keratitis-ichthyosis-deafness syndrome IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: KID syndrome, autosomal dominant PMID:11584050|PMID:12792423|PMID:15070423|PMID:19371219|PMID:20301449|PMID:22695344|PMID:24529908|PMID:25741868|PMID:28405014|PMID:28428247|PMID:28492532|PMID:31160754|PMID:34581455 10042944 CV186858 NM_004004.6(GJB2):c.290dup (p.Tyr97Ter) variant DOID:0110475 autosomal recessive nonsyndromic deafness 1A IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1A PMID:11584050|PMID:12792423|PMID:15070423|PMID:19371219|PMID:20301449|PMID:22695344|PMID:24529908|PMID:25741868|PMID:28405014|PMID:28428247|PMID:28492532|PMID:31160754|PMID:34581455 10042944 CV186858 NM_004004.6(GJB2):c.290dup (p.Tyr97Ter) variant DOID:0110564 autosomal dominant nonsyndromic deafness 3A IAGP D RGD:8554872 20250723 ClinVar ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 3A PMID:11584050|PMID:12792423|PMID:15070423|PMID:19371219|PMID:20301449|PMID:22695344|PMID:24529908|PMID:25741868|PMID:28405014|PMID:28428247|PMID:28492532|PMID:31160754|PMID:34581455 10042944 CV186858 NM_004004.6(GJB2):c.290dup (p.Tyr97Ter) variant DOID:0111339 Vohwinkel syndrome IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Keratoderma hereditarium mutilans PMID:11584050|PMID:12792423|PMID:15070423|PMID:19371219|PMID:20301449|PMID:22695344|PMID:24529908|PMID:25741868|PMID:28405014|PMID:28428247|PMID:28492532|PMID:31160754|PMID:34581455 10042944 CV186858 NM_004004.6(GJB2):c.290dup (p.Tyr97Ter) variant DOID:0111505 palmoplantar keratoderma-deafness syndrome IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Palmoplantar keratoderma and sensorineural deafness PMID:11584050|PMID:12792423|PMID:15070423|PMID:19371219|PMID:20301449|PMID:22695344|PMID:24529908|PMID:25741868|PMID:28405014|PMID:28428247|PMID:28492532|PMID:31160754|PMID:34581455 10042944 CV186858 NM_004004.6(GJB2):c.290dup (p.Tyr97Ter) variant DOID:630 genetic disease IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11584050|PMID:12792423|PMID:15070423|PMID:19371219|PMID:20301449|PMID:22695344|PMID:24529908|PMID:25741868|PMID:28405014|PMID:28428247|PMID:28492532|PMID:31160754|PMID:34581455 10042944 CV186858 NM_004004.6(GJB2):c.290dup (p.Tyr97Ter) variant DOID:9008762 HID Syndrome IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Hystrix-like ichthyosis with deafness PMID:11584050|PMID:12792423|PMID:15070423|PMID:19371219|PMID:20301449|PMID:22695344|PMID:24529908|PMID:25741868|PMID:28405014|PMID:28428247|PMID:28492532|PMID:31160754|PMID:34581455 10042945 CV186861 NM_004004.6(GJB2):c.131G>A (p.Trp44Ter) variant DOID:0050658 Bart-Pumphrey syndrome IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Bart-Pumphrey syndrome PMID:10376574|PMID:11102979|PMID:15070423|PMID:16380907|PMID:17041943|PMID:17666888|PMID:21131880|PMID:21287563|PMID:23668481|PMID:25741868|PMID:26346709|PMID:26399936|PMID:26467025|PMID:28492532|PMID:29773520|PMID:31620164 10042945 CV186861 NM_004004.6(GJB2):c.131G>A (p.Trp44Ter) variant DOID:0060871 autosomal dominant keratitis-ichthyosis-deafness syndrome IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: KID syndrome, autosomal dominant PMID:10376574|PMID:11102979|PMID:15070423|PMID:16380907|PMID:17041943|PMID:17666888|PMID:21131880|PMID:21287563|PMID:23668481|PMID:25741868|PMID:26346709|PMID:26399936|PMID:26467025|PMID:28492532|PMID:29773520|PMID:31620164 10042945 CV186861 NM_004004.6(GJB2):c.131G>A (p.Trp44Ter) variant DOID:0110475 autosomal recessive nonsyndromic deafness 1A IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1A PMID:10376574|PMID:11102979|PMID:15070423|PMID:16380907|PMID:17041943|PMID:17666888|PMID:21131880|PMID:21287563|PMID:23668481|PMID:25741868|PMID:26346709|PMID:26399936|PMID:26467025|PMID:28492532|PMID:29773520|PMID:31620164 10042945 CV186861 NM_004004.6(GJB2):c.131G>A (p.Trp44Ter) variant DOID:0110564 autosomal dominant nonsyndromic deafness 3A IAGP D RGD:8554872 20250723 ClinVar ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 3A PMID:10376574|PMID:11102979|PMID:15070423|PMID:16380907|PMID:17041943|PMID:17666888|PMID:21131880|PMID:21287563|PMID:23668481|PMID:25741868|PMID:26346709|PMID:26399936|PMID:26467025|PMID:28492532|PMID:29773520|PMID:31620164 10042945 CV186861 NM_004004.6(GJB2):c.131G>A (p.Trp44Ter) variant DOID:0111339 Vohwinkel syndrome IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Keratoderma hereditarium mutilans PMID:10376574|PMID:11102979|PMID:15070423|PMID:16380907|PMID:17041943|PMID:17666888|PMID:21131880|PMID:21287563|PMID:23668481|PMID:25741868|PMID:26346709|PMID:26399936|PMID:26467025|PMID:28492532|PMID:29773520|PMID:31620164 10042945 CV186861 NM_004004.6(GJB2):c.131G>A (p.Trp44Ter) variant DOID:0111505 palmoplantar keratoderma-deafness syndrome IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Palmoplantar keratoderma and sensorineural deafness PMID:10376574|PMID:11102979|PMID:15070423|PMID:16380907|PMID:17041943|PMID:17666888|PMID:21131880|PMID:21287563|PMID:23668481|PMID:25741868|PMID:26346709|PMID:26399936|PMID:26467025|PMID:28492532|PMID:29773520|PMID:31620164 10042945 CV186861 NM_004004.6(GJB2):c.131G>A (p.Trp44Ter) variant DOID:0111737 X-linked deafness 2 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear PMID:10376574|PMID:11102979|PMID:15070423|PMID:16380907|PMID:17041943|PMID:17666888|PMID:21131880|PMID:21287563|PMID:23668481|PMID:25741868|PMID:26346709|PMID:26399936|PMID:26467025|PMID:28492532|PMID:29773520|PMID:31620164 10042945 CV186861 NM_004004.6(GJB2):c.131G>A (p.Trp44Ter) variant DOID:630 genetic disease IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10376574|PMID:11102979|PMID:15070423|PMID:16380907|PMID:17041943|PMID:17666888|PMID:21131880|PMID:21287563|PMID:23668481|PMID:25741868|PMID:26346709|PMID:26399936|PMID:26467025|PMID:28492532|PMID:29773520|PMID:31620164 10042945 CV186861 NM_004004.6(GJB2):c.131G>A (p.Trp44Ter) variant DOID:9008762 HID Syndrome IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: HID SYNDROME PMID:10376574|PMID:11102979|PMID:15070423|PMID:16380907|PMID:17041943|PMID:17666888|PMID:21131880|PMID:21287563|PMID:23668481|PMID:25741868|PMID:26346709|PMID:26399936|PMID:26467025|PMID:28492532|PMID:29773520|PMID:31620164 10042946 CV186862 NM_004004.6(GJB2):c.119C>G (p.Ala40Gly) variant DOID:0110475 autosomal recessive nonsyndromic deafness 1A IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1A PMID:16217030|PMID:16950989|PMID:17146396|PMID:18368581|PMID:18837651|PMID:19371219|PMID:20668687|PMID:20708129|PMID:21622233|PMID:22787277|PMID:25388846|PMID:25447126|PMID:25625422|PMID:26283912|PMID:27228968|PMID:27466889|PMID:28532469|PMID:28651654|PMID:36048236|PMID:36472766|PMID:36672810|PMID:37106706|PMID:37373495|PMID:37892203|PMID:38029595|PMID:38533727 10042947 CV186853 NM_004004.6(GJB2):c.598G>T (p.Gly200Ter) variant DOID:0050563 nonsyndromic deafness IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Non-syndromic genetic deafness PMID:12792423|PMID:15150777|PMID:15365987|PMID:23141775|PMID:25012701|PMID:25741868|PMID:28428247|PMID:31160754 10042947 CV186853 NM_004004.6(GJB2):c.598G>T (p.Gly200Ter) variant DOID:0110475 autosomal recessive nonsyndromic deafness 1A IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1A PMID:12792423|PMID:15150777|PMID:15365987|PMID:23141775|PMID:25012701|PMID:25741868|PMID:28428247|PMID:31160754 10042948 CV186857 NM_004004.6(GJB2):c.334_335del (p.Lys112fs) variant DOID:0050563 nonsyndromic deafness IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:12172394|PMID:15954104|PMID:16575343|PMID:17666888|PMID:21465647|PMID:22695344|PMID:23141775|PMID:24158611|PMID:25587757|PMID:25741868|PMID:26467025|PMID:26561413|PMID:26990548|PMID:27177978|PMID:28492532|PMID:30311386|PMID:9529365|PMID:9600457 10042948 CV186857 NM_004004.6(GJB2):c.334_335del (p.Lys112fs) variant DOID:0050658 Bart-Pumphrey syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Bart-Pumphrey syndrome PMID:12172394|PMID:15954104|PMID:16575343|PMID:17666888|PMID:21465647|PMID:22695344|PMID:23141775|PMID:24158611|PMID:25587757|PMID:25741868|PMID:26467025|PMID:26561413|PMID:26990548|PMID:27177978|PMID:28492532|PMID:30311386|PMID:9529365|PMID:9600457 10042948 CV186857 NM_004004.6(GJB2):c.334_335del (p.Lys112fs) variant DOID:0060871 autosomal dominant keratitis-ichthyosis-deafness syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: KID syndrome, autosomal dominant PMID:12172394|PMID:15954104|PMID:16575343|PMID:17666888|PMID:21465647|PMID:22695344|PMID:23141775|PMID:24158611|PMID:25587757|PMID:25741868|PMID:26467025|PMID:26561413|PMID:26990548|PMID:27177978|PMID:28492532|PMID:30311386|PMID:9529365|PMID:9600457 10042948 CV186857 NM_004004.6(GJB2):c.334_335del (p.Lys112fs) variant DOID:0110475 autosomal recessive nonsyndromic deafness 1A IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1A PMID:12172394|PMID:15954104|PMID:16575343|PMID:17666888|PMID:21465647|PMID:22695344|PMID:23141775|PMID:24158611|PMID:25587757|PMID:25741868|PMID:26467025|PMID:26561413|PMID:26990548|PMID:27177978|PMID:28492532|PMID:30311386|PMID:9529365|PMID:9600457 10042948 CV186857 NM_004004.6(GJB2):c.334_335del (p.Lys112fs) variant DOID:0110564 autosomal dominant nonsyndromic deafness 3A IAGP D RGD:8554872 20250723 ClinVar ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 3A PMID:12172394|PMID:15954104|PMID:16575343|PMID:17666888|PMID:21465647|PMID:22695344|PMID:23141775|PMID:24158611|PMID:25587757|PMID:25741868|PMID:26467025|PMID:26561413|PMID:26990548|PMID:27177978|PMID:28492532|PMID:30311386|PMID:9529365|PMID:9600457 10042948 CV186857 NM_004004.6(GJB2):c.334_335del (p.Lys112fs) variant DOID:0111339 Vohwinkel syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Keratoderma hereditarium mutilans PMID:12172394|PMID:15954104|PMID:16575343|PMID:17666888|PMID:21465647|PMID:22695344|PMID:23141775|PMID:24158611|PMID:25587757|PMID:25741868|PMID:26467025|PMID:26561413|PMID:26990548|PMID:27177978|PMID:28492532|PMID:30311386|PMID:9529365|PMID:9600457 10042948 CV186857 NM_004004.6(GJB2):c.334_335del (p.Lys112fs) variant DOID:0111505 palmoplantar keratoderma-deafness syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Palmoplantar keratoderma and sensorineural deafness PMID:12172394|PMID:15954104|PMID:16575343|PMID:17666888|PMID:21465647|PMID:22695344|PMID:23141775|PMID:24158611|PMID:25587757|PMID:25741868|PMID:26467025|PMID:26561413|PMID:26990548|PMID:27177978|PMID:28492532|PMID:30311386|PMID:9529365|PMID:9600457 10042948 CV186857 NM_004004.6(GJB2):c.334_335del (p.Lys112fs) variant DOID:0111737 X-linked deafness 2 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear PMID:12172394|PMID:15954104|PMID:16575343|PMID:17666888|PMID:21465647|PMID:22695344|PMID:23141775|PMID:24158611|PMID:25587757|PMID:25741868|PMID:26467025|PMID:26561413|PMID:26990548|PMID:27177978|PMID:28492532|PMID:30311386|PMID:9529365|PMID:9600457 10042948 CV186857 NM_004004.6(GJB2):c.334_335del (p.Lys112fs) variant DOID:9004538 Hearing Loss IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hearing loss PMID:12172394|PMID:15954104|PMID:16575343|PMID:17666888|PMID:21465647|PMID:22695344|PMID:23141775|PMID:24158611|PMID:25587757|PMID:25741868|PMID:26467025|PMID:26561413|PMID:26990548|PMID:27177978|PMID:28492532|PMID:30311386|PMID:9529365|PMID:9600457 10042948 CV186857 NM_004004.6(GJB2):c.334_335del (p.Lys112fs) variant DOID:9008762 HID Syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hystrix-like ichthyosis with deafness PMID:12172394|PMID:15954104|PMID:16575343|PMID:17666888|PMID:21465647|PMID:22695344|PMID:23141775|PMID:24158611|PMID:25587757|PMID:25741868|PMID:26467025|PMID:26561413|PMID:26990548|PMID:27177978|PMID:28492532|PMID:30311386|PMID:9529365|PMID:9600457 10042949 CV186855 NM_004004.6(GJB2):c.508_511dup (p.Ala171fs) variant DOID:0050658 Bart-Pumphrey syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bart-Pumphrey syndrome PMID:12172394|PMID:12910486|PMID:18414213|PMID:20863150|PMID:23638949|PMID:24256046|PMID:24737404|PMID:25741868|PMID:25891447|PMID:26061264|PMID:28492532|PMID:9529365 10042949 CV186855 NM_004004.6(GJB2):c.508_511dup (p.Ala171fs) variant DOID:0060871 autosomal dominant keratitis-ichthyosis-deafness syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: KID syndrome, autosomal dominant PMID:12172394|PMID:12910486|PMID:18414213|PMID:20863150|PMID:23638949|PMID:24256046|PMID:24737404|PMID:25741868|PMID:25891447|PMID:26061264|PMID:28492532|PMID:9529365 10042949 CV186855 NM_004004.6(GJB2):c.508_511dup (p.Ala171fs) variant DOID:0110475 autosomal recessive nonsyndromic deafness 1A IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1A PMID:12172394|PMID:12910486|PMID:18414213|PMID:20863150|PMID:23638949|PMID:24256046|PMID:24737404|PMID:25741868|PMID:25891447|PMID:26061264|PMID:28492532|PMID:9529365 10042949 CV186855 NM_004004.6(GJB2):c.508_511dup (p.Ala171fs) variant DOID:0110564 autosomal dominant nonsyndromic deafness 3A IAGP D RGD:8554872 20250723 ClinVar ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 3A PMID:12172394|PMID:12910486|PMID:18414213|PMID:20863150|PMID:23638949|PMID:24256046|PMID:24737404|PMID:25741868|PMID:25891447|PMID:26061264|PMID:28492532|PMID:9529365 10042949 CV186855 NM_004004.6(GJB2):c.508_511dup (p.Ala171fs) variant DOID:0111339 Vohwinkel syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Keratoderma hereditarium mutilans PMID:12172394|PMID:12910486|PMID:18414213|PMID:20863150|PMID:23638949|PMID:24256046|PMID:24737404|PMID:25741868|PMID:25891447|PMID:26061264|PMID:28492532|PMID:9529365 10042949 CV186855 NM_004004.6(GJB2):c.508_511dup (p.Ala171fs) variant DOID:0111505 palmoplantar keratoderma-deafness syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Palmoplantar keratoderma and sensorineural deafness PMID:12172394|PMID:12910486|PMID:18414213|PMID:20863150|PMID:23638949|PMID:24256046|PMID:24737404|PMID:25741868|PMID:25891447|PMID:26061264|PMID:28492532|PMID:9529365 10042949 CV186855 NM_004004.6(GJB2):c.508_511dup (p.Ala171fs) variant DOID:0111737 X-linked deafness 2 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear PMID:12172394|PMID:12910486|PMID:18414213|PMID:20863150|PMID:23638949|PMID:24256046|PMID:24737404|PMID:25741868|PMID:25891447|PMID:26061264|PMID:28492532|PMID:9529365 10042949 CV186855 NM_004004.6(GJB2):c.508_511dup (p.Ala171fs) variant DOID:9008762 HID Syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hystrix-like ichthyosis with deafness PMID:12172394|PMID:12910486|PMID:18414213|PMID:20863150|PMID:23638949|PMID:24256046|PMID:24737404|PMID:25741868|PMID:25891447|PMID:26061264|PMID:28492532|PMID:9529365 10042950 CV186856 NM_004004.6(GJB2):c.408C>A (p.Tyr136Ter) variant DOID:0110475 autosomal recessive nonsyndromic deafness 1A IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1A PMID:10501520|PMID:10607953|PMID:10633133|PMID:12560944|PMID:17666888|PMID:18941476|PMID:20497192|PMID:21112098|PMID:23141775|PMID:28492532 10042951 CV186864 NM_004004.6(GJB2):c.-23G>T variant DOID:0050563 nonsyndromic deafness IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:12792423|PMID:18941476|PMID:22567369|PMID:25741868|PMID:27057829|PMID:28428247|PMID:29311818|PMID:30733538|PMID:31160754 10042951 CV186864 NM_004004.6(GJB2):c.-23G>T variant DOID:0050658 Bart-Pumphrey syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Bart-Pumphrey syndrome PMID:12792423|PMID:18941476|PMID:22567369|PMID:25741868|PMID:27057829|PMID:28428247|PMID:29311818|PMID:30733538|PMID:31160754 10042951 CV186864 NM_004004.6(GJB2):c.-23G>T variant DOID:0060871 autosomal dominant keratitis-ichthyosis-deafness syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Keratitis-ichthyosis-deafness syndrome, autosomal dominant PMID:12792423|PMID:18941476|PMID:22567369|PMID:25741868|PMID:27057829|PMID:28428247|PMID:29311818|PMID:30733538|PMID:31160754 10042951 CV186864 NM_004004.6(GJB2):c.-23G>T variant DOID:0110475 autosomal recessive nonsyndromic deafness 1A IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1A PMID:12792423|PMID:18941476|PMID:22567369|PMID:25741868|PMID:27057829|PMID:28428247|PMID:29311818|PMID:30733538|PMID:31160754 10042951 CV186864 NM_004004.6(GJB2):c.-23G>T variant DOID:0110564 autosomal dominant nonsyndromic deafness 3A IAGP D RGD:8554872 20250723 ClinVar ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 3A PMID:12792423|PMID:18941476|PMID:22567369|PMID:25741868|PMID:27057829|PMID:28428247|PMID:29311818|PMID:30733538|PMID:31160754 10042951 CV186864 NM_004004.6(GJB2):c.-23G>T variant DOID:0111339 Vohwinkel syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Keratoderma hereditarium mutilans PMID:12792423|PMID:18941476|PMID:22567369|PMID:25741868|PMID:27057829|PMID:28428247|PMID:29311818|PMID:30733538|PMID:31160754 10042951 CV186864 NM_004004.6(GJB2):c.-23G>T variant DOID:0111505 palmoplantar keratoderma-deafness syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Palmoplantar keratoderma and sensorineural deafness PMID:12792423|PMID:18941476|PMID:22567369|PMID:25741868|PMID:27057829|PMID:28428247|PMID:29311818|PMID:30733538|PMID:31160754 10042951 CV186864 NM_004004.6(GJB2):c.-23G>T variant DOID:9004538 Hearing Loss IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Hearing loss PMID:12792423|PMID:18941476|PMID:22567369|PMID:25741868|PMID:27057829|PMID:28428247|PMID:29311818|PMID:30733538|PMID:31160754 10042951 CV186864 NM_004004.6(GJB2):c.-23G>T variant DOID:9008762 HID Syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hystrix-like ichthyosis with deafness PMID:12792423|PMID:18941476|PMID:22567369|PMID:25741868|PMID:27057829|PMID:28428247|PMID:29311818|PMID:30733538|PMID:31160754 10042952 CV186860 NM_004004.6(GJB2):c.230G>A (p.Trp77Ter) variant DOID:0050658 Bart-Pumphrey syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Bart-Pumphrey syndrome PMID:11494963|PMID:12792423|PMID:15656949|PMID:16222667|PMID:18941476|PMID:18983339|PMID:19465004|PMID:19707039|PMID:20086291|PMID:22695344|PMID:23141775|PMID:24033266|PMID:24949729|PMID:25741868|PMID:26061099|PMID:28492532|PMID:30146550|PMID:9139825|PMID:9529365|PMID:9600457 10042952 CV186860 NM_004004.6(GJB2):c.230G>A (p.Trp77Ter) variant DOID:0060871 autosomal dominant keratitis-ichthyosis-deafness syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Keratitis-ichthyosis-deafness syndrome, autosomal dominant PMID:11494963|PMID:12792423|PMID:15656949|PMID:16222667|PMID:18941476|PMID:18983339|PMID:19465004|PMID:19707039|PMID:20086291|PMID:22695344|PMID:23141775|PMID:24033266|PMID:24949729|PMID:25741868|PMID:26061099|PMID:28492532|PMID:30146550|PMID:9139825|PMID:9529365|PMID:9600457 10042952 CV186860 NM_004004.6(GJB2):c.230G>A (p.Trp77Ter) variant DOID:0110475 autosomal recessive nonsyndromic deafness 1A IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1A PMID:11494963|PMID:12792423|PMID:15656949|PMID:16222667|PMID:18941476|PMID:18983339|PMID:19465004|PMID:19707039|PMID:20086291|PMID:22695344|PMID:23141775|PMID:24033266|PMID:24949729|PMID:25741868|PMID:26061099|PMID:28492532|PMID:30146550|PMID:9139825|PMID:9529365|PMID:9600457 10042952 CV186860 NM_004004.6(GJB2):c.230G>A (p.Trp77Ter) variant DOID:0110564 autosomal dominant nonsyndromic deafness 3A IAGP D RGD:8554872 20250723 ClinVar ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 3A PMID:11494963|PMID:12792423|PMID:15656949|PMID:16222667|PMID:18941476|PMID:18983339|PMID:19465004|PMID:19707039|PMID:20086291|PMID:22695344|PMID:23141775|PMID:24033266|PMID:24949729|PMID:25741868|PMID:26061099|PMID:28492532|PMID:30146550|PMID:9139825|PMID:9529365|PMID:9600457 10042952 CV186860 NM_004004.6(GJB2):c.230G>A (p.Trp77Ter) variant DOID:0111339 Vohwinkel syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Keratoderma hereditarium mutilans PMID:11494963|PMID:12792423|PMID:15656949|PMID:16222667|PMID:18941476|PMID:18983339|PMID:19465004|PMID:19707039|PMID:20086291|PMID:22695344|PMID:23141775|PMID:24033266|PMID:24949729|PMID:25741868|PMID:26061099|PMID:28492532|PMID:30146550|PMID:9139825|PMID:9529365|PMID:9600457 10042952 CV186860 NM_004004.6(GJB2):c.230G>A (p.Trp77Ter) variant DOID:0111505 palmoplantar keratoderma-deafness syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Palmoplantar keratoderma and sensorineural deafness PMID:11494963|PMID:12792423|PMID:15656949|PMID:16222667|PMID:18941476|PMID:18983339|PMID:19465004|PMID:19707039|PMID:20086291|PMID:22695344|PMID:23141775|PMID:24033266|PMID:24949729|PMID:25741868|PMID:26061099|PMID:28492532|PMID:30146550|PMID:9139825|PMID:9529365|PMID:9600457 10042952 CV186860 NM_004004.6(GJB2):c.230G>A (p.Trp77Ter) variant DOID:9008762 HID Syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hystrix-like ichthyosis with deafness PMID:11494963|PMID:12792423|PMID:15656949|PMID:16222667|PMID:18941476|PMID:18983339|PMID:19465004|PMID:19707039|PMID:20086291|PMID:22695344|PMID:23141775|PMID:24033266|PMID:24949729|PMID:25741868|PMID:26061099|PMID:28492532|PMID:30146550|PMID:9139825|PMID:9529365|PMID:9600457 10042953 CV186854 NM_004004.6(GJB2):c.596C>T (p.Ser199Phe) variant DOID:0050658 Bart-Pumphrey syndrome IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Bart-Pumphrey syndrome PMID:10376574|PMID:11102979|PMID:12408072|PMID:15365987|PMID:16380907|PMID:17666888|PMID:19027181|PMID:20863150|PMID:21738759|PMID:23967136|PMID:24033266|PMID:25085072|PMID:25262649|PMID:25365227|PMID:25388846|PMID:25447126|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29311818|PMID:29773520 10042953 CV186854 NM_004004.6(GJB2):c.596C>T (p.Ser199Phe) variant DOID:0060871 autosomal dominant keratitis-ichthyosis-deafness syndrome IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: KID syndrome, autosomal dominant PMID:10376574|PMID:11102979|PMID:12408072|PMID:15365987|PMID:16380907|PMID:17666888|PMID:19027181|PMID:20863150|PMID:21738759|PMID:23967136|PMID:24033266|PMID:25085072|PMID:25262649|PMID:25365227|PMID:25388846|PMID:25447126|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29311818|PMID:29773520 10042953 CV186854 NM_004004.6(GJB2):c.596C>T (p.Ser199Phe) variant DOID:0110475 autosomal recessive nonsyndromic deafness 1A IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1A PMID:10376574|PMID:11102979|PMID:12408072|PMID:15365987|PMID:16380907|PMID:17666888|PMID:19027181|PMID:20863150|PMID:21738759|PMID:23967136|PMID:24033266|PMID:25085072|PMID:25262649|PMID:25365227|PMID:25388846|PMID:25447126|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29311818|PMID:29773520 10042953 CV186854 NM_004004.6(GJB2):c.596C>T (p.Ser199Phe) variant DOID:0110564 autosomal dominant nonsyndromic deafness 3A IAGP D RGD:8554872 20250723 ClinVar ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 3A PMID:10376574|PMID:11102979|PMID:12408072|PMID:15365987|PMID:16380907|PMID:17666888|PMID:19027181|PMID:20863150|PMID:21738759|PMID:23967136|PMID:24033266|PMID:25085072|PMID:25262649|PMID:25365227|PMID:25388846|PMID:25447126|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29311818|PMID:29773520 10042953 CV186854 NM_004004.6(GJB2):c.596C>T (p.Ser199Phe) variant DOID:0111339 Vohwinkel syndrome IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Keratoderma hereditarium mutilans PMID:10376574|PMID:11102979|PMID:12408072|PMID:15365987|PMID:16380907|PMID:17666888|PMID:19027181|PMID:20863150|PMID:21738759|PMID:23967136|PMID:24033266|PMID:25085072|PMID:25262649|PMID:25365227|PMID:25388846|PMID:25447126|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29311818|PMID:29773520 10042953 CV186854 NM_004004.6(GJB2):c.596C>T (p.Ser199Phe) variant DOID:0111505 palmoplantar keratoderma-deafness syndrome IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Palmoplantar keratoderma and sensorineural deafness PMID:10376574|PMID:11102979|PMID:12408072|PMID:15365987|PMID:16380907|PMID:17666888|PMID:19027181|PMID:20863150|PMID:21738759|PMID:23967136|PMID:24033266|PMID:25085072|PMID:25262649|PMID:25365227|PMID:25388846|PMID:25447126|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29311818|PMID:29773520 10042953 CV186854 NM_004004.6(GJB2):c.596C>T (p.Ser199Phe) variant DOID:9008762 HID Syndrome IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hystrix-like ichthyosis with deafness PMID:10376574|PMID:11102979|PMID:12408072|PMID:15365987|PMID:16380907|PMID:17666888|PMID:19027181|PMID:20863150|PMID:21738759|PMID:23967136|PMID:24033266|PMID:25085072|PMID:25262649|PMID:25365227|PMID:25388846|PMID:25447126|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29311818|PMID:29773520 10042954 CV187259 NM_007374.3(SIX6):c.532_536del (p.Asn178fs) variant DOID:0080635 optic disc anomalies with retinal and/or macular dystrophy IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY PMID:23167593 10042955 CV187260 NM_007374.3(SIX6):c.110T>C (p.Leu37Pro) variant DOID:0080635 optic disc anomalies with retinal and/or macular dystrophy IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY PMID:24702266 10042956 CV187657 NM_003673.4(TCAP):c.410C>T (p.Thr137Ile) variant DOID:0110328 hypertrophic cardiomyopathy 25 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1N PMID:15582318 10042957 CV187659 NM_003673.4(TCAP):c.208C>T (p.Arg70Trp) variant DOID:0080326 familial hypertrophic cardiomyopathy IAGP D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy PMID:16352453|PMID:17097056|PMID:23861362|PMID:25741868|PMID:27055092|PMID:28492532|PMID:31114860|PMID:31980526|PMID:32880476|PMID:35026164 10042957 CV187659 NM_003673.4(TCAP):c.208C>T (p.Arg70Trp) variant DOID:0110281 autosomal recessive limb-girdle muscular dystrophy type 2G IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2G PMID:16352453|PMID:17097056|PMID:23861362|PMID:25741868|PMID:27055092|PMID:28492532|PMID:31114860|PMID:31980526|PMID:32880476|PMID:35026164 10042957 CV187659 NM_003673.4(TCAP):c.208C>T (p.Arg70Trp) variant DOID:0110307 hypertrophic cardiomyopathy 1 IAGP D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:16352453|PMID:17097056|PMID:23861362|PMID:25741868|PMID:27055092|PMID:28492532|PMID:31114860|PMID:31980526|PMID:32880476|PMID:35026164 10042957 CV187659 NM_003673.4(TCAP):c.208C>T (p.Arg70Trp) variant DOID:0110328 hypertrophic cardiomyopathy 25 IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:16352453|PMID:17097056|PMID:23861362|PMID:25741868|PMID:27055092|PMID:28492532|PMID:31114860|PMID:31980526|PMID:32880476|PMID:35026164 10042957 CV187659 NM_003673.4(TCAP):c.208C>T (p.Arg70Trp) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:16352453|PMID:17097056|PMID:23861362|PMID:25741868|PMID:27055092|PMID:28492532|PMID:31114860|PMID:31980526|PMID:32880476|PMID:35026164 10042958 CV187689 NM_002334.4(LRP4):c.3830G>A (p.Arg1277His) variant DOID:0090015 Cenani-Lenz syndactyly syndrome IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Cenani-Lenz syndactyly syndrome PMID:24234652|PMID:25741868|PMID:28492532 10042958 CV187689 NM_002334.4(LRP4):c.3830G>A (p.Arg1277His) variant DOID:0110674 congenital myasthenic syndrome 17 IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 17 PMID:24234652|PMID:25741868|PMID:28492532 10042959 CV187694 NM_145199.3(LIPT1):c.535A>G (p.Thr179Ala) variant DOID:9008121 Lipoyltransferase 1 Deficiency IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Lipoyltransferase 1 deficiency PMID:24341803 10042960 CV187695 NM_145199.3(LIPT1):c.212C>T (p.Ser71Phe) variant DOID:9008121 Lipoyltransferase 1 Deficiency IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Lipoyltransferase 1 deficiency PMID:24256811|PMID:25741868 10042961 CV166020 NM_016120.4(RLIM):c.1067A>G (p.Tyr356Cys) variant DOID:0050776 non-syndromic X-linked intellectual disability IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability PMID:25735484|PMID:25741868 10042961 CV166020 NM_016120.4(RLIM):c.1067A>G (p.Tyr356Cys) variant DOID:0112042 Tonne-Kalscheuer syndrome IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT HAND AND FOOT ANOMALIES, GENITAL ANOMALIES, OR CONGENITAL DIAPHRAGMATIC HERNIA PMID:25735484|PMID:25741868 10042961 CV166020 NM_016120.4(RLIM):c.1067A>G (p.Tyr356Cys) variant DOID:9008086 Developmental Disabilities IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25735484|PMID:25741868 10042962 CV186863 NM_004004.6(GJB2):c.94C>T (p.Arg32Cys) variant DOID:0050658 Bart-Pumphrey syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Bart-Pumphrey syndrome PMID:11102979|PMID:11493200|PMID:12172394|PMID:12865758|PMID:12885339|PMID:14985372|PMID:15146474|PMID:15365987|PMID:15967879|PMID:16380907|PMID:17666888|PMID:19157576|PMID:19235794|PMID:19366456|PMID:19371219|PMID:19390476|PMID:20083784|PMID:20154630|PMID:20381175|PMID:21465647|PMID:22695344|PMID:22925408|PMID:25087612|PMID:25270357|PMID:25388846|PMID:25741868|PMID:26346709|PMID:26467025|PMID:26540915|PMID:27045574|PMID:27067584|PMID:27153395|PMID:28492532|PMID:9285800 10042962 CV186863 NM_004004.6(GJB2):c.94C>T (p.Arg32Cys) variant DOID:0060871 autosomal dominant keratitis-ichthyosis-deafness syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Keratitis-ichthyosis-deafness syndrome, autosomal dominant PMID:11102979|PMID:11493200|PMID:12172394|PMID:12865758|PMID:12885339|PMID:14985372|PMID:15146474|PMID:15365987|PMID:15967879|PMID:16380907|PMID:17666888|PMID:19157576|PMID:19235794|PMID:19366456|PMID:19371219|PMID:19390476|PMID:20083784|PMID:20154630|PMID:20381175|PMID:21465647|PMID:22695344|PMID:22925408|PMID:25087612|PMID:25270357|PMID:25388846|PMID:25741868|PMID:26346709|PMID:26467025|PMID:26540915|PMID:27045574|PMID:27067584|PMID:27153395|PMID:28492532|PMID:9285800 10042962 CV186863 NM_004004.6(GJB2):c.94C>T (p.Arg32Cys) variant DOID:0110475 autosomal recessive nonsyndromic deafness 1A IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1A PMID:11102979|PMID:11493200|PMID:12172394|PMID:12865758|PMID:12885339|PMID:14985372|PMID:15146474|PMID:15365987|PMID:15967879|PMID:16380907|PMID:17666888|PMID:19157576|PMID:19235794|PMID:19366456|PMID:19371219|PMID:19390476|PMID:20083784|PMID:20154630|PMID:20381175|PMID:21465647|PMID:22695344|PMID:22925408|PMID:25087612|PMID:25270357|PMID:25388846|PMID:25741868|PMID:26346709|PMID:26467025|PMID:26540915|PMID:27045574|PMID:27067584|PMID:27153395|PMID:28492532|PMID:9285800 10042962 CV186863 NM_004004.6(GJB2):c.94C>T (p.Arg32Cys) variant DOID:0110564 autosomal dominant nonsyndromic deafness 3A IAGP D RGD:8554872 20250723 ClinVar ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 3A PMID:11102979|PMID:11493200|PMID:12172394|PMID:12865758|PMID:12885339|PMID:14985372|PMID:15146474|PMID:15365987|PMID:15967879|PMID:16380907|PMID:17666888|PMID:19157576|PMID:19235794|PMID:19366456|PMID:19371219|PMID:19390476|PMID:20083784|PMID:20154630|PMID:20381175|PMID:21465647|PMID:22695344|PMID:22925408|PMID:25087612|PMID:25270357|PMID:25388846|PMID:25741868|PMID:26346709|PMID:26467025|PMID:26540915|PMID:27045574|PMID:27067584|PMID:27153395|PMID:28492532|PMID:9285800 10042962 CV186863 NM_004004.6(GJB2):c.94C>T (p.Arg32Cys) variant DOID:0111339 Vohwinkel syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Keratoderma hereditarium mutilans PMID:11102979|PMID:11493200|PMID:12172394|PMID:12865758|PMID:12885339|PMID:14985372|PMID:15146474|PMID:15365987|PMID:15967879|PMID:16380907|PMID:17666888|PMID:19157576|PMID:19235794|PMID:19366456|PMID:19371219|PMID:19390476|PMID:20083784|PMID:20154630|PMID:20381175|PMID:21465647|PMID:22695344|PMID:22925408|PMID:25087612|PMID:25270357|PMID:25388846|PMID:25741868|PMID:26346709|PMID:26467025|PMID:26540915|PMID:27045574|PMID:27067584|PMID:27153395|PMID:28492532|PMID:9285800 10042962 CV186863 NM_004004.6(GJB2):c.94C>T (p.Arg32Cys) variant DOID:0111505 palmoplantar keratoderma-deafness syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Palmoplantar keratoderma and sensorineural deafness PMID:11102979|PMID:11493200|PMID:12172394|PMID:12865758|PMID:12885339|PMID:14985372|PMID:15146474|PMID:15365987|PMID:15967879|PMID:16380907|PMID:17666888|PMID:19157576|PMID:19235794|PMID:19366456|PMID:19371219|PMID:19390476|PMID:20083784|PMID:20154630|PMID:20381175|PMID:21465647|PMID:22695344|PMID:22925408|PMID:25087612|PMID:25270357|PMID:25388846|PMID:25741868|PMID:26346709|PMID:26467025|PMID:26540915|PMID:27045574|PMID:27067584|PMID:27153395|PMID:28492532|PMID:9285800 10042962 CV186863 NM_004004.6(GJB2):c.94C>T (p.Arg32Cys) variant DOID:9008762 HID Syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hystrix-like ichthyosis with deafness PMID:11102979|PMID:11493200|PMID:12172394|PMID:12865758|PMID:12885339|PMID:14985372|PMID:15146474|PMID:15365987|PMID:15967879|PMID:16380907|PMID:17666888|PMID:19157576|PMID:19235794|PMID:19366456|PMID:19371219|PMID:19390476|PMID:20083784|PMID:20154630|PMID:20381175|PMID:21465647|PMID:22695344|PMID:22925408|PMID:25087612|PMID:25270357|PMID:25388846|PMID:25741868|PMID:26346709|PMID:26467025|PMID:26540915|PMID:27045574|PMID:27067584|PMID:27153395|PMID:28492532|PMID:9285800 10042963 CV187696 NM_145199.3(LIPT1):c.292C>G (p.Arg98Gly) variant DOID:9008121 Lipoyltransferase 1 Deficiency IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Lipoyltransferase 1 deficiency PMID:17570395|PMID:24256811|PMID:25741868|PMID:28492532|PMID:34440436 10044267 CV188042 NM_000124.3(ERCC6):c.1684_1705del variant DOID:0080908 Cockayne syndrome B IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Cockayne syndrome B PMID:18414213 10044268 CV188009 NM_000124.4(ERCC6):c.1526+1G>T variant DOID:0080868 primary ovarian insufficiency 11 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 11 PMID:16199547|PMID:18414213|PMID:18628313|PMID:25741868|PMID:28492532|PMID:29572252|PMID:34052969 10044268 CV188009 NM_000124.4(ERCC6):c.1526+1G>T variant DOID:0080908 Cockayne syndrome B IAGP D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Cockayne syndrome B PMID:16199547|PMID:18414213|PMID:18628313|PMID:25741868|PMID:28492532|PMID:29572252|PMID:34052969 10044268 CV188009 NM_000124.4(ERCC6):c.1526+1G>T variant DOID:0080911 cerebrooculofacioskeletal syndrome 1 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 1 PMID:16199547|PMID:18414213|PMID:18628313|PMID:25741868|PMID:28492532|PMID:29572252|PMID:34052969 10044268 CV188009 NM_000124.4(ERCC6):c.1526+1G>T variant DOID:0110028 age related macular degeneration 5 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Age related macular degeneration 5 PMID:16199547|PMID:18414213|PMID:18628313|PMID:25741868|PMID:28492532|PMID:29572252|PMID:34052969 10044268 CV188009 NM_000124.4(ERCC6):c.1526+1G>T variant DOID:0112158 De Sanctis-Cacchione syndrome IAGP D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: DE SANCTIS-CACCHIONE SYNDROME PMID:16199547|PMID:18414213|PMID:18628313|PMID:25741868|PMID:28492532|PMID:29572252|PMID:34052969 10044268 CV188009 NM_000124.4(ERCC6):c.1526+1G>T variant DOID:1324 lung cancer IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Lung cancer, somatic PMID:16199547|PMID:18414213|PMID:18628313|PMID:25741868|PMID:28492532|PMID:29572252|PMID:34052969 10044268 CV188009 NM_000124.4(ERCC6):c.1526+1G>T variant DOID:2962 Cockayne syndrome IAGP D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Progeroid nanism PMID:16199547|PMID:18414213|PMID:18628313|PMID:25741868|PMID:28492532|PMID:29572252|PMID:34052969 10044268 CV188009 NM_000124.4(ERCC6):c.1526+1G>T variant DOID:9006274 UV-Sensitive Syndrome 1 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: UV-sensitive syndrome 1 PMID:16199547|PMID:18414213|PMID:18628313|PMID:25741868|PMID:28492532|PMID:29572252|PMID:34052969 10044269 CV188013 NM_000124.4(ERCC6):c.150G>A (p.Val50=) variant DOID:0080908 Cockayne syndrome B IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Cockayne syndrome B PMID:18414213|PMID:19894250|PMID:28492532 10044269 CV188013 NM_000124.4(ERCC6):c.150G>A (p.Val50=) variant DOID:0080911 cerebrooculofacioskeletal syndrome 1 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 1 PMID:18414213|PMID:19894250|PMID:28492532 10044269 CV188013 NM_000124.4(ERCC6):c.150G>A (p.Val50=) variant DOID:0110028 age related macular degeneration 5 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Age-related macular degeneration 5 PMID:18414213|PMID:19894250|PMID:28492532 10044270 CV188008 NM_000124.4(ERCC6):c.1659G>T (p.Lys553Asn) variant DOID:0080868 primary ovarian insufficiency 11 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 11 PMID:18414213|PMID:25741868|PMID:28492532 10044270 CV188008 NM_000124.4(ERCC6):c.1659G>T (p.Lys553Asn) variant DOID:0080908 Cockayne syndrome B IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cockayne Syndrome, Type II PMID:18414213|PMID:25741868|PMID:28492532 10044270 CV188008 NM_000124.4(ERCC6):c.1659G>T (p.Lys553Asn) variant DOID:0080911 cerebrooculofacioskeletal syndrome 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 1 PMID:18414213|PMID:25741868|PMID:28492532 10044270 CV188008 NM_000124.4(ERCC6):c.1659G>T (p.Lys553Asn) variant DOID:0110028 age related macular degeneration 5 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Age related macular degeneration 5 PMID:18414213|PMID:25741868|PMID:28492532 10044270 CV188008 NM_000124.4(ERCC6):c.1659G>T (p.Lys553Asn) variant DOID:0112158 De Sanctis-Cacchione syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: DE SANCTIS-CACCHIONE SYNDROME PMID:18414213|PMID:25741868|PMID:28492532 10044270 CV188008 NM_000124.4(ERCC6):c.1659G>T (p.Lys553Asn) variant DOID:1324 lung cancer IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lung cancer PMID:18414213|PMID:25741868|PMID:28492532 10044270 CV188008 NM_000124.4(ERCC6):c.1659G>T (p.Lys553Asn) variant DOID:9006274 UV-Sensitive Syndrome 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: UV-sensitive syndrome 1 PMID:18414213|PMID:25741868|PMID:28492532 10044271 CV188007 NM_000124.4(ERCC6):c.1821+7C>T variant DOID:0080908 Cockayne syndrome B IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Cockayne syndrome B PMID:18414213|PMID:25741868|PMID:28492532 10044271 CV188007 NM_000124.4(ERCC6):c.1821+7C>T variant DOID:0080910 cerebrooculofacioskeletal syndrome IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: COFS syndrome PMID:18414213|PMID:25741868|PMID:28492532 10044271 CV188007 NM_000124.4(ERCC6):c.1821+7C>T variant DOID:0080911 cerebrooculofacioskeletal syndrome 1 IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 1 PMID:18414213|PMID:25741868|PMID:28492532 10044271 CV188007 NM_000124.4(ERCC6):c.1821+7C>T variant DOID:0112158 De Sanctis-Cacchione syndrome IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: DE SANCTIS-CACCHIONE SYNDROME PMID:18414213|PMID:25741868|PMID:28492532 10044271 CV188007 NM_000124.4(ERCC6):c.1821+7C>T variant DOID:2962 Cockayne syndrome IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Cockayne syndrome PMID:18414213|PMID:25741868|PMID:28492532 10044271 CV188007 NM_000124.4(ERCC6):c.1821+7C>T variant DOID:4448 macular degeneration IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Macular degeneration PMID:18414213|PMID:25741868|PMID:28492532 10044271 CV188007 NM_000124.4(ERCC6):c.1821+7C>T variant DOID:9006274 UV-Sensitive Syndrome 1 IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: UV-sensitive syndrome 1 PMID:18414213|PMID:25741868|PMID:28492532 10044272 CV188006 NM_000124.4(ERCC6):c.1835G>A (p.Arg612Gln) variant DOID:0112158 De Sanctis-Cacchione syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: DE SANCTIS-CACCHIONE SYNDROME PMID:18414213|PMID:28492532 10044273 CV188003 NM_000124.4(ERCC6):c.1996C>T (p.Arg666Cys) variant DOID:0080910 cerebrooculofacioskeletal syndrome IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Cerebrooculofacioskeletal Syndrome PMID:18414213|PMID:25741868|PMID:28492532 10044273 CV188003 NM_000124.4(ERCC6):c.1996C>T (p.Arg666Cys) variant DOID:0112158 De Sanctis-Cacchione syndrome IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: DE SANCTIS-CACCHIONE SYNDROME PMID:18414213|PMID:25741868|PMID:28492532 10044273 CV188003 NM_000124.4(ERCC6):c.1996C>T (p.Arg666Cys) variant DOID:2962 Cockayne syndrome IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Cockayne syndrome PMID:18414213|PMID:25741868|PMID:28492532 10044273 CV188003 NM_000124.4(ERCC6):c.1996C>T (p.Arg666Cys) variant DOID:4448 macular degeneration IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Macular degeneration PMID:18414213|PMID:25741868|PMID:28492532 10044273 CV188003 NM_000124.4(ERCC6):c.1996C>T (p.Arg666Cys) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:25741868|PMID:28492532 10044274 CV188001 NM_000124.4(ERCC6):c.2008C>T (p.Arg670Trp) variant DOID:0080908 Cockayne syndrome B IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cockayne syndrome B PMID:18414213|PMID:19894250|PMID:25251875|PMID:28492532|PMID:9443879 10044274 CV188001 NM_000124.4(ERCC6):c.2008C>T (p.Arg670Trp) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:19894250|PMID:25251875|PMID:28492532|PMID:9443879 10044275 CV187999 NM_000124.4(ERCC6):c.2167C>T (p.Gln723Ter) variant DOID:0080868 primary ovarian insufficiency 11 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 11 PMID:18414213|PMID:18628313|PMID:19894250|PMID:21228398|PMID:25326635|PMID:25741868|PMID:27356891|PMID:28492532|PMID:29572252 10044275 CV187999 NM_000124.4(ERCC6):c.2167C>T (p.Gln723Ter) variant DOID:0080908 Cockayne syndrome B IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Cockayne syndrome B PMID:18414213|PMID:18628313|PMID:19894250|PMID:21228398|PMID:25326635|PMID:25741868|PMID:27356891|PMID:28492532|PMID:29572252 10044275 CV187999 NM_000124.4(ERCC6):c.2167C>T (p.Gln723Ter) variant DOID:0080911 cerebrooculofacioskeletal syndrome 1 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 1 PMID:18414213|PMID:18628313|PMID:19894250|PMID:21228398|PMID:25326635|PMID:25741868|PMID:27356891|PMID:28492532|PMID:29572252 10044275 CV187999 NM_000124.4(ERCC6):c.2167C>T (p.Gln723Ter) variant DOID:0110028 age related macular degeneration 5 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Age related macular degeneration 5 PMID:18414213|PMID:18628313|PMID:19894250|PMID:21228398|PMID:25326635|PMID:25741868|PMID:27356891|PMID:28492532|PMID:29572252 10044275 CV187999 NM_000124.4(ERCC6):c.2167C>T (p.Gln723Ter) variant DOID:0112158 De Sanctis-Cacchione syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: DE SANCTIS-CACCHIONE SYNDROME PMID:18414213|PMID:18628313|PMID:19894250|PMID:21228398|PMID:25326635|PMID:25741868|PMID:27356891|PMID:28492532|PMID:29572252 10044275 CV187999 NM_000124.4(ERCC6):c.2167C>T (p.Gln723Ter) variant DOID:1324 lung cancer IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Lung cancer, somatic PMID:18414213|PMID:18628313|PMID:19894250|PMID:21228398|PMID:25326635|PMID:25741868|PMID:27356891|PMID:28492532|PMID:29572252 10044275 CV187999 NM_000124.4(ERCC6):c.2167C>T (p.Gln723Ter) variant DOID:2962 Cockayne syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Progeroid nanism PMID:18414213|PMID:18628313|PMID:19894250|PMID:21228398|PMID:25326635|PMID:25741868|PMID:27356891|PMID:28492532|PMID:29572252 10044275 CV187999 NM_000124.4(ERCC6):c.2167C>T (p.Gln723Ter) variant DOID:630 genetic disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:18628313|PMID:19894250|PMID:21228398|PMID:25326635|PMID:25741868|PMID:27356891|PMID:28492532|PMID:29572252 10044275 CV187999 NM_000124.4(ERCC6):c.2167C>T (p.Gln723Ter) variant DOID:9006274 UV-Sensitive Syndrome 1 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: UV-sensitive syndrome 1 PMID:18414213|PMID:18628313|PMID:19894250|PMID:21228398|PMID:25326635|PMID:25741868|PMID:27356891|PMID:28492532|PMID:29572252 10044276 CV187997 NM_000124.4(ERCC6):c.2599-26A>G variant DOID:0080868 primary ovarian insufficiency 11 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 11 PMID:18414213|PMID:19894250|PMID:25326635|PMID:25741868|PMID:27004399|PMID:28492532|PMID:29572252|PMID:9443879 10044276 CV187997 NM_000124.4(ERCC6):c.2599-26A>G variant DOID:0080908 Cockayne syndrome B IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Cockayne syndrome B PMID:18414213|PMID:19894250|PMID:25326635|PMID:25741868|PMID:27004399|PMID:28492532|PMID:29572252|PMID:9443879 10044276 CV187997 NM_000124.4(ERCC6):c.2599-26A>G variant DOID:0080911 cerebrooculofacioskeletal syndrome 1 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: CEREBROOCULOFACIOSKELETAL SYNDROME 1 PMID:18414213|PMID:19894250|PMID:25326635|PMID:25741868|PMID:27004399|PMID:28492532|PMID:29572252|PMID:9443879 10044276 CV187997 NM_000124.4(ERCC6):c.2599-26A>G variant DOID:0110028 age related macular degeneration 5 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Age related macular degeneration 5 PMID:18414213|PMID:19894250|PMID:25326635|PMID:25741868|PMID:27004399|PMID:28492532|PMID:29572252|PMID:9443879 10044276 CV187997 NM_000124.4(ERCC6):c.2599-26A>G variant DOID:0112158 De Sanctis-Cacchione syndrome IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: DE SANCTIS-CACCHIONE SYNDROME PMID:18414213|PMID:19894250|PMID:25326635|PMID:25741868|PMID:27004399|PMID:28492532|PMID:29572252|PMID:9443879 10044276 CV187997 NM_000124.4(ERCC6):c.2599-26A>G variant DOID:1324 lung cancer IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Lung cancer, somatic PMID:18414213|PMID:19894250|PMID:25326635|PMID:25741868|PMID:27004399|PMID:28492532|PMID:29572252|PMID:9443879 10044276 CV187997 NM_000124.4(ERCC6):c.2599-26A>G variant DOID:2962 Cockayne syndrome IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Progeroid nanism PMID:18414213|PMID:19894250|PMID:25326635|PMID:25741868|PMID:27004399|PMID:28492532|PMID:29572252|PMID:9443879 10044276 CV187997 NM_000124.4(ERCC6):c.2599-26A>G variant DOID:9006274 UV-Sensitive Syndrome 1 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: UV-sensitive syndrome 1 PMID:18414213|PMID:19894250|PMID:25326635|PMID:25741868|PMID:27004399|PMID:28492532|PMID:29572252|PMID:9443879 10044277 CV187996 NM_000124.4(ERCC6):c.2830-2A>G variant DOID:0080868 primary ovarian insufficiency 11 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 11 PMID:18414213|PMID:19894250|PMID:23311583|PMID:24154677|PMID:25741868|PMID:28492532 10044277 CV187996 NM_000124.4(ERCC6):c.2830-2A>G variant DOID:0080908 Cockayne syndrome B IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cockayne syndrome B PMID:18414213|PMID:19894250|PMID:23311583|PMID:24154677|PMID:25741868|PMID:28492532 10044277 CV187996 NM_000124.4(ERCC6):c.2830-2A>G variant DOID:0080911 cerebrooculofacioskeletal syndrome 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 1 PMID:18414213|PMID:19894250|PMID:23311583|PMID:24154677|PMID:25741868|PMID:28492532 10044277 CV187996 NM_000124.4(ERCC6):c.2830-2A>G variant DOID:0110028 age related macular degeneration 5 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Age related macular degeneration 5 PMID:18414213|PMID:19894250|PMID:23311583|PMID:24154677|PMID:25741868|PMID:28492532 10044277 CV187996 NM_000124.4(ERCC6):c.2830-2A>G variant DOID:0112158 De Sanctis-Cacchione syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: DE SANCTIS-CACCHIONE SYNDROME PMID:18414213|PMID:19894250|PMID:23311583|PMID:24154677|PMID:25741868|PMID:28492532 10044277 CV187996 NM_000124.4(ERCC6):c.2830-2A>G variant DOID:3905 lung carcinoma IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lung carcinoma PMID:18414213|PMID:19894250|PMID:23311583|PMID:24154677|PMID:25741868|PMID:28492532 10044277 CV187996 NM_000124.4(ERCC6):c.2830-2A>G variant DOID:9006274 UV-Sensitive Syndrome 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: UV-SENSITIVE SYNDROME 1 PMID:18414213|PMID:19894250|PMID:23311583|PMID:24154677|PMID:25741868|PMID:28492532 10044278 CV187995 NM_000124.4(ERCC6):c.3122A>C (p.Gln1041Pro) variant DOID:0080910 cerebrooculofacioskeletal syndrome IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Cerebrooculofacioskeletal Syndrome PMID:18414213|PMID:25741868|PMID:28492532 10044278 CV187995 NM_000124.4(ERCC6):c.3122A>C (p.Gln1041Pro) variant DOID:0112158 De Sanctis-Cacchione syndrome IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: DE SANCTIS-CACCHIONE SYNDROME PMID:18414213|PMID:25741868|PMID:28492532 10044278 CV187995 NM_000124.4(ERCC6):c.3122A>C (p.Gln1041Pro) variant DOID:2962 Cockayne syndrome IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Cockayne syndrome PMID:18414213|PMID:25741868|PMID:28492532 10044278 CV187995 NM_000124.4(ERCC6):c.3122A>C (p.Gln1041Pro) variant DOID:4448 macular degeneration IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Macular degeneration PMID:18414213|PMID:25741868|PMID:28492532 10044278 CV187995 NM_000124.4(ERCC6):c.3122A>C (p.Gln1041Pro) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:25741868|PMID:28492532 10044279 CV187994 NM_000124.4(ERCC6):c.3177T>C (p.Ser1059=) variant DOID:0080908 Cockayne syndrome B IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Cockayne Syndrome, Type II PMID:18414213|PMID:25741868|PMID:28492532 10044279 CV187994 NM_000124.4(ERCC6):c.3177T>C (p.Ser1059=) variant DOID:0080911 cerebrooculofacioskeletal syndrome 1 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 1 PMID:18414213|PMID:25741868|PMID:28492532 10044279 CV187994 NM_000124.4(ERCC6):c.3177T>C (p.Ser1059=) variant DOID:0110028 age related macular degeneration 5 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Age related macular degeneration 5 PMID:18414213|PMID:25741868|PMID:28492532 10044280 CV187981 NM_000082.4(ERCC8):c.435T>C (p.Tyr145=) variant DOID:0080907 Cockayne syndrome A IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Cockayne syndrome type A PMID:18414213|PMID:25741868|PMID:28492532 10044280 CV187981 NM_000082.4(ERCC8):c.435T>C (p.Tyr145=) variant DOID:9000316 UV-Sensitive Syndrome 2 IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: UV-sensitive syndrome 2 PMID:18414213|PMID:25741868|PMID:28492532 10044281 CV187980 NM_004628.5(XPC):c.622-2A>C variant DOID:0050427 xeroderma pigmentosum IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum PMID:16081512|PMID:17079196|PMID:18414213|PMID:25741868|PMID:28492532 10044281 CV187980 NM_004628.5(XPC):c.622-2A>C variant DOID:0110844 xeroderma pigmentosum group C IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum, group C PMID:16081512|PMID:17079196|PMID:18414213|PMID:25741868|PMID:28492532 10044282 CV187976 NM_004628.5(XPC):c.2251-6A>C variant DOID:0110843 xeroderma pigmentosum group A IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum group A PMID:12177305|PMID:18414213|PMID:25741868|PMID:28492532 10044282 CV187976 NM_004628.5(XPC):c.2251-6A>C variant DOID:0110844 xeroderma pigmentosum group C IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum, group C PMID:12177305|PMID:18414213|PMID:25741868|PMID:28492532 10044283 CV187938 NM_001605.3(AARS1):c.2251A>G (p.Arg751Gly) variant DOID:0050539 Charcot-Marie-Tooth disease type 2 IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:21494555|PMID:25741868|PMID:25817015|PMID:28492532|PMID:29653220|PMID:33294374 10044283 CV187938 NM_001605.3(AARS1):c.2251A>G (p.Arg751Gly) variant DOID:0080451 developmental and epileptic encephalopathy 29 IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 29 PMID:21494555|PMID:25741868|PMID:25817015|PMID:28492532|PMID:29653220|PMID:33294374 10044283 CV187938 NM_001605.3(AARS1):c.2251A>G (p.Arg751Gly) variant DOID:0110177 Charcot-Marie-Tooth disease axonal type 2N IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2N PMID:21494555|PMID:25741868|PMID:25817015|PMID:28492532|PMID:29653220|PMID:33294374 10044283 CV187938 NM_001605.3(AARS1):c.2251A>G (p.Arg751Gly) variant DOID:10595 Charcot-Marie-Tooth disease IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:21494555|PMID:25741868|PMID:25817015|PMID:28492532|PMID:29653220|PMID:33294374 10044283 CV187938 NM_001605.3(AARS1):c.2251A>G (p.Arg751Gly) variant DOID:630 genetic disease IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21494555|PMID:25741868|PMID:25817015|PMID:28492532|PMID:29653220|PMID:33294374 10044285 CV187946 NM_144498.4(OSBPL2):c.141_142del (p.Arg50fs) variant DOID:0110588 autosomal dominant nonsyndromic deafness 67 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 67 PMID:25759012 10044286 CV187950 NM_002143.3(HPCA):c.225C>A (p.Asn75Lys) variant DOID:0090038 torsion dystonia 2 IAGP D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Torsion dystonia 2 PMID:14694054|PMID:25799108|PMID:6115727 10044287 CV187952 NM_002143.3(HPCA):c.568G>A (p.Ala190Thr) variant DOID:0090038 torsion dystonia 2 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Torsion dystonia 2 PMID:25799108|PMID:28492532 10044288 CV187954 NM_019066.5(MAGEL2):c.1996dup (p.Gln666fs) variant DOID:0111715 Schaaf-Yang syndrome IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Schaaf-Yang syndrome PMID:25473036|PMID:25741868|PMID:27195816|PMID:27632685|PMID:28492532|PMID:29599419|PMID:29660409|PMID:30302899|PMID:32021601|PMID:33371171 10044288 CV187954 NM_019066.5(MAGEL2):c.1996dup (p.Gln666fs) variant DOID:630 genetic disease IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25473036|PMID:25741868|PMID:27195816|PMID:27632685|PMID:28492532|PMID:29599419|PMID:29660409|PMID:30302899|PMID:32021601|PMID:33371171 10044288 CV187954 NM_019066.5(MAGEL2):c.1996dup (p.Gln666fs) variant DOID:9004429 Neurodevelopmental Disorders IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25473036|PMID:25741868|PMID:27195816|PMID:27632685|PMID:28492532|PMID:29599419|PMID:29660409|PMID:30302899|PMID:32021601|PMID:33371171 10044289 CV187955 NM_014444.5(TUBGCP4):c.1746G>T (p.Leu582=) variant DOID:0080107 microcephaly and chorioretinopathy 3 IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Microcephaly and chorioretinopathy, autosomal recessive, 3 PMID:24033266|PMID:25741868|PMID:25817018|PMID:28492532|PMID:35418825 10044290 CV187956 NM_014444.5(TUBGCP4):c.579dup (p.Gly194fs) variant DOID:0080107 microcephaly and chorioretinopathy 3 IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Microcephaly and chorioretinopathy, autosomal recessive, 3 PMID:25741868|PMID:25817018|PMID:28492532 10044291 CV187957 NG_042168.2:g.(35752_37583)_(39659_?)del variant DOID:0080107 microcephaly and chorioretinopathy 3 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly and chorioretinopathy 3 PMID:25817018 10044292 CV187958 NM_014444.5(TUBGCP4):c.298del (p.Tyr100fs) variant DOID:0080107 microcephaly and chorioretinopathy 3 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Microcephaly and chorioretinopathy, autosomal recessive, 3 PMID:25817018 10044293 CV187959 NM_001256007.3(PNPLA8):c.634_637del (p.Asn212fs) variant DOID:9002494 Mitochondrial Myopathy with Lactic Acidosis IAGP D RGD:8554872 20250729 ClinVar ClinVar Annotator: match by term: Mitochondrial myopathy-lactic acidosis-deafness syndrome PMID:19840936|PMID:25512002|PMID:28492532|PMID:29681094 10044295 CV188012 NM_000124.4(ERCC6):c.670C>T (p.Leu224Phe) variant DOID:0080908 Cockayne syndrome B IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Cockayne syndrome B PMID:18414213|PMID:28492532 10044295 CV188012 NM_000124.4(ERCC6):c.670C>T (p.Leu224Phe) variant DOID:0080911 cerebrooculofacioskeletal syndrome 1 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 1 PMID:18414213|PMID:28492532 10044295 CV188012 NM_000124.4(ERCC6):c.670C>T (p.Leu224Phe) variant DOID:0110028 age related macular degeneration 5 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Age-related macular degeneration 5 PMID:18414213|PMID:28492532 10044295 CV188012 NM_000124.4(ERCC6):c.670C>T (p.Leu224Phe) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:28492532 10044296 CV187982 NM_000082.4(ERCC8):c.363T>C (p.Asp121=) variant DOID:0080907 Cockayne syndrome A IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Cockayne syndrome type A PMID:18414213|PMID:25741868|PMID:28492532 10044297 CV187985 NM_000380.4(XPA):c.-4A>G variant DOID:0110843 xeroderma pigmentosum group A IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum group A PMID:18414213|PMID:25741868|PMID:28492532 10044298 CV187977 NM_004628.5(XPC):c.1881T>A (p.Ala627=) variant DOID:0110844 xeroderma pigmentosum group C IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum, group C PMID:18414213|PMID:25741868|PMID:28492532 10044299 CV187973 NM_004628.5(XPC):c.2815C>A (p.Gln939Lys) variant DOID:0050427 xeroderma pigmentosum IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum PMID:18414213|PMID:23400628|PMID:25741868|PMID:28492532 10044299 CV187973 NM_004628.5(XPC):c.2815C>A (p.Gln939Lys) variant DOID:0050431 arrhythmogenic right ventricular cardiomyopathy IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy PMID:18414213|PMID:23400628|PMID:25741868|PMID:28492532 10044299 CV187973 NM_004628.5(XPC):c.2815C>A (p.Gln939Lys) variant DOID:0110844 xeroderma pigmentosum group C IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum, group C PMID:18414213|PMID:23400628|PMID:25741868|PMID:28492532 10044300 CV188067 NM_001572.5(IRF7):c.1261C>T (p.Gln421Ter) variant DOID:0111969 immunodeficiency 39 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:25814066 10044301 CV188068 NM_182895.5(SCARF2):c.441_457del (p.Trp148fs) variant DOID:0111699 Van den Ende-Gupta syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Marden Walker like syndrome PMID:24478002 10044302 CV188071 NM_001291415.2(KDM6A):c.2671_2674del (p.Asn891fs) variant DOID:9007875 Kabuki Syndrome 2 IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 2 PMID:24664873|PMID:25741868 10044303 CV188072 NM_001291867.2(NHS):c.852+1del variant DOID:0060599 Nance-Horan syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Nance-Horan syndrome PMID:25266737 10044304 CV188074 NM_021728.4(OTX2):c.289C>T (p.Arg97Ter) variant DOID:0111806 syndromic microphthalmia 5 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Microphthalmia syndromic 5 PMID:24167467 10044306 CV188077 NM_198994.3(TGM6):c.331C>T (p.Arg111Cys) variant DOID:0050982 spinocerebellar ataxia 35 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia 35 PMID:25253745 10044310 CV188112 NM_001282531.3(ADNP):c.2156dup (p.Tyr719Ter) variant DOID:0070058 Helsmoortel-Van Der Aa syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Helsmoortel-Van der Aa Syndrome PMID:18414213|PMID:23160955|PMID:24531329|PMID:25057125|PMID:25533962|PMID:25741868|PMID:28221363|PMID:28492532|PMID:28579975|PMID:28708303|PMID:29724491|PMID:29911927 10044310 CV188112 NM_001282531.3(ADNP):c.2156dup (p.Tyr719Ter) variant DOID:1059 intellectual disability IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:18414213|PMID:23160955|PMID:24531329|PMID:25057125|PMID:25533962|PMID:25741868|PMID:28221363|PMID:28492532|PMID:28579975|PMID:28708303|PMID:29724491|PMID:29911927 10044310 CV188112 NM_001282531.3(ADNP):c.2156dup (p.Tyr719Ter) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:23160955|PMID:24531329|PMID:25057125|PMID:25533962|PMID:25741868|PMID:28221363|PMID:28492532|PMID:28579975|PMID:28708303|PMID:29724491|PMID:29911927 10044310 CV188112 NM_001282531.3(ADNP):c.2156dup (p.Tyr719Ter) variant DOID:9004429 Neurodevelopmental Disorders IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:18414213|PMID:23160955|PMID:24531329|PMID:25057125|PMID:25533962|PMID:25741868|PMID:28221363|PMID:28492532|PMID:28579975|PMID:28708303|PMID:29724491|PMID:29911927 10044311 CV188113 NM_001282531.3(ADNP):c.1222_1223del (p.Lys408fs) variant DOID:0070058 Helsmoortel-Van Der Aa syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Mental retardation, autosomal dominant 28 PMID:25533962 10044312 CV188114 NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys) variant DOID:0070065 autosomal dominant intellectual developmental disorder 35 IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome PMID:18414213|PMID:25434003|PMID:25533962|PMID:25741868|PMID:25741882|PMID:25972378|PMID:26168268|PMID:28191890|PMID:28492532|PMID:28554332|PMID:29296277|PMID:30615140|PMID:30676711|PMID:32074998 10044312 CV188114 NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys) variant DOID:0080695 Burn-McKeown syndrome IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Burn-McKeown syndrome PMID:18414213|PMID:25434003|PMID:25533962|PMID:25741868|PMID:25741882|PMID:25972378|PMID:26168268|PMID:28191890|PMID:28492532|PMID:28554332|PMID:29296277|PMID:30615140|PMID:30676711|PMID:32074998 10044312 CV188114 NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys) variant DOID:1059 intellectual disability IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder PMID:18414213|PMID:25434003|PMID:25533962|PMID:25741868|PMID:25741882|PMID:25972378|PMID:26168268|PMID:28191890|PMID:28492532|PMID:28554332|PMID:29296277|PMID:30615140|PMID:30676711|PMID:32074998 10044312 CV188114 NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys) variant DOID:630 genetic disease IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:25434003|PMID:25533962|PMID:25741868|PMID:25741882|PMID:25972378|PMID:26168268|PMID:28191890|PMID:28492532|PMID:28554332|PMID:29296277|PMID:30615140|PMID:30676711|PMID:32074998 10044312 CV188114 NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys) variant DOID:9001156 Oculootofacial Dysplasia IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA PMID:18414213|PMID:25434003|PMID:25533962|PMID:25741868|PMID:25741882|PMID:25972378|PMID:26168268|PMID:28191890|PMID:28492532|PMID:28554332|PMID:29296277|PMID:30615140|PMID:30676711|PMID:32074998 10044312 CV188114 NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys) variant DOID:9008086 Developmental Disabilities IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:18414213|PMID:25434003|PMID:25533962|PMID:25741868|PMID:25741882|PMID:25972378|PMID:26168268|PMID:28191890|PMID:28492532|PMID:28554332|PMID:29296277|PMID:30615140|PMID:30676711|PMID:32074998 10044313 CV188115 NM_006245.4(PPP2R5D):c.602C>G (p.Pro201Arg) variant DOID:0070065 autosomal dominant intellectual developmental disorder 35 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 35 PMID:25533962|PMID:26168268|PMID:28492532|PMID:30676711 10044315 CV188130 NC_000023.10:g.(20185970_20187287)_(20191368_20193188)del variant DOID:3783 Coffin-Lowry syndrome IAGP D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Coffin-Lowry syndrome PMID:25044551|PMID:5581017 10044316 CV188132 NM_001135998.3(NDUFB11):c.372del (p.Arg124fs) variant DOID:0111876 linear skin defects with multiple congenital anomalies 3 IAGP D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Linear skin defects with multiple congenital anomalies 3 PMID:25772934 10044318 CV188134 NM_006912.6(RIT1):c.270G>C (p.Met90Ile) variant DOID:0060586 Noonan syndrome 8 IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: RIT1-related condition PMID:23791108|PMID:24469055|PMID:24939608|PMID:25741868|PMID:25959749|PMID:26446362|PMID:26714497|PMID:27101134|PMID:27109146|PMID:28492532|PMID:30732632|PMID:30872527|PMID:33144663|PMID:34906519 10044318 CV188134 NM_006912.6(RIT1):c.270G>C (p.Met90Ile) variant DOID:0080690 RASopathy IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: rasopathies PMID:23791108|PMID:24469055|PMID:24939608|PMID:25741868|PMID:25959749|PMID:26446362|PMID:26714497|PMID:27101134|PMID:27109146|PMID:28492532|PMID:30732632|PMID:30872527|PMID:33144663|PMID:34906519 10044319 CV188136 NM_015100.4(POGZ):c.3354del (p.Leu1119fs) variant DOID:0070067 White-Sutton syndrome IAGP D RGD:8554872 20220628 ClinVar ClinVar Annotator: match by term: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome PMID:25533962|PMID:26739615 10044320 CV188137 NM_015100.4(POGZ):c.2711T>A (p.Leu904Ter) variant DOID:0070067 White-Sutton syndrome IAGP D RGD:8554872 20220628 ClinVar ClinVar Annotator: match by term: Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome PMID:25533962|PMID:26739615 10044322 CV188140 NM_004408.4(DNM1):c.865A>T (p.Ile289Phe) variant DOID:0080437 developmental and epileptic encephalopathy 31A IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31 PMID:25533962 10044323 CV188143 NM_153816.6(SNX14):c.2596C>T (p.Gln866Ter) variant DOID:0080066 autosomal recessive spinocerebellar ataxia 20 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 20 PMID:24501761|PMID:25439728 10044324 CV188144 NM_153816.2(SNX14):c.1108+1181_2108-2342del variant DOID:0080066 autosomal recessive spinocerebellar ataxia 20 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 20 PMID:25439728 10044325 CV188145 NM_153816.6(SNX14):c.645dup (p.Glu216fs) variant DOID:0080066 autosomal recessive spinocerebellar ataxia 20 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 20 PMID:25848753 10044326 CV188146 NM_153816.6(SNX14):c.1894+1G>T variant DOID:0080066 autosomal recessive spinocerebellar ataxia 20 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: SNX14-related condition PMID:25439728|PMID:39825153 10044327 CV188148 NM_153816.6(SNX14):c.428T>A (p.Leu143Ter) variant DOID:0080066 autosomal recessive spinocerebellar ataxia 20 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 20 PMID:25848753 10044328 CV188149 NM_153816.6(SNX14):c.2670del (p.Lys889_Cys890insTer) variant DOID:0080066 autosomal recessive spinocerebellar ataxia 20 IAGP D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 20 PMID:25741868|PMID:25848753 10044329 CV188151 NM_001957.4(EDNRA):c.907G>A (p.Glu303Lys) variant DOID:0060365 mandibulofacial dysostosis with alopecia IAGP D RGD:8554872 20180807 ClinVar ClinVar Annotator: match by term: Mandibulofacial dysostosis with alopecia PMID:16116593|PMID:25772936 10044330 CV188152 NM_004974.4(KCNA2):c.1214C>T (p.Pro405Leu) variant DOID:0080416 developmental and epileptic encephalopathy 32 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 32 PMID:25741868|PMID:25751627|PMID:28492532|PMID:28806589|PMID:29050392|PMID:30182498|PMID:33232902 10044330 CV188152 NM_004974.4(KCNA2):c.1214C>T (p.Pro405Leu) variant DOID:1826 epilepsy IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Seizure PMID:25741868|PMID:25751627|PMID:28492532|PMID:28806589|PMID:29050392|PMID:30182498|PMID:33232902 10044330 CV188152 NM_004974.4(KCNA2):c.1214C>T (p.Pro405Leu) variant DOID:630 genetic disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:25751627|PMID:28492532|PMID:28806589|PMID:29050392|PMID:30182498|PMID:33232902 10044331 CV188154 NM_004974.4(KCNA2):c.894G>T (p.Leu298Phe) variant DOID:0080416 developmental and epileptic encephalopathy 32 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 32 PMID:25751627 10044332 CV188157 NM_014423.4(AFF4):c.761C>G (p.Thr254Ser) variant DOID:9006799 CHOPS Syndrome IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome PMID:25730767|PMID:25741868|PMID:34782754 10044333 CV188158 NM_014423.4(AFF4):c.772C>T (p.Arg258Trp) variant DOID:9006799 CHOPS Syndrome IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome PMID:25730767|PMID:25741868|PMID:28492532 10044334 CV188222 NM_020458.4(TTC7A):c.2494G>A (p.Ala832Thr) variant DOID:14671 multiple intestinal atresia IAGP D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Multiple gastrointestinal atresias PMID:24417819 10044335 CV188238 NC_000018.9(TXNL4A):g.77748604_77748637del34 variant DOID:0080695 Burn-McKeown syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Burn-McKeown syndrome PMID:25434003|PMID:25741868 10044335 CV188238 NC_000018.9(TXNL4A):g.77748604_77748637del34 variant DOID:9001156 Oculootofacial Dysplasia IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA PMID:25434003|PMID:25741868 10044343 CV188264 NM_016218.6(POLK):c.*66T>C variant DOID:10283 prostate cancer IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Prostate cancer PMID:26046662 10044353 CV140341 NM_000719.7(CACNA1C):c.5445-586C>T variant DOID:0060173 Timothy syndrome IAGP D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Timothy syndrome PMID:23861362|PMID:25741868 10044354 CV140342 NM_000719.7(CACNA1C):c.5445-584A>G variant DOID:0060173 Timothy syndrome IAGP D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Timothy syndrome PMID:23861362|PMID:25741868 10044355 CV140343 NM_000719.7(CACNA1C):c.5445-511= variant DOID:0060173 Timothy syndrome IAGP D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Timothy syndrome PMID:23861362|PMID:25741868 10044356 CV188208 NM_021926.4(ALX4):c.503del (p.Pro168fs) variant DOID:0081046 frontonasal dysplasia 2 IAGP D RGD:8554872 20250729 ClinVar ClinVar Annotator: match by term: Frontonasal dysplasia with alopecia and genital anomaly PMID:24668755 10044357 CV188212 NM_016343.4(CENPF):c.1744G>T (p.Glu582Ter) variant DOID:0110595 Stromme syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Stromme syndrome PMID:25564561|PMID:25741868 10044358 CV188213 NM_016343.4(CENPF):c.574-2A>C variant DOID:0110595 Stromme syndrome IAGP D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Stromme syndrome PMID:25564561 10044359 CV188214 NM_016343.4(CENPF):c.8692C>T (p.Arg2898Ter) variant DOID:0110595 Stromme syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Stromme syndrome PMID:25564561|PMID:25741868|PMID:26197979 10044360 CV188217 NM_020458.4(TTC7A):c.764+1del variant DOID:14671 multiple intestinal atresia IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: INTESTINAL ATRESIA, MULTIPLE AND/OR INFLAMMATORY BOWEL DISEASE WITH OR WITHOUT IMMUNODEFICIENCY PMID:23830146 10044361 CV188218 NM_020458.4(TTC7A):c.315_318del (p.Asn104_Tyr105insTer) variant DOID:14671 multiple intestinal atresia IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Multiple gastrointestinal atresias PMID:23830146|PMID:25587526|PMID:25741868|PMID:28492532 10044362 CV188219 NM_020458.4(TTC7A):c.844-1G>T variant DOID:14671 multiple intestinal atresia IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Multiple gastrointestinal atresias PMID:16199547|PMID:23830146|PMID:24292712|PMID:24417819|PMID:25534311|PMID:28492532 10044363 CV188220 NM_020458.4(TTC7A):c.1204-2A>G variant DOID:14671 multiple intestinal atresia IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Multiple gastrointestinal atresias PMID:16199547|PMID:23830146|PMID:24292712|PMID:24417819|PMID:28492532 10044364 CV188221 NM_020458.4(TTC7A):c.1576C>T (p.Gln526Ter) variant DOID:14671 multiple intestinal atresia IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Multiple gastrointestinal atresias PMID:23830146|PMID:24292712|PMID:24417819|PMID:25741868|PMID:28492532 10044365 CV188274 NM_005006.7(NDUFS1):c.758T>G (p.Val253Gly) variant DOID:3687 MELAS syndrome IAGP D RGD:8554872 20190716 ClinVar ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke PMID:22499341 10044366 CV188286 NM_005592.4(MUSK):c.1724T>C (p.Ile575Thr) variant DOID:0111377 fetal akinesia deformation sequence syndrome 1 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25537362|PMID:25741868|PMID:28492532|PMID:28518170|PMID:31974414|PMID:32070632 10044366 CV188286 NM_005592.4(MUSK):c.1724T>C (p.Ile575Thr) variant DOID:11162 respiratory failure IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Respiratory insufficiency PMID:25537362|PMID:25741868|PMID:28492532|PMID:28518170|PMID:31974414|PMID:32070632 10044367 CV188288 NM_002582.4(PARN):c.529C>T (p.Gln177Ter) variant DOID:0070024 autosomal recessive dyskeratosis congenita 6 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 6 PMID:25741868|PMID:25848748|PMID:26810774|PMID:28492532|PMID:9736620 10044367 CV188288 NM_002582.4(PARN):c.529C>T (p.Gln177Ter) variant DOID:3770 pulmonary fibrosis IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis PMID:25741868|PMID:25848748|PMID:26810774|PMID:28492532|PMID:9736620 10044367 CV188288 NM_002582.4(PARN):c.529C>T (p.Gln177Ter) variant DOID:9002685 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 4 IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 PMID:25741868|PMID:25848748|PMID:26810774|PMID:28492532|PMID:9736620 10044368 CV188290 NM_002582.4(PARN):c.1262A>G (p.Lys421Arg) variant DOID:0070024 autosomal recessive dyskeratosis congenita 6 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 6 PMID:25848748|PMID:28492532 10044368 CV188290 NM_002582.4(PARN):c.1262A>G (p.Lys421Arg) variant DOID:9002685 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 4 IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 PMID:25848748|PMID:28492532 10044369 CV188443 NM_005751.5(AKAP9):c.4693-11del variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia 10044370 CV188448 NM_005751.5(AKAP9):c.5058+12T>G variant DOID:0110652 long QT syndrome 11 IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Long QT syndrome 11 PMID:25741868|PMID:28492532 10044370 CV188448 NM_005751.5(AKAP9):c.5058+12T>G variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10044371 CV188349 NM_001148.6(ANK2):c.1773T>C (p.Ser591=) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044372 CV188373 NM_001148.6(ANK2):c.2970A>C (p.Arg990=) variant DOID:0111700 ankyrin-B-related cardiac arrhythmia IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: ANKYRIN-B SYNDROME PMID:25741868|PMID:28492532 10044372 CV188373 NM_001148.6(ANK2):c.2970A>C (p.Arg990=) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10044373 CV188562 NM_000719.7(CACNA1C):c.2067C>T (p.Phe689=) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10044374 CV188586 NM_001167623.2(CACNA1C):c.3883A>G (p.Ile1295Val) variant DOID:0060173 Timothy syndrome IAGP D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Timothy syndrome PMID:25741868 10044375 CV188472 NM_201596.3(CACNB2):c.121-4_121-3insG variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia 10044376 CV188478 NM_201596.3(CACNB2):c.915T>C (p.Phe305=) variant DOID:0110221 Brugada syndrome 4 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Brugada syndrome 4 PMID:25741868|PMID:28492532 10044377 CV188323 NM_015141.4(GPD1L):c.81T>C (p.Asn27=) variant DOID:0050451 Brugada syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:25741868|PMID:28492532 10044377 CV188323 NM_015141.4(GPD1L):c.81T>C (p.Asn27=) variant DOID:0110219 Brugada syndrome 2 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Brugada syndrome 2 PMID:25741868|PMID:28492532 10044377 CV188323 NM_015141.4(GPD1L):c.81T>C (p.Asn27=) variant DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:25741868|PMID:28492532 10044378 CV188324 NM_015141.4(GPD1L):c.366+8G>A variant DOID:0050451 Brugada syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:28492532 10044379 CV188325 NM_015141.4(GPD1L):c.396G>A (p.Lys132=) variant DOID:0050451 Brugada syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:28492532 10044379 CV188325 NM_015141.4(GPD1L):c.396G>A (p.Lys132=) variant DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:28492532 10044380 CV188326 NM_015141.4(GPD1L):c.573C>G (p.Thr191=) variant DOID:0050451 Brugada syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:28492532 10044380 CV188326 NM_015141.4(GPD1L):c.573C>G (p.Thr191=) variant DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:28492532 10044381 CV188637 NM_005477.3(HCN4):c.1371+8C>T variant DOID:0110225 Brugada syndrome 8 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Brugada syndrome 8 PMID:25741868|PMID:26467025|PMID:28492532 10044381 CV188637 NM_005477.3(HCN4):c.1371+8C>T variant DOID:9003749 Sick Sinus Syndrome 2, Autosomal Dominant IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Sick sinus syndrome 2, autosomal dominant PMID:25741868|PMID:26467025|PMID:28492532 10044382 CV188636 NM_005477.3(HCN4):c.1683C>A (p.Gly561=) variant DOID:0110225 Brugada syndrome 8 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Brugada syndrome 8 PMID:25741868|PMID:26467025|PMID:28492532 10044382 CV188636 NM_005477.3(HCN4):c.1683C>A (p.Gly561=) variant DOID:9003749 Sick Sinus Syndrome 2, Autosomal Dominant IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Sick sinus syndrome 2, autosomal dominant PMID:25741868|PMID:26467025|PMID:28492532 10044383 CV188634 NM_005477.3(HCN4):c.1737+20G>A variant DOID:0110225 Brugada syndrome 8 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brugada syndrome 8 PMID:28492532 10044384 CV188626 NM_005477.3(HCN4):c.2831C>T (p.Ala944Val) variant DOID:0110225 Brugada syndrome 8 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Brugada syndrome 8 PMID:25741868|PMID:26467025|PMID:28492532 10044385 CV188625 NM_005477.3(HCN4):c.3033T>G (p.Ser1011=) variant DOID:0110225 Brugada syndrome 8 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Brugada syndrome 8 PMID:25741868|PMID:26467025|PMID:28492532 10044386 CV188753 NM_172201.2(KCNE2):c.354G>A (p.Gly118=) variant DOID:0110648 long QT syndrome 6 IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Long QT syndrome 6 PMID:28492532 10044386 CV188753 NM_172201.2(KCNE2):c.354G>A (p.Gly118=) variant DOID:9005392 Familial Atrial Fibrillation 4 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 4 PMID:28492532 10044387 CV188518 NM_005472.5(KCNE3):c.-190+18C>T variant DOID:0110223 Brugada syndrome 6 IAGP D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: KCNE3-related condition 10044388 CV188665 NM_000891.3(KCNJ2):c.1080C>T (p.Asp360=) variant DOID:0050434 Andersen-Tawil syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Andersen Tawil syndrome PMID:28492532 10044388 CV188665 NM_000891.3(KCNJ2):c.1080C>T (p.Asp360=) variant DOID:9001868 Short QT Syndrome 3 IAGP D RGD:8554872 20221227 ClinVar ClinVar Annotator: match by term: Short QT syndrome type 3 PMID:28492532 10044389 CV188504 NM_001040151.2(SCN3B):c.582C>T (p.Asn194=) variant DOID:0110224 Brugada syndrome 7 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Brugada syndrome 7 PMID:25741868|PMID:28492532 10044390 CV188507 NM_001040151.2(SCN3B):c.198C>T (p.Pro66=) variant DOID:0110224 Brugada syndrome 7 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Brugada syndrome 7 PMID:25741868|PMID:28492532 10044393 CV188073 NM_021728.4(OTX2):c.316del (p.Gln106fs) variant DOID:0111806 syndromic microphthalmia 5 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Microphthalmia syndromic 5 PMID:22577225 10044394 CV188223 NM_020458.4(TTC7A):c.211G>A (p.Glu71Lys) variant DOID:14671 multiple intestinal atresia IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Multiple gastrointestinal atresias PMID:24417819|PMID:25174867|PMID:25326635|PMID:25741868|PMID:27418642|PMID:27577878|PMID:28492532|PMID:28936210|PMID:32084423|PMID:32888943 10044394 CV188223 NM_020458.4(TTC7A):c.211G>A (p.Glu71Lys) variant DOID:9009203 Gastrointestinal defects and immunodeficiency syndrome IAGP D RGD:8554872 20240827 ClinVar ClinVar Annotator: match by term: Gastrointestinal defects and immunodeficiency syndrome PMID:24417819|PMID:25174867|PMID:25326635|PMID:25741868|PMID:27418642|PMID:27577878|PMID:28492532|PMID:28936210|PMID:32084423|PMID:32888943 10044396 CV188285 NM_005592.4(MUSK):c.40dup (p.Thr14fs) variant DOID:0111377 fetal akinesia deformation sequence syndrome 1 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Pena-Shokeir syndrome type I PMID:25612909 10044397 CV188287 NM_002582.4(PARN):c.246-2A>G variant DOID:3770 pulmonary fibrosis IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis PMID:25741868|PMID:25848748 10044397 CV188287 NM_002582.4(PARN):c.246-2A>G variant DOID:9002685 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 4 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 PMID:25741868|PMID:25848748 10044398 CV188289 NM_002582.4(PARN):c.563dup (p.Glu189fs) variant DOID:0070024 autosomal recessive dyskeratosis congenita 6 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 6 PMID:25848748|PMID:26810774|PMID:28492532|PMID:9736620 10044398 CV188289 NM_002582.4(PARN):c.563dup (p.Glu189fs) variant DOID:3770 pulmonary fibrosis IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis PMID:25848748|PMID:26810774|PMID:28492532|PMID:9736620 10044398 CV188289 NM_002582.4(PARN):c.563dup (p.Glu189fs) variant DOID:9002685 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 4 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 PMID:25848748|PMID:26810774|PMID:28492532|PMID:9736620 10044399 CV188291 NM_001283009.2(RTEL1):c.602del (p.Gly201fs) variant DOID:3770 pulmonary fibrosis IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis PMID:25848748 10044399 CV188291 NM_001283009.2(RTEL1):c.602del (p.Gly201fs) variant DOID:9008668 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 3 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 PMID:25848748 10044400 CV188292 NM_001283009.2(RTEL1):c.1451C>T (p.Pro484Leu) variant DOID:0070022 autosomal recessive dyskeratosis congenita 5 IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 5 PMID:25848748|PMID:28492532 10044400 CV188292 NM_001283009.2(RTEL1):c.1451C>T (p.Pro484Leu) variant DOID:3770 pulmonary fibrosis IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis PMID:25848748|PMID:28492532 10044400 CV188292 NM_001283009.2(RTEL1):c.1451C>T (p.Pro484Leu) variant DOID:9008668 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 3 IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 PMID:25848748|PMID:28492532 10044402 CV188294 NM_001283009.2(RTEL1):c.3371A>C (p.His1124Pro) variant DOID:3770 pulmonary fibrosis IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis PMID:25848748 10044402 CV188294 NM_001283009.2(RTEL1):c.3371A>C (p.His1124Pro) variant DOID:9008668 Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 3 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 PMID:25848748 10044403 CV188296 NM_001040431.3(COA3):c.199dup (p.Leu67fs) variant DOID:0070491 mitochondrial complex IV deficiency nuclear type 1 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Mitochondrial complex IV deficiency, nuclear type 1 PMID:25604084 10044404 CV188441 NM_005751.5(AKAP9):c.4004_4006dup (p.Lys1335_Leu1336insGln) variant DOID:0110644 long QT syndrome 1 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 10044404 CV188441 NM_005751.5(AKAP9):c.4004_4006dup (p.Lys1335_Leu1336insGln) variant DOID:0110652 long QT syndrome 11 IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Long QT syndrome 11 PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 10044404 CV188441 NM_005751.5(AKAP9):c.4004_4006dup (p.Lys1335_Leu1336insGln) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 10044404 CV188441 NM_005751.5(AKAP9):c.4004_4006dup (p.Lys1335_Leu1336insGln) variant DOID:9004730 Romano-Ward Syndrome IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 10044405 CV188612 NM_000719.7(CACNA1C):c.5157C>G (p.Pro1719=) variant DOID:0060173 Timothy syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Timothy syndrome PMID:25741868|PMID:28492532 10044405 CV188612 NM_000719.7(CACNA1C):c.5157C>G (p.Pro1719=) variant DOID:0110220 Brugada syndrome 3 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Brugada syndrome 3 PMID:25741868|PMID:28492532 10044405 CV188612 NM_000719.7(CACNA1C):c.5157C>G (p.Pro1719=) variant DOID:0110649 long QT syndrome 8 IAGP D RGD:8554872 20240305 ClinVar ClinVar Annotator: match by term: Long qt syndrome 8 PMID:25741868|PMID:28492532 10044405 CV188612 NM_000719.7(CACNA1C):c.5157C>G (p.Pro1719=) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10044406 CV188614 NM_000719.7(CACNA1C):c.5235C>T (p.His1745=) variant DOID:0060173 Timothy syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: CACNA1C-related disorder PMID:28492532 10044406 CV188614 NM_000719.7(CACNA1C):c.5235C>T (p.His1745=) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044412 CV188702 NM_001037.5(SCN1B):c.492T>C (p.Tyr164=) variant DOID:0110222 Brugada syndrome 5 IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 10044412 CV188702 NM_001037.5(SCN1B):c.492T>C (p.Tyr164=) variant DOID:0111302 generalized epilepsy with febrile seizures plus 1 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 1 PMID:28492532 10044416 CV188297 NM_001040431.3(COA3):c.215A>G (p.Tyr72Cys) variant DOID:0070491 mitochondrial complex IV deficiency nuclear type 1 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Mitochondrial complex IV deficiency, nuclear type 1 PMID:25604084|PMID:28492532|PMID:36344503 10044417 CV188764 NM_000540.3(RYR1):c.2097_2123del (p.Glu699_Gly707del) variant DOID:0080991 congenital myopathy 1B IAGP D RGD:8554872 20211109 ClinVar ClinVar Annotator: match by term: Minicore myopathy with external ophthalmoplegia PMID:25476234 10044419 CV178768 NM_003002.4(SDHD):c.275A>G (p.Asp92Gly) variant DOID:0111479 combined oxidative phosphorylation deficiency 8 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Fatal infantile mitochondrial cardiomyopathy PMID:26008905 10044419 CV178768 NM_003002.4(SDHD):c.275A>G (p.Asp92Gly) variant DOID:9003007 Mitochondrial Complex II Deficiency Nuclear Type 3 IAGP D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3 PMID:26008905 10044421 CV188270 NM_153747.2(PIGC):c.659T>C (p.Leu220Pro) variant DOID:0081223 glycosylphosphatidylinositol biosynthesis defect 16 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Glycosylphosphatidylinositol biosynthesis defect 16 PMID:25741868|PMID:26036949 10044421 CV188270 NM_153747.2(PIGC):c.659T>C (p.Leu220Pro) variant DOID:9008386 Hydrops Fetalis IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:25741868|PMID:26036949 10044422 CV188273 NM_000079.4(CHRNA1):c.687C>T (p.Arg229=) variant DOID:9008386 Hydrops Fetalis IAGP D RGD:8554872 20180710 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:26036949 10044423 CV188269 NM_031282.3(FCRL4):c.847+1G>A variant DOID:9008386 Hydrops Fetalis IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:25741868 10044424 CV188271 NM_001367479.1(DNAH14):c.3755T>A (p.Met1252Lys) variant DOID:9008386 Hydrops Fetalis IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:26036949 10044425 CV188281 NM_018676.4(THSD1):c.617G>A (p.Cys206Tyr) variant DOID:9008230 Lymphatic Malformation 13 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Lymphatic malformation 13 PMID:25741868|PMID:26036949|PMID:28749478 10044425 CV188281 NM_018676.4(THSD1):c.617G>A (p.Cys206Tyr) variant DOID:9008386 Hydrops Fetalis IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:25741868|PMID:26036949|PMID:28749478 10044426 CV188284 NM_000308.4(CTSA):c.595del (p.Leu199fs) variant DOID:0080540 galactosialidosis IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined deficiency of sialidase AND beta galactosidase PMID:26036949 10044426 CV188284 NM_000308.4(CTSA):c.595del (p.Leu199fs) variant DOID:9008386 Hydrops Fetalis IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:26036949 10044427 CV188277 NM_000181.4(GUSB):c.398G>C (p.Trp133Ser) variant DOID:9008386 Hydrops Fetalis IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:26036949 10044428 CV188279 NM_003506.4(FZD6):c.869A>G (p.Tyr290Cys) variant DOID:0080079 nonsyndromic congenital nail disorder 1 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Nonsyndromic congenital nail disorder 1 PMID:25741868|PMID:26036949 10044428 CV188279 NM_003506.4(FZD6):c.869A>G (p.Tyr290Cys) variant DOID:9008386 Hydrops Fetalis IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:25741868|PMID:26036949 10044429 CV188275 NM_024572.4(GALNT14):c.1273C>T (p.Arg425Ter) variant DOID:9008386 Hydrops Fetalis IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:25741868|PMID:26036949 10044430 CV188278 NM_000181.4(GUSB):c.307C>T (p.Arg103Trp) variant DOID:12803 mucopolysaccharidosis type VII IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Sly syndrome PMID:25741868|PMID:26036949|PMID:28492532|PMID:31130284 10044430 CV188278 NM_000181.4(GUSB):c.307C>T (p.Arg103Trp) variant DOID:9008386 Hydrops Fetalis IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:25741868|PMID:26036949|PMID:28492532|PMID:31130284 10044431 CV188276 NM_000181.4(GUSB):c.1586A>G (p.Tyr529Cys) variant DOID:9008386 Hydrops Fetalis IAGP D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:26036949 10044432 CV188280 NM_018676.4(THSD1):c.670C>T (p.Arg224Ter) variant DOID:9008230 Lymphatic Malformation 13 IAGP D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Lymphatic malformation 13 PMID:26036949 10044432 CV188280 NM_018676.4(THSD1):c.670C>T (p.Arg224Ter) variant DOID:9008386 Hydrops Fetalis IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:26036949 10044433 CV188298 NM_032492.4(JAGN1):c.40G>A (p.Gly14Ser) variant DOID:0050590 severe congenital neutropenia IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Severe congenital neutropenia PMID:25129144|PMID:25741868|PMID:27980538|PMID:28492532|PMID:33206996 10044433 CV188298 NM_032492.4(JAGN1):c.40G>A (p.Gly14Ser) variant DOID:0112134 severe congenital neutropenia 6 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency PMID:25129144|PMID:25741868|PMID:27980538|PMID:28492532|PMID:33206996 10044434 CV188300 NM_032492.4(JAGN1):c.297C>G (p.Tyr99Ter) variant DOID:0050590 severe congenital neutropenia IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Severe congenital neutropenia PMID:25129144 10044435 CV188738 NM_003098.3(SNTA1):c.311-6G>A variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044436 CV188295 NM_001242896.3(DEPDC5):c.418C>T (p.Gln140Ter) variant DOID:0081420 familial focal epilepsy with variable foci IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Familial focal epilepsy with variable foci PMID:23542697|PMID:23542701|PMID:24585383|PMID:25741868|PMID:27066554|PMID:28199897|PMID:28492532|PMID:30767899|PMID:32848577 10044436 CV188295 NM_001242896.3(DEPDC5):c.418C>T (p.Gln140Ter) variant DOID:0081421 familial focal epilepsy with variable foci 1 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Epilepsy, familial focal, with variable foci 1 PMID:23542697|PMID:23542701|PMID:24585383|PMID:25741868|PMID:27066554|PMID:28199897|PMID:28492532|PMID:30767899|PMID:32848577 10044438 CV188446 NM_005751.5(AKAP9):c.4927A>C (p.Ile1643Leu) variant DOID:0110652 long QT syndrome 11 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: AKAP9-related condition PMID:25016126|PMID:28492532 10044438 CV188446 NM_005751.5(AKAP9):c.4927A>C (p.Ile1643Leu) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25016126|PMID:28492532 10044439 CV188447 NM_005751.5(AKAP9):c.4985C>T (p.Ala1662Val) variant DOID:0110652 long QT syndrome 11 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: AKAP9-related condition PMID:28492532 10044439 CV188447 NM_005751.5(AKAP9):c.4985C>T (p.Ala1662Val) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044440 CV188449 NM_005751.5(AKAP9):c.5117A>G (p.Asp1706Gly) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044442 CV188452 NM_005751.5(AKAP9):c.7034_7036del (p.Arg2345_Glu2346delinsLys) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044442 CV188452 NM_005751.5(AKAP9):c.7034_7036del (p.Arg2345_Glu2346delinsLys) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:28492532 10044446 CV188464 NM_005751.5(AKAP9):c.11225G>C (p.Arg3742Pro) variant DOID:0110652 long QT syndrome 11 IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Long QT syndrome 11 PMID:23861362|PMID:25741868|PMID:28492532 10044446 CV188464 NM_005751.5(AKAP9):c.11225G>C (p.Arg3742Pro) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25741868|PMID:28492532 10044447 CV188465 NM_005751.5(AKAP9):c.11519T>C (p.Ile3840Thr) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044448 CV188432 NM_005751.5(AKAP9):c.288G>T (p.Glu96Asp) variant DOID:0110652 long QT syndrome 11 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome 11 PMID:25741868|PMID:28492532 10044448 CV188432 NM_005751.5(AKAP9):c.288G>T (p.Glu96Asp) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10044449 CV188433 NM_005751.5(AKAP9):c.289C>G (p.Gln97Glu) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044450 CV188436 NM_005751.5(AKAP9):c.1158A>T (p.Lys386Asn) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:28492532 10044451 CV188438 NM_005751.5(AKAP9):c.1538A>G (p.Lys513Arg) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044452 CV188439 NM_005751.5(AKAP9):c.2425A>G (p.Ile809Val) variant DOID:0110652 long QT syndrome 11 IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Long QT syndrome 11 PMID:23861362|PMID:25741868|PMID:28492532 10044452 CV188439 NM_005751.5(AKAP9):c.2425A>G (p.Ile809Val) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25741868|PMID:28492532 10044453 CV188440 NM_005751.5(AKAP9):c.2477T>C (p.Ile826Thr) variant DOID:0110644 long QT syndrome 1 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:28492532 10044453 CV188440 NM_005751.5(AKAP9):c.2477T>C (p.Ile826Thr) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044453 CV188440 NM_005751.5(AKAP9):c.2477T>C (p.Ile826Thr) variant DOID:9004730 Romano-Ward Syndrome IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome PMID:28492532 10044454 CV188442 NM_005751.5(AKAP9):c.4127G>C (p.Ser1376Thr) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10044455 CV188458 NM_005751.5(AKAP9):c.10118C>A (p.Ser3373Tyr) variant DOID:0110644 long QT syndrome 1 IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:23861362|PMID:28492532 10044455 CV188458 NM_005751.5(AKAP9):c.10118C>A (p.Ser3373Tyr) variant DOID:0110652 long QT syndrome 11 IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Long QT syndrome 11 PMID:23861362|PMID:28492532 10044455 CV188458 NM_005751.5(AKAP9):c.10118C>A (p.Ser3373Tyr) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:28492532 10044455 CV188458 NM_005751.5(AKAP9):c.10118C>A (p.Ser3373Tyr) variant DOID:9004730 Romano-Ward Syndrome IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome PMID:23861362|PMID:28492532 10044456 CV188459 NM_005751.5(AKAP9):c.10254G>C (p.Gln3418His) variant DOID:0110652 long QT syndrome 11 IAGP D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: Long QT syndrome 11 PMID:23861362|PMID:28492532 10044456 CV188459 NM_005751.5(AKAP9):c.10254G>C (p.Gln3418His) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:28492532 10044457 CV188435 NM_005751.5(AKAP9):c.610G>A (p.Asp204Asn) variant DOID:0110652 long QT syndrome 11 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome 11 PMID:23861362|PMID:25741868|PMID:28492532 10044457 CV188435 NM_005751.5(AKAP9):c.610G>A (p.Asp204Asn) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25741868|PMID:28492532 10044458 CV188463 NM_005751.5(AKAP9):c.10664A>T (p.Asp3555Val) variant DOID:0110644 long QT syndrome 1 IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 PMID:23861362|PMID:28074886|PMID:28492532 10044458 CV188463 NM_005751.5(AKAP9):c.10664A>T (p.Asp3555Val) variant DOID:0110652 long QT syndrome 11 IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Long QT syndrome 11 PMID:23861362|PMID:28074886|PMID:28492532 10044458 CV188463 NM_005751.5(AKAP9):c.10664A>T (p.Asp3555Val) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:28074886|PMID:28492532 10044458 CV188463 NM_005751.5(AKAP9):c.10664A>T (p.Asp3555Val) variant DOID:9004730 Romano-Ward Syndrome IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome PMID:23861362|PMID:28074886|PMID:28492532 10044459 CV188450 NM_005751.5(AKAP9):c.5977C>T (p.Gln1993Ter) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532|PMID:34495297 10044461 CV188434 NM_005751.5(AKAP9):c.510G>C (p.Glu170Asp) variant DOID:0060674 catecholaminergic polymorphic ventricular tachycardia IAGP D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:23861362|PMID:25741868|PMID:28492532 10044461 CV188434 NM_005751.5(AKAP9):c.510G>C (p.Glu170Asp) variant DOID:0110218 Brugada syndrome 1 IAGP D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Right bundle branch block, ST segment elevation, and sudden death syndrome PMID:23861362|PMID:25741868|PMID:28492532 10044461 CV188434 NM_005751.5(AKAP9):c.510G>C (p.Glu170Asp) variant DOID:0110644 long QT syndrome 1 IAGP D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:23861362|PMID:25741868|PMID:28492532 10044461 CV188434 NM_005751.5(AKAP9):c.510G>C (p.Glu170Asp) variant DOID:0110652 long QT syndrome 11 IAGP D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Long QT syndrome 11 PMID:23861362|PMID:25741868|PMID:28492532 10044461 CV188434 NM_005751.5(AKAP9):c.510G>C (p.Glu170Asp) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25741868|PMID:28492532 10044461 CV188434 NM_005751.5(AKAP9):c.510G>C (p.Glu170Asp) variant DOID:9004730 Romano-Ward Syndrome IAGP D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome PMID:23861362|PMID:25741868|PMID:28492532 10044462 CV188333 NM_001148.6(ANK2):c.669+3A>G variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044463 CV188355 NM_001148.6(ANK2):c.2144C>T (p.Thr715Ile) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532|PMID:30847666 10044464 CV188392 NM_001148.6(ANK2):c.9854T>C (p.Ile3285Thr) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:17161064|PMID:23861362|PMID:24448499|PMID:25649125|PMID:25741868|PMID:26159999|PMID:28492532 10044464 CV188392 NM_001148.6(ANK2):c.9854T>C (p.Ile3285Thr) variant DOID:0060224 atrial fibrillation IAGP D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Atrial fibrillation PMID:17161064|PMID:23861362|PMID:24448499|PMID:25649125|PMID:25741868|PMID:26159999|PMID:28492532 10044464 CV188392 NM_001148.6(ANK2):c.9854T>C (p.Ile3285Thr) variant DOID:0111700 ankyrin-B-related cardiac arrhythmia IAGP D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: ANKYRIN-B SYNDROME PMID:17161064|PMID:23861362|PMID:24448499|PMID:25649125|PMID:25741868|PMID:26159999|PMID:28492532 10044464 CV188392 NM_001148.6(ANK2):c.9854T>C (p.Ile3285Thr) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:17161064|PMID:23861362|PMID:24448499|PMID:25649125|PMID:25741868|PMID:26159999|PMID:28492532 10044465 CV188395 NM_001148.6(ANK2):c.10703G>A (p.Arg3568Gln) variant DOID:0111700 ankyrin-B-related cardiac arrhythmia IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: ANKYRIN-B SYNDROME PMID:23631430|PMID:25741868|PMID:28492532 10044465 CV188395 NM_001148.6(ANK2):c.10703G>A (p.Arg3568Gln) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23631430|PMID:25741868|PMID:28492532 10044466 CV188407 NM_001148.6(ANK2):c.11465G>C (p.Gly3822Ala) variant DOID:0111700 ankyrin-B-related cardiac arrhythmia IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: ANKYRIN-B SYNDROME PMID:25741868|PMID:28492532 10044466 CV188407 NM_001148.6(ANK2):c.11465G>C (p.Gly3822Ala) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10044467 CV188410 NM_001148.6(ANK2):c.11493G>T (p.Glu3831Asp) variant DOID:0111700 ankyrin-B-related cardiac arrhythmia IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: ANKYRIN-B SYNDROME PMID:25741868|PMID:28492532 10044467 CV188410 NM_001148.6(ANK2):c.11493G>T (p.Glu3831Asp) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10044468 CV188412 NM_001148.6(ANK2):c.11524C>T (p.Arg3842Trp) variant DOID:0111700 ankyrin-B-related cardiac arrhythmia IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: ANK2-related condition PMID:25351510|PMID:26164358|PMID:28492532 10044468 CV188412 NM_001148.6(ANK2):c.11524C>T (p.Arg3842Trp) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25351510|PMID:26164358|PMID:28492532 10044471 CV188331 NM_001148.6(ANK2):c.176C>T (p.Thr59Ile) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044472 CV188334 NM_001148.6(ANK2):c.827G>A (p.Arg276Lys) variant DOID:0111700 ankyrin-B-related cardiac arrhythmia IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia, ankyrin-B-related PMID:25741868|PMID:28492532 10044472 CV188334 NM_001148.6(ANK2):c.827G>A (p.Arg276Lys) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10044473 CV188336 NM_001148.6(ANK2):c.962G>A (p.Arg321Gln) variant DOID:0111700 ankyrin-B-related cardiac arrhythmia IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: ANKYRIN-B SYNDROME PMID:23861362|PMID:28492532 10044473 CV188336 NM_001148.6(ANK2):c.962G>A (p.Arg321Gln) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:28492532 10044474 CV188338 NM_001148.6(ANK2):c.1135C>T (p.Arg379Cys) variant DOID:0111700 ankyrin-B-related cardiac arrhythmia IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: ANKYRIN-B SYNDROME PMID:25741868|PMID:27391121|PMID:28492532|PMID:28988457 10044474 CV188338 NM_001148.6(ANK2):c.1135C>T (p.Arg379Cys) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:27391121|PMID:28492532|PMID:28988457 10044477 CV188344 NM_001148.6(ANK2):c.1397C>T (p.Thr466Met) variant DOID:0111700 ankyrin-B-related cardiac arrhythmia IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: ANKYRIN-B SYNDROME PMID:25741868|PMID:28492532|PMID:30847666|PMID:33004838 10044477 CV188344 NM_001148.6(ANK2):c.1397C>T (p.Thr466Met) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532|PMID:30847666|PMID:33004838 10044478 CV188346 NM_001148.6(ANK2):c.1579A>G (p.Thr527Ala) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044480 CV188351 NM_001148.6(ANK2):c.1910C>T (p.Ala637Val) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive PMID:25741868|PMID:28341588|PMID:28492532|PMID:30415094|PMID:33004838 10044480 CV188351 NM_001148.6(ANK2):c.1910C>T (p.Ala637Val) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28341588|PMID:28492532|PMID:30415094|PMID:33004838 10044481 CV188352 NM_001148.6(ANK2):c.1937C>T (p.Ser646Phe) variant DOID:0111700 ankyrin-B-related cardiac arrhythmia IAGP D RGD:8554872 20240102 ClinVar ClinVar Annotator: match by term: ANK2-related condition PMID:25741868 10044482 CV188357 NM_001148.6(ANK2):c.2266G>A (p.Ala756Thr) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28191889|PMID:28492532|PMID:33004838 10044482 CV188357 NM_001148.6(ANK2):c.2266G>A (p.Ala756Thr) variant DOID:9005141 Ventricular Tachycardia IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:25741868|PMID:28191889|PMID:28492532|PMID:33004838 10044483 CV188363 NM_001148.6(ANK2):c.2806C>G (p.Leu936Val) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044484 CV188371 NM_001148.6(ANK2):c.2900+5141G>A variant DOID:0111700 ankyrin-B-related cardiac arrhythmia IAGP D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia, ankyrin-B-related PMID:25741868 10044485 CV188372 NM_001148.6(ANK2):c.2969G>A (p.Arg990Gln) variant DOID:0111700 ankyrin-B-related cardiac arrhythmia IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: ANKYRIN-B SYNDROME PMID:25351510|PMID:25632041|PMID:25741868|PMID:28191889|PMID:28492532|PMID:33004838 10044485 CV188372 NM_001148.6(ANK2):c.2969G>A (p.Arg990Gln) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25351510|PMID:25632041|PMID:25741868|PMID:28191889|PMID:28492532|PMID:33004838 10044486 CV188374 NM_001148.6(ANK2):c.3067G>A (p.Gly1023Arg) variant DOID:0111700 ankyrin-B-related cardiac arrhythmia IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: ANKYRIN-B SYNDROME PMID:25741868|PMID:28191889|PMID:28492532 10044486 CV188374 NM_001148.6(ANK2):c.3067G>A (p.Gly1023Arg) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28191889|PMID:28492532 10044487 CV188376 NM_001148.6(ANK2):c.3082A>G (p.Ser1028Gly) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044488 CV188385 NM_001148.6(ANK2):c.3931G>A (p.Val1311Ile) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044489 CV188387 NM_001148.6(ANK2):c.4016C>T (p.Pro1339Leu) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25650408|PMID:28492532|PMID:33004838 10044490 CV188388 NM_001148.6(ANK2):c.4310C>T (p.Thr1437Met) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:24828792|PMID:25351510|PMID:25741868|PMID:28341588|PMID:28492532|PMID:28750076|PMID:33029862 10044490 CV188388 NM_001148.6(ANK2):c.4310C>T (p.Thr1437Met) variant DOID:0111700 ankyrin-B-related cardiac arrhythmia IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ANKYRIN-B SYNDROME PMID:24828792|PMID:25351510|PMID:25741868|PMID:28341588|PMID:28492532|PMID:28750076|PMID:33029862 10044490 CV188388 NM_001148.6(ANK2):c.4310C>T (p.Thr1437Met) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:24828792|PMID:25351510|PMID:25741868|PMID:28341588|PMID:28492532|PMID:28750076|PMID:33029862 10044491 CV188393 NM_001148.6(ANK2):c.10693G>A (p.Glu3565Lys) variant DOID:6000 congestive heart failure IAGP D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Congestive heart failure PMID:25741868 10044492 CV188394 NM_001148.6(ANK2):c.10702C>T (p.Arg3568Trp) variant DOID:0111700 ankyrin-B-related cardiac arrhythmia IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ANKYRIN-B SYNDROME PMID:25351510|PMID:25741868|PMID:28492532|PMID:30086531|PMID:30564305|PMID:30847666 10044492 CV188394 NM_001148.6(ANK2):c.10702C>T (p.Arg3568Trp) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25351510|PMID:25741868|PMID:28492532|PMID:30086531|PMID:30564305|PMID:30847666 10044493 CV188396 NM_001148.6(ANK2):c.10820A>G (p.Asn3607Ser) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044494 CV188401 NM_001148.6(ANK2):c.11119G>A (p.Asp3707Asn) variant DOID:0111700 ankyrin-B-related cardiac arrhythmia IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: ANKYRIN-B SYNDROME PMID:21270786|PMID:23861362|PMID:25741868|PMID:27871843|PMID:27981572|PMID:28492532 10044494 CV188401 NM_001148.6(ANK2):c.11119G>A (p.Asp3707Asn) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:21270786|PMID:23861362|PMID:25741868|PMID:27871843|PMID:27981572|PMID:28492532 10044494 CV188401 NM_001148.6(ANK2):c.11119G>A (p.Asp3707Asn) variant DOID:9000006 Supraventricular Tachycardia IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Supraventricular tachycardia PMID:21270786|PMID:23861362|PMID:25741868|PMID:27871843|PMID:27981572|PMID:28492532 10044495 CV188402 NM_001148.6(ANK2):c.11134G>A (p.Val3712Ile) variant DOID:0111700 ankyrin-B-related cardiac arrhythmia IAGP D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia, ankyrin B-related PMID:25741868|PMID:28492532 10044495 CV188402 NM_001148.6(ANK2):c.11134G>A (p.Val3712Ile) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10044496 CV188404 NM_001148.6(ANK2):c.11230A>C (p.Thr3744Pro) variant DOID:0111700 ankyrin-B-related cardiac arrhythmia IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: ANKYRIN-B SYNDROME PMID:15178757|PMID:25741868|PMID:28492532|PMID:29247119 10044496 CV188404 NM_001148.6(ANK2):c.11230A>C (p.Thr3744Pro) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:15178757|PMID:25741868|PMID:28492532|PMID:29247119 10044497 CV188405 NM_001148.6(ANK2):c.11354A>G (p.Gln3785Arg) variant DOID:0111700 ankyrin-B-related cardiac arrhythmia IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: ANKYRIN-B SYNDROME PMID:25741868|PMID:26159999|PMID:28492532 10044497 CV188405 NM_001148.6(ANK2):c.11354A>G (p.Gln3785Arg) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:26159999|PMID:28492532 10044499 CV188417 NM_001148.6(ANK2):c.11611G>A (p.Gly3871Arg) variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:28191889|PMID:28492532|PMID:33004838 10044499 CV188417 NM_001148.6(ANK2):c.11611G>A (p.Gly3871Arg) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28191889|PMID:28492532|PMID:33004838 10044503 CV188339 NM_001148.6(ANK2):c.1136G>T (p.Arg379Leu) variant DOID:0111700 ankyrin-B-related cardiac arrhythmia IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: ANKYRIN-B SYNDROME PMID:25741868|PMID:28492532|PMID:28518168|PMID:32461654 10044503 CV188339 NM_001148.6(ANK2):c.1136G>T (p.Arg379Leu) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532|PMID:28518168|PMID:32461654 10044505 CV188353 NM_001148.6(ANK2):c.2060A>G (p.Asn687Ser) variant DOID:0050451 Brugada syndrome IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:17161064|PMID:23861362|PMID:25741868|PMID:28492532|PMID:28518168|PMID:29874177|PMID:32461654 10044505 CV188353 NM_001148.6(ANK2):c.2060A>G (p.Asn687Ser) variant DOID:0111700 ankyrin-B-related cardiac arrhythmia IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: ANKYRIN-B SYNDROME PMID:17161064|PMID:23861362|PMID:25741868|PMID:28492532|PMID:28518168|PMID:29874177|PMID:32461654 10044505 CV188353 NM_001148.6(ANK2):c.2060A>G (p.Asn687Ser) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:17161064|PMID:23861362|PMID:25741868|PMID:28492532|PMID:28518168|PMID:29874177|PMID:32461654 10044505 CV188353 NM_001148.6(ANK2):c.2060A>G (p.Asn687Ser) variant DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:17161064|PMID:23861362|PMID:25741868|PMID:28492532|PMID:28518168|PMID:29874177|PMID:32461654 10044508 CV188378 NM_001148.6(ANK2):c.3143C>T (p.Thr1048Met) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044509 CV188382 NM_001148.6(ANK2):c.3577C>T (p.Arg1193Cys) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10044510 CV188383 NM_001148.6(ANK2):c.3623A>C (p.Lys1208Thr) variant DOID:0111700 ankyrin-B-related cardiac arrhythmia IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: ANKYRIN-B SYNDROME PMID:25741868|PMID:28492532 10044510 CV188383 NM_001148.6(ANK2):c.3623A>C (p.Lys1208Thr) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10044512 CV188390 NM_001148.6(ANK2):c.4369A>G (p.Lys1457Glu) variant DOID:0111700 ankyrin-B-related cardiac arrhythmia IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: ANKYRIN-B SYNDROME PMID:24033266|PMID:25351510|PMID:25741868|PMID:28492532 10044512 CV188390 NM_001148.6(ANK2):c.4369A>G (p.Lys1457Glu) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:24033266|PMID:25351510|PMID:25741868|PMID:28492532 10044514 CV188403 NM_001148.6(ANK2):c.11229A>T (p.Gln3743His) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044515 CV188413 NM_001148.6(ANK2):c.11548G>A (p.Glu3850Lys) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044516 CV188414 NM_001148.6(ANK2):c.11555C>G (p.Ala3852Gly) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044517 CV188416 NM_001148.6(ANK2):c.11594A>G (p.Asp3865Gly) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20180508 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23631430|PMID:23861362|PMID:28492532 10044518 CV188557 NM_000719.7(CACNA1C):c.1783G>A (p.Val595Ile) variant DOID:0060173 Timothy syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: CACNA1C-related disorder PMID:28492532 10044518 CV188557 NM_000719.7(CACNA1C):c.1783G>A (p.Val595Ile) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044520 CV188595 NM_000719.7(CACNA1C):c.3946-12G>A variant DOID:0060173 Timothy syndrome IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: CACNA1C-related disorder PMID:23861362|PMID:26220970|PMID:28492532 10044520 CV188595 NM_000719.7(CACNA1C):c.3946-12G>A variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:26220970|PMID:28492532 10044521 CV188609 NM_000719.7(CACNA1C):c.5119G>A (p.Val1707Ile) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10044522 CV188610 NM_000719.7(CACNA1C):c.5120T>C (p.Val1707Ala) variant DOID:0060173 Timothy syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Timothy syndrome PMID:25741868|PMID:28492532 10044522 CV188610 NM_000719.7(CACNA1C):c.5120T>C (p.Val1707Ala) variant DOID:0110220 Brugada syndrome 3 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Brugada syndrome 3 PMID:25741868|PMID:28492532 10044522 CV188610 NM_000719.7(CACNA1C):c.5120T>C (p.Val1707Ala) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10044523 CV188616 NM_000719.7(CACNA1C):c.5478G>A (p.Ala1826=) variant DOID:0060173 Timothy syndrome IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: CACNA1C-related disorder PMID:25741868|PMID:28492532 10044523 CV188616 NM_000719.7(CACNA1C):c.5478G>A (p.Ala1826=) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10044524 CV188618 NM_000719.7(CACNA1C):c.5885G>A (p.Arg1962Gln) variant DOID:0060173 Timothy syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Timothy syndrome PMID:25633834|PMID:25741868|PMID:27930701|PMID:28492532 10044524 CV188618 NM_000719.7(CACNA1C):c.5885G>A (p.Arg1962Gln) variant DOID:0110220 Brugada syndrome 3 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Brugada syndrome 3 PMID:25633834|PMID:25741868|PMID:27930701|PMID:28492532 10044524 CV188618 NM_000719.7(CACNA1C):c.5885G>A (p.Arg1962Gln) variant DOID:0110649 long QT syndrome 8 IAGP D RGD:8554872 20240305 ClinVar ClinVar Annotator: match by term: Long qt syndrome 8 PMID:25633834|PMID:25741868|PMID:27930701|PMID:28492532 10044524 CV188618 NM_000719.7(CACNA1C):c.5885G>A (p.Arg1962Gln) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25633834|PMID:25741868|PMID:27930701|PMID:28492532 10044525 CV188619 NM_000719.7(CACNA1C):c.5929G>A (p.Val1977Ile) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044526 CV188620 NM_000719.7(CACNA1C):c.5975G>T (p.Cys1992Phe) variant DOID:0050451 Brugada syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:25633834|PMID:25741868|PMID:28492532|PMID:30279520 10044526 CV188620 NM_000719.7(CACNA1C):c.5975G>T (p.Cys1992Phe) variant DOID:0060173 Timothy syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Timothy syndrome PMID:25633834|PMID:25741868|PMID:28492532|PMID:30279520 10044526 CV188620 NM_000719.7(CACNA1C):c.5975G>T (p.Cys1992Phe) variant DOID:0110220 Brugada syndrome 3 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brugada syndrome 3 PMID:25633834|PMID:25741868|PMID:28492532|PMID:30279520 10044526 CV188620 NM_000719.7(CACNA1C):c.5975G>T (p.Cys1992Phe) variant DOID:0110649 long QT syndrome 8 IAGP D RGD:8554872 20240305 ClinVar ClinVar Annotator: match by term: Long qt syndrome 8 PMID:25633834|PMID:25741868|PMID:28492532|PMID:30279520 10044526 CV188620 NM_000719.7(CACNA1C):c.5975G>T (p.Cys1992Phe) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25633834|PMID:25741868|PMID:28492532|PMID:30279520 10044526 CV188620 NM_000719.7(CACNA1C):c.5975G>T (p.Cys1992Phe) variant DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:25633834|PMID:25741868|PMID:28492532|PMID:30279520 10044527 CV188621 NM_000719.7(CACNA1C):c.6050T>C (p.Met2017Thr) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044529 CV188539 NM_000719.7(CACNA1C):c.911T>C (p.Ile304Thr) variant DOID:0060173 Timothy syndrome IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Timothy syndrome PMID:23861362|PMID:25633834|PMID:25741868|PMID:28492532|PMID:30847666|PMID:34999275|PMID:37901857 10044529 CV188539 NM_000719.7(CACNA1C):c.911T>C (p.Ile304Thr) variant DOID:0070536 neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures PMID:23861362|PMID:25633834|PMID:25741868|PMID:28492532|PMID:30847666|PMID:34999275|PMID:37901857 10044529 CV188539 NM_000719.7(CACNA1C):c.911T>C (p.Ile304Thr) variant DOID:0110220 Brugada syndrome 3 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Brugada syndrome 3 PMID:23861362|PMID:25633834|PMID:25741868|PMID:28492532|PMID:30847666|PMID:34999275|PMID:37901857 10044529 CV188539 NM_000719.7(CACNA1C):c.911T>C (p.Ile304Thr) variant DOID:0110649 long QT syndrome 8 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Long qt syndrome 8 PMID:23861362|PMID:25633834|PMID:25741868|PMID:28492532|PMID:30847666|PMID:34999275|PMID:37901857 10044529 CV188539 NM_000719.7(CACNA1C):c.911T>C (p.Ile304Thr) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25633834|PMID:25741868|PMID:28492532|PMID:30847666|PMID:34999275|PMID:37901857 10044530 CV188540 NM_000719.7(CACNA1C):c.985G>A (p.Gly329Ser) variant DOID:0060173 Timothy syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Timothy syndrome PMID:25741868|PMID:28492532 10044530 CV188540 NM_000719.7(CACNA1C):c.985G>A (p.Gly329Ser) variant DOID:0110220 Brugada syndrome 3 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brugada syndrome 3 PMID:25741868|PMID:28492532 10044530 CV188540 NM_000719.7(CACNA1C):c.985G>A (p.Gly329Ser) variant DOID:0110649 long QT syndrome 8 IAGP D RGD:8554872 20240305 ClinVar ClinVar Annotator: match by term: Long qt syndrome 8 PMID:25741868|PMID:28492532 10044530 CV188540 NM_000719.7(CACNA1C):c.985G>A (p.Gly329Ser) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10044530 CV188540 NM_000719.7(CACNA1C):c.985G>A (p.Gly329Ser) variant DOID:9007925 Sudden Cardiac Death IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sudden cardiac death PMID:25741868|PMID:28492532 10044531 CV188541 NM_001167623.2(CACNA1C):c.1216G>A (p.Gly406Arg) variant DOID:0060173 Timothy syndrome IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Timothy syndrome PMID:15863612|PMID:18250309|PMID:19074970|PMID:22990809|PMID:25741868|PMID:26822303|PMID:28371864|PMID:28492532 10044531 CV188541 NM_001167623.2(CACNA1C):c.1216G>A (p.Gly406Arg) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:15863612|PMID:18250309|PMID:19074970|PMID:22990809|PMID:25741868|PMID:26822303|PMID:28371864|PMID:28492532 10044532 CV188542 NM_001167623.2(CACNA1C):c.1216G>C (p.Gly406Arg) variant DOID:0060173 Timothy syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Timothy syndrome PMID:15454078 10044533 CV188545 NM_000719.7(CACNA1C):c.1342G>A (p.Asp448Asn) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532|PMID:30847666 10044534 CV188550 NM_000719.7(CACNA1C):c.1485C>A (p.His495Gln) variant DOID:0060173 Timothy syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Timothy syndrome PMID:25741868|PMID:28492532|PMID:32233023 10044534 CV188550 NM_000719.7(CACNA1C):c.1485C>A (p.His495Gln) variant DOID:0070536 neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures PMID:25741868|PMID:28492532|PMID:32233023 10044534 CV188550 NM_000719.7(CACNA1C):c.1485C>A (p.His495Gln) variant DOID:0110220 Brugada syndrome 3 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Brugada syndrome 3 PMID:25741868|PMID:28492532|PMID:32233023 10044534 CV188550 NM_000719.7(CACNA1C):c.1485C>A (p.His495Gln) variant DOID:0110649 long QT syndrome 8 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Long qt syndrome 8 PMID:25741868|PMID:28492532|PMID:32233023 10044534 CV188550 NM_000719.7(CACNA1C):c.1485C>A (p.His495Gln) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532|PMID:32233023 10044534 CV188550 NM_000719.7(CACNA1C):c.1485C>A (p.His495Gln) variant DOID:384 Wolff-Parkinson-White syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:25741868|PMID:28492532|PMID:32233023 10044535 CV188552 NM_000719.7(CACNA1C):c.1487G>A (p.Arg496Gln) variant DOID:0060173 Timothy syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Timothy syndrome PMID:25741868|PMID:28492532 10044535 CV188552 NM_000719.7(CACNA1C):c.1487G>A (p.Arg496Gln) variant DOID:0110220 Brugada syndrome 3 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Brugada syndrome 3 PMID:25741868|PMID:28492532 10044535 CV188552 NM_000719.7(CACNA1C):c.1487G>A (p.Arg496Gln) variant DOID:0110649 long QT syndrome 8 IAGP D RGD:8554872 20240305 ClinVar ClinVar Annotator: match by term: Long qt syndrome 8 PMID:25741868|PMID:28492532 10044535 CV188552 NM_000719.7(CACNA1C):c.1487G>A (p.Arg496Gln) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10044536 CV188553 NM_000719.7(CACNA1C):c.1532G>A (p.Arg511Gln) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044537 CV188554 NM_000719.7(CACNA1C):c.1552C>T (p.Arg518Cys) variant DOID:0060173 Timothy syndrome IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Timothy syndrome PMID:25260352|PMID:25741868|PMID:26253506|PMID:28492532|PMID:29071820|PMID:30025578|PMID:30513141|PMID:30984024|PMID:31430211|PMID:32161207 10044537 CV188554 NM_000719.7(CACNA1C):c.1552C>T (p.Arg518Cys) variant DOID:0110649 long QT syndrome 8 IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Long qt syndrome 8 PMID:25260352|PMID:25741868|PMID:26253506|PMID:28492532|PMID:29071820|PMID:30025578|PMID:30513141|PMID:30984024|PMID:31430211|PMID:32161207 10044537 CV188554 NM_000719.7(CACNA1C):c.1552C>T (p.Arg518Cys) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25260352|PMID:25741868|PMID:26253506|PMID:28492532|PMID:29071820|PMID:30025578|PMID:30513141|PMID:30984024|PMID:31430211|PMID:32161207 10044540 CV188567 NM_000719.7(CACNA1C):c.2327A>G (p.Lys776Arg) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044541 CV188569 NM_000719.7(CACNA1C):c.2467A>G (p.Met823Val) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044542 CV188571 NM_000719.7(CACNA1C):c.2566G>A (p.Gly856Ser) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044543 CV188572 NM_000719.7(CACNA1C):c.2573G>A (p.Arg858His) variant DOID:0110649 long QT syndrome 8 IAGP D RGD:8554872 20240305 ClinVar ClinVar Annotator: match by term: Long qt syndrome 8 PMID:23174487|PMID:23575362|PMID:23631430|PMID:24728418|PMID:25741868|PMID:28492532|PMID:29016939|PMID:29046645|PMID:30345660|PMID:30530868|PMID:31729605|PMID:32161207 10044543 CV188572 NM_000719.7(CACNA1C):c.2573G>A (p.Arg858His) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23174487|PMID:23575362|PMID:23631430|PMID:24728418|PMID:25741868|PMID:28492532|PMID:29016939|PMID:29046645|PMID:30345660|PMID:30530868|PMID:31729605|PMID:32161207 10044544 CV188574 NM_000719.7(CACNA1C):c.2579G>A (p.Arg860Gln) variant DOID:0060173 Timothy syndrome IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Timothy syndrome PMID:25633834|PMID:25741868|PMID:28492532|PMID:28600387|PMID:28616568|PMID:29071820|PMID:31408100 10044544 CV188574 NM_000719.7(CACNA1C):c.2579G>A (p.Arg860Gln) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25633834|PMID:25741868|PMID:28492532|PMID:28600387|PMID:28616568|PMID:29071820|PMID:31408100 10044544 CV188574 NM_000719.7(CACNA1C):c.2579G>A (p.Arg860Gln) variant DOID:384 Wolff-Parkinson-White syndrome IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:25633834|PMID:25741868|PMID:28492532|PMID:28600387|PMID:28616568|PMID:29071820|PMID:31408100 10044546 CV188576 NM_000719.7(CACNA1C):c.2684G>A (p.Arg895His) variant DOID:0060041 autism spectrum disorder IAGP D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:28492532 10044546 CV188576 NM_000719.7(CACNA1C):c.2684G>A (p.Arg895His) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10044547 CV188577 NM_000719.7(CACNA1C):c.2795T>C (p.Ile932Thr) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044553 CV188588 NM_000719.7(CACNA1C):c.3862G>A (p.Ala1288Thr) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044554 CV188590 NM_000719.7(CACNA1C):c.3930A>T (p.Gln1310His) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044557 CV188602 NM_000719.7(CACNA1C):c.4773G>T (p.Lys1591Asn) variant DOID:0060173 Timothy syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Timothy syndrome PMID:25741868|PMID:28492532 10044557 CV188602 NM_000719.7(CACNA1C):c.4773G>T (p.Lys1591Asn) variant DOID:0110220 Brugada syndrome 3 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Brugada syndrome 3 PMID:25741868|PMID:28492532 10044557 CV188602 NM_000719.7(CACNA1C):c.4773G>T (p.Lys1591Asn) variant DOID:0110649 long QT syndrome 8 IAGP D RGD:8554872 20240305 ClinVar ClinVar Annotator: match by term: Long qt syndrome 8 PMID:25741868|PMID:28492532 10044557 CV188602 NM_000719.7(CACNA1C):c.4773G>T (p.Lys1591Asn) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10044558 CV188604 NM_000719.7(CACNA1C):c.4927C>T (p.Pro1643Ser) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044559 CV188608 NM_000719.7(CACNA1C):c.5065G>A (p.Ala1689Thr) variant DOID:0060173 Timothy syndrome IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Timothy syndrome PMID:25741868|PMID:28492532|PMID:30279520 10044559 CV188608 NM_000719.7(CACNA1C):c.5065G>A (p.Ala1689Thr) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532|PMID:30279520 10044560 CV188525 NM_000719.7(CACNA1C):c.91A>G (p.Asn31Asp) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044561 CV188526 NM_000719.7(CACNA1C):c.98A>G (p.Asn33Ser) variant DOID:0060173 Timothy syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Timothy syndrome PMID:25741868|PMID:28492532 10044561 CV188526 NM_000719.7(CACNA1C):c.98A>G (p.Asn33Ser) variant DOID:0110220 Brugada syndrome 3 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Brugada syndrome 3 PMID:25741868|PMID:28492532 10044561 CV188526 NM_000719.7(CACNA1C):c.98A>G (p.Asn33Ser) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10044562 CV188527 NM_000719.7(CACNA1C):c.101C>T (p.Ala34Val) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532|PMID:34999275 10044565 CV188532 NM_000719.7(CACNA1C):c.242G>A (p.Arg81Gln) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044566 CV188611 NM_000719.7(CACNA1C):c.5144G>A (p.Arg1715Gln) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044567 CV188613 NM_000719.7(CACNA1C):c.5198C>T (p.Ala1733Val) variant DOID:0060173 Timothy syndrome IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Timothy syndrome PMID:22584458|PMID:25633834|PMID:25741868|PMID:28492532|PMID:32145446 10044567 CV188613 NM_000719.7(CACNA1C):c.5198C>T (p.Ala1733Val) variant DOID:0110220 Brugada syndrome 3 IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Brugada syndrome 3 PMID:22584458|PMID:25633834|PMID:25741868|PMID:28492532|PMID:32145446 10044567 CV188613 NM_000719.7(CACNA1C):c.5198C>T (p.Ala1733Val) variant DOID:0110649 long QT syndrome 8 IAGP D RGD:8554872 20240305 ClinVar ClinVar Annotator: match by term: Long qt syndrome 8 PMID:22584458|PMID:25633834|PMID:25741868|PMID:28492532|PMID:32145446 10044567 CV188613 NM_000719.7(CACNA1C):c.5198C>T (p.Ala1733Val) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:22584458|PMID:25633834|PMID:25741868|PMID:28492532|PMID:32145446 10044568 CV188615 NM_000719.7(CACNA1C):c.5338C>T (p.Arg1780Cys) variant DOID:0060173 Timothy syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Timothy syndrome PMID:25741868|PMID:28492532 10044568 CV188615 NM_000719.7(CACNA1C):c.5338C>T (p.Arg1780Cys) variant DOID:0110220 Brugada syndrome 3 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Brugada syndrome 3 PMID:25741868|PMID:28492532 10044568 CV188615 NM_000719.7(CACNA1C):c.5338C>T (p.Arg1780Cys) variant DOID:0110649 long QT syndrome 8 IAGP D RGD:8554872 20240305 ClinVar ClinVar Annotator: match by term: Long qt syndrome 8 PMID:25741868|PMID:28492532 10044568 CV188615 NM_000719.7(CACNA1C):c.5338C>T (p.Arg1780Cys) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10044570 CV188538 NM_000719.7(CACNA1C):c.538G>A (p.Ala180Thr) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10044575 CV188622 NM_000719.7(CACNA1C):c.6329dup (p.Glu2111fs) variant DOID:0060173 Timothy syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Timothy syndrome PMID:24033266|PMID:25741868|PMID:28492532 10044575 CV188622 NM_000719.7(CACNA1C):c.6329dup (p.Glu2111fs) variant DOID:0110220 Brugada syndrome 3 IAGP D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Brugada syndrome 3 PMID:24033266|PMID:25741868|PMID:28492532 10044575 CV188622 NM_000719.7(CACNA1C):c.6329dup (p.Glu2111fs) variant DOID:0110649 long QT syndrome 8 IAGP D RGD:8554872 20240305 ClinVar ClinVar Annotator: match by term: Long qt syndrome 8 PMID:24033266|PMID:25741868|PMID:28492532 10044575 CV188622 NM_000719.7(CACNA1C):c.6329dup (p.Glu2111fs) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:24033266|PMID:25741868|PMID:28492532 10044577 CV188544 NM_000719.7(CACNA1C):c.1255G>A (p.Gly419Arg) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532|PMID:33191761 10044578 CV188561 NM_000719.7(CACNA1C):c.1946G>A (p.Arg649His) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044580 CV188579 NM_000719.7(CACNA1C):c.3220A>G (p.Ile1074Val) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044583 CV188524 NM_000719.7(CACNA1C):c.76G>A (p.Ala26Thr) variant DOID:0060173 Timothy syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Timothy syndrome PMID:25741868|PMID:28492532 10044583 CV188524 NM_000719.7(CACNA1C):c.76G>A (p.Ala26Thr) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10044584 CV188607 NM_000719.7(CACNA1C):c.5033A>G (p.Glu1678Gly) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044585 CV188520 NM_000719.7(CACNA1C):c.15_16del (p.Thr6fs) variant DOID:0060173 Timothy syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Timothy syndrome PMID:25741868|PMID:28492532|PMID:34495297 10044585 CV188520 NM_000719.7(CACNA1C):c.15_16del (p.Thr6fs) variant DOID:0110220 Brugada syndrome 3 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Brugada syndrome 3 PMID:25741868|PMID:28492532|PMID:34495297 10044585 CV188520 NM_000719.7(CACNA1C):c.15_16del (p.Thr6fs) variant DOID:0110649 long QT syndrome 8 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Long qt syndrome 8 PMID:25741868|PMID:28492532|PMID:34495297 10044585 CV188520 NM_000719.7(CACNA1C):c.15_16del (p.Thr6fs) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532|PMID:34495297 10044586 CV188474 NM_201596.3(CACNB2):c.209G>A (p.Arg70His) variant DOID:0110221 Brugada syndrome 4 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: CACNB2-related condition PMID:23861362 10044589 CV188488 NM_201596.3(CACNB2):c.1702G>A (p.Val568Ile) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:25650408|PMID:25741868|PMID:28492532 10044589 CV188488 NM_201596.3(CACNB2):c.1702G>A (p.Val568Ile) variant DOID:0110221 Brugada syndrome 4 IAGP D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Brugada syndrome 4 PMID:25650408|PMID:25741868|PMID:28492532 10044590 CV188492 NM_201596.3(CACNB2):c.1975C>T (p.Arg659Cys) variant DOID:0110221 Brugada syndrome 4 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: CACNB2-related condition PMID:28492532 10044593 CV188477 NM_201596.3(CACNB2):c.804+665G>A variant DOID:0050451 Brugada syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:25637381|PMID:25741868 10044593 CV188477 NM_201596.3(CACNB2):c.804+665G>A variant DOID:0110221 Brugada syndrome 4 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Brugada syndrome 4 PMID:25637381|PMID:25741868 10044595 CV188484 NM_201596.3(CACNB2):c.1553A>C (p.Glu518Ala) variant DOID:0110221 Brugada syndrome 4 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: CACNB2-related condition PMID:28492532 10044596 CV188485 NM_201596.3(CACNB2):c.1592G>A (p.Arg531His) variant DOID:0110221 Brugada syndrome 4 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Brugada syndrome 4 PMID:28492532 10044597 CV188486 NM_201596.3(CACNB2):c.1670C>T (p.Ser557Leu) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10044597 CV188486 NM_201596.3(CACNB2):c.1670C>T (p.Ser557Leu) variant DOID:0110221 Brugada syndrome 4 IAGP D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Brugada syndrome 4 PMID:25741868|PMID:28492532 10044598 CV188487 NM_201596.3(CACNB2):c.1696G>A (p.Ala566Thr) variant DOID:0110221 Brugada syndrome 4 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Brugada syndrome 4 PMID:23861362|PMID:28492532 10044600 CV188469 NM_201596.3(CACNB2):c.17del (p.Met6fs) variant DOID:0110221 Brugada syndrome 4 IAGP D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: CACNB2-related condition PMID:25741868 10044601 CV188479 NM_201596.3(CACNB2):c.1123G>A (p.Ala375Thr) variant DOID:0110221 Brugada syndrome 4 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brugada syndrome 4 PMID:28492532|PMID:30847666 10044602 CV188489 NM_201596.3(CACNB2):c.1816C>T (p.Arg606Trp) variant DOID:0110221 Brugada syndrome 4 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Brugada syndrome 4 PMID:23861362|PMID:28492532 10044603 CV188490 NM_201596.3(CACNB2):c.1841G>A (p.Arg614Gln) variant DOID:0050793 short QT syndrome IAGP D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Short QT Syndrome 5 PMID:25741868|PMID:28492532 10044603 CV188490 NM_201596.3(CACNB2):c.1841G>A (p.Arg614Gln) variant DOID:0110221 Brugada syndrome 4 IAGP D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Brugada syndrome 4 PMID:25741868|PMID:28492532 10044606 CV188314 NM_001232.4(CASQ2):c.481A>C (p.Ile161Leu) variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:25741868|PMID:28404607|PMID:28492532 10044606 CV188314 NM_001232.4(CASQ2):c.481A>C (p.Ile161Leu) variant DOID:0060676 catecholaminergic polymorphic ventricular tachycardia 2 IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 2 PMID:25741868|PMID:28404607|PMID:28492532 10044607 CV188313 NM_001232.4(CASQ2):c.503T>C (p.Ile168Thr) variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:25741868|PMID:28492532|PMID:31589614|PMID:36203036 10044607 CV188313 NM_001232.4(CASQ2):c.503T>C (p.Ile168Thr) variant DOID:0060676 catecholaminergic polymorphic ventricular tachycardia 2 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 2 PMID:25741868|PMID:28492532|PMID:31589614|PMID:36203036 10044608 CV188312 NM_001232.4(CASQ2):c.518G>T (p.Ser173Ile) variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:25741868|PMID:28492532|PMID:32693635 10044608 CV188312 NM_001232.4(CASQ2):c.518G>T (p.Ser173Ile) variant DOID:0060676 catecholaminergic polymorphic ventricular tachycardia 2 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 2 PMID:25741868|PMID:28492532|PMID:32693635 10044609 CV188311 NM_001232.4(CASQ2):c.606+1G>C variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:12386154|PMID:16199547|PMID:25741868|PMID:28492532 10044609 CV188311 NM_001232.4(CASQ2):c.606+1G>C variant DOID:0060676 catecholaminergic polymorphic ventricular tachycardia 2 IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 2 PMID:12386154|PMID:16199547|PMID:25741868|PMID:28492532 10044610 CV188310 NM_001232.4(CASQ2):c.633G>T (p.Met211Ile) variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:25741868 10044610 CV188310 NM_001232.4(CASQ2):c.633G>T (p.Met211Ile) variant DOID:0060676 catecholaminergic polymorphic ventricular tachycardia 2 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 2 PMID:25741868 10044611 CV188308 NM_001232.4(CASQ2):c.878G>C (p.Arg293Pro) variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:25741868|PMID:28492532|PMID:32693635 10044611 CV188308 NM_001232.4(CASQ2):c.878G>C (p.Arg293Pro) variant DOID:0060676 catecholaminergic polymorphic ventricular tachycardia 2 IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 2 PMID:25741868|PMID:28492532|PMID:32693635 10044612 CV188306 NM_001232.4(CASQ2):c.985C>T (p.Pro329Ser) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:23861362|PMID:25163546|PMID:25741868|PMID:28404607|PMID:28492532|PMID:30847666 10044612 CV188306 NM_001232.4(CASQ2):c.985C>T (p.Pro329Ser) variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:23861362|PMID:25163546|PMID:25741868|PMID:28404607|PMID:28492532|PMID:30847666 10044612 CV188306 NM_001232.4(CASQ2):c.985C>T (p.Pro329Ser) variant DOID:0060676 catecholaminergic polymorphic ventricular tachycardia 2 IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 2 PMID:23861362|PMID:25163546|PMID:25741868|PMID:28404607|PMID:28492532|PMID:30847666 10044613 CV188304 NM_001232.4(CASQ2):c.1082G>C (p.Trp361Ser) variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC PMID:25741868|PMID:28492532|PMID:29766881 10044613 CV188304 NM_001232.4(CASQ2):c.1082G>C (p.Trp361Ser) variant DOID:0060676 catecholaminergic polymorphic ventricular tachycardia 2 IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 2 PMID:25741868|PMID:28492532|PMID:29766881 10044617 CV188307 NM_001232.4(CASQ2):c.923C>T (p.Pro308Leu) variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:18684293|PMID:21265816|PMID:22553997|PMID:25741868|PMID:28492532|PMID:32693635 10044617 CV188307 NM_001232.4(CASQ2):c.923C>T (p.Pro308Leu) variant DOID:0060676 catecholaminergic polymorphic ventricular tachycardia 2 IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 2 PMID:18684293|PMID:21265816|PMID:22553997|PMID:25741868|PMID:28492532|PMID:32693635 10044619 CV188317 NM_001232.4(CASQ2):c.118A>G (p.Lys40Glu) variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:25741868|PMID:28492532 10044619 CV188317 NM_001232.4(CASQ2):c.118A>G (p.Lys40Glu) variant DOID:0060676 catecholaminergic polymorphic ventricular tachycardia 2 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 2 PMID:25741868|PMID:28492532 10044620 CV188305 NM_001232.4(CASQ2):c.1017dup (p.Asp340Ter) variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:23595086|PMID:28158428|PMID:28492532|PMID:29048771|PMID:30729048|PMID:32693635 10044621 CV188315 NM_001232.4(CASQ2):c.213del (p.Gln71fs) variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:25741868 10044621 CV188315 NM_001232.4(CASQ2):c.213del (p.Gln71fs) variant DOID:0060676 catecholaminergic polymorphic ventricular tachycardia 2 IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 2 PMID:25741868 10044622 CV188327 NM_015141.4(GPD1L):c.659G>A (p.Arg220His) variant DOID:0050451 Brugada syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:23861362|PMID:25741868|PMID:28492532 10044622 CV188327 NM_015141.4(GPD1L):c.659G>A (p.Arg220His) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20200407 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10044622 CV188327 NM_015141.4(GPD1L):c.659G>A (p.Arg220His) variant DOID:0110219 Brugada syndrome 2 IAGP D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: GPD1L-related condition PMID:23861362|PMID:25741868|PMID:28492532 10044622 CV188327 NM_015141.4(GPD1L):c.659G>A (p.Arg220His) variant DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:23861362|PMID:25741868|PMID:28492532 10044624 CV188328 NM_015141.4(GPD1L):c.691C>T (p.Arg231Cys) variant DOID:0050451 Brugada syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:28492532 10044624 CV188328 NM_015141.4(GPD1L):c.691C>T (p.Arg231Cys) variant DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:28492532 10044626 CV188635 NM_005477.3(HCN4):c.1703G>C (p.Ser568Thr) variant DOID:0110225 Brugada syndrome 8 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Brugada syndrome 8 PMID:25741868|PMID:28492532 10044626 CV188635 NM_005477.3(HCN4):c.1703G>C (p.Ser568Thr) variant DOID:9003749 Sick Sinus Syndrome 2, Autosomal Dominant IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Sick sinus syndrome 2, autosomal dominant PMID:25741868|PMID:28492532 10044627 CV188633 NM_005477.3(HCN4):c.2275G>A (p.Val759Ile) variant DOID:0110225 Brugada syndrome 8 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Brugada syndrome 8 PMID:21615589|PMID:23623143|PMID:23861362|PMID:24033266|PMID:25145517|PMID:25467552|PMID:25741868|PMID:26467025|PMID:28492532 10044627 CV188633 NM_005477.3(HCN4):c.2275G>A (p.Val759Ile) variant DOID:9003749 Sick Sinus Syndrome 2, Autosomal Dominant IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Sick sinus syndrome 2, autosomal dominant PMID:21615589|PMID:23623143|PMID:23861362|PMID:24033266|PMID:25145517|PMID:25467552|PMID:25741868|PMID:26467025|PMID:28492532 10044627 CV188633 NM_005477.3(HCN4):c.2275G>A (p.Val759Ile) variant DOID:9007925 Sudden Cardiac Death IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Sudden cardiac death PMID:21615589|PMID:23623143|PMID:23861362|PMID:24033266|PMID:25145517|PMID:25467552|PMID:25741868|PMID:26467025|PMID:28492532 10044628 CV188629 NM_005477.3(HCN4):c.2657C>T (p.Ala886Val) variant DOID:0110225 Brugada syndrome 8 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Brugada syndrome 8 PMID:25741868|PMID:26467025|PMID:28492532 10044628 CV188629 NM_005477.3(HCN4):c.2657C>T (p.Ala886Val) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:26467025|PMID:28492532 10044629 CV188628 NM_005477.3(HCN4):c.2800C>T (p.Arg934Cys) variant DOID:0110225 Brugada syndrome 8 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Brugada syndrome 8 PMID:25741868|PMID:26467025|PMID:27930701|PMID:28492532|PMID:30847666|PMID:30975432 10044630 CV188646 NM_005477.3(HCN4):c.88G>A (p.Glu30Lys) variant DOID:0110225 Brugada syndrome 8 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Brugada syndrome 8 PMID:28492532 10044631 CV188645 NM_005477.3(HCN4):c.196G>A (p.Glu66Lys) variant DOID:0110225 Brugada syndrome 8 IAGP D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Brugada syndrome 8 PMID:28492532 10044632 CV188639 NM_005477.3(HCN4):c.1178G>A (p.Arg393His) variant DOID:0110225 Brugada syndrome 8 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brugada syndrome 8 PMID:28104484|PMID:28492532 10044634 CV188631 NM_005477.3(HCN4):c.2522C>T (p.Ser841Leu) variant DOID:0110225 Brugada syndrome 8 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Brugada syndrome 8 PMID:22840528|PMID:23861362|PMID:26704558|PMID:28492532|PMID:28750076|PMID:30662450|PMID:30821013 10044635 CV188624 NM_005477.3(HCN4):c.3497_3500del (p.Ser1166fs) variant DOID:0110225 Brugada syndrome 8 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brugada syndrome 8 PMID:24033266|PMID:25741868|PMID:28492532 10044635 CV188624 NM_005477.3(HCN4):c.3497_3500del (p.Ser1166fs) variant DOID:9002486 Idiopathic Generalized Epilepsy 18 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 18 PMID:24033266|PMID:25741868|PMID:28492532 10044635 CV188624 NM_005477.3(HCN4):c.3497_3500del (p.Ser1166fs) variant DOID:9003749 Sick Sinus Syndrome 2, Autosomal Dominant IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Sick sinus syndrome 2, autosomal dominant PMID:24033266|PMID:25741868|PMID:28492532 10044636 CV188642 NM_005477.3(HCN4):c.520C>T (p.Pro174Ser) variant DOID:0110225 Brugada syndrome 8 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Brugada syndrome 8 PMID:25741868|PMID:28492532|PMID:28803248|PMID:29255176 10044636 CV188642 NM_005477.3(HCN4):c.520C>T (p.Pro174Ser) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532|PMID:28803248|PMID:29255176 10044636 CV188642 NM_005477.3(HCN4):c.520C>T (p.Pro174Ser) variant DOID:9002486 Idiopathic Generalized Epilepsy 18 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 18 PMID:25741868|PMID:28492532|PMID:28803248|PMID:29255176 10044636 CV188642 NM_005477.3(HCN4):c.520C>T (p.Pro174Ser) variant DOID:9003749 Sick Sinus Syndrome 2, Autosomal Dominant IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Sick sinus syndrome 2, autosomal dominant PMID:25741868|PMID:28492532|PMID:28803248|PMID:29255176 10044637 CV188641 NM_005477.3(HCN4):c.584C>T (p.Ala195Val) variant DOID:0110225 Brugada syndrome 8 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Brugada syndrome 8 PMID:23623143|PMID:23861362|PMID:28492532|PMID:30452770|PMID:31043699 10044637 CV188641 NM_005477.3(HCN4):c.584C>T (p.Ala195Val) variant DOID:9003749 Sick Sinus Syndrome 2, Autosomal Dominant IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Sick sinus syndrome 2, autosomal dominant PMID:23623143|PMID:23861362|PMID:28492532|PMID:30452770|PMID:31043699 10044638 CV188750 NM_172201.2(KCNE2):c.-13+5G>A variant DOID:0110648 long QT syndrome 6 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome 6 PMID:23631430|PMID:25741868|PMID:28492532 10044638 CV188750 NM_172201.2(KCNE2):c.-13+5G>A variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome PMID:23631430|PMID:25741868|PMID:28492532 10044638 CV188750 NM_172201.2(KCNE2):c.-13+5G>A variant DOID:9005392 Familial Atrial Fibrillation 4 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 4 PMID:23631430|PMID:25741868|PMID:28492532 10044639 CV188751 NM_172201.2(KCNE2):c.47G>A (p.Arg16Gln) variant DOID:0110648 long QT syndrome 6 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Long QT syndrome 6 PMID:28492532|PMID:28794082 10044642 CV188755 NM_172201.2(KCNE2):c.369_370del (p.Ter124IleextTer?) variant DOID:0110648 long QT syndrome 6 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome 6 PMID:19716085|PMID:23890619|PMID:25741868|PMID:28492532|PMID:28794082|PMID:29544605 10044642 CV188755 NM_172201.2(KCNE2):c.369_370del (p.Ter124IleextTer?) variant DOID:9005392 Familial Atrial Fibrillation 4 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 4 PMID:19716085|PMID:23890619|PMID:25741868|PMID:28492532|PMID:28794082|PMID:29544605 10044644 CV188517 NM_005472.5(KCNE3):c.20C>T (p.Thr7Met) variant DOID:0110223 Brugada syndrome 6 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Brugada syndrome 6 PMID:28492532 10044645 CV188516 NM_005472.5(KCNE3):c.263G>A (p.Arg88His) variant DOID:0110223 Brugada syndrome 6 IAGP D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Brugada syndrome 6 PMID:28492532 10044647 CV188666 NM_000891.3(KCNJ2):c.1229A>G (p.Asn410Ser) variant DOID:0050434 Andersen-Tawil syndrome IAGP D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features PMID:25741868|PMID:28492532 10044647 CV188666 NM_000891.3(KCNJ2):c.1229A>G (p.Asn410Ser) variant DOID:9001868 Short QT Syndrome 3 IAGP D RGD:8554872 20221227 ClinVar ClinVar Annotator: match by term: Short QT syndrome type 3 PMID:25741868|PMID:28492532 10044647 CV188666 NM_000891.3(KCNJ2):c.1229A>G (p.Asn410Ser) variant DOID:9002848 Familial Atrial Fibrillation 9 IAGP D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 9 PMID:25741868|PMID:28492532 10044649 CV188648 NM_000891.3(KCNJ2):c.118C>T (p.Arg40Ter) variant DOID:0050434 Andersen-Tawil syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Andersen Tawil syndrome PMID:21493816|PMID:22589293|PMID:28492532|PMID:33205612 10044649 CV188648 NM_000891.3(KCNJ2):c.118C>T (p.Arg40Ter) variant DOID:9001868 Short QT Syndrome 3 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Short QT syndrome type 3 PMID:21493816|PMID:22589293|PMID:28492532|PMID:33205612 10044650 CV188649 NM_000891.3(KCNJ2):c.208G>A (p.Ala70Thr) variant DOID:0050434 Andersen-Tawil syndrome IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features PMID:28492532 10044650 CV188649 NM_000891.3(KCNJ2):c.208G>A (p.Ala70Thr) variant DOID:9001868 Short QT Syndrome 3 IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Short QT syndrome type 3 PMID:28492532 10044651 CV188650 NM_000891.3(KCNJ2):c.226T>G (p.Cys76Gly) variant DOID:0050434 Andersen-Tawil syndrome IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Andersen Tawil syndrome PMID:28492532 10044652 CV188651 NM_000891.3(KCNJ2):c.236T>C (p.Ile79Thr) variant DOID:0050434 Andersen-Tawil syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features PMID:10206975|PMID:10318782|PMID:25118981|PMID:28492532|PMID:31589614 10044652 CV188651 NM_000891.3(KCNJ2):c.236T>C (p.Ile79Thr) variant DOID:9001868 Short QT Syndrome 3 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Short QT syndrome type 3 PMID:10206975|PMID:10318782|PMID:25118981|PMID:28492532|PMID:31589614 10044653 CV188652 NM_000891.3(KCNJ2):c.256G>T (p.Val86Phe) variant DOID:0050434 Andersen-Tawil syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Andersen Tawil syndrome PMID:28492532 10044655 CV188655 NM_000891.3(KCNJ2):c.566G>A (p.Arg189Lys) variant DOID:0050434 Andersen-Tawil syndrome IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Andersen Tawil syndrome PMID:12796536|PMID:27145478|PMID:28492532 10044656 CV188656 NM_000891.3(KCNJ2):c.653G>T (p.Arg218Leu) variant DOID:0050434 Andersen-Tawil syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Andersen Tawil syndrome PMID:11371347|PMID:12909315|PMID:14522976|PMID:20647529|PMID:25415519|PMID:28492532 10044658 CV188658 NM_000891.3(KCNJ2):c.896A>T (p.Glu299Val) variant DOID:9001868 Short QT Syndrome 3 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Short QT syndrome type 3 PMID:23440193 10044659 CV188659 NM_000891.3(KCNJ2):c.901A>G (p.Met301Val) variant DOID:0050434 Andersen-Tawil syndrome IAGP D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Andersen Tawil syndrome PMID:28492532 10044661 CV188664 NM_000891.3(KCNJ2):c.1045G>A (p.Glu349Lys) variant DOID:0050434 Andersen-Tawil syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Andersen Syndrome PMID:25741868|PMID:28492532|PMID:32145446 10044661 CV188664 NM_000891.3(KCNJ2):c.1045G>A (p.Glu349Lys) variant DOID:9001868 Short QT Syndrome 3 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Short QT syndrome type 3 PMID:25741868|PMID:28492532|PMID:32145446 10044661 CV188664 NM_000891.3(KCNJ2):c.1045G>A (p.Glu349Lys) variant DOID:9002848 Familial Atrial Fibrillation 9 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 9 PMID:25741868|PMID:28492532|PMID:32145446 10044662 CV188667 NM_000891.3(KCNJ2):c.1244C>T (p.Pro415Leu) variant DOID:0050434 Andersen-Tawil syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features PMID:23644778|PMID:25741868|PMID:28492532 10044662 CV188667 NM_000891.3(KCNJ2):c.1244C>T (p.Pro415Leu) variant DOID:9001868 Short QT Syndrome 3 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short QT syndrome type 3 PMID:23644778|PMID:25741868|PMID:28492532 10044662 CV188667 NM_000891.3(KCNJ2):c.1244C>T (p.Pro415Leu) variant DOID:9002848 Familial Atrial Fibrillation 9 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 9 PMID:23644778|PMID:25741868|PMID:28492532 10044663 CV188661 NM_000891.3(KCNJ2):c.935G>A (p.Arg312His) variant DOID:0050434 Andersen-Tawil syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Andersen Tawil syndrome PMID:12796536|PMID:15911703|PMID:19570891|PMID:22806368|PMID:23867365|PMID:24383070|PMID:25284084|PMID:25741868|PMID:28492532|PMID:28606196|PMID:35460302 10044664 CV188662 NM_000891.3(KCNJ2):c.973C>T (p.Arg325Cys) variant DOID:0050434 Andersen-Tawil syndrome IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features PMID:25741868|PMID:27920829|PMID:28492532|PMID:30615648|PMID:30975432|PMID:31737537|PMID:32184906 10044664 CV188662 NM_000891.3(KCNJ2):c.973C>T (p.Arg325Cys) variant DOID:9000184 Ventricular Fibrillation IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation PMID:25741868|PMID:27920829|PMID:28492532|PMID:30615648|PMID:30975432|PMID:31737537|PMID:32184906 10044664 CV188662 NM_000891.3(KCNJ2):c.973C>T (p.Arg325Cys) variant DOID:9001868 Short QT Syndrome 3 IAGP D RGD:8554872 20221227 ClinVar ClinVar Annotator: match by term: Short QT syndrome type 3 PMID:25741868|PMID:27920829|PMID:28492532|PMID:30615648|PMID:30975432|PMID:31737537|PMID:32184906 10044667 CV188509 NM_000890.5(KCNJ5):c.10G>A (p.Asp4Asn) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044668 CV188510 NM_000890.5(KCNJ5):c.133G>A (p.Glu45Lys) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10044669 CV188512 NM_000890.5(KCNJ5):c.344G>A (p.Arg115Gln) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10044670 CV188513 NM_000890.5(KCNJ5):c.634G>A (p.Asp212Asn) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044671 CV188514 NM_000890.5(KCNJ5):c.703C>T (p.Arg235Trp) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044672 CV188534 NM_004982.4(KCNJ8):c.263C>G (p.Ala88Gly) variant DOID:0050451 Brugada syndrome IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:25741868|PMID:25998140|PMID:28492532|PMID:28750076 10044672 CV188534 NM_004982.4(KCNJ8):c.263C>G (p.Ala88Gly) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:25998140|PMID:28492532|PMID:28750076 10044672 CV188534 NM_004982.4(KCNJ8):c.263C>G (p.Ala88Gly) variant DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:25741868|PMID:25998140|PMID:28492532|PMID:28750076 10044673 CV188426 NM_004387.4(NKX2-5):c.335-162G>A variant DOID:0070125 congenital nongoitrous hypothyroidism 5 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 5 PMID:25741868|PMID:28492532 10044673 CV188426 NM_004387.4(NKX2-5):c.335-162G>A variant DOID:0110112 atrial heart septal defect 7 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome PMID:25741868|PMID:28492532 10044673 CV188426 NM_004387.4(NKX2-5):c.335-162G>A variant DOID:6419 tetralogy of Fallot IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Fallot tetralogy PMID:25741868|PMID:28492532 10044673 CV188426 NM_004387.4(NKX2-5):c.335-162G>A variant DOID:9003006 Ventricular Septal Defect 3 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ventricular septal defect 3 PMID:25741868|PMID:28492532 10044673 CV188426 NM_004387.4(NKX2-5):c.335-162G>A variant DOID:9005839 Hypoplastic Left Heart Syndrome 2 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypoplastic left heart syndrome 2 PMID:25741868|PMID:28492532 10044673 CV188426 NM_004387.4(NKX2-5):c.335-162G>A variant DOID:9006886 Atrial Septal Defect with Atrioventricular Conduction Defects IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects PMID:25741868|PMID:28492532 10044673 CV188426 NM_004387.4(NKX2-5):c.335-162G>A variant DOID:9007617 Conotruncal Cardiac Defects IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Conotruncal cardiac defects PMID:25741868|PMID:28492532 10044674 CV188423 NM_004387.4(NKX2-5):c.566G>C (p.Arg189Pro) variant DOID:0110112 atrial heart septal defect 7 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Atrial septal defect 7 with or without atrioventricular conduction defects PMID:28492532 10044674 CV188423 NM_004387.4(NKX2-5):c.566G>C (p.Arg189Pro) variant DOID:9006886 Atrial Septal Defect with Atrioventricular Conduction Defects IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects PMID:28492532 10044675 CV188421 NM_004387.4(NKX2-5):c.632C>T (p.Pro211Leu) variant DOID:0110112 atrial heart septal defect 7 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome PMID:12112663|PMID:25741868|PMID:26334177|PMID:28492532 10044675 CV188421 NM_004387.4(NKX2-5):c.632C>T (p.Pro211Leu) variant DOID:9006886 Atrial Septal Defect with Atrioventricular Conduction Defects IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects PMID:12112663|PMID:25741868|PMID:26334177|PMID:28492532 10044676 CV188427 NM_004387.4(NKX2-5):c.124G>C (p.Ala42Pro) variant DOID:0110112 atrial heart septal defect 7 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome PMID:19073351|PMID:25741868|PMID:27788187|PMID:28492532 10044676 CV188427 NM_004387.4(NKX2-5):c.124G>C (p.Ala42Pro) variant DOID:9006886 Atrial Septal Defect with Atrioventricular Conduction Defects IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects PMID:19073351|PMID:25741868|PMID:27788187|PMID:28492532 10044679 CV188428 NM_004387.4(NKX2-5):c.65A>G (p.Gln22Arg) variant DOID:0110112 atrial heart septal defect 7 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Atrial septal defect 7 with or without atrioventricular conduction defects PMID:14607454|PMID:18414213|PMID:19181906|PMID:22179962|PMID:25741868|PMID:28492532|PMID:31824610|PMID:33835496|PMID:38259611 10044679 CV188428 NM_004387.4(NKX2-5):c.65A>G (p.Gln22Arg) variant DOID:9002682 Cardiovascular Abnormalities IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology PMID:14607454|PMID:18414213|PMID:19181906|PMID:22179962|PMID:25741868|PMID:28492532|PMID:31824610|PMID:33835496|PMID:38259611 10044679 CV188428 NM_004387.4(NKX2-5):c.65A>G (p.Gln22Arg) variant DOID:9006886 Atrial Septal Defect with Atrioventricular Conduction Defects IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects PMID:14607454|PMID:18414213|PMID:19181906|PMID:22179962|PMID:25741868|PMID:28492532|PMID:31824610|PMID:33835496|PMID:38259611 10044680 CV188668 NM_016492.5(RANGRF):c.52C>T (p.Leu18Phe) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868|PMID:28492532 10044681 CV188672 NM_016492.5(RANGRF):c.364G>A (p.Val122Met) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:28492532 10044683 CV188670 NM_016492.5(RANGRF):c.181G>T (p.Glu61Ter) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868|PMID:28492532|PMID:30821013 10044684 CV188693 NM_001037.5(SCN1B):c.448+193G>A variant DOID:0080455 developmental and epileptic encephalopathy 52 IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 52 PMID:21994374|PMID:22155597|PMID:22155598|PMID:22284586|PMID:22840528|PMID:23414114|PMID:23465283|PMID:23861362|PMID:24033266|PMID:25253298|PMID:25741868|PMID:26498160|PMID:27435932|PMID:27896052|PMID:28341588|PMID:28492532|PMID:28837624|PMID:29758173 10044684 CV188693 NM_001037.5(SCN1B):c.448+193G>A variant DOID:0110222 Brugada syndrome 5 IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:21994374|PMID:22155597|PMID:22155598|PMID:22284586|PMID:22840528|PMID:23414114|PMID:23465283|PMID:23861362|PMID:24033266|PMID:25253298|PMID:25741868|PMID:26498160|PMID:27435932|PMID:27896052|PMID:28341588|PMID:28492532|PMID:28837624|PMID:29758173 10044684 CV188693 NM_001037.5(SCN1B):c.448+193G>A variant DOID:0111302 generalized epilepsy with febrile seizures plus 1 IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 1 PMID:21994374|PMID:22155597|PMID:22155598|PMID:22284586|PMID:22840528|PMID:23414114|PMID:23465283|PMID:23861362|PMID:24033266|PMID:25253298|PMID:25741868|PMID:26498160|PMID:27435932|PMID:27896052|PMID:28341588|PMID:28492532|PMID:28837624|PMID:29758173 10044684 CV188693 NM_001037.5(SCN1B):c.448+193G>A variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:21994374|PMID:22155597|PMID:22155598|PMID:22284586|PMID:22840528|PMID:23414114|PMID:23465283|PMID:23861362|PMID:24033266|PMID:25253298|PMID:25741868|PMID:26498160|PMID:27435932|PMID:27896052|PMID:28341588|PMID:28492532|PMID:28837624|PMID:29758173 10044684 CV188693 NM_001037.5(SCN1B):c.448+193G>A variant DOID:9002996 Familial Atrial Fibrillation 13 IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 13 PMID:21994374|PMID:22155597|PMID:22155598|PMID:22284586|PMID:22840528|PMID:23414114|PMID:23465283|PMID:23861362|PMID:24033266|PMID:25253298|PMID:25741868|PMID:26498160|PMID:27435932|PMID:27896052|PMID:28341588|PMID:28492532|PMID:28837624|PMID:29758173 10044685 CV188695 NM_001037.5(SCN1B):c.448+295G>T variant DOID:0110222 Brugada syndrome 5 IAGP D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 10044686 CV188696 NM_001037.5(SCN1B):c.448+321G>A variant DOID:0080455 developmental and epileptic encephalopathy 52 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 52 PMID:21994374|PMID:23182416|PMID:25741868|PMID:28492532 10044686 CV188696 NM_001037.5(SCN1B):c.448+321G>A variant DOID:0110222 Brugada syndrome 5 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:21994374|PMID:23182416|PMID:25741868|PMID:28492532 10044686 CV188696 NM_001037.5(SCN1B):c.448+321G>A variant DOID:0111302 generalized epilepsy with febrile seizures plus 1 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 1 PMID:21994374|PMID:23182416|PMID:25741868|PMID:28492532 10044686 CV188696 NM_001037.5(SCN1B):c.448+321G>A variant DOID:9002996 Familial Atrial Fibrillation 13 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 13 PMID:21994374|PMID:23182416|PMID:25741868|PMID:28492532 10044687 CV188699 NM_001037.5(SCN1B):c.449-9C>A variant DOID:0110222 Brugada syndrome 5 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 10044688 CV188709 NM_001037.5(SCN1B):c.640G>A (p.Val214Ile) variant DOID:0110222 Brugada syndrome 5 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 10044689 CV188681 NM_001037.5(SCN1B):c.121A>G (p.Ile41Val) variant DOID:0110222 Brugada syndrome 5 IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 10044690 CV188682 NM_001037.5(SCN1B):c.134G>A (p.Arg45His) variant DOID:0080455 developmental and epileptic encephalopathy 52 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 52 PMID:25741868|PMID:28492532 10044690 CV188682 NM_001037.5(SCN1B):c.134G>A (p.Arg45His) variant DOID:0110222 Brugada syndrome 5 IAGP D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:25741868|PMID:28492532 10044690 CV188682 NM_001037.5(SCN1B):c.134G>A (p.Arg45His) variant DOID:0111302 generalized epilepsy with febrile seizures plus 1 IAGP D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 1 PMID:25741868|PMID:28492532 10044690 CV188682 NM_001037.5(SCN1B):c.134G>A (p.Arg45His) variant DOID:9002996 Familial Atrial Fibrillation 13 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 13 PMID:25741868|PMID:28492532 10044691 CV188684 NM_001037.5(SCN1B):c.253C>T (p.Arg85Cys) variant DOID:0080455 developmental and epileptic encephalopathy 52 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 52 PMID:17020904|PMID:17604911|PMID:17629415|PMID:19808477|PMID:25741868|PMID:28492532|PMID:28717674|PMID:31709768|PMID:32369273 10044691 CV188684 NM_001037.5(SCN1B):c.253C>T (p.Arg85Cys) variant DOID:0110222 Brugada syndrome 5 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:17020904|PMID:17604911|PMID:17629415|PMID:19808477|PMID:25741868|PMID:28492532|PMID:28717674|PMID:31709768|PMID:32369273 10044691 CV188684 NM_001037.5(SCN1B):c.253C>T (p.Arg85Cys) variant DOID:0111302 generalized epilepsy with febrile seizures plus 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 1 PMID:17020904|PMID:17604911|PMID:17629415|PMID:19808477|PMID:25741868|PMID:28492532|PMID:28717674|PMID:31709768|PMID:32369273 10044692 CV188685 NM_001037.5(SCN1B):c.266G>A (p.Arg89His) variant DOID:0080455 developmental and epileptic encephalopathy 52 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 52 PMID:25741868|PMID:28341588|PMID:28492532 10044692 CV188685 NM_001037.5(SCN1B):c.266G>A (p.Arg89His) variant DOID:0110222 Brugada syndrome 5 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:25741868|PMID:28341588|PMID:28492532 10044692 CV188685 NM_001037.5(SCN1B):c.266G>A (p.Arg89His) variant DOID:0111302 generalized epilepsy with febrile seizures plus 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 1 PMID:25741868|PMID:28341588|PMID:28492532 10044692 CV188685 NM_001037.5(SCN1B):c.266G>A (p.Arg89His) variant DOID:9002996 Familial Atrial Fibrillation 13 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 13 PMID:25741868|PMID:28341588|PMID:28492532 10044694 CV188674 NM_001037.5(SCN1B):c.22G>C (p.Val8Leu) variant DOID:0110222 Brugada syndrome 5 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 10044695 CV188675 NM_001037.5(SCN1B):c.23T>C (p.Val8Ala) variant DOID:0110222 Brugada syndrome 5 IAGP D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 10044696 CV188676 NM_001037.5(SCN1B):c.28G>A (p.Gly10Ser) variant DOID:0110222 Brugada syndrome 5 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:20226894|PMID:20662403|PMID:24662403|PMID:26467025|PMID:28492532 10044696 CV188676 NM_001037.5(SCN1B):c.28G>A (p.Gly10Ser) variant DOID:0111302 generalized epilepsy with febrile seizures plus 1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 1 PMID:20226894|PMID:20662403|PMID:24662403|PMID:26467025|PMID:28492532 10044697 CV188677 NM_001037.5(SCN1B):c.38T>C (p.Leu13Pro) variant DOID:0080455 developmental and epileptic encephalopathy 52 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 52 PMID:25741868|PMID:26467025|PMID:28492532 10044697 CV188677 NM_001037.5(SCN1B):c.38T>C (p.Leu13Pro) variant DOID:0110222 Brugada syndrome 5 IAGP D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:25741868|PMID:26467025|PMID:28492532 10044697 CV188677 NM_001037.5(SCN1B):c.38T>C (p.Leu13Pro) variant DOID:0111302 generalized epilepsy with febrile seizures plus 1 IAGP D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 1 PMID:25741868|PMID:26467025|PMID:28492532 10044697 CV188677 NM_001037.5(SCN1B):c.38T>C (p.Leu13Pro) variant DOID:9002996 Familial Atrial Fibrillation 13 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 13 PMID:25741868|PMID:26467025|PMID:28492532 10044699 CV188701 NM_001037.5(SCN1B):c.472G>A (p.Val158Met) variant DOID:0110222 Brugada syndrome 5 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532|PMID:33901312 10044700 CV188704 NM_001037.5(SCN1B):c.590C>T (p.Ala197Val) variant DOID:0080455 developmental and epileptic encephalopathy 52 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 52 PMID:25741868|PMID:28492532|PMID:29758173|PMID:32192759 10044700 CV188704 NM_001037.5(SCN1B):c.590C>T (p.Ala197Val) variant DOID:0110222 Brugada syndrome 5 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:25741868|PMID:28492532|PMID:29758173|PMID:32192759 10044700 CV188704 NM_001037.5(SCN1B):c.590C>T (p.Ala197Val) variant DOID:0111302 generalized epilepsy with febrile seizures plus 1 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 1 PMID:25741868|PMID:28492532|PMID:29758173|PMID:32192759 10044700 CV188704 NM_001037.5(SCN1B):c.590C>T (p.Ala197Val) variant DOID:9002996 Familial Atrial Fibrillation 13 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 13 PMID:25741868|PMID:28492532|PMID:29758173|PMID:32192759 10044702 CV188707 NM_001037.5(SCN1B):c.632G>A (p.Cys211Tyr) variant DOID:0080455 developmental and epileptic encephalopathy 52 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 52 PMID:19522081|PMID:25253298|PMID:25741868|PMID:26467025|PMID:27207958|PMID:28492532 10044702 CV188707 NM_001037.5(SCN1B):c.632G>A (p.Cys211Tyr) variant DOID:0110222 Brugada syndrome 5 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:19522081|PMID:25253298|PMID:25741868|PMID:26467025|PMID:27207958|PMID:28492532 10044703 CV188708 NM_001037.5(SCN1B):c.638G>A (p.Gly213Asp) variant DOID:0110222 Brugada syndrome 5 IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:19522081|PMID:25998140|PMID:28492532|PMID:34034907 10044704 CV188678 NM_001037.5(SCN1B):c.73G>A (p.Asp25Asn) variant DOID:0110222 Brugada syndrome 5 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:19522081|PMID:28492532|PMID:29655203|PMID:29992740 10044705 CV188679 NM_001037.5(SCN1B):c.82A>G (p.Thr28Ala) variant DOID:0080455 developmental and epileptic encephalopathy 52 IAGP D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 52 PMID:21703448|PMID:25741868|PMID:28492532|PMID:29655203 10044705 CV188679 NM_001037.5(SCN1B):c.82A>G (p.Thr28Ala) variant DOID:0110222 Brugada syndrome 5 IAGP D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:21703448|PMID:25741868|PMID:28492532|PMID:29655203 10044705 CV188679 NM_001037.5(SCN1B):c.82A>G (p.Thr28Ala) variant DOID:0111302 generalized epilepsy with febrile seizures plus 1 IAGP D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 1 PMID:21703448|PMID:25741868|PMID:28492532|PMID:29655203 10044705 CV188679 NM_001037.5(SCN1B):c.82A>G (p.Thr28Ala) variant DOID:9002996 Familial Atrial Fibrillation 13 IAGP D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 13 PMID:21703448|PMID:25741868|PMID:28492532|PMID:29655203 10044706 CV188503 NM_001040151.2(SCN3B):c.629C>T (p.Ala210Val) variant DOID:0110224 Brugada syndrome 7 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brugada syndrome 7 PMID:28492532 10044707 CV188506 NM_001040151.2(SCN3B):c.328G>A (p.Val110Ile) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:23257389|PMID:23861362|PMID:24033266|PMID:25741868|PMID:27435932|PMID:27711072|PMID:27784853|PMID:28492532|PMID:30662450|PMID:34219138 10044707 CV188506 NM_001040151.2(SCN3B):c.328G>A (p.Val110Ile) variant DOID:0110224 Brugada syndrome 7 IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: SCN3B-related condition PMID:23257389|PMID:23861362|PMID:24033266|PMID:25741868|PMID:27435932|PMID:27711072|PMID:27784853|PMID:28492532|PMID:30662450|PMID:34219138 10044707 CV188506 NM_001040151.2(SCN3B):c.328G>A (p.Val110Ile) variant DOID:9006030 Infant Death IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Death in infancy PMID:23257389|PMID:23861362|PMID:24033266|PMID:25741868|PMID:27435932|PMID:27711072|PMID:27784853|PMID:28492532|PMID:30662450|PMID:34219138 10044708 CV188501 NM_174934.4(SCN4B):c.18C>A (p.Asp6Glu) variant DOID:0110651 long QT syndrome 10 IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:25741868|PMID:28492532 10044709 CV188500 NM_174934.4(SCN4B):c.22G>A (p.Gly8Ser) variant DOID:0110651 long QT syndrome 10 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:23861362|PMID:28492532 10044710 CV188498 NM_174934.4(SCN4B):c.194A>T (p.His65Leu) variant DOID:0110651 long QT syndrome 10 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:23861362|PMID:28492532 10044711 CV188493 NM_174934.4(SCN4B):c.632C>G (p.Thr211Arg) variant DOID:0110651 long QT syndrome 10 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:25741868|PMID:28492532|PMID:28837624|PMID:30821358|PMID:30847666 10044714 CV188744 NM_003098.3(SNTA1):c.128G>A (p.Ser43Asn) variant DOID:0110644 long QT syndrome 1 IAGP D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:25741868|PMID:28492532|PMID:30847666 10044714 CV188744 NM_003098.3(SNTA1):c.128G>A (p.Ser43Asn) variant DOID:0110653 long QT syndrome 12 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome 12 PMID:25741868|PMID:28492532|PMID:30847666 10044714 CV188744 NM_003098.3(SNTA1):c.128G>A (p.Ser43Asn) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532|PMID:30847666 10044714 CV188744 NM_003098.3(SNTA1):c.128G>A (p.Ser43Asn) variant DOID:9004730 Romano-Ward Syndrome IAGP D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome PMID:25741868|PMID:28492532|PMID:30847666 10044715 CV188742 NM_003098.3(SNTA1):c.250C>T (p.Gln84Ter) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044717 CV188740 NM_003098.3(SNTA1):c.280G>C (p.Asp94His) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044719 CV188729 NM_003098.3(SNTA1):c.677G>A (p.Cys226Tyr) variant DOID:0110653 long QT syndrome 12 IAGP D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: SNTA1-related condition PMID:28492532 10044719 CV188729 NM_003098.3(SNTA1):c.677G>A (p.Cys226Tyr) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044720 CV188726 NM_003098.3(SNTA1):c.787G>T (p.Ala263Ser) variant DOID:0110644 long QT syndrome 1 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:23861362|PMID:25741868|PMID:28492532|PMID:28837624|PMID:32893267 10044720 CV188726 NM_003098.3(SNTA1):c.787G>T (p.Ala263Ser) variant DOID:0110653 long QT syndrome 12 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Long QT syndrome 12 PMID:23861362|PMID:25741868|PMID:28492532|PMID:28837624|PMID:32893267 10044720 CV188726 NM_003098.3(SNTA1):c.787G>T (p.Ala263Ser) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25741868|PMID:28492532|PMID:28837624|PMID:32893267 10044720 CV188726 NM_003098.3(SNTA1):c.787G>T (p.Ala263Ser) variant DOID:9004730 Romano-Ward Syndrome IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome PMID:23861362|PMID:25741868|PMID:28492532|PMID:28837624|PMID:32893267 10044721 CV188723 NM_003098.3(SNTA1):c.992G>A (p.Arg331His) variant DOID:0110653 long QT syndrome 12 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome 12 PMID:25741868|PMID:28492532 10044721 CV188723 NM_003098.3(SNTA1):c.992G>A (p.Arg331His) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10044722 CV188722 NM_003098.3(SNTA1):c.1088A>C (p.Glu363Ala) variant DOID:0110653 long QT syndrome 12 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Long QT syndrome 12 PMID:23631430|PMID:28492532 10044722 CV188722 NM_003098.3(SNTA1):c.1088A>C (p.Glu363Ala) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23631430|PMID:28492532 10044722 CV188722 NM_003098.3(SNTA1):c.1088A>C (p.Glu363Ala) variant DOID:384 Wolff-Parkinson-White syndrome IAGP D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:23631430|PMID:28492532 10044723 CV188717 NM_003098.3(SNTA1):c.1244C>T (p.Thr415Met) variant DOID:0110653 long QT syndrome 12 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome 12 PMID:25741868|PMID:28492532 10044723 CV188717 NM_003098.3(SNTA1):c.1244C>T (p.Thr415Met) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10044724 CV188715 NM_003098.3(SNTA1):c.1279A>G (p.Ile427Val) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044725 CV188713 NM_003098.3(SNTA1):c.1324C>T (p.Arg442Ter) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044726 CV188711 NM_003098.3(SNTA1):c.1484C>T (p.Ser495Leu) variant DOID:0110653 long QT syndrome 12 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome 12 PMID:25741868|PMID:26220970|PMID:28492532 10044726 CV188711 NM_003098.3(SNTA1):c.1484C>T (p.Ser495Leu) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:26220970|PMID:28492532 10044728 CV188736 NM_003098.3(SNTA1):c.388T>C (p.Phe130Leu) variant DOID:13884 sick sinus syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Sick sinus syndrome PMID:25741868|PMID:28492532 10044728 CV188736 NM_003098.3(SNTA1):c.388T>C (p.Phe130Leu) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10044729 CV188734 NM_003098.3(SNTA1):c.440C>A (p.Thr147Asn) variant DOID:0110644 long QT syndrome 1 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 PMID:22584458|PMID:23834499|PMID:23861362|PMID:24014171|PMID:28492532 10044729 CV188734 NM_003098.3(SNTA1):c.440C>A (p.Thr147Asn) variant DOID:0110653 long QT syndrome 12 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Long QT syndrome 12 PMID:22584458|PMID:23834499|PMID:23861362|PMID:24014171|PMID:28492532 10044729 CV188734 NM_003098.3(SNTA1):c.440C>A (p.Thr147Asn) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:22584458|PMID:23834499|PMID:23861362|PMID:24014171|PMID:28492532 10044731 CV188746 NM_003098.3(SNTA1):c.40G>A (p.Glu14Lys) variant DOID:0110653 long QT syndrome 12 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Long QT syndrome 12 PMID:25741868|PMID:28492532|PMID:34546463 10044731 CV188746 NM_003098.3(SNTA1):c.40G>A (p.Glu14Lys) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532|PMID:34546463 10044732 CV188745 NM_003098.3(SNTA1):c.70G>A (p.Gly24Ser) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044733 CV188743 NM_003098.3(SNTA1):c.160G>C (p.Gly54Arg) variant DOID:0110653 long QT syndrome 12 IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Long QT syndrome 12 PMID:20009079|PMID:25741868|PMID:28492532|PMID:30471092|PMID:34546463 10044733 CV188743 NM_003098.3(SNTA1):c.160G>C (p.Gly54Arg) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:20009079|PMID:25741868|PMID:28492532|PMID:30471092|PMID:34546463 10044734 CV188732 NM_003098.3(SNTA1):c.556G>A (p.Gly186Ser) variant DOID:0110653 long QT syndrome 12 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome 12 PMID:25741868|PMID:28492532 10044734 CV188732 NM_003098.3(SNTA1):c.556G>A (p.Gly186Ser) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10044737 CV188761 NM_001605.3(AARS1):c.2677G>A (p.Asp893Asn) variant DOID:0110177 Charcot-Marie-Tooth disease axonal type 2N IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2N PMID:21208200|PMID:22573628 10044738 CV172295 NM_024740.2(ALG9):c.1173+2T>A variant DOID:9001306 Gillessen-Kaesbach-Nishimura Dysplasia IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Gillessen-Kaesbach-Nishimura syndrome PMID:25741868|PMID:25966638 10044739 CV187937 NM_001605.3(AARS1):c.242A>C (p.Lys81Thr) variant DOID:0080451 developmental and epileptic encephalopathy 29 IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 29 PMID:21494555|PMID:25817015 10044739 CV187937 NM_001605.3(AARS1):c.242A>C (p.Lys81Thr) variant DOID:0110177 Charcot-Marie-Tooth disease axonal type 2N IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2N PMID:21494555|PMID:25817015 10044741 CV187940 NM_173354.5(SIK1):c.859C>A (p.Pro287Thr) variant DOID:0080465 developmental and epileptic encephalopathy 30 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30 PMID:25839329 10044742 CV187941 NM_173354.5(SIK1):c.1039G>T (p.Glu347Ter) variant DOID:0080465 developmental and epileptic encephalopathy 30 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30 PMID:25839329 10044743 CV187942 NM_173354.5(SIK1):c.1840C>T (p.Gln614Ter) variant DOID:0080465 developmental and epileptic encephalopathy 30 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30 PMID:25839329 10044744 CV187943 NM_173354.5(SIK1):c.1897C>T (p.Gln633Ter) variant DOID:0080465 developmental and epileptic encephalopathy 30 IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 PMID:25839329|PMID:27966542|PMID:28492532 10044745 CV187944 NM_173354.5(SIK1):c.1906G>A (p.Gly636Ser) variant DOID:0080465 developmental and epileptic encephalopathy 30 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30 PMID:25839329 10044746 CV187949 NM_004935.4(CDK5):c.580+1G>A variant DOID:0112231 lissencephaly 7 with cerebellar hypoplasia IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Lissencephaly 7 with cerebellar hypoplasia PMID:25560765 10044747 CV187951 NM_002143.3(HPCA):c.212C>A (p.Thr71Asn) variant DOID:0090038 torsion dystonia 2 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dystonia 2, torsion, autosomal recessive PMID:25799108 10044748 CV187953 NM_004958.4(MTOR):c.4448G>T (p.Cys1483Phe) variant DOID:9004356 Smith-Kingsmore Syndrome IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome PMID:25741868 10044749 CV187972 NM_016955.4(SEPSECS):c.1466A>T (p.Asp489Val) variant DOID:0060264 pontocerebellar hypoplasia IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia PMID:25044680|PMID:25741868 10044749 CV187972 NM_016955.4(SEPSECS):c.1466A>T (p.Asp489Val) variant DOID:0060266 pontocerebellar hypoplasia type 1B IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia PMID:25044680|PMID:25741868 10044749 CV187972 NM_016955.4(SEPSECS):c.1466A>T (p.Asp489Val) variant DOID:0060270 pontocerebellar hypoplasia type 2D IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 2D PMID:25044680|PMID:25741868 10044750 CV188011 NM_000124.4(ERCC6):c.1280dup (p.Ser429fs) variant DOID:0080908 Cockayne syndrome B IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cockayne syndrome B PMID:18414213|PMID:18628313|PMID:28492532|PMID:29572252|PMID:9443879 10044751 CV188005 NM_000124.4(ERCC6):c.1850dup (p.Cys617fs) variant DOID:0080908 Cockayne syndrome B IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Cockayne syndrome, type B PMID:18414213 10044752 CV188010 NM_000124.4(ERCC6):c.1518del (p.Lys506fs) variant DOID:0080868 primary ovarian insufficiency 11 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 11 PMID:18414213|PMID:18628313|PMID:25326635|PMID:25741868|PMID:28492532|PMID:29572252|PMID:9443879 10044752 CV188010 NM_000124.4(ERCC6):c.1518del (p.Lys506fs) variant DOID:0080908 Cockayne syndrome B IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cockayne syndrome B PMID:18414213|PMID:18628313|PMID:25326635|PMID:25741868|PMID:28492532|PMID:29572252|PMID:9443879 10044752 CV188010 NM_000124.4(ERCC6):c.1518del (p.Lys506fs) variant DOID:0080911 cerebrooculofacioskeletal syndrome 1 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 1 PMID:18414213|PMID:18628313|PMID:25326635|PMID:25741868|PMID:28492532|PMID:29572252|PMID:9443879 10044752 CV188010 NM_000124.4(ERCC6):c.1518del (p.Lys506fs) variant DOID:0110028 age related macular degeneration 5 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Age related macular degeneration 5 PMID:18414213|PMID:18628313|PMID:25326635|PMID:25741868|PMID:28492532|PMID:29572252|PMID:9443879 10044752 CV188010 NM_000124.4(ERCC6):c.1518del (p.Lys506fs) variant DOID:0112158 De Sanctis-Cacchione syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: DE SANCTIS-CACCHIONE SYNDROME PMID:18414213|PMID:18628313|PMID:25326635|PMID:25741868|PMID:28492532|PMID:29572252|PMID:9443879 10044752 CV188010 NM_000124.4(ERCC6):c.1518del (p.Lys506fs) variant DOID:1324 lung cancer IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Lung cancer, somatic PMID:18414213|PMID:18628313|PMID:25326635|PMID:25741868|PMID:28492532|PMID:29572252|PMID:9443879 10044752 CV188010 NM_000124.4(ERCC6):c.1518del (p.Lys506fs) variant DOID:9006274 UV-Sensitive Syndrome 1 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: UV-sensitive syndrome 1 PMID:18414213|PMID:18628313|PMID:25326635|PMID:25741868|PMID:28492532|PMID:29572252|PMID:9443879 10044753 CV188004 NM_000124.4(ERCC6):c.1954C>T (p.Arg652Ter) variant DOID:0080908 Cockayne syndrome B IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cockayne syndrome B PMID:18414213|PMID:18628313|PMID:19894250|PMID:28492532|PMID:29572252 10044753 CV188004 NM_000124.4(ERCC6):c.1954C>T (p.Arg652Ter) variant DOID:0080911 cerebrooculofacioskeletal syndrome 1 IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: CEREBROOCULOFACIOSKELETAL SYNDROME 1 PMID:18414213|PMID:18628313|PMID:19894250|PMID:28492532|PMID:29572252 10044753 CV188004 NM_000124.4(ERCC6):c.1954C>T (p.Arg652Ter) variant DOID:0112158 De Sanctis-Cacchione syndrome IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: DE SANCTIS-CACCHIONE SYNDROME PMID:18414213|PMID:18628313|PMID:19894250|PMID:28492532|PMID:29572252 10044753 CV188004 NM_000124.4(ERCC6):c.1954C>T (p.Arg652Ter) variant DOID:2962 Cockayne syndrome IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Progeroid nanism PMID:18414213|PMID:18628313|PMID:19894250|PMID:28492532|PMID:29572252 10044754 CV188002 NM_000124.4(ERCC6):c.1999del (p.Thr667fs) variant DOID:0080908 Cockayne syndrome B IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Cockayne syndrome, type B PMID:18414213 10044755 CV188000 NM_000124.4(ERCC6):c.2096dup (p.Leu700fs) variant DOID:0080908 Cockayne syndrome B IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Cockayne syndrome B PMID:18414213|PMID:18628313|PMID:25741868|PMID:28170084|PMID:28492532|PMID:29572252 10044755 CV188000 NM_000124.4(ERCC6):c.2096dup (p.Leu700fs) variant DOID:0080911 cerebrooculofacioskeletal syndrome 1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: CEREBROOCULOFACIOSKELETAL SYNDROME 1 PMID:18414213|PMID:18628313|PMID:25741868|PMID:28170084|PMID:28492532|PMID:29572252 10044755 CV188000 NM_000124.4(ERCC6):c.2096dup (p.Leu700fs) variant DOID:0112158 De Sanctis-Cacchione syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: DE SANCTIS-CACCHIONE SYNDROME PMID:18414213|PMID:18628313|PMID:25741868|PMID:28170084|PMID:28492532|PMID:29572252 10044756 CV187993 NM_000124.4(ERCC6):c.3412dup (p.Thr1138fs) variant DOID:0080908 Cockayne syndrome B IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cockayne syndrome B PMID:18414213|PMID:18628313|PMID:28492532|PMID:29572252 10044756 CV187993 NM_000124.4(ERCC6):c.3412dup (p.Thr1138fs) variant DOID:0080911 cerebrooculofacioskeletal syndrome 1 IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: CEREBROOCULOFACIOSKELETAL SYNDROME 1 PMID:18414213|PMID:18628313|PMID:28492532|PMID:29572252 10044756 CV187993 NM_000124.4(ERCC6):c.3412dup (p.Thr1138fs) variant DOID:0112158 De Sanctis-Cacchione syndrome IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: DE SANCTIS-CACCHIONE SYNDROME PMID:18414213|PMID:18628313|PMID:28492532|PMID:29572252 10044757 CV187992 NM_000124.4(ERCC6):c.3536del (p.Tyr1179fs) variant DOID:0080868 primary ovarian insufficiency 11 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 11 PMID:18414213|PMID:18628313|PMID:19894250|PMID:21228398|PMID:25741868|PMID:28492532|PMID:29572252|PMID:9443879 10044757 CV187992 NM_000124.4(ERCC6):c.3536del (p.Tyr1179fs) variant DOID:0080908 Cockayne syndrome B IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cockayne syndrome B PMID:18414213|PMID:18628313|PMID:19894250|PMID:21228398|PMID:25741868|PMID:28492532|PMID:29572252|PMID:9443879 10044757 CV187992 NM_000124.4(ERCC6):c.3536del (p.Tyr1179fs) variant DOID:0080911 cerebrooculofacioskeletal syndrome 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CEREBROOCULOFACIOSKELETAL SYNDROME 1 PMID:18414213|PMID:18628313|PMID:19894250|PMID:21228398|PMID:25741868|PMID:28492532|PMID:29572252|PMID:9443879 10044757 CV187992 NM_000124.4(ERCC6):c.3536del (p.Tyr1179fs) variant DOID:0110028 age related macular degeneration 5 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Age related macular degeneration 5 PMID:18414213|PMID:18628313|PMID:19894250|PMID:21228398|PMID:25741868|PMID:28492532|PMID:29572252|PMID:9443879 10044757 CV187992 NM_000124.4(ERCC6):c.3536del (p.Tyr1179fs) variant DOID:0112158 De Sanctis-Cacchione syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: DE SANCTIS-CACCHIONE SYNDROME PMID:18414213|PMID:18628313|PMID:19894250|PMID:21228398|PMID:25741868|PMID:28492532|PMID:29572252|PMID:9443879 10044757 CV187992 NM_000124.4(ERCC6):c.3536del (p.Tyr1179fs) variant DOID:1324 lung cancer IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Lung cancer, somatic PMID:18414213|PMID:18628313|PMID:19894250|PMID:21228398|PMID:25741868|PMID:28492532|PMID:29572252|PMID:9443879 10044757 CV187992 NM_000124.4(ERCC6):c.3536del (p.Tyr1179fs) variant DOID:2962 Cockayne syndrome IAGP D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Progeroid nanism PMID:18414213|PMID:18628313|PMID:19894250|PMID:21228398|PMID:25741868|PMID:28492532|PMID:29572252|PMID:9443879 10044757 CV187992 NM_000124.4(ERCC6):c.3536del (p.Tyr1179fs) variant DOID:9006274 UV-Sensitive Syndrome 1 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: UV-sensitive syndrome 1 PMID:18414213|PMID:18628313|PMID:19894250|PMID:21228398|PMID:25741868|PMID:28492532|PMID:29572252|PMID:9443879 10044758 CV187991 NM_000124.4(ERCC6):c.3607_3608insGGGCTGGCTGCTTAAGGTCCACCTTA (p.Lys1203fs) variant DOID:0080908 Cockayne syndrome B IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cockayne syndrome B PMID:18414213|PMID:18628313|PMID:19894250|PMID:28492532|PMID:29572252|PMID:9443879 10044758 CV187991 NM_000124.4(ERCC6):c.3607_3608insGGGCTGGCTGCTTAAGGTCCACCTTA (p.Lys1203fs) variant DOID:0080911 cerebrooculofacioskeletal syndrome 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CEREBROOCULOFACIOSKELETAL SYNDROME 1 PMID:18414213|PMID:18628313|PMID:19894250|PMID:28492532|PMID:29572252|PMID:9443879 10044758 CV187991 NM_000124.4(ERCC6):c.3607_3608insGGGCTGGCTGCTTAAGGTCCACCTTA (p.Lys1203fs) variant DOID:0112158 De Sanctis-Cacchione syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: DE SANCTIS-CACCHIONE SYNDROME PMID:18414213|PMID:18628313|PMID:19894250|PMID:28492532|PMID:29572252|PMID:9443879 10044759 CV187990 NM_000124.4(ERCC6):c.3612_3613insT (p.Lys1205Ter) variant DOID:0080908 Cockayne syndrome B IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Cockayne syndrome, type B PMID:18414213 10044760 CV187989 NM_000124.4(ERCC6):c.3904C>T (p.Gln1302Ter) variant DOID:0080868 primary ovarian insufficiency 11 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 11 PMID:18414213|PMID:18628313|PMID:25741868|PMID:28492532|PMID:29572252 10044760 CV187989 NM_000124.4(ERCC6):c.3904C>T (p.Gln1302Ter) variant DOID:0080908 Cockayne syndrome B IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Cockayne syndrome B PMID:18414213|PMID:18628313|PMID:25741868|PMID:28492532|PMID:29572252 10044760 CV187989 NM_000124.4(ERCC6):c.3904C>T (p.Gln1302Ter) variant DOID:0080911 cerebrooculofacioskeletal syndrome 1 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 1 PMID:18414213|PMID:18628313|PMID:25741868|PMID:28492532|PMID:29572252 10044760 CV187989 NM_000124.4(ERCC6):c.3904C>T (p.Gln1302Ter) variant DOID:0110028 age related macular degeneration 5 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Age related macular degeneration 5 PMID:18414213|PMID:18628313|PMID:25741868|PMID:28492532|PMID:29572252 10044760 CV187989 NM_000124.4(ERCC6):c.3904C>T (p.Gln1302Ter) variant DOID:0112158 De Sanctis-Cacchione syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: DE SANCTIS-CACCHIONE SYNDROME PMID:18414213|PMID:18628313|PMID:25741868|PMID:28492532|PMID:29572252 10044760 CV187989 NM_000124.4(ERCC6):c.3904C>T (p.Gln1302Ter) variant DOID:1324 lung cancer IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Lung cancer, somatic PMID:18414213|PMID:18628313|PMID:25741868|PMID:28492532|PMID:29572252 10044760 CV187989 NM_000124.4(ERCC6):c.3904C>T (p.Gln1302Ter) variant DOID:9006274 UV-Sensitive Syndrome 1 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: UV-sensitive syndrome 1 PMID:18414213|PMID:18628313|PMID:25741868|PMID:28492532|PMID:29572252 10044761 CV187988 NM_000124.4(ERCC6):c.3952_3953del (p.Arg1318fs) variant DOID:0080868 primary ovarian insufficiency 11 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 11 PMID:18414213|PMID:18628313|PMID:25741868|PMID:28492532|PMID:29572252|PMID:31130284|PMID:32453336|PMID:32496904|PMID:32504035|PMID:32853555 10044761 CV187988 NM_000124.4(ERCC6):c.3952_3953del (p.Arg1318fs) variant DOID:0080908 Cockayne syndrome B IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Cockayne syndrome B PMID:18414213|PMID:18628313|PMID:25741868|PMID:28492532|PMID:29572252|PMID:31130284|PMID:32453336|PMID:32496904|PMID:32504035|PMID:32853555 10044761 CV187988 NM_000124.4(ERCC6):c.3952_3953del (p.Arg1318fs) variant DOID:0080911 cerebrooculofacioskeletal syndrome 1 IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: CEREBROOCULOFACIOSKELETAL SYNDROME 1 PMID:18414213|PMID:18628313|PMID:25741868|PMID:28492532|PMID:29572252|PMID:31130284|PMID:32453336|PMID:32496904|PMID:32504035|PMID:32853555 10044761 CV187988 NM_000124.4(ERCC6):c.3952_3953del (p.Arg1318fs) variant DOID:0110028 age related macular degeneration 5 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Age related macular degeneration 5 PMID:18414213|PMID:18628313|PMID:25741868|PMID:28492532|PMID:29572252|PMID:31130284|PMID:32453336|PMID:32496904|PMID:32504035|PMID:32853555 10044761 CV187988 NM_000124.4(ERCC6):c.3952_3953del (p.Arg1318fs) variant DOID:0112158 De Sanctis-Cacchione syndrome IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: DE SANCTIS-CACCHIONE SYNDROME PMID:18414213|PMID:18628313|PMID:25741868|PMID:28492532|PMID:29572252|PMID:31130284|PMID:32453336|PMID:32496904|PMID:32504035|PMID:32853555 10044761 CV187988 NM_000124.4(ERCC6):c.3952_3953del (p.Arg1318fs) variant DOID:1324 lung cancer IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: EGFR-related lung cancer PMID:18414213|PMID:18628313|PMID:25741868|PMID:28492532|PMID:29572252|PMID:31130284|PMID:32453336|PMID:32496904|PMID:32504035|PMID:32853555 10044761 CV187988 NM_000124.4(ERCC6):c.3952_3953del (p.Arg1318fs) variant DOID:2962 Cockayne syndrome IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Progeroid nanism PMID:18414213|PMID:18628313|PMID:25741868|PMID:28492532|PMID:29572252|PMID:31130284|PMID:32453336|PMID:32496904|PMID:32504035|PMID:32853555 10044761 CV187988 NM_000124.4(ERCC6):c.3952_3953del (p.Arg1318fs) variant DOID:9006274 UV-Sensitive Syndrome 1 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: UV-sensitive syndrome 1 PMID:18414213|PMID:18628313|PMID:25741868|PMID:28492532|PMID:29572252|PMID:31130284|PMID:32453336|PMID:32496904|PMID:32504035|PMID:32853555 10044762 CV187987 NM_000124.4(ERCC6):c.4007del (p.Asn1336fs) variant DOID:0080908 Cockayne syndrome B IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Cockayne syndrome, type B PMID:18414213 10044763 CV187986 NM_000124.4(ERCC6):c.4186A>G (p.Arg1396Gly) variant DOID:0112158 De Sanctis-Cacchione syndrome IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: DE SANCTIS-CACCHIONE SYNDROME PMID:18414213|PMID:25741868|PMID:28492532 10044763 CV187986 NM_000124.4(ERCC6):c.4186A>G (p.Arg1396Gly) variant DOID:630 genetic disease IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:25741868|PMID:28492532 10044764 CV187983 NM_000082.4(ERCC8):c.141del (p.Asn47fs) variant DOID:0080907 Cockayne syndrome A IAGP D RGD:8554872 20180925 ClinVar ClinVar Annotator: match by term: Cockayne syndrome type A PMID:18414213 10044765 CV188035 NM_001110556.2(FLNA):c.1430-1G>T variant DOID:0050454 periventricular nodular heterotopia IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: X-linked periventricular heterotopia PMID:18414213 10044766 CV188014 NM_001110556.2(FLNA):c.6635_6638del (p.Val2212fs) variant DOID:0050454 periventricular nodular heterotopia IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:16684786|PMID:18414213|PMID:20730588|PMID:26471271|PMID:28492532 10044767 CV188037 NM_001110556.2(FLNA):c.1045G>T (p.Glu349Ter) variant DOID:0050454 periventricular nodular heterotopia IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: X-linked periventricular heterotopia PMID:18414213 10044768 CV188036 NM_001110556.2(FLNA):c.1061_1065del (p.His354fs) variant DOID:0050454 periventricular nodular heterotopia IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: X-linked periventricular heterotopia PMID:18414213 10044769 CV188041 NM_001110556.2(FLNA):c.137del (p.Gln46fs) variant DOID:0050454 periventricular nodular heterotopia IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: X-linked periventricular heterotopia PMID:18414213 10044770 CV188034 NM_001110556.2(FLNA):c.1722T>A (p.Cys574Ter) variant DOID:0050454 periventricular nodular heterotopia IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: X-linked periventricular heterotopia PMID:18414213 10044771 CV188033 NM_001110556.2(FLNA):c.1829-2A>G variant DOID:0050454 periventricular nodular heterotopia IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: X-linked periventricular heterotopia PMID:18414213 10044772 CV188032 NM_001110556.2(FLNA):c.1850C>T (p.Ser617Leu) variant DOID:0050454 periventricular nodular heterotopia IAGP D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: X-linked periventricular heterotopia PMID:18414213|PMID:28492532 10044773 CV188031 NM_001110556.2(FLNA):c.2023-6C>T variant DOID:0050454 periventricular nodular heterotopia IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: X-linked periventricular heterotopia PMID:18414213|PMID:28492532 10044774 CV188030 NM_001110556.2(FLNA):c.2565+1G>C variant DOID:0050454 periventricular nodular heterotopia IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: X-linked periventricular heterotopia PMID:18414213 10044776 CV188028 NM_001110556.2(FLNA):c.3529del (p.Glu1177fs) variant DOID:0050454 periventricular nodular heterotopia IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: X-linked periventricular heterotopia PMID:18414213 10044777 CV188027 NM_001110556.2(FLNA):c.3875_3888dup (p.Val1297fs) variant DOID:0050454 periventricular nodular heterotopia IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: X-linked periventricular heterotopia PMID:18414213 10044778 CV188026 NM_001110556.2(FLNA):c.3980-5_3990dup variant DOID:0050454 periventricular nodular heterotopia IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: X-linked periventricular heterotopia PMID:18414213 10044779 CV188025 NM_001110556.2(FLNA):c.4006del (p.Asp1336fs) variant DOID:0050454 periventricular nodular heterotopia IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: X-linked periventricular heterotopia PMID:18414213 10044780 CV188024 NM_001110556.2(FLNA):c.4060G>A (p.Asp1354Asn) variant DOID:0050454 periventricular nodular heterotopia IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:18414213|PMID:25741868|PMID:28492532 10044780 CV188024 NM_001110556.2(FLNA):c.4060G>A (p.Asp1354Asn) variant DOID:0111784 otopalatodigital syndrome type 2 IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II PMID:18414213|PMID:25741868|PMID:28492532 10044780 CV188024 NM_001110556.2(FLNA):c.4060G>A (p.Asp1354Asn) variant DOID:0111785 frontometaphyseal dysplasia IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Frontometaphyseal dysplasia PMID:18414213|PMID:25741868|PMID:28492532 10044780 CV188024 NM_001110556.2(FLNA):c.4060G>A (p.Asp1354Asn) variant DOID:0111788 Melnick-Needles syndrome IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles PMID:18414213|PMID:25741868|PMID:28492532 10044780 CV188024 NM_001110556.2(FLNA):c.4060G>A (p.Asp1354Asn) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:18414213|PMID:25741868|PMID:28492532 10044780 CV188024 NM_001110556.2(FLNA):c.4060G>A (p.Asp1354Asn) variant DOID:9005082 Periventricular Nodular Heterotopia 4 IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: HETEROTOPIA, PERIVENTRICULAR, EHLERS-DANLOS VARIANT PMID:18414213|PMID:25741868|PMID:28492532 10044781 CV188023 NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg) variant DOID:0050454 periventricular nodular heterotopia IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: X-linked periventricular heterotopia PMID:18414213|PMID:21836662|PMID:25741868|PMID:26467025|PMID:28492532 10044781 CV188023 NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg) variant DOID:0111784 otopalatodigital syndrome type 2 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II PMID:18414213|PMID:21836662|PMID:25741868|PMID:26467025|PMID:28492532 10044781 CV188023 NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg) variant DOID:0111785 frontometaphyseal dysplasia IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Frontometaphyseal dysplasia PMID:18414213|PMID:21836662|PMID:25741868|PMID:26467025|PMID:28492532 10044781 CV188023 NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg) variant DOID:0111788 Melnick-Needles syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles PMID:18414213|PMID:21836662|PMID:25741868|PMID:26467025|PMID:28492532 10044781 CV188023 NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:18414213|PMID:21836662|PMID:25741868|PMID:26467025|PMID:28492532 10044781 CV188023 NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg) variant DOID:1588 thrombocytopenia IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:18414213|PMID:21836662|PMID:25741868|PMID:26467025|PMID:28492532 10044781 CV188023 NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg) variant DOID:3627 aortic aneurysm IAGP D RGD:8554872 20180313 ClinVar ClinVar Annotator: match by term: Aortic dilatation PMID:18414213|PMID:21836662|PMID:25741868|PMID:26467025|PMID:28492532 10044781 CV188023 NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg) variant DOID:65 connective tissue disease IAGP D RGD:8554872 20180807 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:18414213|PMID:21836662|PMID:25741868|PMID:26467025|PMID:28492532 10044781 CV188023 NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg) variant DOID:9005082 Periventricular Nodular Heterotopia 4 IAGP D RGD:8554872 20180508 ClinVar ClinVar Annotator: match by term: HETEROTOPIA, PERIVENTRICULAR, EHLERS-DANLOS VARIANT PMID:18414213|PMID:21836662|PMID:25741868|PMID:26467025|PMID:28492532 10044782 CV188022 NM_001110556.2(FLNA):c.4617_4618del (p.Leu1540fs) variant DOID:0050454 periventricular nodular heterotopia IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: X-linked periventricular heterotopia PMID:18414213 10044783 CV188021 NM_001110556.2(FLNA):c.4866C>T (p.Tyr1622=) variant DOID:0050454 periventricular nodular heterotopia IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Periventricular nodular heterotopia 1 PMID:18414213|PMID:25741868|PMID:28492532 10044783 CV188021 NM_001110556.2(FLNA):c.4866C>T (p.Tyr1622=) variant DOID:0111784 otopalatodigital syndrome type 2 IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II PMID:18414213|PMID:25741868|PMID:28492532 10044783 CV188021 NM_001110556.2(FLNA):c.4866C>T (p.Tyr1622=) variant DOID:0111785 frontometaphyseal dysplasia IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Frontometaphyseal dysplasia PMID:18414213|PMID:25741868|PMID:28492532 10044783 CV188021 NM_001110556.2(FLNA):c.4866C>T (p.Tyr1622=) variant DOID:0111788 Melnick-Needles syndrome IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles PMID:18414213|PMID:25741868|PMID:28492532 10044783 CV188021 NM_001110556.2(FLNA):c.4866C>T (p.Tyr1622=) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:18414213|PMID:25741868|PMID:28492532 10044783 CV188021 NM_001110556.2(FLNA):c.4866C>T (p.Tyr1622=) variant DOID:9002387 FG Syndrome 2 IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: FG syndrome 2 PMID:18414213|PMID:25741868|PMID:28492532 10044783 CV188021 NM_001110556.2(FLNA):c.4866C>T (p.Tyr1622=) variant DOID:9005082 Periventricular Nodular Heterotopia 4 IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant PMID:18414213|PMID:25741868|PMID:28492532 10044784 CV188020 NM_001110556.2(FLNA):c.4926C>T (p.Ala1642=) variant DOID:0050454 periventricular nodular heterotopia IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:18414213|PMID:28492532 10044784 CV188020 NM_001110556.2(FLNA):c.4926C>T (p.Ala1642=) variant DOID:0111784 otopalatodigital syndrome type 2 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II PMID:18414213|PMID:28492532 10044784 CV188020 NM_001110556.2(FLNA):c.4926C>T (p.Ala1642=) variant DOID:0111785 frontometaphyseal dysplasia IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Frontometaphyseal dysplasia PMID:18414213|PMID:28492532 10044784 CV188020 NM_001110556.2(FLNA):c.4926C>T (p.Ala1642=) variant DOID:0111788 Melnick-Needles syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles PMID:18414213|PMID:28492532 10044784 CV188020 NM_001110556.2(FLNA):c.4926C>T (p.Ala1642=) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:18414213|PMID:28492532 10044784 CV188020 NM_001110556.2(FLNA):c.4926C>T (p.Ala1642=) variant DOID:9005082 Periventricular Nodular Heterotopia 4 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: PERIVENTRICULAR NODULAR HETEROTOPIA 4 PMID:18414213|PMID:28492532 10044785 CV188019 NM_001110556.2(FLNA):c.4935C>A (p.Cys1645Ter) variant DOID:0050454 periventricular nodular heterotopia IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: X-linked periventricular heterotopia PMID:18414213 10044786 CV188018 NM_001110556.2(FLNA):c.4943del (p.Thr1648fs) variant DOID:0050454 periventricular nodular heterotopia IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: X-linked periventricular heterotopia PMID:18414213 10044788 CV188040 NM_001110556.2(FLNA):c.623-20_623-12del variant DOID:0050454 periventricular nodular heterotopia IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: X-linked periventricular heterotopia PMID:18414213 10044789 CV188016 NM_001110556.2(FLNA):c.6355_6356del (p.Lys2119fs) variant DOID:0050454 periventricular nodular heterotopia IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: X-linked periventricular heterotopia PMID:18414213 10044790 CV188015 NM_001110556.2(FLNA):c.6580G>T (p.Glu2194Ter) variant DOID:0050454 periventricular nodular heterotopia IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: X-linked periventricular heterotopia PMID:18414213 10044791 CV188039 NM_001110556.2(FLNA):c.732dup (p.Glu245fs) variant DOID:0050454 periventricular nodular heterotopia IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: X-linked periventricular heterotopia PMID:18414213 10044792 CV188038 NM_001110556.2(FLNA):c.987+1G>A variant DOID:0050454 periventricular nodular heterotopia IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:18414213|PMID:25741868 10044792 CV188038 NM_001110556.2(FLNA):c.987+1G>A variant DOID:9005082 Periventricular Nodular Heterotopia 4 IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: PERIVENTRICULAR NODULAR HETEROTOPIA 4 PMID:18414213|PMID:25741868 10044793 CV187984 NM_000380.4(XPA):c.545_546insTA (p.Leu182fs) variant DOID:0110843 xeroderma pigmentosum group A IAGP D RGD:8554872 20180417 ClinVar ClinVar Annotator: match by term: XP, GROUP A PMID:18414213 10044794 CV187974 NM_004628.5(XPC):c.2262del (p.Asn754fs) variant DOID:0110844 xeroderma pigmentosum group C IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum, complementation group c PMID:18414213 10044796 CV187978 NM_004628.5(XPC):c.1677C>A (p.Tyr559Ter) variant DOID:0110844 xeroderma pigmentosum group C IAGP D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum, group C PMID:18414213|PMID:23278166|PMID:25566891 10044797 CV187975 NM_004628.5(XPC):c.2251-1G>C variant DOID:0050427 xeroderma pigmentosum IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum PMID:18414213|PMID:21482201|PMID:25741868|PMID:26884178|PMID:28492532|PMID:29569758|PMID:31017654|PMID:32239545|PMID:35111200 10044797 CV187975 NM_004628.5(XPC):c.2251-1G>C variant DOID:0110844 xeroderma pigmentosum group C IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Xeroderma pigmentosum, group C PMID:18414213|PMID:21482201|PMID:25741868|PMID:26884178|PMID:28492532|PMID:29569758|PMID:31017654|PMID:32239545|PMID:35111200 10044798 CV188053 NM_007254.4(PNKP):c.1221_1223del (p.Thr408del) variant DOID:0080457 microcephaly, seizures, and developmental delay IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 10 PMID:25728773|PMID:25741868|PMID:27066567|PMID:28492532|PMID:30039206 10044798 CV188053 NM_007254.4(PNKP):c.1221_1223del (p.Thr408del) variant DOID:0080459 developmental and epileptic encephalopathy 12 IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12 PMID:25728773|PMID:25741868|PMID:27066567|PMID:28492532|PMID:30039206 10044798 CV188053 NM_007254.4(PNKP):c.1221_1223del (p.Thr408del) variant DOID:0081383 ataxia-oculomotor apraxia 4 IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Ataxia-oculomotor apraxia 4 PMID:25728773|PMID:25741868|PMID:27066567|PMID:28492532|PMID:30039206 10044798 CV188053 NM_007254.4(PNKP):c.1221_1223del (p.Thr408del) variant DOID:0110179 Charcot-Marie-Tooth disease type 2B2 IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B2 PMID:25728773|PMID:25741868|PMID:27066567|PMID:28492532|PMID:30039206 10044799 CV188055 NM_001008537.3(NEXMIF):c.1882C>T (p.Arg628Ter) variant DOID:0112044 non-syndromic X-linked intellectual disability 98 IAGP D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Mental retardation, X-linked 98 PMID:15466006|PMID:23615299|PMID:24307393|PMID:25741868|PMID:27358180|PMID:27568816|PMID:28492532|PMID:32860008 10044799 CV188055 NM_001008537.3(NEXMIF):c.1882C>T (p.Arg628Ter) variant DOID:630 genetic disease IAGP D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15466006|PMID:23615299|PMID:24307393|PMID:25741868|PMID:27358180|PMID:27568816|PMID:28492532|PMID:32860008 10044800 CV188052 NM_006493.4(CLN5):c.187C>T (p.Arg63Cys) variant DOID:0110728 neuronal ceroid lipofuscinosis 5 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 5 PMID:15728307|PMID:20052765|PMID:20301601|PMID:25741868|PMID:28492532|PMID:30078242 10044800 CV188052 NM_006493.4(CLN5):c.187C>T (p.Arg63Cys) variant DOID:14503 neuronal ceroid lipofuscinosis IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:15728307|PMID:20052765|PMID:20301601|PMID:25741868|PMID:28492532|PMID:30078242 10044800 CV188052 NM_006493.4(CLN5):c.187C>T (p.Arg63Cys) variant DOID:630 genetic disease IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15728307|PMID:20052765|PMID:20301601|PMID:25741868|PMID:28492532|PMID:30078242 10044801 CV188054 NM_024411.5(PDYN):c.217A>G (p.Thr73Ala) variant DOID:0050973 spinocerebellar ataxia 23 IAGP D RGD:8554872 20180807 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia 23 PMID:21035104 10044802 CV188047 NM_025243.4(SLC19A3):c.74dup (p.Ser26fs) variant DOID:0050659 biotin-responsive basal ganglia disease IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Biotin-responsive basal ganglia disease PMID:20065143|PMID:23423671|PMID:23482991|PMID:25741868|PMID:27290639|PMID:27896110|PMID:28492532 10044803 CV188046 NM_001165963.4(SCN1A):c.2214G>A (p.Trp738Ter) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:20301494|PMID:22848613|PMID:25741868 10044803 CV188046 NM_001165963.4(SCN1A):c.2214G>A (p.Trp738Ter) variant DOID:0111294 generalized epilepsy with febrile seizures plus 2 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 2 PMID:20301494|PMID:22848613|PMID:25741868 10044804 CV188056 NM_017763.6(RNF43):c.394C>T (p.Arg132Ter) variant DOID:9001231 Sessile Serrated Polyposis Cancer Syndrome IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Sessile serrated polyposis cancer syndrome PMID:22552244|PMID:25677497|PMID:27081527 10044804 CV188056 NM_017763.6(RNF43):c.394C>T (p.Arg132Ter) variant DOID:9008330 Serrated Polyposis IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Colon serrated polyposis PMID:22552244|PMID:25677497|PMID:27081527 10044805 CV188058 NM_002485.5(NBN):c.842T>G (p.Leu281Ter) variant DOID:12449 aplastic anemia IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Aplastic anemia PMID:16415040|PMID:25677497|PMID:25741868|PMID:28492532|PMID:29922827|PMID:9590180 10044805 CV188058 NM_002485.5(NBN):c.842T>G (p.Leu281Ter) variant DOID:7400 Nijmegen breakage syndrome IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Microcephaly, normal intelligence and immunodeficiency PMID:16415040|PMID:25677497|PMID:25741868|PMID:28492532|PMID:29922827|PMID:9590180 10044805 CV188058 NM_002485.5(NBN):c.842T>G (p.Leu281Ter) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:16415040|PMID:25677497|PMID:25741868|PMID:28492532|PMID:29922827|PMID:9590180 10044805 CV188058 NM_002485.5(NBN):c.842T>G (p.Leu281Ter) variant DOID:9952 acute lymphoblastic leukemia IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Acute lymphocytic leukemia PMID:16415040|PMID:25677497|PMID:25741868|PMID:28492532|PMID:29922827|PMID:9590180 10044806 CV188057 NM_002485.5(NBN):c.1030C>T (p.Gln344Ter) variant DOID:12449 aplastic anemia IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Aplastic anemia PMID:16415040|PMID:25677497|PMID:25741868|PMID:28492532|PMID:9590180 10044806 CV188057 NM_002485.5(NBN):c.1030C>T (p.Gln344Ter) variant DOID:7400 Nijmegen breakage syndrome IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Microcephaly, normal intelligence and immunodeficiency PMID:16415040|PMID:25677497|PMID:25741868|PMID:28492532|PMID:9590180 10044806 CV188057 NM_002485.5(NBN):c.1030C>T (p.Gln344Ter) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:16415040|PMID:25677497|PMID:25741868|PMID:28492532|PMID:9590180 10044807 CV188059 NM_002337.4(LRPAP1):c.199del (p.Gln67fs) variant DOID:9001833 Myopia 23, Autosomal Recessive IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Myopia 23, autosomal recessive PMID:25525168 10044808 CV188060 NM_006129.5(BMP1):c.2108-359T>C variant DOID:0110342 osteogenesis imperfecta type 13 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta, type xiii PMID:15542026|PMID:25214535 10044809 CV188061 NM_006129.5(BMP1):c.2107G>C (p.Asp703His) variant DOID:0110342 osteogenesis imperfecta type 13 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta, type xiii PMID:25214535 10044810 CV188062 NM_006129.5(BMP1):c.808A>G (p.Met270Val) variant DOID:0110342 osteogenesis imperfecta type 13 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta, type xiii PMID:25402547 10044811 CV188063 NM_006129.5(BMP1):c.1297G>T (p.Ala433Ser) variant DOID:0110342 osteogenesis imperfecta type 13 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 13 PMID:17576681|PMID:25402547|PMID:28492532|PMID:9536098 10044812 CV188064 NM_005360.5(MAF):c.895C>A (p.Arg299Ser) variant DOID:0110256 cataract 21 multiple types IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cataract 21 multiple types PMID:17982426|PMID:25064449|PMID:25741868 10044813 CV188065 NM_005360.5(MAF):c.908A>C (p.Gln303Pro) variant DOID:0110256 cataract 21 multiple types IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Cataract, pulverulent, juvenile-onset PMID:24664492 10044814 CV188066 NM_001572.5(IRF7):c.1228T>G (p.Phe410Val) variant DOID:0111969 immunodeficiency 39 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency 39 PMID:25814066|PMID:28492532 10044816 CV188070 NM_001987.5(ETV6):c.1046T>C (p.Leu349Pro) variant DOID:1588 thrombocytopenia IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:26102509 10044816 CV188070 NM_001987.5(ETV6):c.1046T>C (p.Leu349Pro) variant DOID:630 genetic disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26102509 10044816 CV188070 NM_001987.5(ETV6):c.1046T>C (p.Leu349Pro) variant DOID:9952 acute lymphoblastic leukemia IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Acute lymphoid leukemia PMID:26102509 10044817 CV188075 NM_021728.4(OTX2):c.259G>A (p.Glu87Lys) variant DOID:0111806 syndromic microphthalmia 5 IAGP D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Syndromic microphthalmia type 5 PMID:25293953 10044818 CV188107 NM_014362.4(HIBCH):c.196C>T (p.Arg66Trp) variant DOID:0060949 3-hydroxyisobutryl-CoA hydrolase deficiency IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Beta-hydroxyisobutyryl-CoA deacylase deficiency PMID:26026795|PMID:28492532 10044819 CV178829 NM_002582.4(PARN):c.863dup (p.Asn288fs) variant DOID:0070024 autosomal recessive dyskeratosis congenita 6 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 6 PMID:25893599 10044820 CV188131 NM_001135998.3(NDUFB11):c.262C>T (p.Arg88Ter) variant DOID:0080198 infantile histiocytoid cardiomyopathy IAGP D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Infantile histiocytoid cardiomyopathy PMID:25741868|PMID:25772934 10044820 CV188131 NM_001135998.3(NDUFB11):c.262C>T (p.Arg88Ter) variant DOID:0111808 linear skin defects with multiple congenital anomalies 1 IAGP D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Linear skin defects with multiple congenital anomalies 1 PMID:25741868|PMID:25772934 10044820 CV188131 NM_001135998.3(NDUFB11):c.262C>T (p.Arg88Ter) variant DOID:0111876 linear skin defects with multiple congenital anomalies 3 IAGP D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Linear skin defects with multiple congenital anomalies 3 PMID:25741868|PMID:25772934 10044821 CV188138 NM_001987.5(ETV6):c.1252A>G (p.Arg418Gly) variant DOID:630 genetic disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25807284 10044821 CV188138 NM_001987.5(ETV6):c.1252A>G (p.Arg418Gly) variant DOID:9005805 Thrombocytopenia 5 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Thrombocytopenia 5 PMID:25807284 10044822 CV188141 NM_014225.6(PPP2R1A):c.544C>T (p.Arg182Trp) variant DOID:0070066 autosomal dominant intellectual developmental disorder 36 IAGP D RGD:8554872 20230829 ClinVar ClinVar Annotator: match by term: Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome PMID:25533962|PMID:25741868|PMID:26168268|PMID:28492532|PMID:33106617 10044822 CV188141 NM_014225.6(PPP2R1A):c.544C>T (p.Arg182Trp) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25533962|PMID:25741868|PMID:26168268|PMID:28492532|PMID:33106617 10044823 CV188142 NM_014225.6(PPP2R1A):c.536C>T (p.Pro179Leu) variant DOID:0070066 autosomal dominant intellectual developmental disorder 36 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 36 PMID:25533962|PMID:26168268 10044823 CV188142 NM_014225.6(PPP2R1A):c.536C>T (p.Pro179Leu) variant DOID:630 genetic disease IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25533962|PMID:26168268 10044824 CV188147 NM_153816.6(SNX14):c.1132C>T (p.Arg378Ter) variant DOID:0080066 autosomal recessive spinocerebellar ataxia 20 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 20 PMID:25741868|PMID:25848753 10044824 CV188147 NM_153816.6(SNX14):c.1132C>T (p.Arg378Ter) variant DOID:9002121 Spinocerebellar Ataxias IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Spinocerebellar atrophy PMID:25741868|PMID:25848753 10044825 CV188150 NM_001957.4(EDNRA):c.386A>T (p.Tyr129Phe) variant DOID:0060365 mandibulofacial dysostosis with alopecia IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Mandibulofacial dysostosis with alopecia PMID:20583178|PMID:25772936 10044826 CV188153 NM_004974.4(KCNA2):c.788T>C (p.Ile263Thr) variant DOID:0080416 developmental and epileptic encephalopathy 32 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 32 PMID:25751627|PMID:28492532 10044827 CV188155 NM_004974.4(KCNA2):c.890G>A (p.Arg297Gln) variant DOID:0080416 developmental and epileptic encephalopathy 32 IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 32 PMID:15694325|PMID:16002579|PMID:21044565|PMID:25477152|PMID:25741868|PMID:25751627|PMID:27733563|PMID:28492532|PMID:29100083|PMID:8663992|PMID:8663993 10044827 CV188155 NM_004974.4(KCNA2):c.890G>A (p.Arg297Gln) variant DOID:0080468 developmental and epileptic encephalopathy 1 IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 PMID:15694325|PMID:16002579|PMID:21044565|PMID:25477152|PMID:25741868|PMID:25751627|PMID:27733563|PMID:28492532|PMID:29100083|PMID:8663992|PMID:8663993 10044827 CV188155 NM_004974.4(KCNA2):c.890G>A (p.Arg297Gln) variant DOID:630 genetic disease IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15694325|PMID:16002579|PMID:21044565|PMID:25477152|PMID:25741868|PMID:25751627|PMID:27733563|PMID:28492532|PMID:29100083|PMID:8663992|PMID:8663993 10044827 CV188155 NM_004974.4(KCNA2):c.890G>A (p.Arg297Gln) variant DOID:9004429 Neurodevelopmental Disorders IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:15694325|PMID:16002579|PMID:21044565|PMID:25477152|PMID:25741868|PMID:25751627|PMID:27733563|PMID:28492532|PMID:29100083|PMID:8663992|PMID:8663993 10044828 CV188156 NM_014423.4(AFF4):c.760A>G (p.Thr254Ala) variant DOID:9006799 CHOPS Syndrome IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome PMID:25730767 10044829 CV188207 NM_000183.3(HADHB):c.1175C>T (p.Ala392Val) variant DOID:0060999 mitochondrial trifunctional protein deficiency 2 IAGP D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Mitochondrial trifunctional protein deficiency 2 with myopathy and neuropathy PMID:24664533|PMID:28492532|PMID:28515471|PMID:29956646 10044829 CV188207 NM_000183.3(HADHB):c.1175C>T (p.Ala392Val) variant DOID:0111277 mitochondrial trifunctional protein deficiency IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Mitochondrial trifunctional protein deficiency PMID:24664533|PMID:28492532|PMID:28515471|PMID:29956646 10044834 CV188282 NM_001079514.3(UBN1):c.2356T>A (p.Leu786Met) variant DOID:9008386 Hydrops Fetalis IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:26036949 10044835 CV188272 NM_001164508.2(NEB):c.21076C>T (p.Arg7026Ter) variant DOID:0070336 arthrogryposis multiplex congenita-6 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 6 PMID:18330676|PMID:25205138|PMID:25741868|PMID:26036949|PMID:26841830|PMID:28492532 10044835 CV188272 NM_001164508.2(NEB):c.21076C>T (p.Arg7026Ter) variant DOID:0110928 nemaline myopathy 2 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 2 PMID:18330676|PMID:25205138|PMID:25741868|PMID:26036949|PMID:26841830|PMID:28492532 10044835 CV188272 NM_001164508.2(NEB):c.21076C>T (p.Arg7026Ter) variant DOID:3191 nemaline myopathy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Nemaline myopathy PMID:18330676|PMID:25205138|PMID:25741868|PMID:26036949|PMID:26841830|PMID:28492532 10044835 CV188272 NM_001164508.2(NEB):c.21076C>T (p.Arg7026Ter) variant DOID:9008386 Hydrops Fetalis IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:18330676|PMID:25205138|PMID:25741868|PMID:26036949|PMID:26841830|PMID:28492532 10044836 CV188283 NM_003803.4(MYOM1):c.4987G>A (p.Val1663Met) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:26036949|PMID:28492532|PMID:31130284 10044836 CV188283 NM_003803.4(MYOM1):c.4987G>A (p.Val1663Met) variant DOID:9008386 Hydrops Fetalis IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Non-immune hydrops fetalis PMID:26036949|PMID:28492532|PMID:31130284 10044837 CV188299 NM_032492.4(JAGN1):c.59G>A (p.Arg20Gln) variant DOID:0050590 severe congenital neutropenia IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Severe congenital neutropenia PMID:25129144|PMID:28492532 10044837 CV188299 NM_032492.4(JAGN1):c.59G>A (p.Arg20Gln) variant DOID:0112134 severe congenital neutropenia 6 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency PMID:25129144|PMID:28492532 10044838 CV188444 NM_005751.5(AKAP9):c.4814C>T (p.Thr1605Met) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044840 CV188460 NM_005751.5(AKAP9):c.10319T>C (p.Met3440Thr) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044842 CV188430 NM_005751.5(AKAP9):c.119G>A (p.Arg40Lys) variant DOID:0110644 long QT syndrome 1 IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:25741868 10044842 CV188430 NM_005751.5(AKAP9):c.119G>A (p.Arg40Lys) variant DOID:0110652 long QT syndrome 11 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Long QT syndrome 11 PMID:25741868 10044842 CV188430 NM_005751.5(AKAP9):c.119G>A (p.Arg40Lys) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome PMID:25741868 10044842 CV188430 NM_005751.5(AKAP9):c.119G>A (p.Arg40Lys) variant DOID:9004730 Romano-Ward Syndrome IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome PMID:25741868 10044843 CV188431 NM_005751.5(AKAP9):c.235C>T (p.Pro79Ser) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532|PMID:35932045 10044845 CV188454 NM_005751.5(AKAP9):c.8212G>C (p.Asp2738His) variant DOID:0110652 long QT syndrome 11 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome 11 PMID:25741868|PMID:28492532 10044845 CV188454 NM_005751.5(AKAP9):c.8212G>C (p.Asp2738His) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10044846 CV188429 NM_005751.5(AKAP9):c.109A>G (p.Lys37Glu) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044847 CV188348 NM_001148.6(ANK2):c.1680C>T (p.Thr560=) variant DOID:0111700 ankyrin-B-related cardiac arrhythmia IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia, ankyrin-B-related PMID:25741868|PMID:28492532 10044847 CV188348 NM_001148.6(ANK2):c.1680C>T (p.Thr560=) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10044848 CV188356 NM_001148.6(ANK2):c.2160T>A (p.Asp720Glu) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044849 CV188358 NM_001148.6(ANK2):c.2443G>A (p.Val815Ile) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044850 CV188360 NM_001148.6(ANK2):c.2479A>G (p.Ile827Val) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044851 CV188368 NM_001148.6(ANK2):c.2837G>A (p.Arg946His) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044853 CV188399 NM_001148.6(ANK2):c.10889-8T>A variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044854 CV188335 NM_001148.6(ANK2):c.961C>T (p.Arg321Trp) variant DOID:0050451 Brugada syndrome IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:25741868|PMID:28492532|PMID:28855170|PMID:30847666|PMID:32600061 10044854 CV188335 NM_001148.6(ANK2):c.961C>T (p.Arg321Trp) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532|PMID:28855170|PMID:30847666|PMID:32600061 10044854 CV188335 NM_001148.6(ANK2):c.961C>T (p.Arg321Trp) variant DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:25741868|PMID:28492532|PMID:28855170|PMID:30847666|PMID:32600061 10044855 CV188337 NM_001148.6(ANK2):c.1118C>T (p.Ala373Val) variant DOID:0111700 ankyrin-B-related cardiac arrhythmia IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ANKYRIN-B SYNDROME PMID:25741868|PMID:27824329|PMID:28492532|PMID:31638414|PMID:33004838 10044855 CV188337 NM_001148.6(ANK2):c.1118C>T (p.Ala373Val) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:27824329|PMID:28492532|PMID:31638414|PMID:33004838 10044856 CV188342 NM_001148.6(ANK2):c.1252G>A (p.Val418Met) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044857 CV188345 NM_001148.6(ANK2):c.1554A>T (p.Gln518His) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044858 CV188347 NM_001148.6(ANK2):c.1615C>T (p.Arg539Trp) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044859 CV188361 NM_001148.6(ANK2):c.2684G>A (p.Arg895Gln) variant DOID:0111700 ankyrin-B-related cardiac arrhythmia IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia, ankyrin-B-related PMID:25741868|PMID:27784853|PMID:28492532|PMID:32183154 10044859 CV188361 NM_001148.6(ANK2):c.2684G>A (p.Arg895Gln) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:27784853|PMID:28492532|PMID:32183154 10044861 CV188367 NM_001148.6(ANK2):c.2826G>T (p.Arg942Ser) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044863 CV188375 NM_001148.6(ANK2):c.3074G>C (p.Gly1025Ala) variant DOID:0111700 ankyrin-B-related cardiac arrhythmia IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: ANKYRIN-B SYNDROME PMID:25351510|PMID:25741868|PMID:28492532 10044863 CV188375 NM_001148.6(ANK2):c.3074G>C (p.Gly1025Ala) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome PMID:25351510|PMID:25741868|PMID:28492532 10044864 CV188377 NM_001148.6(ANK2):c.3085C>T (p.Arg1029Cys) variant DOID:0111700 ankyrin-B-related cardiac arrhythmia IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia, ankyrin-B-related PMID:25741868|PMID:28492532 10044864 CV188377 NM_001148.6(ANK2):c.3085C>T (p.Arg1029Cys) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10044865 CV188379 NM_001148.6(ANK2):c.3526G>T (p.Val1176Leu) variant DOID:0111700 ankyrin-B-related cardiac arrhythmia IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia, ankyrin B-related PMID:25741868|PMID:28492532 10044865 CV188379 NM_001148.6(ANK2):c.3526G>T (p.Val1176Leu) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10044866 CV188380 NM_001148.6(ANK2):c.3571C>T (p.Arg1191Trp) variant DOID:0111700 ankyrin-B-related cardiac arrhythmia IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia, ankyrin-B-related PMID:25741868|PMID:28492532 10044866 CV188380 NM_001148.6(ANK2):c.3571C>T (p.Arg1191Trp) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10044867 CV188381 NM_001148.6(ANK2):c.3572G>A (p.Arg1191Gln) variant DOID:0111700 ankyrin-B-related cardiac arrhythmia IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: ANKYRIN-B SYNDROME PMID:25741868|PMID:28492532|PMID:33004838 10044867 CV188381 NM_001148.6(ANK2):c.3572G>A (p.Arg1191Gln) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532|PMID:33004838 10044868 CV188386 NM_001148.6(ANK2):c.3979A>G (p.Met1327Val) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044868 CV188386 NM_001148.6(ANK2):c.3979A>G (p.Met1327Val) variant DOID:9849 Meniere's disease IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Meniere disease PMID:28492532 10044869 CV188391 NM_001148.6(ANK2):c.4835C>T (p.Thr1612Ile) variant DOID:0111700 ankyrin-B-related cardiac arrhythmia IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia, ankyrin B-related PMID:25741868|PMID:28492532 10044869 CV188391 NM_001148.6(ANK2):c.4835C>T (p.Thr1612Ile) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10044870 CV188400 NM_001148.6(ANK2):c.10948G>C (p.Glu3650Gln) variant DOID:0111700 ankyrin-B-related cardiac arrhythmia IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: ANKYRIN-B SYNDROME PMID:25741868|PMID:26899768|PMID:27930701|PMID:28166282|PMID:28492532|PMID:29706635 10044870 CV188400 NM_001148.6(ANK2):c.10948G>C (p.Glu3650Gln) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:26899768|PMID:27930701|PMID:28166282|PMID:28492532|PMID:29706635 10044871 CV188406 NM_001148.6(ANK2):c.11453G>A (p.Ser3818Asn) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044872 CV188408 NM_001148.6(ANK2):c.11470C>G (p.Pro3824Ala) variant DOID:0111700 ankyrin-B-related cardiac arrhythmia IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia, ankyrin B-related PMID:25741868|PMID:28492532 10044872 CV188408 NM_001148.6(ANK2):c.11470C>G (p.Pro3824Ala) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10044874 CV188415 NM_001148.6(ANK2):c.11557G>A (p.Asp3853Asn) variant DOID:0111700 ankyrin-B-related cardiac arrhythmia IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: ANKYRIN-B SYNDROME PMID:25741868|PMID:28492532 10044874 CV188415 NM_001148.6(ANK2):c.11557G>A (p.Asp3853Asn) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10044875 CV188419 NM_001148.6(ANK2):c.11717G>A (p.Arg3906Gln) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044876 CV188330 NM_001148.6(ANK2):c.80A>C (p.Lys27Thr) variant DOID:0111700 ankyrin-B-related cardiac arrhythmia IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: ANKYRIN-B SYNDROME PMID:25650408|PMID:25741868|PMID:28492532 10044876 CV188330 NM_001148.6(ANK2):c.80A>C (p.Lys27Thr) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25650408|PMID:25741868|PMID:28492532 10044877 CV188354 NM_001148.6(ANK2):c.2074A>G (p.Thr692Ala) variant DOID:0111700 ankyrin-B-related cardiac arrhythmia IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia, ankyrin-B-related PMID:25741868|PMID:28492532 10044877 CV188354 NM_001148.6(ANK2):c.2074A>G (p.Thr692Ala) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10044878 CV188362 NM_001148.6(ANK2):c.2713G>A (p.Asp905Asn) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044879 CV188365 NM_001148.6(ANK2):c.2813A>T (p.Lys938Met) variant DOID:0111700 ankyrin-B-related cardiac arrhythmia IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: ANKYRIN-B SYNDROME PMID:25741868|PMID:26220970|PMID:28492532 10044879 CV188365 NM_001148.6(ANK2):c.2813A>T (p.Lys938Met) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:26220970|PMID:28492532 10044881 CV188568 NM_000719.7(CACNA1C):c.2339+18C>T variant DOID:0060173 Timothy syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Timothy syndrome PMID:25741868|PMID:28492532 10044881 CV188568 NM_000719.7(CACNA1C):c.2339+18C>T variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10044882 CV188591 NM_000719.7(CACNA1C):c.3943A>G (p.Met1315Val) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25633834|PMID:28492532 10044883 CV188601 NM_000719.7(CACNA1C):c.4727-9G>A variant DOID:0050451 Brugada syndrome IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:28492532 10044883 CV188601 NM_000719.7(CACNA1C):c.4727-9G>A variant DOID:0060173 Timothy syndrome IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Timothy syndrome PMID:28492532 10044883 CV188601 NM_000719.7(CACNA1C):c.4727-9G>A variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044884 CV188521 NM_000719.7(CACNA1C):c.50-18T>C variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044885 CV188522 NM_000719.7(CACNA1C):c.50G>A (p.Gly17Asp) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044886 CV188546 NM_000719.7(CACNA1C):c.1366A>C (p.Met456Leu) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044887 CV188548 NM_000719.7(CACNA1C):c.1453G>A (p.Glu485Lys) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044888 CV188549 NM_000719.7(CACNA1C):c.1481C>T (p.Ala494Val) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044889 CV188555 NM_000719.7(CACNA1C):c.1693G>A (p.Ala565Thr) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044890 CV188556 NM_000719.7(CACNA1C):c.1703C>T (p.Thr568Met) variant DOID:0060173 Timothy syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Timothy syndrome PMID:25741868|PMID:28492532 10044890 CV188556 NM_000719.7(CACNA1C):c.1703C>T (p.Thr568Met) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10044891 CV188558 NM_000719.7(CACNA1C):c.1823C>T (p.Thr608Ile) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044892 CV188559 NM_000719.7(CACNA1C):c.1864G>A (p.Val622Ile) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044893 CV188570 NM_000719.7(CACNA1C):c.2517C>A (p.Asn839Lys) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044894 CV188581 NM_000719.7(CACNA1C):c.3424A>C (p.Ile1142Leu) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26743238|PMID:28492532 10044895 CV188589 NM_000719.7(CACNA1C):c.3874G>T (p.Val1292Leu) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044896 CV188594 NM_000719.7(CACNA1C):c.3946-44C>T variant DOID:0060173 Timothy syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Timothy syndrome PMID:25741868 10044897 CV188596 NM_000719.7(CACNA1C):c.4040G>A (p.Arg1347Gln) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044899 CV188599 NM_000719.7(CACNA1C):c.4216G>A (p.Val1406Met) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044900 CV188523 NM_000719.7(CACNA1C):c.70C>T (p.Arg24Cys) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532|PMID:31737537 10044901 CV188605 NM_000719.7(CACNA1C):c.4984G>A (p.Gly1662Arg) variant DOID:0060173 Timothy syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Timothy syndrome PMID:25741868|PMID:28492532 10044901 CV188605 NM_000719.7(CACNA1C):c.4984G>A (p.Gly1662Arg) variant DOID:0110220 Brugada syndrome 3 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Brugada syndrome 3 PMID:25741868|PMID:28492532 10044901 CV188605 NM_000719.7(CACNA1C):c.4984G>A (p.Gly1662Arg) variant DOID:0110649 long QT syndrome 8 IAGP D RGD:8554872 20240305 ClinVar ClinVar Annotator: match by term: Long qt syndrome 8 PMID:25741868|PMID:28492532 10044901 CV188605 NM_000719.7(CACNA1C):c.4984G>A (p.Gly1662Arg) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10044902 CV188531 NM_000719.7(CACNA1C):c.236C>T (p.Thr79Met) variant DOID:0060173 Timothy syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Timothy syndrome PMID:25741868|PMID:28492532 10044902 CV188531 NM_000719.7(CACNA1C):c.236C>T (p.Thr79Met) variant DOID:0110220 Brugada syndrome 3 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Brugada syndrome 3 PMID:25741868|PMID:28492532 10044902 CV188531 NM_000719.7(CACNA1C):c.236C>T (p.Thr79Met) variant DOID:0110649 long QT syndrome 8 IAGP D RGD:8554872 20240305 ClinVar ClinVar Annotator: match by term: Long qt syndrome 8 PMID:25741868|PMID:28492532 10044902 CV188531 NM_000719.7(CACNA1C):c.236C>T (p.Thr79Met) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10044903 CV188533 NM_000719.7(CACNA1C):c.257A>G (p.Tyr86Cys) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044904 CV188547 NM_000719.7(CACNA1C):c.1420G>T (p.Val474Phe) variant DOID:0110649 long QT syndrome 8 IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Long qt syndrome 8 PMID:25741868|PMID:28492532 10044904 CV188547 NM_000719.7(CACNA1C):c.1420G>T (p.Val474Phe) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10044905 CV188551 NM_000719.7(CACNA1C):c.1486C>T (p.Arg496Trp) variant DOID:0050451 Brugada syndrome IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:25741868|PMID:28492532 10044905 CV188551 NM_000719.7(CACNA1C):c.1486C>T (p.Arg496Trp) variant DOID:0060173 Timothy syndrome IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Timothy syndrome PMID:25741868|PMID:28492532 10044905 CV188551 NM_000719.7(CACNA1C):c.1486C>T (p.Arg496Trp) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10044905 CV188551 NM_000719.7(CACNA1C):c.1486C>T (p.Arg496Trp) variant DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:25741868|PMID:28492532 10044907 CV188580 NM_000719.7(CACNA1C):c.3295G>A (p.Asp1099Asn) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044908 CV188530 NM_000719.7(CACNA1C):c.202G>A (p.Ala68Thr) variant DOID:0050451 Brugada syndrome IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:23631430|PMID:25741868|PMID:27231019|PMID:28341588|PMID:28492532|PMID:31293105|PMID:31737537 10044908 CV188530 NM_000719.7(CACNA1C):c.202G>A (p.Ala68Thr) variant DOID:0060173 Timothy syndrome IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Timothy syndrome PMID:23631430|PMID:25741868|PMID:27231019|PMID:28341588|PMID:28492532|PMID:31293105|PMID:31737537 10044908 CV188530 NM_000719.7(CACNA1C):c.202G>A (p.Ala68Thr) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23631430|PMID:25741868|PMID:27231019|PMID:28341588|PMID:28492532|PMID:31293105|PMID:31737537 10044908 CV188530 NM_000719.7(CACNA1C):c.202G>A (p.Ala68Thr) variant DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:23631430|PMID:25741868|PMID:27231019|PMID:28341588|PMID:28492532|PMID:31293105|PMID:31737537 10044909 CV188519 NM_000719.7(CACNA1C):c.2T>C (p.Met1Thr) variant DOID:0060173 Timothy syndrome IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Timothy syndrome PMID:25741868|PMID:26637798|PMID:28492532 10044909 CV188519 NM_000719.7(CACNA1C):c.2T>C (p.Met1Thr) variant DOID:0110220 Brugada syndrome 3 IAGP D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Brugada syndrome 3 PMID:25741868|PMID:26637798|PMID:28492532 10044909 CV188519 NM_000719.7(CACNA1C):c.2T>C (p.Met1Thr) variant DOID:0110649 long QT syndrome 8 IAGP D RGD:8554872 20240305 ClinVar ClinVar Annotator: match by term: Long qt syndrome 8 PMID:25741868|PMID:26637798|PMID:28492532 10044909 CV188519 NM_000719.7(CACNA1C):c.2T>C (p.Met1Thr) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:26637798|PMID:28492532 10044910 CV188476 NM_201596.3(CACNB2):c.665C>T (p.Ser222Leu) variant DOID:0110221 Brugada syndrome 4 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Brugada syndrome 4 PMID:25741868|PMID:28492532 10044912 CV188483 NM_201596.3(CACNB2):c.1522G>A (p.Ala508Thr) variant DOID:0110221 Brugada syndrome 4 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Brugada syndrome 4 PMID:28492532 10044914 CV188309 NM_001232.4(CASQ2):c.809T>C (p.Ile270Thr) variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:28492532 10044916 CV188319 NM_001232.4(CASQ2):c.34T>A (p.Tyr12Asn) variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:28492532 10044917 CV188318 NM_001232.4(CASQ2):c.115G>A (p.Glu39Lys) variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:28492532|PMID:32693635|PMID:37347419 10044918 CV188640 NM_005477.3(HCN4):c.1132C>T (p.Arg378Cys) variant DOID:0110225 Brugada syndrome 8 IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Brugada syndrome 8 PMID:25741868|PMID:28492532|PMID:30196304|PMID:30847666 10044918 CV188640 NM_005477.3(HCN4):c.1132C>T (p.Arg378Cys) variant DOID:9002486 Idiopathic Generalized Epilepsy 18 IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 18 PMID:25741868|PMID:28492532|PMID:30196304|PMID:30847666 10044918 CV188640 NM_005477.3(HCN4):c.1132C>T (p.Arg378Cys) variant DOID:9003749 Sick Sinus Syndrome 2, Autosomal Dominant IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Sick sinus syndrome 2, autosomal dominant PMID:25741868|PMID:28492532|PMID:30196304|PMID:30847666 10044919 CV188630 NM_005477.3(HCN4):c.2527G>A (p.Ala843Thr) variant DOID:0110225 Brugada syndrome 8 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Brugada syndrome 8 PMID:25741868|PMID:28492532 10044920 CV188627 NM_005477.3(HCN4):c.2804C>T (p.Ser935Phe) variant DOID:0110225 Brugada syndrome 8 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Brugada syndrome 8 PMID:28492532|PMID:30578647 10044921 CV188643 NM_005477.3(HCN4):c.418G>A (p.Gly140Ser) variant DOID:0110225 Brugada syndrome 8 IAGP D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Brugada syndrome 8 PMID:25741868|PMID:28492532 10044921 CV188643 NM_005477.3(HCN4):c.418G>A (p.Gly140Ser) variant DOID:9003749 Sick Sinus Syndrome 2, Autosomal Dominant IAGP D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Sick sinus syndrome 2, autosomal dominant PMID:25741868|PMID:28492532 10044922 CV188632 NM_005477.3(HCN4):c.2458G>A (p.Gly820Arg) variant DOID:0110225 Brugada syndrome 8 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Brugada syndrome 8 PMID:28492532 10044923 CV188623 NM_005477.3(HCN4):c.3512G>T (p.Arg1171Ile) variant DOID:0110225 Brugada syndrome 8 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Brugada syndrome 8 PMID:25741868|PMID:28492532 10044924 CV188511 NM_000890.5(KCNJ5):c.314G>C (p.Gly105Ala) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044925 CV188422 NM_004387.4(NKX2-5):c.590G>C (p.Arg197Pro) variant DOID:0070125 congenital nongoitrous hypothyroidism 5 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 5 PMID:25741868|PMID:28492532 10044925 CV188422 NM_004387.4(NKX2-5):c.590G>C (p.Arg197Pro) variant DOID:0110112 atrial heart septal defect 7 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Atrial septal defect 7 with or without atrioventricular conduction defects PMID:25741868|PMID:28492532 10044925 CV188422 NM_004387.4(NKX2-5):c.590G>C (p.Arg197Pro) variant DOID:6419 tetralogy of Fallot IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Fallot tetralogy PMID:25741868|PMID:28492532 10044925 CV188422 NM_004387.4(NKX2-5):c.590G>C (p.Arg197Pro) variant DOID:9003006 Ventricular Septal Defect 3 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ventricular septal defect 3 PMID:25741868|PMID:28492532 10044925 CV188422 NM_004387.4(NKX2-5):c.590G>C (p.Arg197Pro) variant DOID:9005839 Hypoplastic Left Heart Syndrome 2 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypoplastic left heart syndrome 2 PMID:25741868|PMID:28492532 10044925 CV188422 NM_004387.4(NKX2-5):c.590G>C (p.Arg197Pro) variant DOID:9006886 Atrial Septal Defect with Atrioventricular Conduction Defects IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects PMID:25741868|PMID:28492532 10044925 CV188422 NM_004387.4(NKX2-5):c.590G>C (p.Arg197Pro) variant DOID:9007617 Conotruncal Cardiac Defects IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Conotruncal cardiac defects PMID:25741868|PMID:28492532 10044926 CV188671 NM_016492.5(RANGRF):c.249G>C (p.Glu83Asp) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:21447824|PMID:22010171|PMID:26903377|PMID:28492532|PMID:30282806 10044927 CV188692 NM_001037.5(SCN1B):c.448+189C>A variant DOID:0110222 Brugada syndrome 5 IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:24662403|PMID:28492532|PMID:31737628 10044928 CV188694 NM_001037.5(SCN1B):c.448+230C>T variant DOID:0110222 Brugada syndrome 5 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 10044931 CV188683 NM_001037.5(SCN1B):c.214C>T (p.Arg72Cys) variant DOID:0110222 Brugada syndrome 5 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:26467025|PMID:28492532 10044932 CV188686 NM_001037.5(SCN1B):c.352G>T (p.Asp118Tyr) variant DOID:0110222 Brugada syndrome 5 IAGP D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 10044933 CV188687 NM_001037.5(SCN1B):c.367G>A (p.Val123Ile) variant DOID:0110222 Brugada syndrome 5 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532|PMID:36413997 10044934 CV188689 NM_001037.5(SCN1B):c.448+45G>A variant DOID:0110222 Brugada syndrome 5 IAGP D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 10044935 CV188690 NM_001037.5(SCN1B):c.448+144A>G variant DOID:0110222 Brugada syndrome 5 IAGP D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:24981977|PMID:28492532 10044936 CV188697 NM_001037.5(SCN1B):c.448+345C>T variant DOID:0110222 Brugada syndrome 5 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 10044937 CV188703 NM_001037.5(SCN1B):c.523G>A (p.Val175Met) variant DOID:0110222 Brugada syndrome 5 IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532 10044939 CV188688 NM_001037.5(SCN1B):c.374G>A (p.Arg125His) variant DOID:0110222 Brugada syndrome 5 IAGP D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:19710327|PMID:25741868|PMID:28492532|PMID:28681755|PMID:36011376 10044939 CV188688 NM_001037.5(SCN1B):c.374G>A (p.Arg125His) variant DOID:0111302 generalized epilepsy with febrile seizures plus 1 IAGP D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 1 PMID:19710327|PMID:25741868|PMID:28492532|PMID:28681755|PMID:36011376 10044939 CV188688 NM_001037.5(SCN1B):c.374G>A (p.Arg125His) variant DOID:9002996 Familial Atrial Fibrillation 13 IAGP D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 13 PMID:19710327|PMID:25741868|PMID:28492532|PMID:28681755|PMID:36011376 10044940 CV188698 NM_001037.5(SCN1B):c.448+354G>A variant DOID:0110222 Brugada syndrome 5 IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:28492532|PMID:29572929 10044942 CV188505 NM_001040151.2(SCN3B):c.416G>A (p.Arg139Gln) variant DOID:0110224 Brugada syndrome 7 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Brugada syndrome 7 PMID:25741868|PMID:28492532 10044944 CV188496 NM_174934.4(SCN4B):c.281C>T (p.Thr94Met) variant DOID:0110651 long QT syndrome 10 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 10044946 CV188499 NM_174934.4(SCN4B):c.34G>A (p.Ala12Thr) variant DOID:0110651 long QT syndrome 10 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 10044947 CV188495 NM_174934.4(SCN4B):c.454G>A (p.Val152Ile) variant DOID:0110651 long QT syndrome 10 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:25741868 10044948 CV188718 NM_003098.3(SNTA1):c.1238-11C>T variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044949 CV188739 NM_003098.3(SNTA1):c.287G>C (p.Gly96Ala) variant DOID:0110653 long QT syndrome 12 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome 12 PMID:25741868|PMID:28492532 10044949 CV188739 NM_003098.3(SNTA1):c.287G>C (p.Gly96Ala) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10044950 CV188733 NM_003098.3(SNTA1):c.526T>C (p.Phe176Leu) variant DOID:0110653 long QT syndrome 12 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 12 PMID:25741868|PMID:28492532 10044950 CV188733 NM_003098.3(SNTA1):c.526T>C (p.Phe176Leu) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10044951 CV188730 NM_003098.3(SNTA1):c.668C>T (p.Ser223Leu) variant DOID:0110653 long QT syndrome 12 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome 12 PMID:25741868 10044952 CV188728 NM_003098.3(SNTA1):c.759T>A (p.Asp253Glu) variant DOID:0110653 long QT syndrome 12 IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Long QT syndrome 12 PMID:25741868|PMID:28492532|PMID:30369311 10044952 CV188728 NM_003098.3(SNTA1):c.759T>A (p.Asp253Glu) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532|PMID:30369311 10044953 CV188727 NM_003098.3(SNTA1):c.773G>A (p.Arg258Lys) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044955 CV188724 NM_003098.3(SNTA1):c.991C>T (p.Arg331Cys) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044957 CV188716 NM_003098.3(SNTA1):c.1256G>A (p.Arg419His) variant DOID:0110644 long QT syndrome 1 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval 10044957 CV188716 NM_003098.3(SNTA1):c.1256G>A (p.Arg419His) variant DOID:0110653 long QT syndrome 12 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Long QT syndrome 12 10044957 CV188716 NM_003098.3(SNTA1):c.1256G>A (p.Arg419His) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome 10044957 CV188716 NM_003098.3(SNTA1):c.1256G>A (p.Arg419His) variant DOID:9004730 Romano-Ward Syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome 10044958 CV188714 NM_003098.3(SNTA1):c.1300T>C (p.Trp434Arg) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044960 CV188710 NM_003098.3(SNTA1):c.1504G>A (p.Gly502Arg) variant DOID:0110653 long QT syndrome 12 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 12 PMID:28492532 10044960 CV188710 NM_003098.3(SNTA1):c.1504G>A (p.Gly502Arg) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome PMID:28492532 10044961 CV188735 NM_003098.3(SNTA1):c.403A>C (p.Ile135Leu) variant DOID:0110653 long QT syndrome 12 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome 12 PMID:25741868|PMID:28492532 10044961 CV188735 NM_003098.3(SNTA1):c.403A>C (p.Ile135Leu) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10044964 CV188783 NM_022787.4(NMNAT1):c.53A>G (p.Asn18Ser) variant DOID:0110005 Leber congenital amaurosis 9 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 9 PMID:24940029|PMID:25741868|PMID:28492532|PMID:29184169|PMID:30004997 10044964 CV188783 NM_022787.4(NMNAT1):c.53A>G (p.Asn18Ser) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:24940029|PMID:25741868|PMID:28492532|PMID:29184169|PMID:30004997 10044965 CV188797 NM_201253.3(CRB1):c.1783G>A (p.Ala595Thr) variant DOID:0110079 Leber congenital amaurosis 8 IAGP D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 8 PMID:25741868 10044965 CV188797 NM_201253.3(CRB1):c.1783G>A (p.Ala595Thr) variant DOID:0110358 retinitis pigmentosa 12 IAGP D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 12 PMID:25741868 10044967 CV188804 NM_001035.3(RYR2):c.9407G>A (p.Ser3136Asn) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10044967 CV188804 NM_001035.3(RYR2):c.9407G>A (p.Ser3136Asn) variant DOID:0060674 catecholaminergic polymorphic ventricular tachycardia IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28492532 10044967 CV188804 NM_001035.3(RYR2):c.9407G>A (p.Ser3136Asn) variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:25741868|PMID:28492532 10044968 CV188808 NM_014000.3(VCL):c.2924G>A (p.Arg975Gln) variant DOID:0110321 hypertrophic cardiomyopathy 15 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 15 PMID:25741868|PMID:27503891|PMID:27957775|PMID:28492532 10044968 CV188808 NM_014000.3(VCL):c.2924G>A (p.Arg975Gln) variant DOID:0110446 dilated cardiomyopathy 1W IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1W PMID:25741868|PMID:27503891|PMID:27957775|PMID:28492532 10044970 CV188812 NM_007078.3(LDB3):c.1799G>C (p.Arg600Pro) variant DOID:0080095 myofibrillar myopathy 4 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 4 PMID:25741868|PMID:28492532 10044971 CV188815 NM_006204.4(PDE6C):c.712C>T (p.Arg238Ter) variant DOID:9008571 Cone Dystrophy 4 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone dystrophy 4 PMID:19887631|PMID:23776498|PMID:25741868|PMID:26103963|PMID:27124789|PMID:28492532|PMID:30080950 10044972 CV188823 NM_000448.3(RAG1):c.1438A>G (p.Ser480Gly) variant DOID:0112253 combined cellular and humoral immune defects with granulomas IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency with skin granulomas PMID:24331380|PMID:25741868|PMID:28492532|PMID:31130284|PMID:36279417 10044972 CV188823 NM_000448.3(RAG1):c.1438A>G (p.Ser480Gly) variant DOID:627 severe combined immunodeficiency IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency disease PMID:24331380|PMID:25741868|PMID:28492532|PMID:31130284|PMID:36279417 10044972 CV188823 NM_000448.3(RAG1):c.1438A>G (p.Ser480Gly) variant DOID:9005774 Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity IAGP D RGD:8554872 20250729 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to partial RAG1 deficiency PMID:24331380|PMID:25741868|PMID:28492532|PMID:31130284|PMID:36279417 10044974 CV188829 NM_002335.4(LRP5):c.685C>T (p.Arg229Trp) variant DOID:0060849 osteoporosis-pseudoglioma syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Pseudoglioma with bone fragility PMID:25741868|PMID:26355662|PMID:27124789|PMID:28492532|PMID:35277167 10044974 CV188829 NM_002335.4(LRP5):c.685C>T (p.Arg229Trp) variant DOID:0060977 polycystic liver disease 4 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Polycystic liver disease 4 with or without kidney cysts PMID:25741868|PMID:26355662|PMID:27124789|PMID:28492532|PMID:35277167 10044974 CV188829 NM_002335.4(LRP5):c.685C>T (p.Arg229Trp) variant DOID:0080037 Worth syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Osteosclerosis autosomal dominant Worth type PMID:25741868|PMID:26355662|PMID:27124789|PMID:28492532|PMID:35277167 10044974 CV188829 NM_002335.4(LRP5):c.685C>T (p.Arg229Trp) variant DOID:0110937 autosomal dominant osteopetrosis 1 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: OSTEOPETROSIS, AUTOSOMAL DOMINANT, TYPE I PMID:25741868|PMID:26355662|PMID:27124789|PMID:28492532|PMID:35277167 10044974 CV188829 NM_002335.4(LRP5):c.685C>T (p.Arg229Trp) variant DOID:0111411 exudative vitreoretinopathy 4 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 4 PMID:25741868|PMID:26355662|PMID:27124789|PMID:28492532|PMID:35277167 10044975 CV188835 NM_000719.7(CACNA1C):c.169G>A (p.Asp57Asn) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10044977 CV188840 NM_020297.4(ABCC9):c.1978C>T (p.Arg660Trp) variant DOID:0060569 hypertrichotic osteochondrodysplasia Cantu type IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypertrichotic osteochondrodysplasia Cantu type PMID:25741868|PMID:28492532|PMID:31130284 10044977 CV188840 NM_020297.4(ABCC9):c.1978C>T (p.Arg660Trp) variant DOID:0070600 intellectual disability and myopathy syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability and myopathy syndrome PMID:25741868|PMID:28492532|PMID:31130284 10044977 CV188840 NM_020297.4(ABCC9):c.1978C>T (p.Arg660Trp) variant DOID:0110451 dilated cardiomyopathy 1O IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1O PMID:25741868|PMID:28492532|PMID:31130284 10044977 CV188840 NM_020297.4(ABCC9):c.1978C>T (p.Arg660Trp) variant DOID:9002065 Familial Atrial Fibrillation 12 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 12 PMID:25741868|PMID:28492532|PMID:31130284 10044978 CV188854 NM_017791.3(FLVCR2):c.998G>A (p.Arg333His) variant DOID:0061157 retinopathy-sensory neuropathy syndrome IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Posterior column ataxia with retinitis pigmentosa PMID:25741868 10044979 CV188856 NM_018418.5(SPATA7):c.288T>A (p.Cys96Ter) variant DOID:0110331 Leber congenital amaurosis 3 IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 3 PMID:19268277|PMID:22334370|PMID:23847139|PMID:25741868|PMID:26047050|PMID:26261414|PMID:26306921|PMID:26355662|PMID:28492532|PMID:31908400|PMID:33576794 10044979 CV188856 NM_018418.5(SPATA7):c.288T>A (p.Cys96Ter) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:19268277|PMID:22334370|PMID:23847139|PMID:25741868|PMID:26047050|PMID:26261414|PMID:26306921|PMID:26355662|PMID:28492532|PMID:31908400|PMID:33576794 10044979 CV188856 NM_018418.5(SPATA7):c.288T>A (p.Cys96Ter) variant DOID:14791 Leber congenital amaurosis IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:19268277|PMID:22334370|PMID:23847139|PMID:25741868|PMID:26047050|PMID:26261414|PMID:26306921|PMID:26355662|PMID:28492532|PMID:31908400|PMID:33576794 10044980 CV188858 NM_014967.5(FAN1):c.93T>G (p.Ile31Met) variant DOID:0060911 karyomegalic interstitial nephritis IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Karyomegalic interstitial nephritis PMID:25741868 10044982 CV188868 NM_014249.4(NR2E3):c.926G>T (p.Arg309Leu) variant DOID:0090059 enhanced S-cone syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Enhanced S-cone syndrome PMID:25741868 10044982 CV188868 NM_014249.4(NR2E3):c.926G>T (p.Arg309Leu) variant DOID:0110399 retinitis pigmentosa 37 IAGP D RGD:8554872 20200407 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 37 PMID:25741868 10044983 CV188870 NM_000057.4(BLM):c.205G>A (p.Glu69Lys) variant DOID:2717 Bloom syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:25741868|PMID:26467025|PMID:27124789|PMID:28492532 10044983 CV188870 NM_000057.4(BLM):c.205G>A (p.Glu69Lys) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:26467025|PMID:27124789|PMID:28492532 10044984 CV188878 NM_178170.3(NEK8):c.1401G>A (p.Trp467Ter) variant DOID:9001222 Renal-Hepatic-Pancreatic Dysplasia 2 IAGP D RGD:8554872 20180306 ClinVar ClinVar Annotator: match by term: Renal-hepatic-pancreatic dysplasia 2 PMID:25741868|PMID:26862157 10044985 CV188880 NM_000286.3(PEX12):c.334C>T (p.Gln112Ter) variant DOID:0080478 peroxisome biogenesis disorder 3A IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A (Zellweger) PMID:21031596|PMID:25326635|PMID:25741868|PMID:27124789|PMID:28492532|PMID:9090384|PMID:9632816 10044985 CV188880 NM_000286.3(PEX12):c.334C>T (p.Gln112Ter) variant DOID:0081241 peroxisome biogenesis disorder 3B IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder type 3B PMID:21031596|PMID:25326635|PMID:25741868|PMID:27124789|PMID:28492532|PMID:9090384|PMID:9632816 10044986 CV188881 NM_001004334.4(GPR179):c.349G>A (p.Asp117Asn) variant DOID:0110869 congenital stationary night blindness 1E IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness 1E PMID:25741868|PMID:26355662|PMID:28492532 10044987 CV188890 NM_017777.4(MKS1):c.417+1G>A variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16199547|PMID:19466712|PMID:24886560|PMID:25741868|PMID:26490104|PMID:26862157|PMID:28492532 10044987 CV188890 NM_017777.4(MKS1):c.417+1G>A variant DOID:0070115 Meckel syndrome 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 1 PMID:16199547|PMID:19466712|PMID:24886560|PMID:25741868|PMID:26490104|PMID:26862157|PMID:28492532 10044987 CV188890 NM_017777.4(MKS1):c.417+1G>A variant DOID:0110135 Bardet-Biedl syndrome 13 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 13 PMID:16199547|PMID:19466712|PMID:24886560|PMID:25741868|PMID:26490104|PMID:26862157|PMID:28492532 10044990 CV188906 NM_000215.4(JAK3):c.308G>A (p.Arg103His) variant DOID:627 severe combined immunodeficiency IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Severe Combined Immune Deficiency PMID:17576681|PMID:25741868|PMID:26915675|PMID:28492532|PMID:31031743|PMID:33040328|PMID:9536098 10044990 CV188906 NM_000215.4(JAK3):c.308G>A (p.Arg103His) variant DOID:9003214 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: SCID, autosomal recessive, T-negative/B-positive type PMID:17576681|PMID:25741868|PMID:26915675|PMID:28492532|PMID:31031743|PMID:33040328|PMID:9536098 10044991 CV188911 NM_005633.4(SOS1):c.2105A>G (p.Tyr702Cys) variant DOID:0080690 RASopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: RASopathy PMID:17143282|PMID:23487764|PMID:23885229|PMID:25741868|PMID:25862627|PMID:28492532 10044991 CV188911 NM_005633.4(SOS1):c.2105A>G (p.Tyr702Cys) variant DOID:9003873 Gingival Fibromatosis 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fibromatosis, gingival, 1 PMID:17143282|PMID:23487764|PMID:23885229|PMID:25741868|PMID:25862627|PMID:28492532 10044993 CV188918 NM_001378454.1(ALMS1):c.9786G>A (p.Gln3262=) variant DOID:0050473 Alstrom syndrome IAGP D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Alstrom syndrome PMID:25741868 10044994 CV188923 NM_001298.3(CNGA3):c.955T>C (p.Cys319Arg) variant DOID:0110007 achromatopsia 2 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Achromatopsia 2 PMID:25052312|PMID:25741868|PMID:26355662|PMID:28492532 10044995 CV188929 NM_012233.3(RAB3GAP1):c.1009C>T (p.Arg337Ter) variant DOID:0110716 Warburg micro syndrome 1 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Warburg micro syndrome 1 PMID:23420520|PMID:25741868|PMID:26421802|PMID:28492532|PMID:30202406 10044996 CV188930 NM_001267550.2(TTN):c.107255G>A (p.Arg35752His) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:25741868|PMID:28492532 10044996 CV188930 NM_001267550.2(TTN):c.107255G>A (p.Arg35752His) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:25741868|PMID:28492532 10044998 CV188932 NM_001267550.2(TTN):c.97315C>T (p.Gln32439Ter) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:23975875|PMID:25589632|PMID:25741868|PMID:28492532 10044998 CV188932 NM_001267550.2(TTN):c.97315C>T (p.Gln32439Ter) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23975875|PMID:25589632|PMID:25741868|PMID:28492532 10044999 CV188936 NM_001267550.2(TTN):c.74840G>A (p.Arg24947His) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:25741868 10045003 CV188954 NM_000091.5(COL4A3):c.3964G>A (p.Gly1322Ser) variant DOID:0110032 autosomal dominant Alport syndrome 3A IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal dominant Alport syndrome PMID:25741868 10045004 CV188961 NM_001244008.2(KIF1A):c.223C>T (p.Arg75Trp) variant DOID:0070039 NESCAV syndrome IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 9 PMID:25741868|PMID:27124789|PMID:28492532|PMID:33717719|PMID:33753861|PMID:34983064 10045004 CV188961 NM_001244008.2(KIF1A):c.223C>T (p.Arg75Trp) variant DOID:0070147 hereditary sensory neuropathy type 2C IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIC PMID:25741868|PMID:27124789|PMID:28492532|PMID:33717719|PMID:33753861|PMID:34983064 10045004 CV188961 NM_001244008.2(KIF1A):c.223C>T (p.Arg75Trp) variant DOID:0070647 hereditary spastic paraplegia 30A IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 30A, AUTOSOMAL DOMINANT PMID:25741868|PMID:27124789|PMID:28492532|PMID:33717719|PMID:33753861|PMID:34983064 10045004 CV188961 NM_001244008.2(KIF1A):c.223C>T (p.Arg75Trp) variant DOID:0110781 hereditary spastic paraplegia 30 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 30 PMID:25741868|PMID:27124789|PMID:28492532|PMID:33717719|PMID:33753861|PMID:34983064 10045005 CV188962 NM_001042472.3(ABHD12):c.1189C>T (p.Gln397Ter) variant DOID:0080181 PHARC syndrome IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: PHARC syndrome PMID:25741868|PMID:26141664|PMID:28492532 10045006 CV188963 NM_015338.6(ASXL1):c.453C>A (p.Ser151Arg) variant DOID:9001582 Bohring Syndrome IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bohring-Opitz syndrome PMID:25741868 10045007 CV188967 NM_172201.2(KCNE2):c.209G>A (p.Ser70Asn) variant DOID:0110648 long QT syndrome 6 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Long QT syndrome 6 PMID:25741868|PMID:28492532 10045008 CV188981 NM_001278293.3(ARL6):c.362G>A (p.Arg121His) variant DOID:0110123 Bardet-Biedl syndrome 1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 PMID:25741868|PMID:26355662|PMID:27124789|PMID:28005406|PMID:28130426|PMID:28492532|PMID:32906206|PMID:33090715|PMID:35457050 10045008 CV188981 NM_001278293.3(ARL6):c.362G>A (p.Arg121His) variant DOID:0110125 Bardet-Biedl syndrome 3 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 3 PMID:25741868|PMID:26355662|PMID:27124789|PMID:28005406|PMID:28130426|PMID:28492532|PMID:32906206|PMID:33090715|PMID:35457050 10045008 CV188981 NM_001278293.3(ARL6):c.362G>A (p.Arg121His) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa PMID:25741868|PMID:26355662|PMID:27124789|PMID:28005406|PMID:28130426|PMID:28492532|PMID:32906206|PMID:33090715|PMID:35457050 10045008 CV188981 NM_001278293.3(ARL6):c.362G>A (p.Arg121His) variant DOID:1935 Bardet-Biedl syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:25741868|PMID:26355662|PMID:27124789|PMID:28005406|PMID:28130426|PMID:28492532|PMID:32906206|PMID:33090715|PMID:35457050 10045009 CV188984 NM_016247.4(IMPG2):c.513T>G (p.Tyr171Ter) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa PMID:20673862|PMID:24876279|PMID:25741868|PMID:25999674|PMID:26355662|PMID:28492532 10045009 CV188984 NM_016247.4(IMPG2):c.513T>G (p.Tyr171Ter) variant DOID:9006690 Vitelliform Macular Dystrophy 5 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Macular dystrophy, vitelliform, 5 PMID:20673862|PMID:24876279|PMID:25741868|PMID:25999674|PMID:26355662|PMID:28492532 10045010 CV188985 NM_016247.4(IMPG2):c.380G>C (p.Arg127Pro) variant DOID:9006690 Vitelliform Macular Dystrophy 5 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Vitelliform macular dystrophy 5 PMID:25741868 10045012 CV188993 NM_025132.4(WDR19):c.2777G>T (p.Ser926Ile) variant DOID:0110089 asphyxiating thoracic dystrophy 5 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 5 PMID:25741868|PMID:26355662|PMID:28492532|PMID:29620724|PMID:32055034 10045012 CV188993 NM_025132.4(WDR19):c.2777G>T (p.Ser926Ile) variant DOID:0111121 nephronophthisis 13 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Nephronophthisis 13 PMID:25741868|PMID:26355662|PMID:28492532|PMID:29620724|PMID:32055034 10045012 CV188993 NM_025132.4(WDR19):c.2777G>T (p.Ser926Ile) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:26355662|PMID:28492532|PMID:29620724|PMID:32055034 10045013 CV188996 NM_001148.6(ANK2):c.7255G>A (p.Glu2419Lys) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532|PMID:31130284 10045014 CV189002 NM_000414.4(HSD17B4):c.526A>G (p.Asn176Asp) variant DOID:0090031 D-bifunctional protein deficiency IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Bifunctional peroxisomal enzyme deficiency PMID:16385454|PMID:23308274|PMID:25741868|PMID:27124789|PMID:28492532|PMID:30561787|PMID:34645488 10045014 CV189002 NM_000414.4(HSD17B4):c.526A>G (p.Asn176Asp) variant DOID:9003326 Perrault Syndrome 1 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Perrault syndrome 1 PMID:16385454|PMID:23308274|PMID:25741868|PMID:27124789|PMID:28492532|PMID:30561787|PMID:34645488 10045016 CV189008 NM_080680.3(COL11A2):c.1607G>A (p.Arg536Gln) variant DOID:0080575 Larsen-like syndrome B3GAT3 type IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type PMID:25741868|PMID:28492532|PMID:37644014 10045017 CV189010 NM_003322.6(TULP1):c.1256G>A (p.Arg419Gln) variant DOID:0110381 retinitis pigmentosa 14 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 14 PMID:25342620|PMID:25741868|PMID:26047050|PMID:26355662|PMID:28492532|PMID:29625443|PMID:29843741|PMID:31589614|PMID:31630094|PMID:31964843|PMID:36729443|PMID:36819107|PMID:39462066 10045017 CV189010 NM_003322.6(TULP1):c.1256G>A (p.Arg419Gln) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa PMID:25342620|PMID:25741868|PMID:26047050|PMID:26355662|PMID:28492532|PMID:29625443|PMID:29843741|PMID:31589614|PMID:31630094|PMID:31964843|PMID:36729443|PMID:36819107|PMID:39462066 10045017 CV189010 NM_003322.6(TULP1):c.1256G>A (p.Arg419Gln) variant DOID:14791 Leber congenital amaurosis IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:25342620|PMID:25741868|PMID:26047050|PMID:26355662|PMID:28492532|PMID:29625443|PMID:29843741|PMID:31589614|PMID:31630094|PMID:31964843|PMID:36729443|PMID:36819107|PMID:39462066 10045017 CV189010 NM_003322.6(TULP1):c.1256G>A (p.Arg419Gln) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25342620|PMID:25741868|PMID:26047050|PMID:26355662|PMID:28492532|PMID:29625443|PMID:29843741|PMID:31589614|PMID:31630094|PMID:31964843|PMID:36729443|PMID:36819107|PMID:39462066 10045018 CV189022 NM_198428.3(BBS9):c.263C>A (p.Ser88Ter) variant DOID:1935 Bardet-Biedl syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:16380913|PMID:20177705|PMID:25741868|PMID:26355662|PMID:28492532 10045019 CV189023 NM_000443.4(ABCB4):c.2906G>A (p.Arg969His) variant DOID:0070223 progressive familial intrahepatic cholestasis 3 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: MDR3 deficiency PMID:25741868 10045019 CV189023 NM_000443.4(ABCB4):c.2906G>A (p.Arg969His) variant DOID:0070229 intrahepatic cholestasis of pregnancy 3 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Cholestasis, intrahepatic, of pregnancy, 3 PMID:25741868 10045020 CV189028 NM_017780.4(CHD7):c.3613A>G (p.Ile1205Val) variant DOID:0050834 CHARGE syndrome IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: CHARGE association PMID:25741868|PMID:28492532 10045020 CV189028 NM_017780.4(CHD7):c.3613A>G (p.Ile1205Val) variant DOID:0090084 hypogonadotropic hypogonadism 5 with or without anosmia IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 5 with or without anosmia PMID:25741868|PMID:28492532 10045020 CV189028 NM_017780.4(CHD7):c.3613A>G (p.Ile1205Val) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10045020 CV189028 NM_017780.4(CHD7):c.3613A>G (p.Ile1205Val) variant DOID:9004226 Hittner Hirsch Kreh Syndrome IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome PMID:25741868|PMID:28492532 10045022 CV189035 NM_014846.4(WASHC5):c.1669G>A (p.Ala557Thr) variant DOID:0110823 hereditary spastic paraplegia 8 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 PMID:25741868 10045023 CV189038 NM_020944.3(GBA2):c.2548C>T (p.Arg850Cys) variant DOID:0110798 hereditary spastic paraplegia 46 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 46 PMID:25741868 10045024 CV189039 NM_001701.4(BAAT):c.761C>T (p.Thr254Met) variant DOID:0061180 familial hypercholanemia 3 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Bile acid conjugation defect 1 PMID:25741868 10045024 CV189039 NM_001701.4(BAAT):c.761C>T (p.Thr254Met) variant DOID:0061181 familial hypercholanemia 1 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Hypercholanemia, familial 1 PMID:25741868 10045025 CV189047 NM_004006.3(DMD):c.2117C>A (p.Pro706Gln) variant DOID:0110461 X-linked dilated cardiomyopathy IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 3B PMID:25741868|PMID:28492532 10045025 CV189047 NM_004006.3(DMD):c.2117C>A (p.Pro706Gln) variant DOID:11723 Duchenne muscular dystrophy IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:25741868|PMID:28492532 10045026 CV189056 NM_033641.4(COL4A6):c.5071T>G (p.Ter1691Glu) variant DOID:0111740 X-linked deafness 6 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: COL4A6-related condition PMID:25741868 10045028 CV189094 NM_001163809.2(WDR81):c.3286C>T (p.Gln1096Ter) variant DOID:0070557 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 PMID:25741868|PMID:28556411 10045028 CV189094 NM_001163809.2(WDR81):c.3286C>T (p.Gln1096Ter) variant DOID:9009189 Congenital Hydrocephalus 3, with Brain Anomalies IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Hydrocephalus, congenital, 3, with brain anomalies PMID:25741868|PMID:28556411 10045029 CV189120 NM_001379500.1(COL18A1):c.2743C>T (p.Arg915Ter) variant DOID:9002766 Knobloch Syndrome Type I IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Knobloch syndrome 1 PMID:12415512|PMID:21862674|PMID:25456301|PMID:25741868|PMID:28492532 10045030 CV189138 NM_000823.4(GHRHR):c.458C>A (p.Ala153Asp) variant DOID:0060874 isolated growth hormone deficiency type IB IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: DWARFISM OF SINDH PMID:25741868|PMID:27124789|PMID:31130284|PMID:31231873 10045031 CV189143 NM_177924.5(ASAH1):c.505T>C (p.Trp169Arg) variant DOID:0050464 Farber lipogranulomatosis IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Farber lipogranulomatosis PMID:25741868|PMID:26945816 10045032 CV189167 NC_012920.1(MT-ATP6):m.8969G>A variant DOID:0111184 myopathy, lactic acidosis, and sideroblastic anemia 3 IAGP D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 3 PMID:25037980|PMID:27812026|PMID:29350304 10045032 CV189167 NC_012920.1(MT-ATP6):m.8969G>A variant DOID:3687 MELAS syndrome IAGP D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Juvenile myopathy, encephalopathy, lactic acidosis AND stroke PMID:25037980|PMID:27812026|PMID:29350304 10045032 CV189167 NC_012920.1(MT-ATP6):m.8969G>A variant DOID:700 mitochondrial metabolism disease IAGP D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Mitochondrial disease PMID:25037980|PMID:27812026|PMID:29350304 10045032 CV189167 NC_012920.1(MT-ATP6):m.8969G>A variant DOID:705 Leber hereditary optic neuropathy IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Leber optic atrophy PMID:25037980|PMID:27812026|PMID:29350304 10045033 CV189174 NM_015662.3(IFT172):c.770T>C (p.Leu257Pro) variant DOID:0110363 retinitis pigmentosa 71 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 71 PMID:25168386 10045034 CV189175 NM_015662.3(IFT172):c.3112-5T>A variant DOID:0110363 retinitis pigmentosa 71 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 71 PMID:25168386 10045035 CV188766 NM_145200.5(CABP4):c.646C>T (p.Arg216Ter) variant DOID:0050572 cone-rod dystrophy IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:19074807|PMID:23714322|PMID:25307992|PMID:25741868|PMID:28492532|PMID:29525873|PMID:29706639|PMID:30718709 10045035 CV188766 NM_145200.5(CABP4):c.646C>T (p.Arg216Ter) variant DOID:13911 achromatopsia IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Achromatopsia PMID:19074807|PMID:23714322|PMID:25307992|PMID:25741868|PMID:28492532|PMID:29525873|PMID:29706639|PMID:30718709 10045035 CV188766 NM_145200.5(CABP4):c.646C>T (p.Arg216Ter) variant DOID:9004066 Congenital Stationary Night Blindness 2B IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cone-rod synaptic disorder, congenital nonprogressive PMID:19074807|PMID:23714322|PMID:25307992|PMID:25741868|PMID:28492532|PMID:29525873|PMID:29706639|PMID:30718709 10045036 CV188767 NM_145200.5(CABP4):c.81_82insA (p.Pro28fs) variant DOID:9004066 Congenital Stationary Night Blindness 2B IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Cone-rod synaptic disorder, congenital nonprogressive PMID:20157620|PMID:23099293|PMID:25741868 10045039 CV188775 NM_144499.3(GNAT1):c.598C>G (p.Gln200Glu) variant DOID:0110715 congenital stationary night blindness autosomal dominant 3 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness, autosomal dominant 3 PMID:17584859 10045040 CV188776 NM_144499.3(GNAT1):c.386A>G (p.Asp129Gly) variant DOID:0110714 congenital stationary night blindness 1G IAGP D RGD:8554872 20180703 ClinVar ClinVar Annotator: match by term: Night blindness, congenital stationary, type 1g PMID:22190596 10045042 CV188780 NM_198576.4(AGRN):c.2457G>C (p.Gly819=) variant DOID:0110657 congenital myasthenic syndrome 8 IAGP D RGD:8554872 20250805 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 8 PMID:25741868|PMID:28492532 10045043 CV188781 NM_015102.5(NPHP4):c.4075C>T (p.Arg1359Trp) variant DOID:0111115 nephronophthisis 4 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Nephronophthisis 4 PMID:25741868|PMID:28492532 10045043 CV188781 NM_015102.5(NPHP4):c.4075C>T (p.Arg1359Trp) variant DOID:12712 nephronophthisis IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:25741868|PMID:28492532 10045043 CV188781 NM_015102.5(NPHP4):c.4075C>T (p.Arg1359Trp) variant DOID:9000511 Senior-Loken Syndrome 4 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 4 PMID:25741868|PMID:28492532 10045044 CV188782 NM_015102.5(NPHP4):c.3160C>T (p.Arg1054Cys) variant DOID:0111112 nephronophthisis 1 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:25741868|PMID:27124789|PMID:28492532|PMID:30120289|PMID:31589614|PMID:31964843 10045044 CV188782 NM_015102.5(NPHP4):c.3160C>T (p.Arg1054Cys) variant DOID:0111115 nephronophthisis 4 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Nephronophthisis 4 PMID:25741868|PMID:27124789|PMID:28492532|PMID:30120289|PMID:31589614|PMID:31964843 10045044 CV188782 NM_015102.5(NPHP4):c.3160C>T (p.Arg1054Cys) variant DOID:12712 nephronophthisis IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:25741868|PMID:27124789|PMID:28492532|PMID:30120289|PMID:31589614|PMID:31964843 10045044 CV188782 NM_015102.5(NPHP4):c.3160C>T (p.Arg1054Cys) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:27124789|PMID:28492532|PMID:30120289|PMID:31589614|PMID:31964843 10045044 CV188782 NM_015102.5(NPHP4):c.3160C>T (p.Arg1054Cys) variant DOID:9000511 Senior-Loken Syndrome 4 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 4 PMID:25741868|PMID:27124789|PMID:28492532|PMID:30120289|PMID:31589614|PMID:31964843 10045047 CV188786 NM_001625.4(AK2):c.545C>A (p.Ala182Asp) variant DOID:0060020 reticular dysgenesis IAGP D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Reticular dysgenesis PMID:25741868 10045049 CV188788 NM_000329.3(RPE65):c.1366del (p.Glu456fs) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa PMID:25741868|PMID:26355662 10045052 CV188791 NM_000350.3(ABCA4):c.2815G>T (p.Glu939Ter) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa PMID:25741868|PMID:26355662 10045054 CV188793 NM_170707.4(LMNA):c.1774G>A (p.Gly592Arg) variant DOID:0050440 familial partial lipodystrophy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Lipodystrophy, reverse partial PMID:25741868|PMID:26733286|PMID:28492532|PMID:29620724 10045054 CV188793 NM_170707.4(LMNA):c.1774G>A (p.Gly592Arg) variant DOID:0050539 Charcot-Marie-Tooth disease type 2 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:25741868|PMID:26733286|PMID:28492532|PMID:29620724 10045054 CV188793 NM_170707.4(LMNA):c.1774G>A (p.Gly592Arg) variant DOID:0070202 familial partial lipodystrophy type 2 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Familial partial lipodystrophy, Dunnigan type PMID:25741868|PMID:26733286|PMID:28492532|PMID:29620724 10045054 CV188793 NM_170707.4(LMNA):c.1774G>A (p.Gly592Arg) variant DOID:0070247 autosomal dominant Emery-Dreifuss muscular dystrophy 2 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, proximal, type 1B PMID:25741868|PMID:26733286|PMID:28492532|PMID:29620724 10045054 CV188793 NM_170707.4(LMNA):c.1774G>A (p.Gly592Arg) variant DOID:0070248 autosomal recessive Emery-Dreifuss muscular dystrophy 3 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 3, autosomal recessive PMID:25741868|PMID:26733286|PMID:28492532|PMID:29620724 10045054 CV188793 NM_170707.4(LMNA):c.1774G>A (p.Gly592Arg) variant DOID:0070370 restrictive dermopathy 2 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Restrictive dermopathy 2 PMID:25741868|PMID:26733286|PMID:28492532|PMID:29620724 10045054 CV188793 NM_170707.4(LMNA):c.1774G>A (p.Gly592Arg) variant DOID:0081128 mandibuloacral dysplasia type A lipodystrophy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Mandibuloacral dysplasia with type A lipodystrophy PMID:25741868|PMID:26733286|PMID:28492532|PMID:29620724 10045054 CV188793 NM_170707.4(LMNA):c.1774G>A (p.Gly592Arg) variant DOID:0110156 Charcot-Marie-Tooth disease type 2B1 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B1 PMID:25741868|PMID:26733286|PMID:28492532|PMID:29620724 10045054 CV188793 NM_170707.4(LMNA):c.1774G>A (p.Gly592Arg) variant DOID:0110425 dilated cardiomyopathy 1A IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT 1 PMID:25741868|PMID:26733286|PMID:28492532|PMID:29620724 10045054 CV188793 NM_170707.4(LMNA):c.1774G>A (p.Gly592Arg) variant DOID:0110640 congenital muscular dystrophy due to LMNA mutation IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy due to LMNA mutation PMID:25741868|PMID:26733286|PMID:28492532|PMID:29620724 10045054 CV188793 NM_170707.4(LMNA):c.1774G>A (p.Gly592Arg) variant DOID:0111584 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome PMID:25741868|PMID:26733286|PMID:28492532|PMID:29620724 10045054 CV188793 NM_170707.4(LMNA):c.1774G>A (p.Gly592Arg) variant DOID:11726 Emery-Dreifuss muscular dystrophy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy PMID:25741868|PMID:26733286|PMID:28492532|PMID:29620724 10045054 CV188793 NM_170707.4(LMNA):c.1774G>A (p.Gly592Arg) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE PMID:25741868|PMID:26733286|PMID:28492532|PMID:29620724 10045054 CV188793 NM_170707.4(LMNA):c.1774G>A (p.Gly592Arg) variant DOID:3911 progeria IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Hutchinson-Gilford syndrome PMID:25741868|PMID:26733286|PMID:28492532|PMID:29620724 10045054 CV188793 NM_170707.4(LMNA):c.1774G>A (p.Gly592Arg) variant DOID:9003205 Heart-Hand Syndrome, Slovenian Type IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Heart-hand syndrome, Slovenian type PMID:25741868|PMID:26733286|PMID:28492532|PMID:29620724 10045055 CV188794 NM_002529.4(NTRK1):c.1946G>A (p.Arg649Gln) variant DOID:0070146 hereditary sensory neuropathy type 4 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Hereditary Sensory and Autonomic Neuropathy Type IV PMID:10330344|PMID:11159935|PMID:11719521|PMID:22653642|PMID:25741868|PMID:28328124|PMID:28492532|PMID:29770739 10045056 CV188795 NM_198053.3(CD247):c.58+8C>T variant DOID:0111942 immunodeficiency 25 IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Immunodeficiency due to defect in cd3-zeta PMID:25741868|PMID:28492532 10045057 CV188796 NM_201253.3(CRB1):c.1180T>C (p.Cys394Arg) variant DOID:0110358 retinitis pigmentosa 12 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 12 PMID:24265693|PMID:25741868|PMID:26355662|PMID:28492532 10045057 CV188796 NM_201253.3(CRB1):c.1180T>C (p.Cys394Arg) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa PMID:24265693|PMID:25741868|PMID:26355662|PMID:28492532 10045058 CV188798 NM_002838.5(PTPRC):c.3545T>C (p.Leu1182Ser) variant DOID:0061074 severe combined immunodeficiency 105 IAGP D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Immunodeficiency 105 PMID:25741868|PMID:26915675|PMID:28492532 10045058 CV188798 NM_002838.5(PTPRC):c.3545T>C (p.Leu1182Ser) variant DOID:0090014 severe combined immunodeficiency 104 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive PMID:25741868|PMID:26915675|PMID:28492532 10045058 CV188798 NM_002838.5(PTPRC):c.3545T>C (p.Leu1182Ser) variant DOID:1883 hepatitis C IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: HCV, SUSCEPTIBILITY TO PMID:25741868|PMID:26915675|PMID:28492532 10045061 CV188802 NM_001103.4(ACTN2):c.427A>G (p.Ile143Val) variant DOID:0110428 dilated cardiomyopathy 1AA IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1AA PMID:25741868|PMID:28492532 10045062 CV188803 NM_001035.3(RYR2):c.659G>A (p.Gly220Glu) variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:25741868|PMID:28492532 10045063 CV188805 NM_001035.3(RYR2):c.10046C>T (p.Ser3349Leu) variant DOID:0050431 arrhythmogenic right ventricular cardiomyopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, ARVC PMID:12093772|PMID:12459180|PMID:22787013|PMID:24033266|PMID:25741868|PMID:26112015|PMID:27646203|PMID:27650965|PMID:28087566|PMID:28492532|PMID:29477366|PMID:31931689 10045063 CV188805 NM_001035.3(RYR2):c.10046C>T (p.Ser3349Leu) variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:12093772|PMID:12459180|PMID:22787013|PMID:24033266|PMID:25741868|PMID:26112015|PMID:27646203|PMID:27650965|PMID:28087566|PMID:28492532|PMID:29477366|PMID:31931689 10045064 CV188806 NM_001033855.3(DCLRE1C):c.403G>A (p.Gly135Arg) variant DOID:0090012 severe combined immunodeficiency with sensitivity to ionizing radiation IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to DCLRE1C deficiency PMID:25741868 10045065 CV188807 NM_032578.4(MYPN):c.935C>T (p.Ser312Phe) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:24033266|PMID:25741868 10045066 CV188809 NM_006721.4(ADK):c.741T>A (p.Phe247Leu) variant DOID:0111038 hypermethioninemia due to adenosine kinase deficiency IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Hypermethioninemia due to adenosine kinase deficiency PMID:25741868 10045069 CV188814 NM_014391.3(ANKRD1):c.790C>T (p.Arg264Cys) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy PMID:25741868|PMID:28492532 10045070 CV188816 NM_006204.4(PDE6C):c.939+5G>A variant DOID:9008571 Cone Dystrophy 4 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Cone dystrophy 4 PMID:17576681|PMID:25741868|PMID:27124789|PMID:28492532|PMID:30080950|PMID:32552793|PMID:9536098 10045073 CV188819 NM_000195.5(HPS1):c.1395G>A (p.Trp465Ter) variant DOID:0060539 Hermansky-Pudlak syndrome 1 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 1 PMID:25741868 10045074 CV188820 NM_000392.5(ABCC2):c.2273G>T (p.Gly758Val) variant DOID:12308 Dubin-Johnson syndrome IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Dubin-Johnson syndrome PMID:25741868|PMID:27124789|PMID:31544333|PMID:34858902 10045075 CV188821 NM_004281.4(BAG3):c.1630G>C (p.Asp544His) variant DOID:0080097 myofibrillar myopathy 6 IAGP D RGD:8554872 20180619 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy, BAG3-related PMID:25741868|PMID:28492532 10045081 CV188830 NM_000260.4(MYO7A):c.2489G>A (p.Arg830His) variant DOID:0050439 Usher syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness PMID:25741868|PMID:27766948|PMID:28492532|PMID:36515421|PMID:38927702 10045081 CV188830 NM_000260.4(MYO7A):c.2489G>A (p.Arg830His) variant DOID:0070655 Usher syndrome type 1B IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1B PMID:25741868|PMID:27766948|PMID:28492532|PMID:36515421|PMID:38927702 10045081 CV188830 NM_000260.4(MYO7A):c.2489G>A (p.Arg830His) variant DOID:0110477 autosomal recessive nonsyndromic deafness 2 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 2 PMID:25741868|PMID:27766948|PMID:28492532|PMID:36515421|PMID:38927702 10045081 CV188830 NM_000260.4(MYO7A):c.2489G>A (p.Arg830His) variant DOID:0110543 autosomal dominant nonsyndromic deafness 11 IAGP D RGD:8554872 20250723 ClinVar ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 11 PMID:25741868|PMID:27766948|PMID:28492532|PMID:36515421|PMID:38927702 10045081 CV188830 NM_000260.4(MYO7A):c.2489G>A (p.Arg830His) variant DOID:0110826 Usher syndrome type 1 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1 PMID:25741868|PMID:27766948|PMID:28492532|PMID:36515421|PMID:38927702 10045082 CV188831 NM_014679.5(CEP57):c.89G>C (p.Arg30Pro) variant DOID:0080142 mosaic variegated aneuploidy syndrome 2 IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 2 PMID:25741868 10045083 CV188832 NM_031433.4(MFRP):c.746G>A (p.Trp249Ter) variant DOID:0060837 isolated microphthalmia 5 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:12140190|PMID:15976030|PMID:20361016|PMID:25741868|PMID:28492532|PMID:32996714 10045084 CV188833 NM_031433.4(MFRP):c.574G>C (p.Glu192Gln) variant DOID:0060837 isolated microphthalmia 5 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:25741868 10045085 CV188834 NM_213655.5(WNK1):c.2152C>T (p.Arg718Cys) variant DOID:0070155 hereditary sensory and autonomic neuropathy type 2A IAGP D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIA PMID:25741868|PMID:27671536|PMID:28492532 10045085 CV188834 NM_213655.5(WNK1):c.2152C>T (p.Arg718Cys) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:27671536|PMID:28492532 10045086 CV188837 NM_020661.4(AICDA):c.169G>A (p.Val57Met) variant DOID:0060758 immunodeficiency with hyper-IgM type 2 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Hyper-IgM syndrome type 2 PMID:25741868|PMID:26915675|PMID:30697212 10045088 CV188839 NM_020297.4(ABCC9):c.2815C>T (p.Arg939Trp) variant DOID:0110451 dilated cardiomyopathy 1O IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1O PMID:25741868|PMID:28492532 10045089 CV188841 NM_001005242.3(PKP2):c.1719G>C (p.Gln573His) variant DOID:0110077 arrhythmogenic right ventricular dysplasia 9 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 PMID:25741868 10045091 CV188843 NM_003482.4(KMT2D):c.11395C>T (p.Gln3799Ter) variant DOID:9001255 Kabuki Syndrome 1 IAGP D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868 10045092 CV188844 NM_006009.4(TUBA1A):c.596A>G (p.Asp199Gly) variant DOID:0112227 tubulinopathy IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Tubulinopathy PMID:25741868|PMID:30744660 10045095 CV188847 NM_000059.4(BRCA2):c.10102T>C (p.Ser3368Pro) variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:26467025|PMID:28492532|PMID:37306523 10045095 CV188847 NM_000059.4(BRCA2):c.10102T>C (p.Ser3368Pro) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:26467025|PMID:28492532|PMID:37306523 10045096 CV188848 NM_024570.4(RNASEH2B):c.356A>G (p.Asp119Gly) variant DOID:9001350 Aicardi-Goutieres Syndrome 1 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 PMID:25741868 10045096 CV188848 NM_024570.4(RNASEH2B):c.356A>G (p.Asp119Gly) variant DOID:9003907 Aicardi-Goutieres Syndrome 2 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 2 PMID:25741868 10045099 CV188851 NM_005249.5(FOXG1):c.694A>T (p.Asn232Tyr) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:25741868|PMID:34837432 10045100 CV188852 NM_015915.5(ATL1):c.988A>T (p.Lys330Ter) variant DOID:0110791 hereditary spastic paraplegia 3A IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 3A PMID:25741868 10045102 CV188855 NM_001193315.2(VIPAS39):c.136G>A (p.Val46Met) variant DOID:0111354 arthrogryposis, renal dysfunction, and cholestasis 2 IAGP D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: VIPAS39-related condition PMID:25741868|PMID:28492532 10045104 CV188860 NM_144508.5(KNL1):c.3634G>A (p.Ala1212Thr) variant DOID:0070291 primary autosomal recessive microcephaly 4 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Primary autosomal recessive microcephaly 4 PMID:25741868 10045106 CV188862 NM_000070.3(CAPN3):c.2329A>G (p.Ile777Val) variant DOID:0110275 autosomal recessive limb-girdle muscular dystrophy type 2A IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2A PMID:25741868|PMID:27671536|PMID:28492532 10045109 CV188865 NM_014249.4(NR2E3):c.119-2A>C variant DOID:0050572 cone-rod dystrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy PMID:10655056|PMID:15459973|PMID:16199547|PMID:18294254|PMID:19273793|PMID:19718767|PMID:21217109|PMID:21686439|PMID:23591405|PMID:23989059|PMID:24474277|PMID:25079116|PMID:25097241|PMID:25703721|PMID:25741868|PMID:26894784|PMID:27522502|PMID:27573156|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28771251|PMID:29193891|PMID:29343940|PMID:29431110|PMID:30324420|PMID:30718709|PMID:31130284|PMID:31306293|PMID:31456290|PMID:31589614|PMID:31725702|PMID:31816670|PMID:31877679|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32531858|PMID:32552793|PMID:32581362|PMID:32679203|PMID:33138239|PMID:33749171|PMID:34426522|PMID:34906470|PMID:35113758|PMID:36460718|PMID:36819107|PMID:36909829 10045109 CV188865 NM_014249.4(NR2E3):c.119-2A>C variant DOID:0050633 ocular albinism 1 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Ocular albinism PMID:10655056|PMID:15459973|PMID:16199547|PMID:18294254|PMID:19273793|PMID:19718767|PMID:21217109|PMID:21686439|PMID:23591405|PMID:23989059|PMID:24474277|PMID:25079116|PMID:25097241|PMID:25703721|PMID:25741868|PMID:26894784|PMID:27522502|PMID:27573156|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28771251|PMID:29193891|PMID:29343940|PMID:29431110|PMID:30324420|PMID:30718709|PMID:31130284|PMID:31306293|PMID:31456290|PMID:31589614|PMID:31725702|PMID:31816670|PMID:31877679|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32531858|PMID:32552793|PMID:32581362|PMID:32679203|PMID:33138239|PMID:33749171|PMID:34426522|PMID:34906470|PMID:35113758|PMID:36460718|PMID:36819107|PMID:36909829 10045109 CV188865 NM_014249.4(NR2E3):c.119-2A>C variant DOID:0090059 enhanced S-cone syndrome IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: NR2E3-related disorder PMID:10655056|PMID:15459973|PMID:16199547|PMID:18294254|PMID:19273793|PMID:19718767|PMID:21217109|PMID:21686439|PMID:23591405|PMID:23989059|PMID:24474277|PMID:25079116|PMID:25097241|PMID:25703721|PMID:25741868|PMID:26894784|PMID:27522502|PMID:27573156|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28771251|PMID:29193891|PMID:29343940|PMID:29431110|PMID:30324420|PMID:30718709|PMID:31130284|PMID:31306293|PMID:31456290|PMID:31589614|PMID:31725702|PMID:31816670|PMID:31877679|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32531858|PMID:32552793|PMID:32581362|PMID:32679203|PMID:33138239|PMID:33749171|PMID:34426522|PMID:34906470|PMID:35113758|PMID:36460718|PMID:36819107|PMID:36909829 10045109 CV188865 NM_014249.4(NR2E3):c.119-2A>C variant DOID:0110399 retinitis pigmentosa 37 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 37 PMID:10655056|PMID:15459973|PMID:16199547|PMID:18294254|PMID:19273793|PMID:19718767|PMID:21217109|PMID:21686439|PMID:23591405|PMID:23989059|PMID:24474277|PMID:25079116|PMID:25097241|PMID:25703721|PMID:25741868|PMID:26894784|PMID:27522502|PMID:27573156|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28771251|PMID:29193891|PMID:29343940|PMID:29431110|PMID:30324420|PMID:30718709|PMID:31130284|PMID:31306293|PMID:31456290|PMID:31589614|PMID:31725702|PMID:31816670|PMID:31877679|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32531858|PMID:32552793|PMID:32581362|PMID:32679203|PMID:33138239|PMID:33749171|PMID:34426522|PMID:34906470|PMID:35113758|PMID:36460718|PMID:36819107|PMID:36909829 10045109 CV188865 NM_014249.4(NR2E3):c.119-2A>C variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10655056|PMID:15459973|PMID:16199547|PMID:18294254|PMID:19273793|PMID:19718767|PMID:21217109|PMID:21686439|PMID:23591405|PMID:23989059|PMID:24474277|PMID:25079116|PMID:25097241|PMID:25703721|PMID:25741868|PMID:26894784|PMID:27522502|PMID:27573156|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28771251|PMID:29193891|PMID:29343940|PMID:29431110|PMID:30324420|PMID:30718709|PMID:31130284|PMID:31306293|PMID:31456290|PMID:31589614|PMID:31725702|PMID:31816670|PMID:31877679|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32531858|PMID:32552793|PMID:32581362|PMID:32679203|PMID:33138239|PMID:33749171|PMID:34426522|PMID:34906470|PMID:35113758|PMID:36460718|PMID:36819107|PMID:36909829 10045109 CV188865 NM_014249.4(NR2E3):c.119-2A>C variant DOID:630 genetic disease IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10655056|PMID:15459973|PMID:16199547|PMID:18294254|PMID:19273793|PMID:19718767|PMID:21217109|PMID:21686439|PMID:23591405|PMID:23989059|PMID:24474277|PMID:25079116|PMID:25097241|PMID:25703721|PMID:25741868|PMID:26894784|PMID:27522502|PMID:27573156|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28771251|PMID:29193891|PMID:29343940|PMID:29431110|PMID:30324420|PMID:30718709|PMID:31130284|PMID:31306293|PMID:31456290|PMID:31589614|PMID:31725702|PMID:31816670|PMID:31877679|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32531858|PMID:32552793|PMID:32581362|PMID:32679203|PMID:33138239|PMID:33749171|PMID:34426522|PMID:34906470|PMID:35113758|PMID:36460718|PMID:36819107|PMID:36909829 10045109 CV188865 NM_014249.4(NR2E3):c.119-2A>C variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10655056|PMID:15459973|PMID:16199547|PMID:18294254|PMID:19273793|PMID:19718767|PMID:21217109|PMID:21686439|PMID:23591405|PMID:23989059|PMID:24474277|PMID:25079116|PMID:25097241|PMID:25703721|PMID:25741868|PMID:26894784|PMID:27522502|PMID:27573156|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28771251|PMID:29193891|PMID:29343940|PMID:29431110|PMID:30324420|PMID:30718709|PMID:31130284|PMID:31306293|PMID:31456290|PMID:31589614|PMID:31725702|PMID:31816670|PMID:31877679|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32531858|PMID:32552793|PMID:32581362|PMID:32679203|PMID:33138239|PMID:33749171|PMID:34426522|PMID:34906470|PMID:35113758|PMID:36460718|PMID:36819107|PMID:36909829 10045109 CV188865 NM_014249.4(NR2E3):c.119-2A>C variant DOID:9000343 Vision Disorders IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Visual impairment PMID:10655056|PMID:15459973|PMID:16199547|PMID:18294254|PMID:19273793|PMID:19718767|PMID:21217109|PMID:21686439|PMID:23591405|PMID:23989059|PMID:24474277|PMID:25079116|PMID:25097241|PMID:25703721|PMID:25741868|PMID:26894784|PMID:27522502|PMID:27573156|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28771251|PMID:29193891|PMID:29343940|PMID:29431110|PMID:30324420|PMID:30718709|PMID:31130284|PMID:31306293|PMID:31456290|PMID:31589614|PMID:31725702|PMID:31816670|PMID:31877679|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32531858|PMID:32552793|PMID:32581362|PMID:32679203|PMID:33138239|PMID:33749171|PMID:34426522|PMID:34906470|PMID:35113758|PMID:36460718|PMID:36819107|PMID:36909829 10045110 CV188866 NM_014249.4(NR2E3):c.373C>T (p.Arg125Ter) variant DOID:0090059 enhanced S-cone syndrome IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Enhanced S-cone syndrome PMID:15459973|PMID:23039133|PMID:25741868|PMID:26355662|PMID:27522502|PMID:28492532 10045110 CV188866 NM_014249.4(NR2E3):c.373C>T (p.Arg125Ter) variant DOID:0110399 retinitis pigmentosa 37 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 37 PMID:15459973|PMID:23039133|PMID:25741868|PMID:26355662|PMID:27522502|PMID:28492532 10045110 CV188866 NM_014249.4(NR2E3):c.373C>T (p.Arg125Ter) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:15459973|PMID:23039133|PMID:25741868|PMID:26355662|PMID:27522502|PMID:28492532 10045111 CV188867 NM_014249.4(NR2E3):c.646G>A (p.Gly216Ser) variant DOID:0090059 enhanced S-cone syndrome IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Enhanced S-cone syndrome PMID:25741868|PMID:26355662|PMID:28492532|PMID:30718709|PMID:32679203|PMID:32901917 10045111 CV188867 NM_014249.4(NR2E3):c.646G>A (p.Gly216Ser) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:26355662|PMID:28492532|PMID:30718709|PMID:32679203|PMID:32901917 10045111 CV188867 NM_014249.4(NR2E3):c.646G>A (p.Gly216Ser) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:26355662|PMID:28492532|PMID:30718709|PMID:32679203|PMID:32901917 10045113 CV188871 NM_004380.3(CREBBP):c.4890+2T>C variant DOID:1933 Rubinstein-Taybi syndrome IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: CREBBP-related condition PMID:25741868 10045116 CV188874 NM_031885.5(BBS2):c.508G>A (p.Asp170Asn) variant DOID:0110124 Bardet-Biedl syndrome 2 IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 2 PMID:25741868 10045119 CV188877 NM_000382.3(ALDH3A2):c.623T>C (p.Leu208Pro) variant DOID:14501 Sjogren-Larsson syndrome IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Ichthyosis, spastic neurologic disorder, and oligophrenia PMID:25741868 10045121 CV188882 NM_021939.4(FKBP10):c.354del (p.Ile118fs) variant DOID:12347 osteogenesis imperfecta IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:25741868 10045122 CV188883 NM_021939.4(FKBP10):c.917+53G>T variant DOID:0110351 osteogenesis imperfecta type 11 IAGP D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta, type XI PMID:25741868 10045128 CV188889 NM_017777.4(MKS1):c.1066C>T (p.Gln356Ter) variant DOID:0050778 Meckel syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Meckel syndrome PMID:25741868 10045129 CV188891 NM_003835.4(RGS9):c.704C>T (p.Ala235Val) variant DOID:630 genetic disease IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 10045130 CV188893 NM_019613.4(WDR45B):c.673C>T (p.Arg225Ter) variant DOID:9009173 Neurodevelopmental Disorder with Spastic Quadriplegia and Brain Abnormalities with or without Seizures IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures PMID:25741868|PMID:27431290 10045131 CV188894 NM_001943.5(DSG2):c.1376A>G (p.Tyr459Cys) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23396983|PMID:25351510|PMID:25741868|PMID:26112015|PMID:28492532 10045131 CV188894 NM_001943.5(DSG2):c.1376A>G (p.Tyr459Cys) variant DOID:0110081 arrhythmogenic right ventricular dysplasia 10 IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10 PMID:23396983|PMID:25351510|PMID:25741868|PMID:26112015|PMID:28492532 10045132 CV188895 NM_001384474.1(LOXHD1):c.4530+107A>G variant DOID:0110525 autosomal recessive nonsyndromic deafness 77 IAGP D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 77 PMID:25741868 10045133 CV188896 NM_001353214.3(DYM):c.2025+1G>A variant DOID:0111167 Dyggve-Melchior-Clausen disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Dyggve-Melchior-Clausen syndrome PMID:25741868 10045139 CV188903 NM_001136035.4(TRMT1):c.967C>T (p.Arg323Cys) variant DOID:0081229 autosomal recessive intellectual developmental disorder 68 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 68 PMID:25741868 10045141 CV188905 NM_000215.4(JAK3):c.913C>T (p.Gln305Ter) variant DOID:9003214 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: SCID, autosomal recessive, T-negative/B-positive type PMID:25741868 10045142 CV188907 NM_004646.4(NPHS1):c.3385A>C (p.Thr1129Pro) variant DOID:0080390 nephrotic syndrome type 1 IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome PMID:25741868 10045143 CV188908 NM_203486.3(DLL3):c.1136G>A (p.Cys379Tyr) variant DOID:0112365 spondylocostal dysostosis 1 IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Spondylocostal dysostosis 1, autosomal recessive PMID:25741868 10045145 CV188910 NM_000554.6(CRX):c.274G>A (p.Ala92Thr) variant DOID:0110333 Leber congenital amaurosis 7 IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 7 PMID:25741868|PMID:26355662|PMID:28492532 10045145 CV188910 NM_000554.6(CRX):c.274G>A (p.Ala92Thr) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa PMID:25741868|PMID:26355662|PMID:28492532 10045151 CV188919 NM_001378454.1(ALMS1):c.11873-2A>T variant DOID:0050473 Alstrom syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Alstrom syndrome PMID:19283855|PMID:25741868|PMID:28492532|PMID:33981653 10045152 CV188920 NM_000682.7(ADRA2B):c.664C>T (p.Arg222Ter) variant DOID:0111692 familial adult myoclonic epilepsy 2 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 2 PMID:25741868|PMID:27124789|PMID:27431290|PMID:31130284|PMID:37644014 10045153 CV188921 NM_014014.5(SNRNP200):c.2593G>A (p.Gly865Ser) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa PMID:25741868|PMID:26355662 10045153 CV188921 NM_014014.5(SNRNP200):c.2593G>A (p.Gly865Ser) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:26355662 10045156 CV188925 NM_001298.3(CNGA3):c.1573G>A (p.Gly525Ser) variant DOID:0110007 achromatopsia 2 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Achromatopsia 2 PMID:25741868 10045157 CV188926 NM_006343.3(MERTK):c.325A>T (p.Lys109Ter) variant DOID:0110367 retinitis pigmentosa 38 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 38 PMID:25741868|PMID:26355662 10045157 CV188926 NM_006343.3(MERTK):c.325A>T (p.Lys109Ter) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa PMID:25741868|PMID:26355662 10045158 CV188927 NM_006343.3(MERTK):c.1604+2T>G variant DOID:0110367 retinitis pigmentosa 38 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 38 PMID:25741868|PMID:26355662|PMID:29659094 10045158 CV188927 NM_006343.3(MERTK):c.1604+2T>G variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa PMID:25741868|PMID:26355662|PMID:29659094 10045159 CV188928 NM_006343.3(MERTK):c.2262C>G (p.Tyr754Ter) variant DOID:0110367 retinitis pigmentosa 38 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 38 PMID:25741868|PMID:26355662 10045159 CV188928 NM_006343.3(MERTK):c.2262C>G (p.Tyr754Ter) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa PMID:25741868|PMID:26355662 10045161 CV188934 NM_001267550.2(TTN):c.90890T>A (p.Phe30297Tyr) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:25741868 10045162 CV188935 NM_001267550.2(TTN):c.90223C>T (p.Gln30075Ter) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23975875|PMID:25589632|PMID:25741868|PMID:28492532 10045164 CV188938 NM_001267550.2(TTN):c.67534G>T (p.Asp22512Tyr) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868 10045165 CV188939 NM_001267550.2(TTN):c.66283C>T (p.Arg22095Trp) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Myopathy, early-onset, with fatal cardiomyopathy PMID:25741868|PMID:28492532 10045165 CV188939 NM_001267550.2(TTN):c.66283C>T (p.Arg22095Trp) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2J PMID:25741868|PMID:28492532 10045165 CV188939 NM_001267550.2(TTN):c.66283C>T (p.Arg22095Trp) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:25741868|PMID:28492532 10045165 CV188939 NM_001267550.2(TTN):c.66283C>T (p.Arg22095Trp) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:25741868|PMID:28492532 10045165 CV188939 NM_001267550.2(TTN):c.66283C>T (p.Arg22095Trp) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20190702 ClinVar ClinVar Annotator: match by term: Hereditary myopathy with early respiratory failure PMID:25741868|PMID:28492532 10045165 CV188939 NM_001267550.2(TTN):c.66283C>T (p.Arg22095Trp) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:28492532 10045167 CV188941 NM_001267550.2(TTN):c.52553G>A (p.Arg17518His) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:25741868 10045169 CV188943 NM_001267550.2(TTN):c.32470+3A>G variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:17576681|PMID:25589632|PMID:25741868|PMID:27493940|PMID:28492532|PMID:32778822|PMID:9536098 10045172 CV188946 NM_001267550.2(TTN):c.6959G>A (p.Arg2320His) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Salih Myopathy PMID:25741868|PMID:28492532 10045172 CV188946 NM_001267550.2(TTN):c.6959G>A (p.Arg2320His) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:25741868|PMID:28492532 10045172 CV188946 NM_001267550.2(TTN):c.6959G>A (p.Arg2320His) variant DOID:0110315 hypertrophic cardiomyopathy 9 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 9 PMID:25741868|PMID:28492532 10045172 CV188946 NM_001267550.2(TTN):c.6959G>A (p.Arg2320His) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:25741868|PMID:28492532 10045172 CV188946 NM_001267550.2(TTN):c.6959G>A (p.Arg2320His) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Udd Distal Myopathy PMID:25741868|PMID:28492532 10045172 CV188946 NM_001267550.2(TTN):c.6959G>A (p.Arg2320His) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant PMID:25741868|PMID:28492532 10045173 CV188948 NM_201548.5(CERKL):c.812T>C (p.Ile271Thr) variant DOID:0110368 retinitis pigmentosa 26 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 26 PMID:25741868|PMID:26355662 10045173 CV188948 NM_201548.5(CERKL):c.812T>C (p.Ile271Thr) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa PMID:25741868|PMID:26355662 10045174 CV188949 NM_006891.4(CRYGD):c.134T>C (p.Leu45Pro) variant DOID:0110234 cataract 4 multiple types IAGP D RGD:8554872 20250821 ClinVar ClinVar Annotator: match by term: CRYGD-related disorder PMID:25741868 10045177 CV188955 NM_004826.4(ECEL1):c.1210C>T (p.Arg404Cys) variant DOID:0111594 distal arthrogryposis type 5D IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Distal arthrogryposis type 5D PMID:25741868|PMID:26752647 10045178 CV188956 NM_001195129.2(PRSS56):c.1400G>T (p.Arg467Leu) variant DOID:0060835 isolated microphthalmia 6 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 6 PMID:25741868|PMID:28492532 10045180 CV188958 NM_002242.4(KCNJ13):c.359T>C (p.Ile120Thr) variant DOID:0110118 Leber congenital amaurosis 16 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 16 PMID:25475713|PMID:25741868 10045181 CV188959 NM_004369.4(COL6A3):c.2302C>G (p.Arg768Gly) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:25741868|PMID:28492532 10045182 CV188960 NM_024101.7(MLPH):c.104G>A (p.Arg35Gln) variant DOID:0060834 Griscelli syndrome type 3 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Griscelli syndrome type 3 PMID:12897212|PMID:21883982|PMID:25741868|PMID:26915675|PMID:28492532|PMID:30389201|PMID:31721180 10045185 CV188966 NM_004738.5(VAPB):c.656G>T (p.Gly219Val) variant DOID:0050752 amyotrophic lateral sclerosis type 8 IAGP D RGD:8554872 20180424 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 8 PMID:25741868|PMID:28492532 10045186 CV188968 NM_020639.3(RIPK4):c.1884C>T (p.Ser628=) variant DOID:9001939 Bartsocas-Papas Syndrome 1 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Bartsocas-Papas syndrome PMID:25741868|PMID:28492532 10045186 CV188968 NM_020639.3(RIPK4):c.1884C>T (p.Ser628=) variant DOID:9008620 Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome IAGP D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: RIPK4-related condition PMID:25741868|PMID:28492532 10045189 CV188971 NM_006031.6(PCNT):c.2374C>T (p.Arg792Ter) variant DOID:0060609 microcephalic osteodysplastic primordial dwarfism type II IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism type II PMID:18174396|PMID:22821869|PMID:25741868|PMID:27124789|PMID:28492532|PMID:30214071 10045190 CV188972 NM_001127649.3(PEX26):c.228C>T (p.Gly76=) variant DOID:0080482 peroxisome biogenesis disorder 7A IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 7A (Zellweger) PMID:25741868|PMID:28492532|PMID:32552793 10045194 CV188976 NM_015340.4(LARS2):c.457A>C (p.Asn153His) variant DOID:0050857 Perrault syndrome IAGP D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Perrault syndrome PMID:25741868|PMID:32747562 10045194 CV188976 NM_015340.4(LARS2):c.457A>C (p.Asn153His) variant DOID:9002027 HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA IAGP D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Hydrops, lactic acidosis, and sideroblastic anemia PMID:25741868|PMID:32747562 10045194 CV188976 NM_015340.4(LARS2):c.457A>C (p.Asn153His) variant DOID:9004726 Perrault Syndrome 4 IAGP D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Perrault syndrome 4 PMID:25741868|PMID:32747562 10045195 CV188977 NM_000258.3(MYL3):c.482-10C>T variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868 10045199 CV188982 NM_016247.4(IMPG2):c.3439C>T (p.Pro1147Ser) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:22277662|PMID:25741868|PMID:28492532 10045200 CV188983 NM_016247.4(IMPG2):c.2274G>A (p.Trp758Ter) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:26355662|PMID:30054919 10045200 CV188983 NM_016247.4(IMPG2):c.2274G>A (p.Trp758Ter) variant DOID:9006690 Vitelliform Macular Dystrophy 5 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Vitelliform macular dystrophy 5 PMID:25741868|PMID:26355662|PMID:30054919 10045201 CV188986 NM_016247.4(IMPG2):c.101C>G (p.Ser34Cys) variant DOID:9006690 Vitelliform Macular Dystrophy 5 IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Vitelliform macular dystrophy 5 PMID:25741868 10045202 CV188987 NM_052989.3(IFT122):c.1715G>T (p.Gly572Val) variant DOID:0080803 cranioectodermal dysplasia 1 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Cranioectodermal dysplasia 1 PMID:25741868 10045203 CV188988 NM_052989.3(IFT122):c.2375+2T>C variant DOID:0050577 cranioectodermal dysplasia IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Cranioectodermal dysplasia PMID:25741868 10045203 CV188988 NM_052989.3(IFT122):c.2375+2T>C variant DOID:0080803 cranioectodermal dysplasia 1 IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Cranioectodermal dysplasia 1 PMID:25741868 10045204 CV188989 NM_139125.4(MASP1):c.1576C>T (p.Arg526Ter) variant DOID:0060575 3MC syndrome 1 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: 3MC syndrome 1 PMID:25741868 10045205 CV188991 NM_001378615.1(CC2D2A):c.4437+1G>A variant DOID:0111004 Joubert syndrome 9 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Joubert syndrome 9 PMID:25741868 10045206 CV188992 NM_006017.3(PROM1):c.604C>G (p.Arg202Gly) variant DOID:0070517 retinal macular dystrophy 2 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Retinal macular dystrophy type 2 PMID:25741868|PMID:26355662|PMID:28492532|PMID:31129250|PMID:31964843|PMID:34426522|PMID:37217489|PMID:37734845 10045206 CV188992 NM_006017.3(PROM1):c.604C>G (p.Arg202Gly) variant DOID:0110376 retinitis pigmentosa 41 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 41 PMID:25741868|PMID:26355662|PMID:28492532|PMID:31129250|PMID:31964843|PMID:34426522|PMID:37217489|PMID:37734845 10045206 CV188992 NM_006017.3(PROM1):c.604C>G (p.Arg202Gly) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:26355662|PMID:28492532|PMID:31129250|PMID:31964843|PMID:34426522|PMID:37217489|PMID:37734845 10045206 CV188992 NM_006017.3(PROM1):c.604C>G (p.Arg202Gly) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:26355662|PMID:28492532|PMID:31129250|PMID:31964843|PMID:34426522|PMID:37217489|PMID:37734845 10045206 CV188992 NM_006017.3(PROM1):c.604C>G (p.Arg202Gly) variant DOID:9000565 Stargardt Disease 4 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Stargardt disease 4 PMID:25741868|PMID:26355662|PMID:28492532|PMID:31129250|PMID:31964843|PMID:34426522|PMID:37217489|PMID:37734845 10045208 CV188995 NM_025074.7(FRAS1):c.8098+2T>A variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:32643034 10045210 CV188998 NM_001148.6(ANK2):c.8324A>G (p.His2775Arg) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532|PMID:32508047 10045213 CV189001 NM_000414.4(HSD17B4):c.367C>G (p.His123Asp) variant DOID:9003326 Perrault Syndrome 1 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Perrault syndrome 1 PMID:25741868 10045215 CV189005 NM_001371623.1(TCOF1):c.2656C>T (p.Gln886Ter) variant DOID:0080789 Treacher Collins syndrome 1 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Treacher Collins syndrome 1 PMID:25741868 10045216 CV189006 NM_022455.5(NSD1):c.2058T>A (p.Tyr686Ter) variant DOID:14748 Sotos syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Sotos syndrome PMID:25741868 10045217 CV189007 NM_145649.5(GCNT2):c.1025A>G (p.Tyr342Cys) variant DOID:0110242 cataract 13 with adult i phenotype IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Cataract 13 with adult I phenotype PMID:25741868 10045219 CV189011 NM_000322.5(PRPH2):c.497G>A (p.Cys166Tyr) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:26061163|PMID:26355662|PMID:28492532 10045220 CV189012 NM_000287.4(PEX6):c.661G>T (p.Glu221Ter) variant DOID:0080624 Heimler syndrome 2 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Heimler syndrome 2 PMID:25741868 10045222 CV189014 NM_014780.5(CUL7):c.2416G>A (p.Glu806Lys) variant DOID:9005349 Three M Syndrome 1 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Three M syndrome 1 PMID:25741868|PMID:28492532 10045224 CV189016 NM_012434.5(SLC17A5):c.899C>T (p.Ser300Phe) variant DOID:0050450 Gitelman syndrome IAGP D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria PMID:25741868|PMID:28492532 10045224 CV189016 NM_012434.5(SLC17A5):c.899C>T (p.Ser300Phe) variant DOID:0090059 enhanced S-cone syndrome IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Enhanced S-cone syndrome PMID:25741868|PMID:28492532 10045224 CV189016 NM_012434.5(SLC17A5):c.899C>T (p.Ser300Phe) variant DOID:3659 sialuria IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Salla disease PMID:25741868|PMID:28492532 10045224 CV189016 NM_012434.5(SLC17A5):c.899C>T (p.Ser300Phe) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10045224 CV189016 NM_012434.5(SLC17A5):c.899C>T (p.Ser300Phe) variant DOID:9000742 Free Sialic Acid Storage Disease IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: N-acetylneuraminic acid (NANA) storage disease (NSD) PMID:25741868|PMID:28492532 10045224 CV189016 NM_012434.5(SLC17A5):c.899C>T (p.Ser300Phe) variant DOID:9003820 Infantile Sialic Storage Disease IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Infantile Sialic Acid Storage Disease PMID:25741868|PMID:28492532 10045225 CV189017 NM_000426.4(LAMA2):c.4348C>T (p.Arg1450Ter) variant DOID:0061132 autosomal recessive limb-girdle muscular dystrophy type 23 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, autosomal recessive 23 PMID:18700894|PMID:25741868|PMID:28492532|PMID:30055037|PMID:32904964 10045225 CV189017 NM_000426.4(LAMA2):c.4348C>T (p.Arg1450Ter) variant DOID:0110636 congenital merosin-deficient muscular dystrophy 1A IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Merosin deficient congenital muscular dystrophy PMID:18700894|PMID:25741868|PMID:28492532|PMID:30055037|PMID:32904964 10045226 CV189018 NM_004830.4(MED23):c.479T>C (p.Leu160Pro) variant DOID:0081190 autosomal recessive intellectual developmental disorder 18 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 18 PMID:25741868 10045227 CV189019 NM_001374828.1(ARID1B):c.2654C>T (p.Ser885Leu) variant DOID:0070042 Coffin-Siris syndrome 1 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features PMID:25741868|PMID:28492532 10045227 CV189019 NM_001374828.1(ARID1B):c.2654C>T (p.Ser885Leu) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10045228 CV189020 NM_001374828.1(ARID1B):c.6319G>T (p.Glu2107Ter) variant DOID:0070042 Coffin-Siris syndrome 1 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome 1 PMID:25741868 10045232 CV189026 NM_000238.4(KCNH2):c.1738G>C (p.Asp580His) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10045237 CV189033 NM_000127.3(EXT1):c.2132G>A (p.Trp711Ter) variant DOID:206 hereditary multiple exostoses IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Multiple congenital exostosis PMID:25741868|PMID:28492532|PMID:29620724 10045239 CV189036 NM_001160372.4(TRAPPC9):c.3034C>T (p.Gln1012Ter) variant DOID:0081098 autosomal recessive intellectual developmental disorder 13 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 13 PMID:25741868 10045241 CV189040 NM_001079802.2(FKTN):c.314G>T (p.Cys105Phe) variant DOID:0050559 Fukuyama congenital muscular dystrophy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Walker-Warburg Syndrome, Fktn-Related PMID:25741868|PMID:27671536 10045241 CV189040 NM_001079802.2(FKTN):c.314G>T (p.Cys105Phe) variant DOID:9006181 Congenital Muscular Dystrophy with Central Nervous System Involvement IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, congenital, with central nervous system involvement PMID:25741868|PMID:27671536 10045242 CV189041 NM_001032221.6(STXBP1):c.874C>T (p.Arg292Cys) variant DOID:0050562 West syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: West syndrome PMID:18414213|PMID:24781210|PMID:25356970|PMID:25741868|PMID:26795593|PMID:26865513|PMID:26993267|PMID:28492532|PMID:29264391|PMID:32643187 10045242 CV189041 NM_001032221.6(STXBP1):c.874C>T (p.Arg292Cys) variant DOID:0050952 spastic ataxia IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Spastic ataxia PMID:18414213|PMID:24781210|PMID:25356970|PMID:25741868|PMID:26795593|PMID:26865513|PMID:26993267|PMID:28492532|PMID:29264391|PMID:32643187 10045242 CV189041 NM_001032221.6(STXBP1):c.874C>T (p.Arg292Cys) variant DOID:0060470 salt and pepper syndrome IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Infantile epilepsy syndrome PMID:18414213|PMID:24781210|PMID:25356970|PMID:25741868|PMID:26795593|PMID:26865513|PMID:26993267|PMID:28492532|PMID:29264391|PMID:32643187 10045242 CV189041 NM_001032221.6(STXBP1):c.874C>T (p.Arg292Cys) variant DOID:0060475 myoclonic-atonic epilepsy IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Early onset epileptic encephalopathy PMID:18414213|PMID:24781210|PMID:25356970|PMID:25741868|PMID:26795593|PMID:26865513|PMID:26993267|PMID:28492532|PMID:29264391|PMID:32643187 10045242 CV189041 NM_001032221.6(STXBP1):c.874C>T (p.Arg292Cys) variant DOID:0080436 developmental and epileptic encephalopathy 4 IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 4 PMID:18414213|PMID:24781210|PMID:25356970|PMID:25741868|PMID:26795593|PMID:26865513|PMID:26993267|PMID:28492532|PMID:29264391|PMID:32643187 10045242 CV189041 NM_001032221.6(STXBP1):c.874C>T (p.Arg292Cys) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18414213|PMID:24781210|PMID:25356970|PMID:25741868|PMID:26795593|PMID:26865513|PMID:26993267|PMID:28492532|PMID:29264391|PMID:32643187 10045242 CV189041 NM_001032221.6(STXBP1):c.874C>T (p.Arg292Cys) variant DOID:630 genetic disease IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:24781210|PMID:25356970|PMID:25741868|PMID:26795593|PMID:26865513|PMID:26993267|PMID:28492532|PMID:29264391|PMID:32643187 10045245 CV189044 NM_024757.5(EHMT1):c.611G>A (p.Arg204His) variant DOID:0060352 Kleefstra syndrome 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:25741868|PMID:28492532 10045247 CV189046 NM_004006.3(DMD):c.3922-3C>T variant DOID:11723 Duchenne muscular dystrophy IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 10045247 CV189046 NM_004006.3(DMD):c.3922-3C>T variant DOID:9883 Becker muscular dystrophy IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Becker muscular dystrophy PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 10045249 CV189049 NM_006915.3(RP2):c.2T>C (p.Met1Thr) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:10942419|PMID:17724181|PMID:25741868|PMID:26355662|PMID:28209709|PMID:28492532|PMID:29847639|PMID:9697692 10045253 CV189053 NM_000489.6(ATRX):c.2102G>A (p.Arg701His) variant DOID:0110030 alpha thalassemia-X-linked intellectual disability syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Alpha thalassemia-X-linked intellectual disability syndrome PMID:25741868|PMID:28492532 10045255 CV189055 NM_000533.5(PLP1):c.650G>A (p.Gly217Asp) variant DOID:0110773 hereditary spastic paraplegia 2 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 PMID:25741868 10045259 CV189061 NM_001278116.2(L1CAM):c.1124-6_1124-3dup variant DOID:607 paraplegia IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:25741868|PMID:28492532 10045260 CV189062 NM_153704.6(TMEM67):c.1413-2A>G variant DOID:9000639 COACH Syndrome 1 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: COACH syndrome 1 PMID:25741868 10045261 CV189063 NM_025000.4(DCAF17):c.322-14C>T variant DOID:0112264 Woodhouse-Sakati syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Woodhouse-Sakati syndrome PMID:25741868|PMID:27489925|PMID:28492532|PMID:31347785|PMID:35876063 10045262 CV189064 NM_004285.4(H6PD):c.745+88T>A variant DOID:0090141 cortisone reductase deficiency 1 IAGP D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Cortisone reductase deficiency 1 PMID:25741868 10045263 CV189065 NM_000350.3(ABCA4):c.1630_1633dup (p.Asn545fs) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa PMID:25741868|PMID:26355662 10045265 CV189067 NM_201253.3(CRB1):c.2330_2336del (p.Pro777fs) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa PMID:25741868|PMID:26355662 10045267 CV189069 NM_001008212.2(OPTN):c.918_922del (p.Thr307fs) variant DOID:0060203 amyotrophic lateral sclerosis type 12 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 12 PMID:20428114|PMID:25741868|PMID:28492532|PMID:35896380 10045267 CV189069 NM_001008212.2(OPTN):c.918_922del (p.Thr307fs) variant DOID:1070 primary open angle glaucoma IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Primary open angle glaucoma PMID:20428114|PMID:25741868|PMID:28492532|PMID:35896380 10045268 CV189070 NM_022124.6(CDH23):c.9058_9060del (p.Arg3020del) variant DOID:0110831 Usher syndrome type 1D IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1D PMID:25741868|PMID:28492532 10045271 CV189073 NM_000448.3(RAG1):c.555del (p.Lys186fs) variant DOID:0090013 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive IAGP D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive PMID:25741868 10045272 CV189074 NM_000536.4(RAG2):c.1403_1406del (p.His468fs) variant DOID:0112253 combined cellular and humoral immune defects with granulomas IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas PMID:21624848|PMID:25741868|PMID:26915675|PMID:28492532|PMID:29772310 10045275 CV189077 NM_001197104.2(KMT2A):c.7567_7570del (p.Val2523fs) variant DOID:9002112 Wiedemann-Steiner syndrome IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Wiedemann-Steiner syndrome PMID:25741868|PMID:29276005 10045277 CV189079 NM_001940.4(ATN1):c.3178C>T (p.His1060Tyr) variant DOID:9007455 Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies IAGP D RGD:8554872 20190820 ClinVar ClinVar Annotator: match by term: CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES PMID:25741868|PMID:30827498 10045285 CV189087 NM_020366.4(RPGRIP1):c.2876del (p.Lys959fs) variant DOID:0110329 Leber congenital amaurosis 6 IAGP D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 6 PMID:25741868 10045290 CV189092 NM_000326.5(RLBP1):c.286_297del (p.Phe96_Phe99del) variant DOID:0050683 Bothnia retinal dystrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Bothnia retinal dystrophy PMID:25326637|PMID:25741868|PMID:26355662|PMID:28492532|PMID:32188692|PMID:32552793|PMID:34426522 10045290 CV189092 NM_000326.5(RLBP1):c.286_297del (p.Phe96_Phe99del) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25326637|PMID:25741868|PMID:26355662|PMID:28492532|PMID:32188692|PMID:32552793|PMID:34426522 10045290 CV189092 NM_000326.5(RLBP1):c.286_297del (p.Phe96_Phe99del) variant DOID:11105 fundus albipunctatus IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinitis punctata albescens PMID:25326637|PMID:25741868|PMID:26355662|PMID:28492532|PMID:32188692|PMID:32552793|PMID:34426522 10045290 CV189092 NM_000326.5(RLBP1):c.286_297del (p.Phe96_Phe99del) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25326637|PMID:25741868|PMID:26355662|PMID:28492532|PMID:32188692|PMID:32552793|PMID:34426522 10045290 CV189092 NM_000326.5(RLBP1):c.286_297del (p.Phe96_Phe99del) variant DOID:9008296 Eye Abnormalities IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Abnormality of the eye PMID:25326637|PMID:25741868|PMID:26355662|PMID:28492532|PMID:32188692|PMID:32552793|PMID:34426522 10045291 CV189093 NM_025193.4(HSD3B7):c.694+2del variant DOID:0111071 congenital bile acid synthesis defect 1 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Congenital bile acid synthesis defect 1 PMID:25741868 10045294 CV189097 NM_000023.4(SGCA):c.981_982dup (p.Asp328fs) variant DOID:0110278 autosomal recessive limb-girdle muscular dystrophy type 2D IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2D PMID:25741868|PMID:27671536|PMID:28492532 10045298 CV189101 NM_000554.6(CRX):c.695del (p.Pro232fs) variant DOID:0110333 Leber congenital amaurosis 7 IAGP D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 7 PMID:25741868|PMID:26355662 10045298 CV189101 NM_000554.6(CRX):c.695del (p.Pro232fs) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa PMID:25741868|PMID:26355662 10045300 CV189103 NM_000379.4(XDH):c.3276+12A>G variant DOID:0070452 xanthinuria type I IAGP D RGD:8554872 20250729 ClinVar ClinVar Annotator: match by term: Hereditary xanthinuria type 1 PMID:25741868|PMID:28492532 10045300 CV189103 NM_000379.4(XDH):c.3276+12A>G variant DOID:0070453 xanthinuria type II IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Xanthinuria type II PMID:25741868|PMID:28492532 10045301 CV189104 NM_001039348.3(EFEMP1):c.*6del variant DOID:0060745 Doyne honeycomb retinal dystrophy IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Doyne honeycomb retinal dystrophy PMID:25741868 10045301 CV189104 NM_001039348.3(EFEMP1):c.*6del variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868 10045306 CV189109 NM_152384.3(BBS5):c.532G>A (p.Gly178Arg) variant DOID:0110127 Bardet-Biedl syndrome 5 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 5 PMID:25741868 10045306 CV189109 NM_152384.3(BBS5):c.532G>A (p.Gly178Arg) variant DOID:1935 Bardet-Biedl syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:25741868 10045309 CV189112 NM_025000.4(DCAF17):c.322-14del variant DOID:0112264 Woodhouse-Sakati syndrome IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Woodhouse-Sakati syndrome PMID:25741868|PMID:28492532 10045312 CV189115 NM_000092.5(COL4A4):c.3979G>A (p.Val1327Met) variant DOID:0110033 autosomal recessive Alport syndrome IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Alport syndrome, autosomal recessive PMID:12028435|PMID:17396119|PMID:19129241|PMID:19675380|PMID:20029656|PMID:24033266|PMID:25514610|PMID:25741868|PMID:25755845|PMID:26467025|PMID:28492532 10045312 CV189115 NM_000092.5(COL4A4):c.3979G>A (p.Val1327Met) variant DOID:0110034 X-linked Alport syndrome IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: X-linked Alport syndrome PMID:12028435|PMID:17396119|PMID:19129241|PMID:19675380|PMID:20029656|PMID:24033266|PMID:25514610|PMID:25741868|PMID:25755845|PMID:26467025|PMID:28492532 10045312 CV189115 NM_000092.5(COL4A4):c.3979G>A (p.Val1327Met) variant DOID:10983 Alport syndrome IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Alport syndrome PMID:12028435|PMID:17396119|PMID:19129241|PMID:19675380|PMID:20029656|PMID:24033266|PMID:25514610|PMID:25741868|PMID:25755845|PMID:26467025|PMID:28492532 10045313 CV189116 NM_000092.5(COL4A4):c.2420del (p.Gly807fs) variant DOID:0110033 autosomal recessive Alport syndrome IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Autosomal recessive Alport syndrome PMID:23551117|PMID:24398087|PMID:25741868|PMID:32647767 10045315 CV189118 NM_024101.7(MLPH):c.987del (p.Lys330fs) variant DOID:0060834 Griscelli syndrome type 3 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Griscelli syndrome type 3 PMID:25741868 10045317 CV189121 NM_001849.4(COL6A2):c.1997G>A (p.Ser666Asn) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:18378883|PMID:25211533|PMID:25741868|PMID:28492532 10045321 CV189125 NM_006005.3(WFS1):c.862G>A (p.Val288Met) variant DOID:0080584 autosomal dominant Wolfram syndrome IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Wolfram-like syndrome, autosomal dominant PMID:25741868|PMID:28492532 10045321 CV189125 NM_006005.3(WFS1):c.862G>A (p.Val288Met) variant DOID:0110241 cataract 41 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cataract 41 PMID:25741868|PMID:28492532 10045321 CV189125 NM_006005.3(WFS1):c.862G>A (p.Val288Met) variant DOID:0110584 autosomal dominant nonsyndromic deafness 6 IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 6 PMID:25741868|PMID:28492532 10045321 CV189125 NM_006005.3(WFS1):c.862G>A (p.Val288Met) variant DOID:0110629 Wolfram syndrome 1 IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Wolfram syndrome 1 PMID:25741868|PMID:28492532 10045321 CV189125 NM_006005.3(WFS1):c.862G>A (p.Val288Met) variant DOID:0111099 maturity-onset diabetes of the young type 1 IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:25741868|PMID:28492532 10045321 CV189125 NM_006005.3(WFS1):c.862G>A (p.Val288Met) variant DOID:9352 type 2 diabetes mellitus IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Type II diabetes mellitus PMID:25741868|PMID:28492532 10045323 CV189127 NM_004744.5(LRAT):c.233_242del (p.Leu78fs) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa PMID:25741868|PMID:26355662 10045324 CV189128 NM_001199397.3(NEK1):c.1690_1691del (p.Met564fs) variant DOID:0110087 asphyxiating thoracic dystrophy 3 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 PMID:25741868 10045324 CV189128 NM_001199397.3(NEK1):c.1690_1691del (p.Met564fs) variant DOID:0110092 short-rib thoracic dysplasia 6 with or without polydactyly IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly PMID:25741868 10045325 CV189129 NM_002185.5(IL7R):c.885del (p.Asn295fs) variant DOID:0090014 severe combined immunodeficiency 104 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Immunodeficiency 104 PMID:25741868 10045326 CV189130 NM_001127671.2(LIFR):c.1121+1G>A variant DOID:9008909 Stuve-Wiedemann Syndrome 1 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Stüve-Wiedemann syndrome 1 PMID:14740318|PMID:16199547|PMID:25741868|PMID:28492532|PMID:29620724 10045330 CV189134 NM_014780.5(CUL7):c.263del (p.Val88fs) variant DOID:9005349 Three M Syndrome 1 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: 3M syndrome 1 PMID:25741868 10045331 CV189135 NM_001142800.2(EYS):c.179del (p.Leu60fs) variant DOID:0110384 retinitis pigmentosa 25 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 25 PMID:25741868|PMID:26355662 10045331 CV189135 NM_001142800.2(EYS):c.179del (p.Leu60fs) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa PMID:25741868|PMID:26355662 10045331 CV189135 NM_001142800.2(EYS):c.179del (p.Leu60fs) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:26355662 10045333 CV189137 NM_000426.4(LAMA2):c.1762del (p.Ala588fs) variant DOID:0110636 congenital merosin-deficient muscular dystrophy 1A IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Merosin deficient congenital muscular dystrophy PMID:25741868 10045334 CV189139 NM_000466.3(PEX1):c.2176C>T (p.Gln726Ter) variant DOID:905 Zellweger syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Zellweger Spectrum PMID:16086329|PMID:16141001|PMID:21031596|PMID:25741868|PMID:26387595|PMID:28492532|PMID:31831025|PMID:9398847 10045335 CV189140 NM_000466.3(PEX1):c.657_660del (p.Ser220fs) variant DOID:0080623 Heimler syndrome 1 IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 1C PMID:16086329|PMID:16141001|PMID:21031596|PMID:25741868|PMID:26387595|PMID:28492532|PMID:31831025|PMID:9398847 10045335 CV189140 NM_000466.3(PEX1):c.657_660del (p.Ser220fs) variant DOID:905 Zellweger syndrome IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Zellweger Spectrum PMID:16086329|PMID:16141001|PMID:21031596|PMID:25741868|PMID:26387595|PMID:28492532|PMID:31831025|PMID:9398847 10045337 CV189142 NM_000492.4(CFTR):c.1375_1383del (p.Ser459_Gly461del) variant DOID:1485 cystic fibrosis IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Cystic fibrosis PMID:25741868 10045338 CV189144 NM_006269.2(RP1):c.1719_1723del (p.Ser574fs) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:11527933|PMID:19933189|PMID:25692139|PMID:25741868|PMID:26355662|PMID:28492532|PMID:29425069|PMID:30027431|PMID:33681214|PMID:36909829 10045338 CV189144 NM_006269.2(RP1):c.1719_1723del (p.Ser574fs) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11527933|PMID:19933189|PMID:25692139|PMID:25741868|PMID:26355662|PMID:28492532|PMID:29425069|PMID:30027431|PMID:33681214|PMID:36909829 10045341 CV189147 NM_017570.5(OPLAH):c.2303G>A (p.Arg768His) variant DOID:9006099 5-Oxoprolinase Deficiency IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: 5-Oxoprolinase deficiency PMID:25741868 10045348 CV189154 NM_000748.3(CHRNB2):c.1378C>G (p.Arg460Gly) variant DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25741868|PMID:26475232|PMID:28492532 10045348 CV189154 NM_000748.3(CHRNB2):c.1378C>G (p.Arg460Gly) variant DOID:0060684 autosomal dominant nocturnal frontal lobe epilepsy 3 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, type 3 PMID:25741868|PMID:26475232|PMID:28492532 10045348 CV189154 NM_000748.3(CHRNB2):c.1378C>G (p.Arg460Gly) variant DOID:1827 generalized epilepsy IAGP D RGD:8554872 20240618 ClinVar ClinVar Annotator: match by term: Generalized-onset seizure PMID:25741868|PMID:26475232|PMID:28492532 10045348 CV189154 NM_000748.3(CHRNB2):c.1378C>G (p.Arg460Gly) variant DOID:630 genetic disease IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26475232|PMID:28492532 10045349 CV189171 NM_015662.3(IFT172):c.4701C>A (p.His1567Gln) variant DOID:0081009 Bardet-Biedl syndrome 20 IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 20 PMID:25168386|PMID:28492532 10045349 CV189171 NM_015662.3(IFT172):c.4701C>A (p.His1567Gln) variant DOID:0110091 short-rib thoracic dysplasia 10 with or without polydactyly IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly PMID:25168386|PMID:28492532 10045350 CV189172 NM_015662.3(IFT172):c.1525-1G>A variant DOID:0081009 Bardet-Biedl syndrome 20 IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 20 PMID:16199547|PMID:24140113|PMID:25168386|PMID:25741868|PMID:28492532 10045350 CV189172 NM_015662.3(IFT172):c.1525-1G>A variant DOID:0110091 short-rib thoracic dysplasia 10 with or without polydactyly IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly PMID:16199547|PMID:24140113|PMID:25168386|PMID:25741868|PMID:28492532 10045350 CV189172 NM_015662.3(IFT172):c.1525-1G>A variant DOID:0110363 retinitis pigmentosa 71 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 71 PMID:16199547|PMID:24140113|PMID:25168386|PMID:25741868|PMID:28492532 10045351 CV189173 NM_015662.3(IFT172):c.4815T>G (p.Asp1605Glu) variant DOID:0110363 retinitis pigmentosa 71 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 71 PMID:25168386 10045352 CV189176 NM_024665.7(TBL1XR1):c.209G>A (p.Gly70Asp) variant DOID:0070071 autosomal dominant intellectual developmental disorder 41 IAGP D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 41 PMID:25102098 10045353 CV189177 NM_001282684.2(KCTD17):c.413G>A (p.Arg138His) variant DOID:0090036 myoclonic dystonia 26 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 26 PMID:25983243|PMID:28492532 10045533 TH2LCRR T helper type 2 locus control region associated RNA gene DOID:5683 hereditary breast ovarian cancer syndrome IAGP RGD:13489915 D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 PMID:25741868|PMID:27732944|PMID:27783279|PMID:28492532|PMID:32566746 10045533 TH2LCRR T helper type 2 locus control region associated RNA gene DOID:9007071 Hereditary Neoplastic Syndromes IAGP RGD:10405606|RGD:10405817|RGD:10405936|RGD:10405951|RGD:10767551|RGD:10767580|RGD:10768394|RGD:11088234|RGD:11088337|RGD:11088496|RGD:11089456|RGD:11089704|RGD:11089929|RGD:11090247|RGD:11090274|RGD:11090659|RGD:11091075|RGD:11092568|RGD:11093155|RGD:11094030|RGD:11094252|RGD:11094849|RGD:11095791|RGD:11095818|RGD:11347629|RGD:11347973|RGD:11348989|RGD:126726149|RGD:126728589|RGD:126732055|RGD:126737001|RGD:126738166|RGD:126739261|RGD:126742681|RGD:126746198|RGD:126746702|RGD:126749056|RGD:126749813|RGD:126750923|RGD:126751389|RGD:126751508|RGD:126755827|RGD:126758591|RGD:126759117|RGD:126760874|RGD:126769167|RGD:126769560|RGD:126769735|RGD:126770777|RGD:126771669|RGD:126773277|RGD:126774182|RGD:126908207|RGD:126913021|RGD:126913678|RGD:126915078|RGD:126915330|RGD:126918609|RGD:126922768|RGD:126923497|RGD:126923613|RGD:127238442|RGD:127242719|RGD:127248494|RGD:127249942|RGD:127252897|RGD:127261083|RGD:127268102|RGD:127272900|RGD:127274238|RGD:127279099|RGD:127283445|RGD:127284199|RGD:127291631|RGD:127294896|RGD:127304023|RGD:127309628|RGD:127309770|RGD:127313174|RGD:127316060|RGD:127317639|RGD:127330584|RGD:127333596|RGD:12882693|RGD:12883210|RGD:12883275|RGD:12883675|RGD:12884058|RGD:12884320|RGD:12884607|RGD:12884646|RGD:12886090|RGD:12887177|RGD:12889327|RGD:12891089|RGD:12891695|RGD:13464585|RGD:13464778|RGD:13465830|RGD:13465847|RGD:13467652|RGD:13467798|RGD:13468970|RGD:13470292|RGD:13470989|RGD:13471368|RGD:13472260|RGD:13472345|RGD:13472463|RGD:13472703|RGD:13473739|RGD:13474335|RGD:13474421|RGD:13475667|RGD:13476230|RGD:13479675|RGD:13479919|RGD:13483254|RGD:13486047|RGD:13486135|RGD:13487615|RGD:13487627|RGD:13488210|RGD:13489411|RGD:13489853|RGD:13490567 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome PMID:28492532 10045533 TH2LCRR T helper type 2 locus control region associated RNA gene DOID:9007071 Hereditary Neoplastic Syndromes IAGP RGD:10405623|RGD:12885054|RGD:12885503|RGD:12889142|RGD:13484457|RGD:13503398|RGD:13806715|RGD:15157324|RGD:152129739|RGD:8697342 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome PMID:26467025|PMID:28492532 10045533 TH2LCRR T helper type 2 locus control region associated RNA gene DOID:9007071 Hereditary Neoplastic Syndromes IAGP RGD:10767037|RGD:11088213|RGD:11093094|RGD:11348649|RGD:12883387|RGD:12888474|RGD:13468970|RGD:13471368|RGD:13471643|RGD:13475125|RGD:13483382|RGD:13499327|RGD:13500757|RGD:13809540|RGD:13813725|RGD:14702116|RGD:151726276|RGD:151876383|RGD:156158432|RGD:26885900|RGD:26886397|RGD:8570030|RGD:8658447|RGD:8696531|RGD:8698287|RGD:9851782|RGD:9852924|RGD:9853501 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome PMID:25741868|PMID:28492532 10045533 TH2LCRR T helper type 2 locus control region associated RNA gene DOID:9007071 Hereditary Neoplastic Syndromes IAGP RGD:10767037|RGD:11088213|RGD:11093094|RGD:11348649|RGD:12883387|RGD:12888474|RGD:13468970|RGD:13471368|RGD:13471643|RGD:13475125|RGD:13483382|RGD:13499327|RGD:13500757|RGD:13809540|RGD:13813725|RGD:14702116|RGD:151876383|RGD:156158432|RGD:26885900|RGD:26886397|RGD:8570030|RGD:8658447|RGD:8696531|RGD:8698287|RGD:9851782|RGD:9852924|RGD:9853501 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome PMID:25741868|PMID:28492532 10045533 TH2LCRR T helper type 2 locus control region associated RNA gene DOID:9007071 Hereditary Neoplastic Syndromes IAGP RGD:10767037|RGD:11088213|RGD:11093094|RGD:11348649|RGD:12883387|RGD:12888474|RGD:13471368|RGD:13471643|RGD:13475125|RGD:13483382|RGD:13499327|RGD:13500757|RGD:13809540|RGD:13813725|RGD:151876383|RGD:156158432|RGD:26885900|RGD:26886397|RGD:8570030|RGD:8658447|RGD:8698287|RGD:9851782|RGD:9853501 D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532 10045533 TH2LCRR T helper type 2 locus control region associated RNA gene DOID:9007071 Hereditary Neoplastic Syndromes IAGP RGD:11089605|RGD:11091370|RGD:11093173|RGD:13482210|RGD:13483372|RGD:13489089|RGD:13496408|RGD:13502208|RGD:13502543|RGD:155663999|RGD:155664601|RGD:155664912|RGD:155665279|RGD:155665375|RGD:155665547|RGD:155665614|RGD:155665965|RGD:155667429|RGD:155667922|RGD:155672036|RGD:155672056|RGD:155674672|RGD:155675939|RGD:155676697|RGD:155676838|RGD:155684154|RGD:155684530|RGD:155684727|RGD:155685533|RGD:155685876|RGD:155686199|RGD:155686385|RGD:155690212|RGD:155690262|RGD:155690938|RGD:155691079|RGD:155691087|RGD:155691300|RGD:155695461|RGD:155695552|RGD:155695671|RGD:155720569|RGD:155720943|RGD:155720962|RGD:155721685|RGD:155729622|RGD:155730008|RGD:155730305|RGD:155740754|RGD:155740763|RGD:156007966|RGD:25316397|RGD:25316664|RGD:25316910|RGD:25316986|RGD:25317210|RGD:25317315|RGD:25317539|RGD:25317541|RGD:25317546|RGD:25317645|RGD:25317789|RGD:25317792|RGD:329357690|RGD:329365768|RGD:329365785|RGD:329365800|RGD:329365814|RGD:401744716|RGD:401744757|RGD:401767198|RGD:401767209|RGD:401767213|RGD:401767222|RGD:401767235|RGD:401858956|RGD:401858959|RGD:401858962|RGD:401858971|RGD:401862008|RGD:405705764|RGD:405705975|RGD:405705993|RGD:405706000|RGD:405706008|RGD:405706039|RGD:405706045|RGD:405706053|RGD:407484446|RGD:407484542|RGD:407484555|RGD:597651951|RGD:597652002|RGD:597652042|RGD:597652171|RGD:597664542|RGD:597664591|RGD:597664672|RGD:8631374|RGD:8697692|RGD:8698591|RGD:9853616|RGD:9854359 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary 10045533 TH2LCRR T helper type 2 locus control region associated RNA gene DOID:9007071 Hereditary Neoplastic Syndromes IAGP RGD:11089605|RGD:11091370|RGD:11093173|RGD:13482210|RGD:13483372|RGD:13489089|RGD:13496408|RGD:13502208|RGD:13502543|RGD:155663999|RGD:155664601|RGD:155664912|RGD:155665279|RGD:155665375|RGD:155665547|RGD:155665614|RGD:155665965|RGD:155667429|RGD:155667922|RGD:155672036|RGD:155672056|RGD:155674672|RGD:155675939|RGD:155676697|RGD:155676838|RGD:155684154|RGD:155684530|RGD:155684727|RGD:155685533|RGD:155685876|RGD:155686199|RGD:155686385|RGD:155690212|RGD:155690262|RGD:155690938|RGD:155691079|RGD:155691087|RGD:155691300|RGD:155695461|RGD:155695552|RGD:155695671|RGD:155720569|RGD:155720943|RGD:155720962|RGD:155721685|RGD:155729622|RGD:155730008|RGD:155730305|RGD:155740754|RGD:155740763|RGD:156007966|RGD:25316397|RGD:25316664|RGD:25316910|RGD:25316986|RGD:25317210|RGD:25317315|RGD:25317539|RGD:25317541|RGD:25317546|RGD:25317645|RGD:25317789|RGD:25317792|RGD:329357690|RGD:329365768|RGD:329365785|RGD:329365800|RGD:329365814|RGD:401744716|RGD:401744757|RGD:401767198|RGD:401767209|RGD:401767213|RGD:401767222|RGD:401767235|RGD:401858956|RGD:401858959|RGD:401858962|RGD:401858971|RGD:401862008|RGD:405705764|RGD:405705975|RGD:405705993|RGD:405706000|RGD:405706008|RGD:405706039|RGD:405706045|RGD:405706053|RGD:407484446|RGD:407484542|RGD:407484555|RGD:8631374|RGD:8697692|RGD:8698591|RGD:9853616|RGD:9854359 D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome 10045533 TH2LCRR T helper type 2 locus control region associated RNA gene DOID:9007071 Hereditary Neoplastic Syndromes IAGP RGD:11089605|RGD:11091370|RGD:11093173|RGD:13482210|RGD:13483372|RGD:13489089|RGD:13496408|RGD:13502208|RGD:13502543|RGD:155663999|RGD:155664601|RGD:155664912|RGD:155665279|RGD:155665375|RGD:155665547|RGD:155665614|RGD:155665965|RGD:155667429|RGD:155667922|RGD:155672036|RGD:155672056|RGD:155674672|RGD:155675939|RGD:155676697|RGD:155676838|RGD:155684154|RGD:155684530|RGD:155684727|RGD:155685533|RGD:155685876|RGD:155686199|RGD:155686385|RGD:155690212|RGD:155690262|RGD:155690938|RGD:155691079|RGD:155691087|RGD:155691300|RGD:155695461|RGD:155695552|RGD:155695671|RGD:155720569|RGD:155720943|RGD:155720962|RGD:155721685|RGD:155729622|RGD:155730008|RGD:155730305|RGD:155740754|RGD:155740763|RGD:25316397|RGD:25316664|RGD:25316910|RGD:25316986|RGD:25317210|RGD:25317315|RGD:25317539|RGD:25317541|RGD:25317546|RGD:25317645|RGD:25317789|RGD:25317792|RGD:329357690|RGD:329365768|RGD:329365785|RGD:329365800|RGD:329365814|RGD:401744716|RGD:401744757|RGD:401767198|RGD:401767209|RGD:401767213|RGD:401767222|RGD:401767235|RGD:401858956|RGD:401858959|RGD:401858962|RGD:401858971|RGD:401862008|RGD:8631374|RGD:8697692|RGD:8698591|RGD:9853616|RGD:9854359 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary 10045533 TH2LCRR T helper type 2 locus control region associated RNA gene DOID:9007071 Hereditary Neoplastic Syndromes IAGP RGD:11089605|RGD:11091370|RGD:11093173|RGD:13482210|RGD:13483372|RGD:13489089|RGD:13496408|RGD:13502543|RGD:155663999|RGD:155664601|RGD:155664912|RGD:155665279|RGD:155665375|RGD:155665547|RGD:155665614|RGD:155665965|RGD:155667429|RGD:155667922|RGD:155672036|RGD:155672056|RGD:155674672|RGD:155676697|RGD:155676838|RGD:155684154|RGD:155684530|RGD:155684727|RGD:155685533|RGD:155685876|RGD:155686199|RGD:155686385|RGD:155690212|RGD:155690262|RGD:155690938|RGD:155691079|RGD:155691087|RGD:155691300|RGD:155695461|RGD:155695552|RGD:155695671|RGD:155720569|RGD:155720943|RGD:155720962|RGD:155721685|RGD:155729622|RGD:155730008|RGD:155730305|RGD:155740754|RGD:155740763|RGD:156007966|RGD:25316397|RGD:25316664|RGD:25316910|RGD:25316986|RGD:25317210|RGD:25317315|RGD:25317539|RGD:25317541|RGD:25317546|RGD:25317645|RGD:25317789|RGD:25317792|RGD:329357690|RGD:329365768|RGD:329365785|RGD:329365800|RGD:329365814|RGD:401744716|RGD:401744757|RGD:401767198|RGD:401767209|RGD:401767213|RGD:401767222|RGD:401767235|RGD:401858956|RGD:401858959|RGD:401858962|RGD:401858971|RGD:401862008|RGD:405705764|RGD:405705975|RGD:405705993|RGD:405706000|RGD:405706008|RGD:405706039|RGD:405706045|RGD:405706053|RGD:407484446|RGD:407484542|RGD:407484555|RGD:597651951|RGD:597652002|RGD:597652042|RGD:597652171|RGD:597664542|RGD:597664591|RGD:597664672|RGD:598165528|RGD:598165533|RGD:598165625|RGD:598165640|RGD:598165704|RGD:598165709|RGD:8631374|RGD:8697692|RGD:8698591|RGD:9853616|RGD:9854359 D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome 10045533 TH2LCRR T helper type 2 locus control region associated RNA gene DOID:9007071 Hereditary Neoplastic Syndromes IAGP RGD:11089605|RGD:11091370|RGD:11093173|RGD:13482210|RGD:13483372|RGD:13489089|RGD:13496408|RGD:13502543|RGD:155663999|RGD:155664601|RGD:155664912|RGD:155665279|RGD:155665375|RGD:155665547|RGD:155665614|RGD:155665965|RGD:155667429|RGD:155667922|RGD:155672036|RGD:155672056|RGD:155674672|RGD:155676697|RGD:155676838|RGD:155684154|RGD:155684530|RGD:155684727|RGD:155685533|RGD:155685876|RGD:155686199|RGD:155686385|RGD:155690212|RGD:155690262|RGD:155690938|RGD:155691079|RGD:155691087|RGD:155691300|RGD:155695461|RGD:155695552|RGD:155695671|RGD:155720569|RGD:155720943|RGD:155720962|RGD:155721685|RGD:155729622|RGD:155730008|RGD:155730305|RGD:155740754|RGD:155740763|RGD:156007966|RGD:25316397|RGD:25316664|RGD:25316910|RGD:25316986|RGD:25317210|RGD:25317315|RGD:25317539|RGD:25317541|RGD:25317546|RGD:25317645|RGD:25317789|RGD:25317792|RGD:329357690|RGD:329365768|RGD:329365785|RGD:329365800|RGD:329365814|RGD:401744716|RGD:401744757|RGD:401767198|RGD:401767209|RGD:401767213|RGD:401767222|RGD:401767235|RGD:401858956|RGD:401858959|RGD:401858962|RGD:401858971|RGD:401862008|RGD:405705764|RGD:405705975|RGD:405705993|RGD:405706000|RGD:405706008|RGD:405706039|RGD:405706045|RGD:405706053|RGD:407484446|RGD:407484542|RGD:407484555|RGD:597651951|RGD:597652002|RGD:597652042|RGD:597652171|RGD:597664542|RGD:597664591|RGD:597664672|RGD:8631374|RGD:8697692|RGD:8698591|RGD:9853616|RGD:9854359 D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary 10045533 TH2LCRR T helper type 2 locus control region associated RNA gene DOID:9007071 Hereditary Neoplastic Syndromes IAGP RGD:11095438 D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:10892749|PMID:24549055|PMID:24894818|PMID:25741868|PMID:28492532|PMID:30982232|PMID:36139606 10045533 TH2LCRR T helper type 2 locus control region associated RNA gene DOID:9007071 Hereditary Neoplastic Syndromes IAGP RGD:13491777|RGD:13493040|RGD:13493888|RGD:13494305|RGD:13494386|RGD:13494791|RGD:13495084|RGD:13495525|RGD:13497552|RGD:13498092|RGD:13500083|RGD:13500346|RGD:13500797|RGD:13501774|RGD:13502262|RGD:13502482|RGD:13502596|RGD:13502659|RGD:13502795|RGD:13502844|RGD:13502921|RGD:13503398|RGD:13504053|RGD:13614655|RGD:13614667|RGD:13614719|RGD:13614727|RGD:13614739|RGD:13614803|RGD:13805250|RGD:13805420|RGD:13808238|RGD:13809355|RGD:13810475|RGD:13811190|RGD:13813615|RGD:13815158|RGD:13816146|RGD:13819764|RGD:13821985|RGD:14691401|RGD:14701736|RGD:14701979|RGD:14702116|RGD:14705515|RGD:14705750|RGD:14706793|RGD:14710547|RGD:14711035|RGD:14711856|RGD:14712566|RGD:14719934|RGD:14720180|RGD:14723021|RGD:14723285|RGD:14723746|RGD:14728669|RGD:14733190|RGD:14735842|RGD:14740120|RGD:14740449|RGD:14741097|RGD:14741724|RGD:15097977|RGD:15109974|RGD:15111356|RGD:15141623|RGD:15145661|RGD:15151099|RGD:15157324|RGD:151667630|RGD:15166889|RGD:151714339|RGD:151714673|RGD:151719539|RGD:151726276|RGD:151734201|RGD:151735964|RGD:151743881|RGD:151746124|RGD:151748434|RGD:151751918|RGD:151754736|RGD:151754979|RGD:151760108|RGD:151760493|RGD:151769570|RGD:151775710|RGD:151776163|RGD:151777590|RGD:151786228|RGD:151804386|RGD:151810635|RGD:151825519|RGD:151826518|RGD:151842026|RGD:151845196|RGD:151853312|RGD:151856335|RGD:151861640|RGD:151866624|RGD:151866916|RGD:151877343|RGD:151880987|RGD:152031397|RGD:152033282|RGD:152039446|RGD:152041896|RGD:152042716|RGD:152045253|RGD:152056738|RGD:152057882|RGD:152063950|RGD:152069709|RGD:152072439|RGD:152072971|RGD:152078266|RGD:152078944|RGD:152082880|RGD:152084216|RGD:152084792|RGD:152088490|RGD:152088742|RGD:152089611|RGD:152093286|RGD:152094575 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome PMID:28492532 10045533 TH2LCRR T helper type 2 locus control region associated RNA gene DOID:9007071 Hereditary Neoplastic Syndromes IAGP RGD:13493888|RGD:13494305|RGD:13494386|RGD:13494791|RGD:13495084|RGD:13495525|RGD:13497552|RGD:13498092|RGD:13500083|RGD:13500346|RGD:13500797|RGD:13501774|RGD:13502262|RGD:13502482|RGD:13502596|RGD:13502659|RGD:13502795|RGD:13502844|RGD:13502921|RGD:13503398|RGD:13504053|RGD:13614655|RGD:13614667|RGD:13614719|RGD:13614727|RGD:13614739|RGD:13614803|RGD:13805250|RGD:13805420|RGD:13808238|RGD:13809355|RGD:13810475|RGD:13811190|RGD:13813615|RGD:13815158|RGD:13816146|RGD:13819764|RGD:13821985|RGD:14691401|RGD:14701736|RGD:14701979|RGD:14705515|RGD:14705750|RGD:14706793|RGD:14710547|RGD:14711035|RGD:14711856|RGD:14712566|RGD:14719934|RGD:14720180|RGD:14723021|RGD:14723285|RGD:14723746|RGD:14728669|RGD:14733190|RGD:14735842|RGD:14740120|RGD:14740449|RGD:14741097|RGD:14741724|RGD:15097977|RGD:15109974|RGD:15111356|RGD:15141623|RGD:15145661|RGD:15151099|RGD:15157324|RGD:151667630|RGD:15166889|RGD:151714339|RGD:151714673|RGD:151719539|RGD:151726276|RGD:151734201|RGD:151735964|RGD:151743881|RGD:151746124|RGD:151748434|RGD:151751918|RGD:151754736|RGD:151754979|RGD:151760108|RGD:151760493|RGD:151769570|RGD:151775710|RGD:151776163|RGD:151777590|RGD:151786228|RGD:151804386|RGD:151810635|RGD:151825519|RGD:151826518|RGD:151842026|RGD:151845196|RGD:151853312|RGD:151856335|RGD:151861640|RGD:151866624|RGD:151866916|RGD:151877343|RGD:151880987|RGD:152031397|RGD:152033282|RGD:152039446|RGD:152041896|RGD:152042716|RGD:152045253|RGD:152056738|RGD:152057882|RGD:152063950|RGD:152069709|RGD:152072439|RGD:152072971|RGD:152078266|RGD:152078944|RGD:152082880|RGD:152084216|RGD:152084792|RGD:152088490|RGD:152088742|RGD:152089611|RGD:152093286|RGD:152094575|RGD:152103372|RGD:152107020|RGD:152111252 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome PMID:28492532 10045533 TH2LCRR T helper type 2 locus control region associated RNA gene DOID:9007071 Hereditary Neoplastic Syndromes IAGP RGD:13494386|RGD:13494791|RGD:13495084|RGD:13495525|RGD:13497552|RGD:13498092|RGD:13500083|RGD:13500346|RGD:13500797|RGD:13501774|RGD:13502262|RGD:13502482|RGD:13502596|RGD:13502659|RGD:13502795|RGD:13502844|RGD:13502921|RGD:13504053|RGD:13614655|RGD:13614667|RGD:13614727|RGD:13614739|RGD:13614803|RGD:13805250|RGD:13805420|RGD:13808238|RGD:13809355|RGD:13810475|RGD:13811190|RGD:13813615|RGD:13815158|RGD:13816146|RGD:13819764|RGD:14691401|RGD:14701736|RGD:14701979|RGD:14705515|RGD:14705750|RGD:14706793|RGD:14710547|RGD:14711035|RGD:14711856|RGD:14712566|RGD:14719934|RGD:14720180|RGD:14723021|RGD:14723285|RGD:14723746|RGD:14728669|RGD:14735842|RGD:14740120|RGD:14740449|RGD:14741097|RGD:14741724|RGD:15097977|RGD:15109974|RGD:15111356|RGD:15141623|RGD:15145661|RGD:15151099|RGD:151667630|RGD:15166889|RGD:151714339|RGD:151714673|RGD:151719539|RGD:151734201|RGD:151735964|RGD:151743881|RGD:151746124|RGD:151748434|RGD:151751918|RGD:151754736|RGD:151754979|RGD:151760108|RGD:151760493|RGD:151769570|RGD:151775710|RGD:151776163|RGD:151777590|RGD:151786228|RGD:151804386|RGD:151810635|RGD:151825519|RGD:151826518|RGD:151842026|RGD:151845196|RGD:151853312|RGD:151856335|RGD:151861640|RGD:151866624|RGD:151866916|RGD:151877343|RGD:151880987|RGD:152031397|RGD:152033282|RGD:152039446|RGD:152041896|RGD:152042716|RGD:152045253|RGD:152056738|RGD:152057882|RGD:152063950|RGD:152069709|RGD:152072439|RGD:152072971|RGD:152078266|RGD:152078944|RGD:152082880|RGD:152084216|RGD:152084792|RGD:152088490|RGD:152088742|RGD:152089611|RGD:152093286|RGD:152094575|RGD:152103372|RGD:152107020|RGD:152111252|RGD:152114798|RGD:152125435|RGD:152131415|RGD:152135756|RGD:152137258|RGD:152147199|RGD:152149877 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28492532 10045533 TH2LCRR T helper type 2 locus control region associated RNA gene DOID:9007071 Hereditary Neoplastic Syndromes IAGP RGD:13819961|RGD:401912866 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868 10045533 TH2LCRR T helper type 2 locus control region associated RNA gene DOID:9007071 Hereditary Neoplastic Syndromes IAGP RGD:152103372|RGD:152107020|RGD:152111252|RGD:152114798|RGD:152125435|RGD:152131415|RGD:152135756|RGD:152137258|RGD:152147199|RGD:152149877|RGD:152153073|RGD:152155408|RGD:152159780|RGD:152163053|RGD:152167167|RGD:152172050|RGD:152172193|RGD:152173639|RGD:152175085|RGD:155665458|RGD:155678467|RGD:155682321|RGD:155683280|RGD:155684201|RGD:155685515|RGD:155689372|RGD:155694564|RGD:155695401|RGD:155703605|RGD:155901250|RGD:155912381|RGD:155913862|RGD:155918043|RGD:155944629|RGD:155963611|RGD:155968021|RGD:155980611|RGD:156004470|RGD:156018295|RGD:156030348|RGD:156041832|RGD:156046138|RGD:156080466|RGD:156111671|RGD:156128338|RGD:156158472|RGD:156166408|RGD:156184783|RGD:156190218|RGD:156196472|RGD:156200809|RGD:156201320|RGD:156214761|RGD:156223023|RGD:156261915|RGD:156267721|RGD:156277448|RGD:156294675|RGD:156298598|RGD:156312439|RGD:156322473|RGD:156323681|RGD:156325628|RGD:156330518|RGD:156336844|RGD:156343953|RGD:156350143|RGD:156351036|RGD:156354315|RGD:156366793|RGD:156393093|RGD:156410295|RGD:25316271|RGD:25316308|RGD:25316359|RGD:25316444|RGD:25316613|RGD:25316672|RGD:25316673|RGD:25316858|RGD:25316940|RGD:25317035|RGD:25317219|RGD:25317357|RGD:25317384|RGD:25317607|RGD:25317663|RGD:25317785|RGD:25317790|RGD:25317846|RGD:25317856|RGD:26891565|RGD:26900955|RGD:26901264|RGD:26907646|RGD:26908423|RGD:26911438|RGD:26915945|RGD:26919001|RGD:26919419|RGD:26920119|RGD:26923440|RGD:38456360|RGD:38458027|RGD:38467128|RGD:38473735|RGD:38479479|RGD:38481828|RGD:38482142|RGD:38483761|RGD:38484216|RGD:38484593|RGD:38487346|RGD:38492713|RGD:38492762|RGD:38496830|RGD:38497061|RGD:38497863|RGD:38498653|RGD:38499792|RGD:401767200|RGD:405140594|RGD:405140825|RGD:405141841 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome PMID:28492532 10045533 TH2LCRR T helper type 2 locus control region associated RNA gene DOID:9007071 Hereditary Neoplastic Syndromes IAGP RGD:152114798|RGD:152125435|RGD:152131415|RGD:152135756|RGD:152137258|RGD:152147199|RGD:152149877|RGD:152153073|RGD:152155408|RGD:152159780|RGD:152163053|RGD:152167167|RGD:152172050|RGD:152172193|RGD:152173639|RGD:152175085|RGD:155665458|RGD:155678467|RGD:155682321|RGD:155683280|RGD:155684201|RGD:155685515|RGD:155689372|RGD:155694564|RGD:155695401|RGD:155703605|RGD:155901250|RGD:155912381|RGD:155913862|RGD:155918043|RGD:155944629|RGD:155963611|RGD:155968021|RGD:155980611|RGD:156004470|RGD:156018295|RGD:156030348|RGD:156041832|RGD:156046138|RGD:156080466|RGD:156111671|RGD:156128338|RGD:156158472|RGD:156166408|RGD:156184783|RGD:156190218|RGD:156196472|RGD:156200809|RGD:156201320|RGD:156214761|RGD:156223023|RGD:156261915|RGD:156267721|RGD:156277448|RGD:156294675|RGD:156298598|RGD:156312439|RGD:156322473|RGD:156323681|RGD:156325628|RGD:156330518|RGD:156336844|RGD:156343953|RGD:156350143|RGD:156351036|RGD:156354315|RGD:156366793|RGD:156393093|RGD:156410295|RGD:25316271|RGD:25316308|RGD:25316359|RGD:25316444|RGD:25316613|RGD:25316672|RGD:25316673|RGD:25316858|RGD:25316940|RGD:25317035|RGD:25317219|RGD:25317357|RGD:25317384|RGD:25317607|RGD:25317663|RGD:25317785|RGD:25317790|RGD:25317846|RGD:25317856|RGD:26891565|RGD:26900955|RGD:26901264|RGD:26907646|RGD:26908423|RGD:26911438|RGD:26915945|RGD:26919001|RGD:26919419|RGD:26920119|RGD:26923440|RGD:38456360|RGD:38458027|RGD:38467128|RGD:38473735|RGD:38479479|RGD:38481828|RGD:38482142|RGD:38483761|RGD:38484216|RGD:38484593|RGD:38487346|RGD:38492713|RGD:38492762|RGD:38496830|RGD:38497061|RGD:38497863|RGD:38498653|RGD:38499792|RGD:401767200|RGD:405140594|RGD:405140825|RGD:405141841|RGD:405142242|RGD:405142518|RGD:405142529 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome PMID:28492532 10045533 TH2LCRR T helper type 2 locus control region associated RNA gene DOID:9007071 Hereditary Neoplastic Syndromes IAGP RGD:152153073|RGD:152155408|RGD:152159780|RGD:152163053|RGD:152167167|RGD:152172050|RGD:152172193|RGD:152173639|RGD:152175085|RGD:155665458|RGD:155678467|RGD:155682321|RGD:155683280|RGD:155684201|RGD:155685515|RGD:155689372|RGD:155694564|RGD:155695401|RGD:155703605|RGD:155901250|RGD:155912381|RGD:155913862|RGD:155918043|RGD:155944629|RGD:155963611|RGD:155968021|RGD:155980611|RGD:156004470|RGD:156018295|RGD:156030348|RGD:156041832|RGD:156046138|RGD:156080466|RGD:156111671|RGD:156128338|RGD:156158472|RGD:156166408|RGD:156184783|RGD:156190218|RGD:156196472|RGD:156200809|RGD:156201320|RGD:156214761|RGD:156223023|RGD:156261915|RGD:156267721|RGD:156277448|RGD:156294675|RGD:156298598|RGD:156312439|RGD:156322473|RGD:156323681|RGD:156325628|RGD:156330518|RGD:156336844|RGD:156343953|RGD:156350143|RGD:156351036|RGD:156354315|RGD:156366793|RGD:156393093|RGD:156410295|RGD:25316271|RGD:25316308|RGD:25316359|RGD:25316444|RGD:25316613|RGD:25316672|RGD:25316673|RGD:25316858|RGD:25316940|RGD:25317035|RGD:25317219|RGD:25317357|RGD:25317384|RGD:25317607|RGD:25317663|RGD:25317785|RGD:25317790|RGD:25317846|RGD:25317856|RGD:26891565|RGD:26900955|RGD:26901264|RGD:26907646|RGD:26908423|RGD:26911438|RGD:26915945|RGD:26919001|RGD:26919419|RGD:26920119|RGD:26923440|RGD:38456360|RGD:38458027|RGD:38467128|RGD:38473735|RGD:38479479|RGD:38481828|RGD:38482142|RGD:38483761|RGD:38484216|RGD:38484593|RGD:38487346|RGD:38492713|RGD:38492762|RGD:38496830|RGD:38497061|RGD:38497863|RGD:38498653|RGD:38499792|RGD:401767200|RGD:405140594|RGD:405140825|RGD:405141841|RGD:405142242|RGD:405142518|RGD:405142529|RGD:405142705|RGD:405142910|RGD:405143341|RGD:405143371|RGD:405143416|RGD:405150376|RGD:405195899 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28492532 10045533 TH2LCRR T helper type 2 locus control region associated RNA gene DOID:9007071 Hereditary Neoplastic Syndromes IAGP RGD:405142242|RGD:405142518|RGD:405142529|RGD:405142705|RGD:405142910|RGD:405143341|RGD:405143371|RGD:405143416|RGD:405150376|RGD:405195899|RGD:405231171|RGD:405246804|RGD:405246908|RGD:405246934|RGD:405246961|RGD:405246983|RGD:405247009|RGD:405247096|RGD:405247259|RGD:405248167|RGD:405248484|RGD:405249046|RGD:405249281|RGD:405249296|RGD:405249446|RGD:405249449|RGD:405249451|RGD:405249515|RGD:405249870|RGD:405250013|RGD:405250610|RGD:405255149|RGD:8658448|RGD:8696531|RGD:8696607|RGD:8696811|RGD:8697837|RGD:9834712|RGD:9850855|RGD:9851726|RGD:9851734|RGD:9851792|RGD:9852566|RGD:9852924|RGD:9853095|RGD:9854238 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome PMID:28492532 10045533 TH2LCRR T helper type 2 locus control region associated RNA gene DOID:9007071 Hereditary Neoplastic Syndromes IAGP RGD:405142705|RGD:405142910|RGD:405143341|RGD:405143371|RGD:405143416|RGD:405150376|RGD:405195899|RGD:405231171|RGD:405246804|RGD:405246908|RGD:405246934|RGD:405246961|RGD:405246983|RGD:405247009|RGD:405247096|RGD:405247259|RGD:405248167|RGD:405248484|RGD:405249046|RGD:405249281|RGD:405249296|RGD:405249446|RGD:405249449|RGD:405249451|RGD:405249515|RGD:405249870|RGD:405250013|RGD:405250610|RGD:405255149|RGD:8658448|RGD:8696607|RGD:8696811|RGD:8697837|RGD:9834712|RGD:9850855|RGD:9851726|RGD:9851734|RGD:9851792|RGD:9852566|RGD:9853095|RGD:9854238 D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome PMID:28492532 10045533 TH2LCRR T helper type 2 locus control region associated RNA gene DOID:9007071 Hereditary Neoplastic Syndromes IAGP RGD:405231171|RGD:405246804|RGD:405246908|RGD:405246934|RGD:405246961|RGD:405246983|RGD:405247009|RGD:405247096|RGD:405247259|RGD:405248167|RGD:405248484|RGD:405249046|RGD:405249281|RGD:405249296|RGD:405249446|RGD:405249449|RGD:405249451|RGD:405249515|RGD:405249870|RGD:405250013|RGD:405250610|RGD:405255149|RGD:8658448|RGD:8696811|RGD:8697837|RGD:9834712|RGD:9850855|RGD:9851726|RGD:9851734|RGD:9851792|RGD:9852566|RGD:9853095|RGD:9854238 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:28492532 10045533 TH2LCRR T helper type 2 locus control region associated RNA gene DOID:9007071 Hereditary Neoplastic Syndromes IAGP RGD:8658446 D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:23555315|PMID:25741868|PMID:26467025|PMID:27997549|PMID:28492532|PMID:32522261|PMID:32832836 10045533 TH2LCRR T helper type 2 locus control region associated RNA gene DOID:9007071 Hereditary Neoplastic Syndromes IAGP RGD:8697866|RGD:9852057 D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:26467025|PMID:28492532|PMID:33471991 10045533 TH2LCRR T helper type 2 locus control region associated RNA gene DOID:9007071 Hereditary Neoplastic Syndromes IAGP RGD:8697876 D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25503501|PMID:25741868|PMID:28492532 10045533 TH2LCRR T helper type 2 locus control region associated RNA gene DOID:9007071 Hereditary Neoplastic Syndromes IAGP RGD:9852373 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10892749|PMID:21035407|PMID:24894818|PMID:26689913|PMID:28492532 10046065 CV189353 NM_002234.4(KCNA5):c.919C>T (p.Pro307Ser) variant DOID:9001275 Familial Atrial Fibrillation 7 IAGP D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: altered potassium channel function PMID:23861362|PMID:25741868|PMID:28492532 10046065 CV189353 NM_002234.4(KCNA5):c.919C>T (p.Pro307Ser) variant DOID:9001820 Pulmonary Arterial Hypertension IAGP D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Pulmonary arterial hypertension PMID:23861362|PMID:25741868|PMID:28492532 10046066 CV189264 NM_005751.5(AKAP9):c.139C>T (p.His47Tyr) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:21270786|PMID:23861362|PMID:25741868|PMID:27981572|PMID:28492532 10046066 CV189264 NM_005751.5(AKAP9):c.139C>T (p.His47Tyr) variant DOID:0060224 atrial fibrillation IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Atrial fibrillation PMID:21270786|PMID:23861362|PMID:25741868|PMID:27981572|PMID:28492532 10046066 CV189264 NM_005751.5(AKAP9):c.139C>T (p.His47Tyr) variant DOID:0110644 long QT syndrome 1 IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:21270786|PMID:23861362|PMID:25741868|PMID:27981572|PMID:28492532 10046066 CV189264 NM_005751.5(AKAP9):c.139C>T (p.His47Tyr) variant DOID:0110652 long QT syndrome 11 IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Long QT syndrome 11 PMID:21270786|PMID:23861362|PMID:25741868|PMID:27981572|PMID:28492532 10046066 CV189264 NM_005751.5(AKAP9):c.139C>T (p.His47Tyr) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:21270786|PMID:23861362|PMID:25741868|PMID:27981572|PMID:28492532 10046066 CV189264 NM_005751.5(AKAP9):c.139C>T (p.His47Tyr) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:21270786|PMID:23861362|PMID:25741868|PMID:27981572|PMID:28492532 10046066 CV189264 NM_005751.5(AKAP9):c.139C>T (p.His47Tyr) variant DOID:6000 congestive heart failure IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Heart failure PMID:21270786|PMID:23861362|PMID:25741868|PMID:27981572|PMID:28492532 10046066 CV189264 NM_005751.5(AKAP9):c.139C>T (p.His47Tyr) variant DOID:9004730 Romano-Ward Syndrome IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome PMID:21270786|PMID:23861362|PMID:25741868|PMID:27981572|PMID:28492532 10046067 CV189267 NM_005751.5(AKAP9):c.1301G>A (p.Arg434Gln) variant DOID:0110644 long QT syndrome 1 IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:23861362|PMID:25649125|PMID:25741868|PMID:28492532 10046067 CV189267 NM_005751.5(AKAP9):c.1301G>A (p.Arg434Gln) variant DOID:0110652 long QT syndrome 11 IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Long QT syndrome 11 PMID:23861362|PMID:25649125|PMID:25741868|PMID:28492532 10046067 CV189267 NM_005751.5(AKAP9):c.1301G>A (p.Arg434Gln) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25649125|PMID:25741868|PMID:28492532 10046067 CV189267 NM_005751.5(AKAP9):c.1301G>A (p.Arg434Gln) variant DOID:9004730 Romano-Ward Syndrome IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome PMID:23861362|PMID:25649125|PMID:25741868|PMID:28492532 10046068 CV189268 NM_005751.5(AKAP9):c.1372G>C (p.Ala458Pro) variant DOID:0110652 long QT syndrome 11 IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Long QT syndrome 11 PMID:23861362|PMID:25741868|PMID:28492532 10046068 CV189268 NM_005751.5(AKAP9):c.1372G>C (p.Ala458Pro) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046068 CV189268 NM_005751.5(AKAP9):c.1372G>C (p.Ala458Pro) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25741868|PMID:28492532 10046069 CV189273 NM_005751.5(AKAP9):c.3827G>A (p.Arg1276Gln) variant DOID:0110644 long QT syndrome 1 IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:23861362|PMID:25741868|PMID:28492532 10046069 CV189273 NM_005751.5(AKAP9):c.3827G>A (p.Arg1276Gln) variant DOID:0110652 long QT syndrome 11 IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Long QT syndrome 11 PMID:23861362|PMID:25741868|PMID:28492532 10046069 CV189273 NM_005751.5(AKAP9):c.3827G>A (p.Arg1276Gln) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25741868|PMID:28492532 10046069 CV189273 NM_005751.5(AKAP9):c.3827G>A (p.Arg1276Gln) variant DOID:9004730 Romano-Ward Syndrome IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome PMID:23861362|PMID:25741868|PMID:28492532 10046070 CV189277 NM_005751.5(AKAP9):c.4199T>C (p.Met1400Thr) variant DOID:0110644 long QT syndrome 1 IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:23861362|PMID:25741868|PMID:28492532 10046070 CV189277 NM_005751.5(AKAP9):c.4199T>C (p.Met1400Thr) variant DOID:0110652 long QT syndrome 11 IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Long QT syndrome 11 PMID:23861362|PMID:25741868|PMID:28492532 10046070 CV189277 NM_005751.5(AKAP9):c.4199T>C (p.Met1400Thr) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25741868|PMID:28492532 10046070 CV189277 NM_005751.5(AKAP9):c.4199T>C (p.Met1400Thr) variant DOID:9004730 Romano-Ward Syndrome IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome PMID:23861362|PMID:25741868|PMID:28492532 10046071 CV189279 NM_005751.5(AKAP9):c.4519G>C (p.Asp1507His) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046071 CV189279 NM_005751.5(AKAP9):c.4519G>C (p.Asp1507His) variant DOID:0110652 long QT syndrome 11 IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Long QT syndrome 11 PMID:23861362|PMID:25741868|PMID:28492532 10046071 CV189279 NM_005751.5(AKAP9):c.4519G>C (p.Asp1507His) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25741868|PMID:28492532 10046072 CV189293 NM_005751.5(AKAP9):c.9092A>G (p.Gln3031Arg) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046072 CV189293 NM_005751.5(AKAP9):c.9092A>G (p.Gln3031Arg) variant DOID:0110652 long QT syndrome 11 IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Long QT syndrome 11 PMID:23861362|PMID:25741868|PMID:28492532 10046072 CV189293 NM_005751.5(AKAP9):c.9092A>G (p.Gln3031Arg) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25741868|PMID:28492532 10046072 CV189293 NM_005751.5(AKAP9):c.9092A>G (p.Gln3031Arg) variant DOID:9000184 Ventricular Fibrillation IAGP D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation PMID:23861362|PMID:25741868|PMID:28492532 10046073 CV189299 NM_005751.5(AKAP9):c.10331A>G (p.Gln3444Arg) variant DOID:0110644 long QT syndrome 1 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:23861362|PMID:25741868|PMID:28492532 10046073 CV189299 NM_005751.5(AKAP9):c.10331A>G (p.Gln3444Arg) variant DOID:0110652 long QT syndrome 11 IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Long QT syndrome 11 PMID:23861362|PMID:25741868|PMID:28492532 10046073 CV189299 NM_005751.5(AKAP9):c.10331A>G (p.Gln3444Arg) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20191008 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25741868|PMID:28492532 10046073 CV189299 NM_005751.5(AKAP9):c.10331A>G (p.Gln3444Arg) variant DOID:9004730 Romano-Ward Syndrome IAGP D RGD:8554872 20191008 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome PMID:23861362|PMID:25741868|PMID:28492532 10046074 CV189303 NM_005751.5(AKAP9):c.10858A>G (p.Ile3620Val) variant DOID:0110644 long QT syndrome 1 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:23861362|PMID:25741868|PMID:28492532 10046074 CV189303 NM_005751.5(AKAP9):c.10858A>G (p.Ile3620Val) variant DOID:0110652 long QT syndrome 11 IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Long QT syndrome 11 PMID:23861362|PMID:25741868|PMID:28492532 10046074 CV189303 NM_005751.5(AKAP9):c.10858A>G (p.Ile3620Val) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25741868|PMID:28492532 10046074 CV189303 NM_005751.5(AKAP9):c.10858A>G (p.Ile3620Val) variant DOID:9004730 Romano-Ward Syndrome IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome PMID:23861362|PMID:25741868|PMID:28492532 10046075 CV189238 NM_001148.6(ANK2):c.6634G>A (p.Gly2212Ser) variant DOID:0111700 ankyrin-B-related cardiac arrhythmia IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: ANKYRIN-B SYNDROME PMID:23861362|PMID:25741868|PMID:28492532 10046075 CV189238 NM_001148.6(ANK2):c.6634G>A (p.Gly2212Ser) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25741868|PMID:28492532 10046076 CV189240 NM_001148.6(ANK2):c.7007C>T (p.Ala2336Val) variant DOID:0111700 ankyrin-B-related cardiac arrhythmia IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: ANKYRIN-B SYNDROME PMID:23861362|PMID:25741868|PMID:28492532 10046076 CV189240 NM_001148.6(ANK2):c.7007C>T (p.Ala2336Val) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25741868|PMID:28492532 10046077 CV189247 NM_001148.6(ANK2):c.8503C>T (p.Pro2835Ser) variant DOID:0111700 ankyrin-B-related cardiac arrhythmia IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: ANKYRIN-B SYNDROME PMID:23861362|PMID:25741868|PMID:28492532 10046077 CV189247 NM_001148.6(ANK2):c.8503C>T (p.Pro2835Ser) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25741868|PMID:28492532 10046078 CV189249 NM_001148.6(ANK2):c.9061G>A (p.Ala3021Thr) variant DOID:0111700 ankyrin-B-related cardiac arrhythmia IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: ANKYRIN-B SYNDROME PMID:23861362|PMID:25741868|PMID:28492532 10046078 CV189249 NM_001148.6(ANK2):c.9061G>A (p.Ala3021Thr) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25741868|PMID:28492532 10046079 CV189250 NM_001148.6(ANK2):c.9454A>G (p.Thr3152Ala) variant DOID:0111700 ankyrin-B-related cardiac arrhythmia IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: ANKYRIN-B SYNDROME PMID:23861362|PMID:25741868|PMID:28492532 10046079 CV189250 NM_001148.6(ANK2):c.9454A>G (p.Thr3152Ala) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046079 CV189250 NM_001148.6(ANK2):c.9454A>G (p.Thr3152Ala) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25741868|PMID:28492532 10046080 CV189251 NM_001148.6(ANK2):c.9900C>A (p.Ser3300Arg) variant DOID:0111700 ankyrin-B-related cardiac arrhythmia IAGP D RGD:8554872 20180508 ClinVar ClinVar Annotator: match by term: ANKYRIN-B SYNDROME PMID:23861362|PMID:25741868|PMID:28492532 10046080 CV189251 NM_001148.6(ANK2):c.9900C>A (p.Ser3300Arg) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25741868|PMID:28492532 10046082 CV189314 NM_201596.3(CACNB2):c.804+653G>A variant DOID:0110221 Brugada syndrome 4 IAGP D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: Brugada syndrome 4 PMID:23861362 10046083 CV189319 NM_201596.3(CACNB2):c.1816C>G (p.Arg606Gly) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046083 CV189319 NM_201596.3(CACNB2):c.1816C>G (p.Arg606Gly) variant DOID:0110221 Brugada syndrome 4 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Brugada syndrome 4 PMID:23861362|PMID:25741868|PMID:28492532 10046083 CV189319 NM_201596.3(CACNB2):c.1816C>G (p.Arg606Gly) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046083 CV189319 NM_201596.3(CACNB2):c.1816C>G (p.Arg606Gly) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046083 CV189319 NM_201596.3(CACNB2):c.1816C>G (p.Arg606Gly) variant DOID:9000006 Supraventricular Tachycardia IAGP D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Supraventricular tachycardia PMID:23861362|PMID:25741868|PMID:28492532 10046083 CV189319 NM_201596.3(CACNB2):c.1816C>G (p.Arg606Gly) variant DOID:9005141 Ventricular Tachycardia IAGP D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:23861362|PMID:25741868|PMID:28492532 10046084 CV189351 NM_002234.4(KCNA5):c.751G>A (p.Ala251Thr) variant DOID:9001275 Familial Atrial Fibrillation 7 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 7 PMID:18209767|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 10046085 CV189354 NM_002234.4(KCNA5):c.929C>T (p.Pro310Leu) variant DOID:9001275 Familial Atrial Fibrillation 7 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: KCNA5-related condition PMID:15735608|PMID:22402074|PMID:23861362|PMID:25741868|PMID:28492532 10046086 CV189356 NM_002234.4(KCNA5):c.1150G>A (p.Gly384Arg) variant DOID:9001275 Familial Atrial Fibrillation 7 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 7 PMID:23861362|PMID:25741868|PMID:28492532 10046087 CV189357 NM_002234.4(KCNA5):c.1733G>A (p.Arg578Lys) variant DOID:0110218 Brugada syndrome 1 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Brugada syndrome 1 PMID:15735608|PMID:16411137|PMID:21306642|PMID:23264583|PMID:23861362|PMID:24068186|PMID:28492532 10046087 CV189357 NM_002234.4(KCNA5):c.1733G>A (p.Arg578Lys) variant DOID:9001275 Familial Atrial Fibrillation 7 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 7 PMID:15735608|PMID:16411137|PMID:21306642|PMID:23264583|PMID:23861362|PMID:24068186|PMID:28492532 10046089 CV189193 NM_001035.3(RYR2):c.5653G>T (p.Gly1885Trp) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868 10046089 CV189193 NM_001035.3(RYR2):c.5653G>T (p.Gly1885Trp) variant DOID:0060674 catecholaminergic polymorphic ventricular tachycardia IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:23861362|PMID:25741868 10046090 CV189377 NM_003098.3(SNTA1):c.317G>A (p.Arg106Gln) variant DOID:0110653 long QT syndrome 12 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Long QT syndrome 12 PMID:23861362|PMID:25741868|PMID:28492532 10046090 CV189377 NM_003098.3(SNTA1):c.317G>A (p.Arg106Gln) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046090 CV189377 NM_003098.3(SNTA1):c.317G>A (p.Arg106Gln) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome PMID:23861362|PMID:25741868|PMID:28492532 10046091 CV189857 NM_032578.4(MYPN):c.3335C>A (p.Pro1112His) variant DOID:0110445 dilated cardiomyopathy 1KK IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1KK PMID:23861362|PMID:25741868|PMID:26383259|PMID:27194543|PMID:30764827|PMID:30847666|PMID:31524317|PMID:37936622 10046091 CV189857 NM_032578.4(MYPN):c.3335C>A (p.Pro1112His) variant DOID:0110933 nemaline myopathy 11 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 11, autosomal recessive PMID:23861362|PMID:25741868|PMID:26383259|PMID:27194543|PMID:30764827|PMID:30847666|PMID:31524317|PMID:37936622 10046091 CV189857 NM_032578.4(MYPN):c.3335C>A (p.Pro1112His) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:23861362|PMID:25741868|PMID:26383259|PMID:27194543|PMID:30764827|PMID:30847666|PMID:31524317|PMID:37936622 10046092 CV189885 NM_014391.3(ANKRD1):c.313C>T (p.Pro105Ser) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:19608030|PMID:23299917|PMID:23861362|PMID:28492532|PMID:30847666 10046093 CV189390 NM_000447.3(PSEN2):c.211C>T (p.Arg71Trp) variant DOID:0110040 Alzheimer's disease 4 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Alzheimer disease 4 PMID:15130954|PMID:16474849|PMID:18667258|PMID:21544564|PMID:21959359|PMID:22118943|PMID:22312439|PMID:22475797|PMID:22503161|PMID:22753229|PMID:23861362|PMID:23990795|PMID:25604855|PMID:25741868|PMID:26242991|PMID:26467025|PMID:28492532 10046093 CV189390 NM_000447.3(PSEN2):c.211C>T (p.Arg71Trp) variant DOID:0110427 dilated cardiomyopathy 1V IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1V PMID:15130954|PMID:16474849|PMID:18667258|PMID:21544564|PMID:21959359|PMID:22118943|PMID:22312439|PMID:22475797|PMID:22503161|PMID:22753229|PMID:23861362|PMID:23990795|PMID:25604855|PMID:25741868|PMID:26242991|PMID:26467025|PMID:28492532 10046094 CV190006 NM_145046.5(CALR3):c.850G>A (p.Asp284Asn) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046094 CV190006 NM_145046.5(CALR3):c.850G>A (p.Asp284Asn) variant DOID:0110307 hypertrophic cardiomyopathy 1 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 PMID:23861362|PMID:25741868|PMID:28492532 10046094 CV190006 NM_145046.5(CALR3):c.850G>A (p.Asp284Asn) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046094 CV190006 NM_145046.5(CALR3):c.850G>A (p.Asp284Asn) variant DOID:9001172 FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 19 IAGP D RGD:8554872 20191015 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 19 PMID:23861362|PMID:25741868|PMID:28492532 10046095 CV190007 NM_145046.5(CALR3):c.820G>A (p.Val274Ile) variant DOID:0110307 hypertrophic cardiomyopathy 1 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 PMID:23861362|PMID:25741868|PMID:28492532 10046095 CV190007 NM_145046.5(CALR3):c.820G>A (p.Val274Ile) variant DOID:9001172 FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 19 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 19 PMID:23861362|PMID:25741868|PMID:28492532 10046097 CV189381 NM_170707.4(LMNA):c.357-739T>G variant DOID:3911 progeria IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Hutchinson-Gilford syndrome PMID:23861362|PMID:25741868 10046099 CV189786 NM_000337.6(SGCD):c.91C>G (p.Arg31Gly) variant DOID:0110274 autosomal recessive limb-girdle muscular dystrophy IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy PMID:23861362 10046101 CV189514 NM_001267550.2(TTN):c.79862C>A (p.Thr26621Lys) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early-onset myopathy with fatal cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046101 CV189514 NM_001267550.2(TTN):c.79862C>A (p.Thr26621Lys) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:23861362|PMID:25741868|PMID:28492532 10046101 CV189514 NM_001267550.2(TTN):c.79862C>A (p.Thr26621Lys) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868|PMID:28492532 10046101 CV189514 NM_001267550.2(TTN):c.79862C>A (p.Thr26621Lys) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:23861362|PMID:25741868|PMID:28492532 10046101 CV189514 NM_001267550.2(TTN):c.79862C>A (p.Thr26621Lys) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:23861362|PMID:25741868|PMID:28492532 10046103 CV189636 NM_001267550.2(TTN):c.37461A>T (p.Glu12487Asp) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, early-onset, with fatal cardiomyopathy PMID:23861362|PMID:25741868|PMID:26467025|PMID:28492532 10046103 CV189636 NM_001267550.2(TTN):c.37461A>T (p.Glu12487Asp) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2J PMID:23861362|PMID:25741868|PMID:26467025|PMID:28492532 10046103 CV189636 NM_001267550.2(TTN):c.37461A>T (p.Glu12487Asp) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868|PMID:26467025|PMID:28492532 10046103 CV189636 NM_001267550.2(TTN):c.37461A>T (p.Glu12487Asp) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:23861362|PMID:25741868|PMID:26467025|PMID:28492532 10046103 CV189636 NM_001267550.2(TTN):c.37461A>T (p.Glu12487Asp) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:23861362|PMID:25741868|PMID:26467025|PMID:28492532 10046104 CV189642 NM_001267550.2(TTN):c.36625G>T (p.Val12209Leu) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, early-onset, with fatal cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046104 CV189642 NM_001267550.2(TTN):c.36625G>T (p.Val12209Leu) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2J PMID:23861362|PMID:25741868|PMID:28492532 10046104 CV189642 NM_001267550.2(TTN):c.36625G>T (p.Val12209Leu) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868|PMID:28492532 10046104 CV189642 NM_001267550.2(TTN):c.36625G>T (p.Val12209Leu) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:23861362|PMID:25741868|PMID:28492532 10046104 CV189642 NM_001267550.2(TTN):c.36625G>T (p.Val12209Leu) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:23861362|PMID:25741868|PMID:28492532 10046105 CV189644 NM_001267550.2(TTN):c.36508G>A (p.Glu12170Lys) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, early-onset, with fatal cardiomyopathy PMID:23861362|PMID:25741868|PMID:26467025|PMID:28492532 10046105 CV189644 NM_001267550.2(TTN):c.36508G>A (p.Glu12170Lys) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2J PMID:23861362|PMID:25741868|PMID:26467025|PMID:28492532 10046105 CV189644 NM_001267550.2(TTN):c.36508G>A (p.Glu12170Lys) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868|PMID:26467025|PMID:28492532 10046105 CV189644 NM_001267550.2(TTN):c.36508G>A (p.Glu12170Lys) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:23861362|PMID:25741868|PMID:26467025|PMID:28492532 10046105 CV189644 NM_001267550.2(TTN):c.36508G>A (p.Glu12170Lys) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:23861362|PMID:25741868|PMID:26467025|PMID:28492532 10046106 CV189647 NM_001267550.2(TTN):c.36347A>G (p.Glu12116Gly) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Salih Myopathy PMID:23861362|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29970176 10046106 CV189647 NM_001267550.2(TTN):c.36347A>G (p.Glu12116Gly) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:23861362|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29970176 10046106 CV189647 NM_001267550.2(TTN):c.36347A>G (p.Glu12116Gly) variant DOID:0110315 hypertrophic cardiomyopathy 9 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 9 PMID:23861362|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29970176 10046106 CV189647 NM_001267550.2(TTN):c.36347A>G (p.Glu12116Gly) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29970176 10046106 CV189647 NM_001267550.2(TTN):c.36347A>G (p.Glu12116Gly) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:23861362|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29970176 10046106 CV189647 NM_001267550.2(TTN):c.36347A>G (p.Glu12116Gly) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant PMID:23861362|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29970176 10046107 CV189648 NM_001267550.2(TTN):c.36299A>T (p.Glu12100Val) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, early-onset, with fatal cardiomyopathy PMID:23861362|PMID:25741868|PMID:26467025|PMID:28492532 10046107 CV189648 NM_001267550.2(TTN):c.36299A>T (p.Glu12100Val) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2J PMID:23861362|PMID:25741868|PMID:26467025|PMID:28492532 10046107 CV189648 NM_001267550.2(TTN):c.36299A>T (p.Glu12100Val) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868|PMID:26467025|PMID:28492532 10046107 CV189648 NM_001267550.2(TTN):c.36299A>T (p.Glu12100Val) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:23861362|PMID:25741868|PMID:26467025|PMID:28492532 10046107 CV189648 NM_001267550.2(TTN):c.36299A>T (p.Glu12100Val) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:23861362|PMID:25741868|PMID:26467025|PMID:28492532 10046108 CV190024 NM_000249.4(MLH1):c.37G>A (p.Glu13Lys) variant DOID:0070271 Lynch syndrome 1 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1 PMID:25741868|PMID:26580448|PMID:28466842|PMID:28492532 10046108 CV190024 NM_000249.4(MLH1):c.37G>A (p.Glu13Lys) variant DOID:0070274 hereditary nonpolyposis colorectal cancer type 2 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 2 PMID:25741868|PMID:26580448|PMID:28466842|PMID:28492532 10046108 CV190024 NM_000249.4(MLH1):c.37G>A (p.Glu13Lys) variant DOID:1612 breast cancer IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:25741868|PMID:26580448|PMID:28466842|PMID:28492532 10046108 CV190024 NM_000249.4(MLH1):c.37G>A (p.Glu13Lys) variant DOID:3883 Lynch syndrome IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:25741868|PMID:26580448|PMID:28466842|PMID:28492532 10046108 CV190024 NM_000249.4(MLH1):c.37G>A (p.Glu13Lys) variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer PMID:25741868|PMID:26580448|PMID:28466842|PMID:28492532 10046108 CV190024 NM_000249.4(MLH1):c.37G>A (p.Glu13Lys) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:26580448|PMID:28466842|PMID:28492532 10046109 CV190022 NM_000251.3(MSH2):c.1223A>T (p.Tyr408Phe) variant DOID:0070271 Lynch syndrome 1 IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1 PMID:25741868|PMID:28492532 10046109 CV190022 NM_000251.3(MSH2):c.1223A>T (p.Tyr408Phe) variant DOID:3883 Lynch syndrome IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:25741868|PMID:28492532 10046110 CV190026 NM_000314.8(PTEN):c.389del (p.Arg130fs) variant DOID:0050657 Cowden syndrome 1 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cowden syndrome 1 PMID:17167516|PMID:21194675|PMID:23613428|PMID:25741868|PMID:28492532|PMID:9467011 10046111 CV190029 NM_000455.5(STK11):c.842del (p.Pro281fs) variant DOID:1909 melanoma IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Melanoma PMID:10353780|PMID:15188174|PMID:16287113|PMID:17319781|PMID:20435009|PMID:25741868|PMID:28492532|PMID:9760200 10046111 CV190029 NM_000455.5(STK11):c.842del (p.Pro281fs) variant DOID:2394 ovarian cancer IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Familial ovarian cancer PMID:10353780|PMID:15188174|PMID:16287113|PMID:17319781|PMID:20435009|PMID:25741868|PMID:28492532|PMID:9760200 10046111 CV190029 NM_000455.5(STK11):c.842del (p.Pro281fs) variant DOID:3852 Peutz-Jeghers syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peutz-Jeghers syndrome PMID:10353780|PMID:15188174|PMID:16287113|PMID:17319781|PMID:20435009|PMID:25741868|PMID:28492532|PMID:9760200 10046111 CV190029 NM_000455.5(STK11):c.842del (p.Pro281fs) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10353780|PMID:15188174|PMID:16287113|PMID:17319781|PMID:20435009|PMID:25741868|PMID:28492532|PMID:9760200 10046113 CV189180 NM_000159.4(GCDH):c.885C>T (p.Tyr295=) variant DOID:0111254 glutaric acidemia I IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532 10046114 CV189321 NM_174934.4(SCN4B):c.617C>T (p.Ser206Leu) variant DOID:0110651 long QT syndrome 10 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:20226894|PMID:23465283|PMID:23861362|PMID:25741868|PMID:28492532|PMID:30821358|PMID:31043699 10046114 CV189321 NM_174934.4(SCN4B):c.617C>T (p.Ser206Leu) variant DOID:9007 sudden infant death syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME PMID:20226894|PMID:23465283|PMID:23861362|PMID:25741868|PMID:28492532|PMID:30821358|PMID:31043699 10046115 CV189265 NM_005751.5(AKAP9):c.389C>G (p.Pro130Arg) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:28492532 10046116 CV189269 NM_005751.5(AKAP9):c.1685A>G (p.His562Arg) variant DOID:0110652 long QT syndrome 11 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome 11 PMID:23861362|PMID:25741868|PMID:28492532 10046116 CV189269 NM_005751.5(AKAP9):c.1685A>G (p.His562Arg) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25741868|PMID:28492532 10046117 CV189274 NM_005751.5(AKAP9):c.3950T>C (p.Ile1317Thr) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:28492532 10046118 CV189275 NM_005751.5(AKAP9):c.4156G>T (p.Val1386Phe) variant DOID:0110652 long QT syndrome 11 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome 11 PMID:23861362|PMID:25741868|PMID:28492532 10046118 CV189275 NM_005751.5(AKAP9):c.4156G>T (p.Val1386Phe) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25741868|PMID:28492532 10046119 CV189280 NM_005751.5(AKAP9):c.5234T>C (p.Val1745Ala) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:28492532 10046120 CV189282 NM_005751.5(AKAP9):c.5543C>G (p.Ser1848Cys) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:28492532 10046121 CV189283 NM_005751.5(AKAP9):c.5636T>C (p.Met1879Thr) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:28492532 10046123 CV189289 NM_005751.5(AKAP9):c.7773A>C (p.Gln2591His) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:28492532 10046124 CV189292 NM_005751.5(AKAP9):c.8894A>G (p.Tyr2965Cys) variant DOID:0110652 long QT syndrome 11 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: AKAP9-related condition PMID:23861362|PMID:28492532 10046124 CV189292 NM_005751.5(AKAP9):c.8894A>G (p.Tyr2965Cys) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:28492532 10046125 CV189294 NM_005751.5(AKAP9):c.9577A>G (p.Arg3193Gly) variant DOID:0110652 long QT syndrome 11 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome 11 PMID:23861362|PMID:25741868 10046126 CV189296 NM_005751.5(AKAP9):c.9830T>C (p.Ile3277Thr) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:28492532|PMID:30975432 10046127 CV189301 NM_005751.5(AKAP9):c.10523G>A (p.Cys3508Tyr) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:28492532 10046128 CV189309 NM_005751.5(AKAP9):c.11714T>C (p.Met3905Thr) variant DOID:0110644 long QT syndrome 1 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:23861362|PMID:25741868|PMID:28492532 10046128 CV189309 NM_005751.5(AKAP9):c.11714T>C (p.Met3905Thr) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046128 CV189309 NM_005751.5(AKAP9):c.11714T>C (p.Met3905Thr) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25741868|PMID:28492532 10046128 CV189309 NM_005751.5(AKAP9):c.11714T>C (p.Met3905Thr) variant DOID:9004730 Romano-Ward Syndrome IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome PMID:23861362|PMID:25741868|PMID:28492532 10046129 CV189222 NM_001148.6(ANK2):c.2110C>G (p.Gln704Glu) variant DOID:0111700 ankyrin-B-related cardiac arrhythmia IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: ANKYRIN-B SYNDROME PMID:23861362|PMID:25741868|PMID:28492532|PMID:28750076 10046129 CV189222 NM_001148.6(ANK2):c.2110C>G (p.Gln704Glu) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25741868|PMID:28492532|PMID:28750076 10046130 CV189226 NM_001148.6(ANK2):c.4220A>G (p.Lys1407Arg) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25741868|PMID:28492532 10046132 CV189230 NM_001148.6(ANK2):c.5134C>A (p.Gln1712Lys) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:28492532 10046134 CV189233 NM_001148.6(ANK2):c.5827G>A (p.Gly1943Arg) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:28492532 10046137 CV189241 NM_001148.6(ANK2):c.7436A>G (p.Lys2479Arg) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:28492532|PMID:33762593 10046138 CV189242 NM_001148.6(ANK2):c.7532G>A (p.Arg2511Gln) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:28492532 10046139 CV189243 NM_001148.6(ANK2):c.7942G>C (p.Gly2648Arg) variant DOID:0111700 ankyrin-B-related cardiac arrhythmia IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: ANKYRIN-B SYNDROME PMID:23861362|PMID:28492532 10046139 CV189243 NM_001148.6(ANK2):c.7942G>C (p.Gly2648Arg) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:28492532 10046140 CV189245 NM_001148.6(ANK2):c.8381A>G (p.Gln2794Arg) variant DOID:0111700 ankyrin-B-related cardiac arrhythmia IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia, ankyrin B-related PMID:23861362|PMID:28492532 10046140 CV189245 NM_001148.6(ANK2):c.8381A>G (p.Gln2794Arg) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:28492532 10046141 CV189246 NM_001148.6(ANK2):c.8447G>A (p.Gly2816Asp) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:28492532 10046142 CV189252 NM_001148.6(ANK2):c.9916G>A (p.Val3306Ile) variant DOID:0111700 ankyrin-B-related cardiac arrhythmia IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ANKYRIN-B SYNDROME PMID:23861362|PMID:25741868|PMID:28492532 10046142 CV189252 NM_001148.6(ANK2):c.9916G>A (p.Val3306Ile) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25741868|PMID:28492532 10046143 CV189254 NM_001148.6(ANK2):c.11848G>A (p.Glu3950Lys) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:28492532 10046144 CV189331 NM_000719.7(CACNA1C):c.1031C>T (p.Thr344Ile) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:28492532 10046147 CV189336 NM_000719.7(CACNA1C):c.3946-51C>T variant DOID:0060173 Timothy syndrome IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: CACNA1C-related disorder PMID:23861362|PMID:25741868 10046148 CV189337 NM_000719.7(CACNA1C):c.5329C>T (p.Arg1777Cys) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:27707468|PMID:28492532 10046149 CV189339 NM_000719.7(CACNA1C):c.5408G>C (p.Arg1803Pro) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:28492532 10046151 CV189343 NM_000719.7(CACNA1C):c.5731G>C (p.Gly1911Arg) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:23861362|PMID:25184293|PMID:25741868|PMID:26230511|PMID:26386135|PMID:27502440|PMID:28492532|PMID:29046645|PMID:30345660 10046151 CV189343 NM_000719.7(CACNA1C):c.5731G>C (p.Gly1911Arg) variant DOID:0060173 Timothy syndrome IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Timothy syndrome PMID:23861362|PMID:25184293|PMID:25741868|PMID:26230511|PMID:26386135|PMID:27502440|PMID:28492532|PMID:29046645|PMID:30345660 10046151 CV189343 NM_000719.7(CACNA1C):c.5731G>C (p.Gly1911Arg) variant DOID:0110220 Brugada syndrome 3 IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Brugada syndrome 3 PMID:23861362|PMID:25184293|PMID:25741868|PMID:26230511|PMID:26386135|PMID:27502440|PMID:28492532|PMID:29046645|PMID:30345660 10046151 CV189343 NM_000719.7(CACNA1C):c.5731G>C (p.Gly1911Arg) variant DOID:0110649 long QT syndrome 8 IAGP D RGD:8554872 20240305 ClinVar ClinVar Annotator: match by term: Long qt syndrome 8 PMID:23861362|PMID:25184293|PMID:25741868|PMID:26230511|PMID:26386135|PMID:27502440|PMID:28492532|PMID:29046645|PMID:30345660 10046151 CV189343 NM_000719.7(CACNA1C):c.5731G>C (p.Gly1911Arg) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25184293|PMID:25741868|PMID:26230511|PMID:26386135|PMID:27502440|PMID:28492532|PMID:29046645|PMID:30345660 10046152 CV189344 NM_000719.7(CACNA1C):c.6344G>C (p.Gly2115Ala) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25741868|PMID:28492532 10046153 CV189310 NM_201596.3(CACNB2):c.104T>C (p.Leu35Pro) variant DOID:0110221 Brugada syndrome 4 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Brugada syndrome 4 PMID:23861362|PMID:25741868 10046154 CV189312 NM_201596.3(CACNB2):c.359G>A (p.Arg120Gln) variant DOID:0110221 Brugada syndrome 4 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Brugada syndrome 4 PMID:23861362|PMID:25741868|PMID:28492532 10046155 CV189313 NM_201596.3(CACNB2):c.427G>A (p.Glu143Lys) variant DOID:0110221 Brugada syndrome 4 IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Brugada syndrome 4 PMID:23861362|PMID:28492532 10046159 CV189320 NM_201596.3(CACNB2):c.1892A>G (p.Lys631Arg) variant DOID:0110221 Brugada syndrome 4 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brugada syndrome 4 PMID:23861362|PMID:28492532 10046160 CV189181 NM_001232.4(CASQ2):c.1186G>A (p.Asp396Asn) variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC PMID:23861362|PMID:25741868|PMID:28404607|PMID:28492532|PMID:30615648 10046160 CV189181 NM_001232.4(CASQ2):c.1186G>A (p.Asp396Asn) variant DOID:0060676 catecholaminergic polymorphic ventricular tachycardia 2 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 2 PMID:23861362|PMID:25741868|PMID:28404607|PMID:28492532|PMID:30615648 10046160 CV189181 NM_001232.4(CASQ2):c.1186G>A (p.Asp396Asn) variant DOID:0111073 progressive familial heart block IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Progressive familial heart block PMID:23861362|PMID:25741868|PMID:28404607|PMID:28492532|PMID:30615648 10046161 CV189184 NM_001232.4(CASQ2):c.1052A>G (p.Asp351Gly) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28074886|PMID:28404607|PMID:28492532|PMID:29032884|PMID:33093545 10046161 CV189184 NM_001232.4(CASQ2):c.1052A>G (p.Asp351Gly) variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:23861362|PMID:25741868|PMID:28074886|PMID:28404607|PMID:28492532|PMID:29032884|PMID:33093545 10046161 CV189184 NM_001232.4(CASQ2):c.1052A>G (p.Asp351Gly) variant DOID:0060676 catecholaminergic polymorphic ventricular tachycardia 2 IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 2 PMID:23861362|PMID:25741868|PMID:28074886|PMID:28404607|PMID:28492532|PMID:29032884|PMID:33093545 10046162 CV189185 NM_001232.4(CASQ2):c.752G>A (p.Arg251His) variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:23861362|PMID:25741868|PMID:28158428|PMID:28404607|PMID:28492532|PMID:32693635 10046162 CV189185 NM_001232.4(CASQ2):c.752G>A (p.Arg251His) variant DOID:0060676 catecholaminergic polymorphic ventricular tachycardia 2 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 2 PMID:23861362|PMID:25741868|PMID:28158428|PMID:28404607|PMID:28492532|PMID:32693635 10046164 CV189220 NM_033337.3(CAV3):c.294C>A (p.Cys98Ter) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:18509671|PMID:19238754|PMID:21182936|PMID:23861362|PMID:25741868|PMID:28232187|PMID:28492532|PMID:30153853|PMID:9537420 10046166 CV189208 NM_015141.4(GPD1L):c.415C>T (p.Arg139Cys) variant DOID:0110219 Brugada syndrome 2 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Brugada syndrome 2 PMID:23861362|PMID:25741868 10046168 CV189358 NM_005477.3(HCN4):c.3577G>C (p.Glu1193Gln) variant DOID:0110225 Brugada syndrome 8 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Brugada syndrome 8 PMID:23861362|PMID:26230511|PMID:28492532 10046169 CV189360 NM_005477.3(HCN4):c.3461G>A (p.Arg1154Gln) variant DOID:0110225 Brugada syndrome 8 IAGP D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Brugada syndrome 8 PMID:23861362|PMID:28492532 10046170 CV189361 NM_005477.3(HCN4):c.2545G>T (p.Val849Leu) variant DOID:0110225 Brugada syndrome 8 IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Brugada syndrome 8 PMID:23861362|PMID:28492532 10046171 CV189362 NM_005477.3(HCN4):c.2194G>A (p.Gly732Ser) variant DOID:0110225 Brugada syndrome 8 IAGP D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Brugada syndrome 8 PMID:23861362|PMID:28492532 10046172 CV189363 NM_005477.3(HCN4):c.1896G>A (p.Met632Ile) variant DOID:0110225 Brugada syndrome 8 IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Brugada syndrome 8 PMID:23861362|PMID:28492532 10046173 CV189364 NM_005477.3(HCN4):c.1840G>A (p.Glu614Lys) variant DOID:0110225 Brugada syndrome 8 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brugada syndrome 8 PMID:23861362|PMID:25741868|PMID:28492532|PMID:30986657 10046173 CV189364 NM_005477.3(HCN4):c.1840G>A (p.Glu614Lys) variant DOID:9005141 Ventricular Tachycardia IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:23861362|PMID:25741868|PMID:28492532|PMID:30986657 10046174 CV189345 NM_002234.4(KCNA5):c.251A>C (p.Glu84Ala) variant DOID:9001275 Familial Atrial Fibrillation 7 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 7 PMID:23861362|PMID:25741868|PMID:28492532 10046175 CV189346 NM_002234.4(KCNA5):c.464A>G (p.Tyr155Cys) variant DOID:9001275 Familial Atrial Fibrillation 7 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 7 PMID:23861362|PMID:28492532 10046176 CV189347 NM_002234.4(KCNA5):c.551G>A (p.Arg184His) variant DOID:9001275 Familial Atrial Fibrillation 7 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 7 PMID:23861362|PMID:25741868 10046177 CV189349 NM_002234.4(KCNA5):c.634C>T (p.Arg212Cys) variant DOID:9001275 Familial Atrial Fibrillation 7 IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 7 PMID:23861362|PMID:28492532 10046178 CV189350 NM_002234.4(KCNA5):c.701G>T (p.Arg234Leu) variant DOID:9001275 Familial Atrial Fibrillation 7 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 7 PMID:23861362|PMID:25741868|PMID:28492532 10046179 CV189352 NM_002234.4(KCNA5):c.898G>A (p.Gly300Ser) variant DOID:9001275 Familial Atrial Fibrillation 7 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 7 PMID:23861362|PMID:28492532 10046181 CV189379 NM_000219.6(KCNE1):c.109A>G (p.Ser37Gly) variant DOID:0110647 long QT syndrome 5 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Long QT syndrome 5 PMID:23861362|PMID:25741868|PMID:38816749 10046181 CV189379 NM_000219.6(KCNE1):c.109A>G (p.Ser37Gly) variant DOID:9007577 Jervell And Lange-Nielsen Syndrome 2 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Jervell and Lange-Nielsen syndrome 2 PMID:23861362|PMID:25741868|PMID:38816749 10046182 CV189380 NM_000219.6(KCNE1):c.94C>T (p.Arg32Cys) variant DOID:0110647 long QT syndrome 5 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Long QT syndrome 5 PMID:23382499|PMID:23861362|PMID:24314077|PMID:25741868|PMID:28492532|PMID:28589536|PMID:38489124|PMID:38816749 10046182 CV189380 NM_000219.6(KCNE1):c.94C>T (p.Arg32Cys) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23382499|PMID:23861362|PMID:24314077|PMID:25741868|PMID:28492532|PMID:28589536|PMID:38489124|PMID:38816749 10046183 CV189378 NM_172201.2(KCNE2):c.357C>A (p.Phe119Leu) variant DOID:0110648 long QT syndrome 6 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Long QT syndrome 6 PMID:23861362|PMID:25351510|PMID:28492532 10046184 CV189330 NM_005472.5(KCNE3):c.215T>G (p.Val72Gly) variant DOID:0110223 Brugada syndrome 6 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Brugada syndrome 6 PMID:23861362|PMID:25741868|PMID:28492532 10046185 CV189257 NM_000238.4(KCNH2):c.2674C>T (p.Arg892Cys) variant DOID:0110645 long QT syndrome 2 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 PMID:23861362|PMID:25447171|PMID:25741868|PMID:28492532|PMID:28606196|PMID:30615648 10046185 CV189257 NM_000238.4(KCNH2):c.2674C>T (p.Arg892Cys) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25447171|PMID:25741868|PMID:28492532|PMID:28606196|PMID:30615648 10046185 CV189257 NM_000238.4(KCNH2):c.2674C>T (p.Arg892Cys) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:23861362|PMID:25447171|PMID:25741868|PMID:28492532|PMID:28606196|PMID:30615648 10046186 CV189259 NM_000238.4(KCNH2):c.2398+156G>A variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:23861362|PMID:25741868 10046187 CV189262 NM_000238.4(KCNH2):c.1330G>A (p.Glu444Lys) variant DOID:0110645 long QT syndrome 2 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 PMID:22402074|PMID:23861362|PMID:25741868|PMID:28492532 10046187 CV189262 NM_000238.4(KCNH2):c.1330G>A (p.Glu444Lys) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome PMID:22402074|PMID:23861362|PMID:25741868|PMID:28492532 10046187 CV189262 NM_000238.4(KCNH2):c.1330G>A (p.Glu444Lys) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:22402074|PMID:23861362|PMID:25741868|PMID:28492532 10046188 CV189263 NM_000238.4(KCNH2):c.383A>G (p.Asn128Ser) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25741868|PMID:28492532|PMID:31696929 10046188 CV189263 NM_000238.4(KCNH2):c.383A>G (p.Asn128Ser) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:23861362|PMID:25741868|PMID:28492532|PMID:31696929 10046189 CV189367 NM_000891.3(KCNJ2):c.884T>C (p.Val295Ala) variant DOID:0050434 Andersen-Tawil syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Andersen Tawil syndrome PMID:23861362|PMID:25741868 10046191 CV189328 NM_000218.3(KCNQ1):c.590C>T (p.Pro197Leu) variant DOID:0110644 long QT syndrome 1 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 PMID:23861362|PMID:25741868|PMID:28492532|PMID:29532034|PMID:30571187|PMID:36339618 10046191 CV189328 NM_000218.3(KCNQ1):c.590C>T (p.Pro197Leu) variant DOID:2842 Jervell-Lange Nielsen syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Surdo-cardiac syndrome PMID:23861362|PMID:25741868|PMID:28492532|PMID:29532034|PMID:30571187|PMID:36339618 10046191 CV189328 NM_000218.3(KCNQ1):c.590C>T (p.Pro197Leu) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25741868|PMID:28492532|PMID:29532034|PMID:30571187|PMID:36339618 10046191 CV189328 NM_000218.3(KCNQ1):c.590C>T (p.Pro197Leu) variant DOID:5572 Beckwith-Wiedemann syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: EMG Syndrome PMID:23861362|PMID:25741868|PMID:28492532|PMID:29532034|PMID:30571187|PMID:36339618 10046191 CV189328 NM_000218.3(KCNQ1):c.590C>T (p.Pro197Leu) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:23861362|PMID:25741868|PMID:28492532|PMID:29532034|PMID:30571187|PMID:36339618 10046191 CV189328 NM_000218.3(KCNQ1):c.590C>T (p.Pro197Leu) variant DOID:9001050 Short QT Syndrome 2 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Short QT syndrome type 2 PMID:23861362|PMID:25741868|PMID:28492532|PMID:29532034|PMID:30571187|PMID:36339618 10046191 CV189328 NM_000218.3(KCNQ1):c.590C>T (p.Pro197Leu) variant DOID:9008197 Familial Atrial Fibrillation 3 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 3 PMID:23861362|PMID:25741868|PMID:28492532|PMID:29532034|PMID:30571187|PMID:36339618 10046191 CV189328 NM_000218.3(KCNQ1):c.590C>T (p.Pro197Leu) variant DOID:9009383 Jervell And Lange-Nielsen Syndrome 1 IAGP D RGD:8554872 20250916 ClinVar ClinVar Annotator: match by term: Jervell and Lange-Nielsen syndrome 1 PMID:23861362|PMID:25741868|PMID:28492532|PMID:29532034|PMID:30571187|PMID:36339618 10046192 CV189329 NM_000218.3(KCNQ1):c.721G>A (p.Val241Ile) variant DOID:0110644 long QT syndrome 1 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 PMID:23861362|PMID:25741868|PMID:26669661|PMID:28492532|PMID:30571187 10046192 CV189329 NM_000218.3(KCNQ1):c.721G>A (p.Val241Ile) variant DOID:2842 Jervell-Lange Nielsen syndrome IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: SURDO-CARDIAC SYNDROME PMID:23861362|PMID:25741868|PMID:26669661|PMID:28492532|PMID:30571187 10046192 CV189329 NM_000218.3(KCNQ1):c.721G>A (p.Val241Ile) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25741868|PMID:26669661|PMID:28492532|PMID:30571187 10046192 CV189329 NM_000218.3(KCNQ1):c.721G>A (p.Val241Ile) variant DOID:5572 Beckwith-Wiedemann syndrome IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Exomphalos macroglossia gigantism syndrome PMID:23861362|PMID:25741868|PMID:26669661|PMID:28492532|PMID:30571187 10046192 CV189329 NM_000218.3(KCNQ1):c.721G>A (p.Val241Ile) variant DOID:9001050 Short QT Syndrome 2 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Short QT syndrome type 2 PMID:23861362|PMID:25741868|PMID:26669661|PMID:28492532|PMID:30571187 10046192 CV189329 NM_000218.3(KCNQ1):c.721G>A (p.Val241Ile) variant DOID:9008197 Familial Atrial Fibrillation 3 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 3 PMID:23861362|PMID:25741868|PMID:26669661|PMID:28492532|PMID:30571187 10046192 CV189329 NM_000218.3(KCNQ1):c.721G>A (p.Val241Ile) variant DOID:9009383 Jervell And Lange-Nielsen Syndrome 1 IAGP D RGD:8554872 20250916 ClinVar ClinVar Annotator: match by term: Jervell and Lange-Nielsen syndrome 1 PMID:23861362|PMID:25741868|PMID:26669661|PMID:28492532|PMID:30571187 10046193 CV189187 NM_001035.3(RYR2):c.136C>A (p.Leu46Ile) variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:23861362|PMID:28492532 10046194 CV189188 NM_001035.3(RYR2):c.1509C>A (p.Asp503Glu) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532|PMID:30670673|PMID:32660257 10046194 CV189188 NM_001035.3(RYR2):c.1509C>A (p.Asp503Glu) variant DOID:0060674 catecholaminergic polymorphic ventricular tachycardia IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:23861362|PMID:25741868|PMID:28492532|PMID:30670673|PMID:32660257 10046194 CV189188 NM_001035.3(RYR2):c.1509C>A (p.Asp503Glu) variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:23861362|PMID:25741868|PMID:28492532|PMID:30670673|PMID:32660257 10046195 CV189189 NM_001035.3(RYR2):c.2444C>T (p.Pro815Leu) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:23861362|PMID:25741868|PMID:28492532 10046195 CV189189 NM_001035.3(RYR2):c.2444C>T (p.Pro815Leu) variant DOID:0060674 catecholaminergic polymorphic ventricular tachycardia IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:23861362|PMID:25741868|PMID:28492532 10046195 CV189189 NM_001035.3(RYR2):c.2444C>T (p.Pro815Leu) variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:23861362|PMID:25741868|PMID:28492532 10046195 CV189189 NM_001035.3(RYR2):c.2444C>T (p.Pro815Leu) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome PMID:23861362|PMID:25741868|PMID:28492532 10046196 CV189192 NM_001035.3(RYR2):c.5652G>T (p.Lys1884Asn) variant DOID:0060674 catecholaminergic polymorphic ventricular tachycardia IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:23861362|PMID:25741868|PMID:28492532 10046196 CV189192 NM_001035.3(RYR2):c.5652G>T (p.Lys1884Asn) variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:23861362|PMID:25741868|PMID:28492532 10046197 CV189195 NM_001035.3(RYR2):c.5923A>G (p.Met1975Val) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31539150|PMID:32508047|PMID:33500567 10046197 CV189195 NM_001035.3(RYR2):c.5923A>G (p.Met1975Val) variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31539150|PMID:32508047|PMID:33500567 10046197 CV189195 NM_001035.3(RYR2):c.5923A>G (p.Met1975Val) variant DOID:9001836 Cardiac Conduction Defect IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: cardiac conduction defect PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31539150|PMID:32508047|PMID:33500567 10046197 CV189195 NM_001035.3(RYR2):c.5923A>G (p.Met1975Val) variant DOID:9003163 Heart Block IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Conduction disorder of the heart PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31539150|PMID:32508047|PMID:33500567 10046198 CV189197 NM_001035.3(RYR2):c.7807G>A (p.Ala2603Thr) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046198 CV189197 NM_001035.3(RYR2):c.7807G>A (p.Ala2603Thr) variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:23861362|PMID:25741868|PMID:28492532 10046200 CV189201 NM_001035.3(RYR2):c.10699C>T (p.Arg3567Cys) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046200 CV189201 NM_001035.3(RYR2):c.10699C>T (p.Arg3567Cys) variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:23861362|PMID:25741868|PMID:28492532 10046200 CV189201 NM_001035.3(RYR2):c.10699C>T (p.Arg3567Cys) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: RYR2-related condition PMID:23861362|PMID:25741868|PMID:28492532 10046202 CV189204 NM_001035.3(RYR2):c.13267A>C (p.Lys4423Gln) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:23861362|PMID:25741868|PMID:26272908|PMID:28404607|PMID:28492532 10046202 CV189204 NM_001035.3(RYR2):c.13267A>C (p.Lys4423Gln) variant DOID:0060674 catecholaminergic polymorphic ventricular tachycardia IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:23861362|PMID:25741868|PMID:26272908|PMID:28404607|PMID:28492532 10046202 CV189204 NM_001035.3(RYR2):c.13267A>C (p.Lys4423Gln) variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:23861362|PMID:25741868|PMID:26272908|PMID:28404607|PMID:28492532 10046203 CV189205 NM_001035.3(RYR2):c.13600C>T (p.Pro4534Ser) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:23861362|PMID:25741868|PMID:28492532|PMID:30847666 10046203 CV189205 NM_001035.3(RYR2):c.13600C>T (p.Pro4534Ser) variant DOID:0060674 catecholaminergic polymorphic ventricular tachycardia IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:23861362|PMID:25741868|PMID:28492532|PMID:30847666 10046203 CV189205 NM_001035.3(RYR2):c.13600C>T (p.Pro4534Ser) variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:23861362|PMID:25741868|PMID:28492532|PMID:30847666 10046204 CV189206 NM_001035.3(RYR2):c.13712C>T (p.Thr4571Met) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046204 CV189206 NM_001035.3(RYR2):c.13712C>T (p.Thr4571Met) variant DOID:0060674 catecholaminergic polymorphic ventricular tachycardia IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:23861362|PMID:25741868|PMID:28492532 10046204 CV189206 NM_001035.3(RYR2):c.13712C>T (p.Thr4571Met) variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia PMID:23861362|PMID:25741868|PMID:28492532 10046204 CV189206 NM_001035.3(RYR2):c.13712C>T (p.Thr4571Met) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome PMID:23861362|PMID:25741868|PMID:28492532 10046205 CV189324 NM_004588.5(SCN2B):c.629C>T (p.Pro210Leu) variant DOID:9004100 Familial Atrial Fibrillation 14 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 PMID:23861362|PMID:25741868|PMID:28492532 10046206 CV189325 NM_004588.5(SCN2B):c.118G>A (p.Val40Ile) variant DOID:9004100 Familial Atrial Fibrillation 14 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 PMID:23861362|PMID:26220970|PMID:28492532 10046207 CV189326 NM_004588.5(SCN2B):c.44C>T (p.Thr15Met) variant DOID:9004100 Familial Atrial Fibrillation 14 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 14 PMID:23861362|PMID:25741868|PMID:28492532 10046208 CV189323 NM_174934.4(SCN4B):c.112G>C (p.Ala38Pro) variant DOID:0110651 long QT syndrome 10 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:23861362|PMID:28492532 10046209 CV189211 NM_000335.5(SCN5A):c.5213G>A (p.Arg1738Gln) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:15996170|PMID:23861362|PMID:25741868|PMID:26746457|PMID:28492532|PMID:32893267 10046210 CV189216 NM_000335.5(SCN5A):c.1873G>C (p.Glu625Gln) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Arrhythmia PMID:23861362|PMID:25741868|PMID:28492532 10046211 CV189218 NM_000335.5(SCN5A):c.818T>C (p.Met273Thr) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:23861362|PMID:25741868 10046212 CV189219 NM_000335.5(SCN5A):c.73G>A (p.Glu25Lys) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:23861362|PMID:25741868|PMID:28492532|PMID:28837624 10046213 CV189370 NM_003098.3(SNTA1):c.1330G>A (p.Val444Met) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:28492532 10046215 CV189374 NM_003098.3(SNTA1):c.544G>A (p.Gly182Arg) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:28492532 10046217 CV189376 NM_003098.3(SNTA1):c.375G>C (p.Gln125His) variant DOID:0110653 long QT syndrome 12 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Long QT syndrome 12 PMID:23861362|PMID:25741868|PMID:28492532 10046217 CV189376 NM_003098.3(SNTA1):c.375G>C (p.Gln125His) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25741868|PMID:28492532 10046218 CV189266 NM_005751.5(AKAP9):c.971T>C (p.Ile324Thr) variant DOID:0110644 long QT syndrome 1 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:23861362|PMID:25741868|PMID:28492532 10046218 CV189266 NM_005751.5(AKAP9):c.971T>C (p.Ile324Thr) variant DOID:0110652 long QT syndrome 11 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: AKAP9-related condition PMID:23861362|PMID:25741868|PMID:28492532 10046218 CV189266 NM_005751.5(AKAP9):c.971T>C (p.Ile324Thr) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25741868|PMID:28492532 10046218 CV189266 NM_005751.5(AKAP9):c.971T>C (p.Ile324Thr) variant DOID:9004730 Romano-Ward Syndrome IAGP D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome PMID:23861362|PMID:25741868|PMID:28492532 10046219 CV189271 NM_005751.5(AKAP9):c.2230G>A (p.Glu744Lys) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:28492532 10046220 CV189272 NM_005751.5(AKAP9):c.2581T>C (p.Tyr861His) variant DOID:0110644 long QT syndrome 1 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:23861362|PMID:28492532 10046220 CV189272 NM_005751.5(AKAP9):c.2581T>C (p.Tyr861His) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:28492532 10046220 CV189272 NM_005751.5(AKAP9):c.2581T>C (p.Tyr861His) variant DOID:9004730 Romano-Ward Syndrome IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome PMID:23861362|PMID:28492532 10046221 CV189276 NM_005751.5(AKAP9):c.4190A>G (p.Gln1397Arg) variant DOID:0110644 long QT syndrome 1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:23861362|PMID:24123366|PMID:28492532 10046221 CV189276 NM_005751.5(AKAP9):c.4190A>G (p.Gln1397Arg) variant DOID:0110652 long QT syndrome 11 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: AKAP9-related condition PMID:23861362|PMID:24123366|PMID:28492532 10046221 CV189276 NM_005751.5(AKAP9):c.4190A>G (p.Gln1397Arg) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:24123366|PMID:28492532 10046221 CV189276 NM_005751.5(AKAP9):c.4190A>G (p.Gln1397Arg) variant DOID:9004730 Romano-Ward Syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome PMID:23861362|PMID:24123366|PMID:28492532 10046222 CV189278 NM_005751.5(AKAP9):c.4342A>G (p.Ile1448Val) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:26671970|PMID:28492532 10046223 CV189285 NM_005751.5(AKAP9):c.6037G>A (p.Glu2013Lys) variant DOID:0110644 long QT syndrome 1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:23861362|PMID:28492532 10046223 CV189285 NM_005751.5(AKAP9):c.6037G>A (p.Glu2013Lys) variant DOID:0110652 long QT syndrome 11 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Long QT syndrome 11 PMID:23861362|PMID:28492532 10046223 CV189285 NM_005751.5(AKAP9):c.6037G>A (p.Glu2013Lys) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:28492532 10046223 CV189285 NM_005751.5(AKAP9):c.6037G>A (p.Glu2013Lys) variant DOID:9004730 Romano-Ward Syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome PMID:23861362|PMID:28492532 10046224 CV189286 NM_005751.5(AKAP9):c.6176A>G (p.Glu2059Gly) variant DOID:0110644 long QT syndrome 1 IAGP D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:23861362|PMID:25467552|PMID:25741868|PMID:28492532 10046224 CV189286 NM_005751.5(AKAP9):c.6176A>G (p.Glu2059Gly) variant DOID:0110652 long QT syndrome 11 IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Long QT syndrome 11 PMID:23861362|PMID:25467552|PMID:25741868|PMID:28492532 10046224 CV189286 NM_005751.5(AKAP9):c.6176A>G (p.Glu2059Gly) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25467552|PMID:25741868|PMID:28492532 10046224 CV189286 NM_005751.5(AKAP9):c.6176A>G (p.Glu2059Gly) variant DOID:9004730 Romano-Ward Syndrome IAGP D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome PMID:23861362|PMID:25467552|PMID:25741868|PMID:28492532 10046225 CV189287 NM_005751.5(AKAP9):c.6556T>C (p.Ser2186Pro) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20200407 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046225 CV189287 NM_005751.5(AKAP9):c.6556T>C (p.Ser2186Pro) variant DOID:0110652 long QT syndrome 11 IAGP D RGD:8554872 20200407 ClinVar ClinVar Annotator: match by term: Long QT syndrome 11 PMID:23861362|PMID:25741868|PMID:28492532 10046225 CV189287 NM_005751.5(AKAP9):c.6556T>C (p.Ser2186Pro) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20200407 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25741868|PMID:28492532 10046226 CV189288 NM_005751.5(AKAP9):c.7488T>G (p.Asn2496Lys) variant DOID:0110644 long QT syndrome 1 IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:23861362|PMID:28492532|PMID:30847666 10046226 CV189288 NM_005751.5(AKAP9):c.7488T>G (p.Asn2496Lys) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:28492532|PMID:30847666 10046226 CV189288 NM_005751.5(AKAP9):c.7488T>G (p.Asn2496Lys) variant DOID:9004730 Romano-Ward Syndrome IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome PMID:23861362|PMID:28492532|PMID:30847666 10046227 CV189291 NM_005751.5(AKAP9):c.8286A>C (p.Lys2762Asn) variant DOID:0110652 long QT syndrome 11 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Long QT syndrome 11 PMID:23861362|PMID:26159999|PMID:28492532 10046227 CV189291 NM_005751.5(AKAP9):c.8286A>C (p.Lys2762Asn) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:26159999|PMID:28492532 10046228 CV189295 NM_005751.5(AKAP9):c.9763A>G (p.Arg3255Gly) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046228 CV189295 NM_005751.5(AKAP9):c.9763A>G (p.Arg3255Gly) variant DOID:0110652 long QT syndrome 11 IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Long QT syndrome 11 PMID:23861362|PMID:25741868|PMID:28492532 10046228 CV189295 NM_005751.5(AKAP9):c.9763A>G (p.Arg3255Gly) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome PMID:23861362|PMID:25741868|PMID:28492532 10046229 CV189297 NM_005751.5(AKAP9):c.9929G>A (p.Arg3310Gln) variant DOID:0110644 long QT syndrome 1 IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:23861362|PMID:25741868|PMID:28492532 10046229 CV189297 NM_005751.5(AKAP9):c.9929G>A (p.Arg3310Gln) variant DOID:0110652 long QT syndrome 11 IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Long QT syndrome 11 PMID:23861362|PMID:25741868|PMID:28492532 10046229 CV189297 NM_005751.5(AKAP9):c.9929G>A (p.Arg3310Gln) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25741868|PMID:28492532 10046229 CV189297 NM_005751.5(AKAP9):c.9929G>A (p.Arg3310Gln) variant DOID:9004730 Romano-Ward Syndrome IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome PMID:23861362|PMID:25741868|PMID:28492532 10046230 CV189298 NM_005751.5(AKAP9):c.10249C>T (p.Arg3417Cys) variant DOID:0110652 long QT syndrome 11 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Long QT syndrome 11 PMID:23861362|PMID:28492532|PMID:31847883 10046230 CV189298 NM_005751.5(AKAP9):c.10249C>T (p.Arg3417Cys) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:28492532|PMID:31847883 10046231 CV189300 NM_005751.5(AKAP9):c.10459G>A (p.Glu3487Lys) variant DOID:0110644 long QT syndrome 1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:23861362|PMID:26159999|PMID:28492532|PMID:30847666 10046231 CV189300 NM_005751.5(AKAP9):c.10459G>A (p.Glu3487Lys) variant DOID:0110652 long QT syndrome 11 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Long QT syndrome 11 PMID:23861362|PMID:26159999|PMID:28492532|PMID:30847666 10046231 CV189300 NM_005751.5(AKAP9):c.10459G>A (p.Glu3487Lys) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:26159999|PMID:28492532|PMID:30847666 10046231 CV189300 NM_005751.5(AKAP9):c.10459G>A (p.Glu3487Lys) variant DOID:9004730 Romano-Ward Syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome PMID:23861362|PMID:26159999|PMID:28492532|PMID:30847666 10046232 CV189302 NM_005751.5(AKAP9):c.10672A>G (p.Ile3558Val) variant DOID:0050431 arrhythmogenic right ventricular cardiomyopathy IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:23861362|PMID:25741868|PMID:26159999|PMID:28492532 10046232 CV189302 NM_005751.5(AKAP9):c.10672A>G (p.Ile3558Val) variant DOID:0110644 long QT syndrome 1 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:23861362|PMID:25741868|PMID:26159999|PMID:28492532 10046232 CV189302 NM_005751.5(AKAP9):c.10672A>G (p.Ile3558Val) variant DOID:0110652 long QT syndrome 11 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: AKAP9-related condition PMID:23861362|PMID:25741868|PMID:26159999|PMID:28492532 10046232 CV189302 NM_005751.5(AKAP9):c.10672A>G (p.Ile3558Val) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25741868|PMID:26159999|PMID:28492532 10046232 CV189302 NM_005751.5(AKAP9):c.10672A>G (p.Ile3558Val) variant DOID:9004730 Romano-Ward Syndrome IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome PMID:23861362|PMID:25741868|PMID:26159999|PMID:28492532 10046233 CV189304 NM_005751.5(AKAP9):c.11135G>A (p.Arg3712Gln) variant DOID:0110652 long QT syndrome 11 IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Long QT syndrome 11 PMID:23861362|PMID:25741868|PMID:27707468|PMID:28492532 10046233 CV189304 NM_005751.5(AKAP9):c.11135G>A (p.Arg3712Gln) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25741868|PMID:27707468|PMID:28492532 10046234 CV189305 NM_005751.5(AKAP9):c.11229G>A (p.Met3743Ile) variant DOID:0110644 long QT syndrome 1 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:23861362|PMID:26743238|PMID:28492532|PMID:30276209|PMID:30471092|PMID:30847666|PMID:34088380 10046234 CV189305 NM_005751.5(AKAP9):c.11229G>A (p.Met3743Ile) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:26743238|PMID:28492532|PMID:30276209|PMID:30471092|PMID:30847666|PMID:34088380 10046234 CV189305 NM_005751.5(AKAP9):c.11229G>A (p.Met3743Ile) variant DOID:9004730 Romano-Ward Syndrome IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome PMID:23861362|PMID:26743238|PMID:28492532|PMID:30276209|PMID:30471092|PMID:30847666|PMID:34088380 10046235 CV189306 NM_005751.5(AKAP9):c.11230G>T (p.Gly3744Trp) variant DOID:0110644 long QT syndrome 1 IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:23861362|PMID:25741868|PMID:28492532 10046235 CV189306 NM_005751.5(AKAP9):c.11230G>T (p.Gly3744Trp) variant DOID:0110652 long QT syndrome 11 IAGP D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Long QT syndrome 11 PMID:23861362|PMID:25741868|PMID:28492532 10046235 CV189306 NM_005751.5(AKAP9):c.11230G>T (p.Gly3744Trp) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25741868|PMID:28492532 10046235 CV189306 NM_005751.5(AKAP9):c.11230G>T (p.Gly3744Trp) variant DOID:9004730 Romano-Ward Syndrome IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome PMID:23861362|PMID:25741868|PMID:28492532 10046236 CV189307 NM_005751.5(AKAP9):c.11273G>A (p.Arg3758His) variant DOID:0110652 long QT syndrome 11 IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Long QT syndrome 11 PMID:23861362|PMID:25741868|PMID:28492532 10046236 CV189307 NM_005751.5(AKAP9):c.11273G>A (p.Arg3758His) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046236 CV189307 NM_005751.5(AKAP9):c.11273G>A (p.Arg3758His) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25741868|PMID:28492532 10046236 CV189307 NM_005751.5(AKAP9):c.11273G>A (p.Arg3758His) variant DOID:9120 amyloidosis IAGP D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Amyloid disease PMID:23861362|PMID:25741868|PMID:28492532 10046237 CV189308 NM_005751.5(AKAP9):c.11362G>C (p.Val3788Leu) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:28492532 10046238 CV189221 NM_001148.6(ANK2):c.1177G>A (p.Ala393Thr) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23631430|PMID:23861362|PMID:28492532 10046239 CV189228 NM_001148.6(ANK2):c.4555G>T (p.Ala1519Ser) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:28492532 10046240 CV189229 NM_001148.6(ANK2):c.4745G>A (p.Arg1582Gln) variant DOID:0111700 ankyrin-B-related cardiac arrhythmia IAGP D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: ANKYRIN-B SYNDROME PMID:23396983|PMID:23861362|PMID:25741868|PMID:26159999|PMID:28492532 10046240 CV189229 NM_001148.6(ANK2):c.4745G>A (p.Arg1582Gln) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23396983|PMID:23861362|PMID:25741868|PMID:26159999|PMID:28492532 10046241 CV189231 NM_001148.6(ANK2):c.5371G>A (p.Val1791Ile) variant DOID:0111700 ankyrin-B-related cardiac arrhythmia IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: ANK2-related condition PMID:23861362|PMID:28492532 10046241 CV189231 NM_001148.6(ANK2):c.5371G>A (p.Val1791Ile) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:28492532 10046242 CV189235 NM_001148.6(ANK2):c.6176C>T (p.Thr2059Met) variant DOID:0111700 ankyrin-B-related cardiac arrhythmia IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: ANKYRIN-B SYNDROME PMID:17242276|PMID:23861362|PMID:25351510|PMID:25741868|PMID:28492532 10046242 CV189235 NM_001148.6(ANK2):c.6176C>T (p.Thr2059Met) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:17242276|PMID:23861362|PMID:25351510|PMID:25741868|PMID:28492532 10046243 CV189236 NM_001148.6(ANK2):c.6228G>T (p.Lys2076Asn) variant DOID:0110644 long QT syndrome 1 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:23861362|PMID:25741868|PMID:28074886|PMID:28341588|PMID:28492532|PMID:31862442 10046243 CV189236 NM_001148.6(ANK2):c.6228G>T (p.Lys2076Asn) variant DOID:0111700 ankyrin-B-related cardiac arrhythmia IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: ANKYRIN-B SYNDROME PMID:23861362|PMID:25741868|PMID:28074886|PMID:28341588|PMID:28492532|PMID:31862442 10046243 CV189236 NM_001148.6(ANK2):c.6228G>T (p.Lys2076Asn) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25741868|PMID:28074886|PMID:28341588|PMID:28492532|PMID:31862442 10046243 CV189236 NM_001148.6(ANK2):c.6228G>T (p.Lys2076Asn) variant DOID:9004730 Romano-Ward Syndrome IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:23861362|PMID:25741868|PMID:28074886|PMID:28341588|PMID:28492532|PMID:31862442 10046244 CV189239 NM_001148.6(ANK2):c.6854T>C (p.Ile2285Thr) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:23861362|PMID:25741868|PMID:28492532 10046244 CV189239 NM_001148.6(ANK2):c.6854T>C (p.Ile2285Thr) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25741868|PMID:28492532 10046245 CV189244 NM_001148.6(ANK2):c.8354C>T (p.Ser2785Leu) variant DOID:0111700 ankyrin-B-related cardiac arrhythmia IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: ANKYRIN-B SYNDROME PMID:23861362|PMID:25741868|PMID:28492532 10046245 CV189244 NM_001148.6(ANK2):c.8354C>T (p.Ser2785Leu) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25741868|PMID:28492532 10046246 CV189248 NM_001148.6(ANK2):c.9046G>A (p.Glu3016Lys) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25351510|PMID:25741868|PMID:26159999|PMID:28492532|PMID:28750076 10046246 CV189248 NM_001148.6(ANK2):c.9046G>A (p.Glu3016Lys) variant DOID:0111700 ankyrin-B-related cardiac arrhythmia IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: ANKYRIN-B SYNDROME PMID:23861362|PMID:25351510|PMID:25741868|PMID:26159999|PMID:28492532|PMID:28750076 10046246 CV189248 NM_001148.6(ANK2):c.9046G>A (p.Glu3016Lys) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25351510|PMID:25741868|PMID:26159999|PMID:28492532|PMID:28750076 10046247 CV189258 NM_000238.4(KCNH2):c.2398+178C>T variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Arrhythmia PMID:23861362|PMID:25741868 10046247 CV189258 NM_000238.4(KCNH2):c.2398+178C>T variant DOID:9005764 Short QT Syndrome 1 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: KCNH2-related condition PMID:23861362|PMID:25741868 10046248 CV189260 NM_000238.4(KCNH2):c.2398+16C>T variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25741868|PMID:28492532 10046248 CV189260 NM_000238.4(KCNH2):c.2398+16C>T variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:23861362|PMID:25741868|PMID:28492532 10046248 CV189260 NM_000238.4(KCNH2):c.2398+16C>T variant DOID:9005764 Short QT Syndrome 1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Short QT syndrome type 1 PMID:23861362|PMID:25741868|PMID:28492532 10046249 CV189190 NM_001035.3(RYR2):c.4445G>A (p.Arg1482His) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:23861362|PMID:24033266|PMID:25741868|PMID:28087566|PMID:28404607|PMID:28492532 10046249 CV189190 NM_001035.3(RYR2):c.4445G>A (p.Arg1482His) variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:23861362|PMID:24033266|PMID:25741868|PMID:28087566|PMID:28404607|PMID:28492532 10046250 CV189200 NM_001035.3(RYR2):c.10381A>G (p.Met3461Val) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28404607|PMID:28492532 10046250 CV189200 NM_001035.3(RYR2):c.10381A>G (p.Met3461Val) variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:23861362|PMID:25741868|PMID:28404607|PMID:28492532 10046250 CV189200 NM_001035.3(RYR2):c.10381A>G (p.Met3461Val) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: RYR2-related condition PMID:23861362|PMID:25741868|PMID:28404607|PMID:28492532 10046251 CV189203 NM_001035.3(RYR2):c.12919C>T (p.Arg4307Cys) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:19926015|PMID:23861362|PMID:24025405|PMID:24033266|PMID:25741868|PMID:27538377|PMID:27930701|PMID:28404607|PMID:28492532|PMID:28771489|PMID:32152366|PMID:32746448|PMID:35932045 10046251 CV189203 NM_001035.3(RYR2):c.12919C>T (p.Arg4307Cys) variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:19926015|PMID:23861362|PMID:24025405|PMID:24033266|PMID:25741868|PMID:27538377|PMID:27930701|PMID:28404607|PMID:28492532|PMID:28771489|PMID:32152366|PMID:32746448|PMID:35932045 10046251 CV189203 NM_001035.3(RYR2):c.12919C>T (p.Arg4307Cys) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: RYR2-related condition PMID:19926015|PMID:23861362|PMID:24025405|PMID:24033266|PMID:25741868|PMID:27538377|PMID:27930701|PMID:28404607|PMID:28492532|PMID:28771489|PMID:32152366|PMID:32746448|PMID:35932045 10046252 CV189322 NM_174934.4(SCN4B):c.607G>A (p.Val203Met) variant DOID:0110644 long QT syndrome 1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:23861362|PMID:28492532 10046252 CV189322 NM_174934.4(SCN4B):c.607G>A (p.Val203Met) variant DOID:0110651 long QT syndrome 10 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:23861362|PMID:28492532 10046252 CV189322 NM_174934.4(SCN4B):c.607G>A (p.Val203Met) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:28492532 10046252 CV189322 NM_174934.4(SCN4B):c.607G>A (p.Val203Met) variant DOID:9004730 Romano-Ward Syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Romano-Ward syndrome PMID:23861362|PMID:28492532 10046253 CV189338 NM_000719.7(CACNA1C):c.5383G>A (p.Gly1795Arg) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25741868|PMID:28492532 10046254 CV189341 NM_000719.7(CACNA1C):c.5593G>A (p.Glu1865Lys) variant DOID:0050451 Brugada syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:23861362|PMID:25637381|PMID:25741868|PMID:28492532|PMID:32145446 10046254 CV189341 NM_000719.7(CACNA1C):c.5593G>A (p.Glu1865Lys) variant DOID:0060173 Timothy syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: CACNA1C-related disorder PMID:23861362|PMID:25637381|PMID:25741868|PMID:28492532|PMID:32145446 10046254 CV189341 NM_000719.7(CACNA1C):c.5593G>A (p.Glu1865Lys) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:25637381|PMID:25741868|PMID:28492532|PMID:32145446 10046254 CV189341 NM_000719.7(CACNA1C):c.5593G>A (p.Glu1865Lys) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25637381|PMID:25741868|PMID:28492532|PMID:32145446 10046254 CV189341 NM_000719.7(CACNA1C):c.5593G>A (p.Glu1865Lys) variant DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:23861362|PMID:25637381|PMID:25741868|PMID:28492532|PMID:32145446 10046255 CV189342 NM_000719.7(CACNA1C):c.5609C>T (p.Thr1870Met) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25633834|PMID:25650408|PMID:25741868|PMID:26159999|PMID:26173111|PMID:27711072|PMID:28492532 10046256 CV189897 NM_020297.4(ABCC9):c.3955G>A (p.Val1319Ile) variant DOID:0110451 dilated cardiomyopathy 1O IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1O PMID:23861362|PMID:28492532 10046257 CV189898 NM_020297.4(ABCC9):c.3594G>A (p.Met1198Ile) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:25979592|PMID:28492532 10046257 CV189898 NM_020297.4(ABCC9):c.3594G>A (p.Met1198Ile) variant DOID:0060569 hypertrichotic osteochondrodysplasia Cantu type IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypertrichotic osteochondrodysplasia Cantu type PMID:23861362|PMID:25741868|PMID:25979592|PMID:28492532 10046257 CV189898 NM_020297.4(ABCC9):c.3594G>A (p.Met1198Ile) variant DOID:0070600 intellectual disability and myopathy syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Intellectual disability and myopathy syndrome PMID:23861362|PMID:25741868|PMID:25979592|PMID:28492532 10046257 CV189898 NM_020297.4(ABCC9):c.3594G>A (p.Met1198Ile) variant DOID:0110451 dilated cardiomyopathy 1O IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1O PMID:23861362|PMID:25741868|PMID:25979592|PMID:28492532 10046257 CV189898 NM_020297.4(ABCC9):c.3594G>A (p.Met1198Ile) variant DOID:9002065 Familial Atrial Fibrillation 12 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 12 PMID:23861362|PMID:25741868|PMID:25979592|PMID:28492532 10046259 CV189900 NM_020297.4(ABCC9):c.2813G>A (p.Arg938Gln) variant DOID:0110451 dilated cardiomyopathy 1O IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1O PMID:23861362|PMID:28492532 10046260 CV189901 NM_020297.4(ABCC9):c.2215C>G (p.Pro739Ala) variant DOID:0060569 hypertrichotic osteochondrodysplasia Cantu type IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hypertrichotic osteochondrodysplasia Cantu type PMID:23861362|PMID:25741868|PMID:28492532 10046260 CV189901 NM_020297.4(ABCC9):c.2215C>G (p.Pro739Ala) variant DOID:0110451 dilated cardiomyopathy 1O IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1O PMID:23861362|PMID:25741868|PMID:28492532 10046261 CV189902 NM_020297.4(ABCC9):c.2066C>T (p.Ser689Phe) variant DOID:0110451 dilated cardiomyopathy 1O IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1O PMID:23861362|PMID:28492532 10046262 CV189903 NM_020297.4(ABCC9):c.1981C>T (p.Arg661Cys) variant DOID:0060569 hypertrichotic osteochondrodysplasia Cantu type IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrichotic osteochondrodysplasia Cantu type PMID:23861362|PMID:28492532 10046262 CV189903 NM_020297.4(ABCC9):c.1981C>T (p.Arg661Cys) variant DOID:0110451 dilated cardiomyopathy 1O IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1O PMID:23861362|PMID:28492532 10046263 CV189905 NM_020297.4(ABCC9):c.287G>A (p.Arg96Gln) variant DOID:0110451 dilated cardiomyopathy 1O IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1O PMID:23861362|PMID:28492532 10046264 CV189393 NM_001103.4(ACTN2):c.575G>A (p.Arg192Gln) variant DOID:0080326 familial hypertrophic cardiomyopathy IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy PMID:23861362|PMID:28492532 10046264 CV189393 NM_001103.4(ACTN2):c.575G>A (p.Arg192Gln) variant DOID:0110307 hypertrophic cardiomyopathy 1 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:23861362|PMID:28492532 10046264 CV189393 NM_001103.4(ACTN2):c.575G>A (p.Arg192Gln) variant DOID:0110428 dilated cardiomyopathy 1AA IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1AA PMID:23861362|PMID:28492532 10046265 CV189394 NM_001103.4(ACTN2):c.1312C>T (p.Arg438Trp) variant DOID:0080326 familial hypertrophic cardiomyopathy IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy PMID:23861362|PMID:25741868|PMID:28492532 10046265 CV189394 NM_001103.4(ACTN2):c.1312C>T (p.Arg438Trp) variant DOID:0110307 hypertrophic cardiomyopathy 1 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:23861362|PMID:25741868|PMID:28492532 10046265 CV189394 NM_001103.4(ACTN2):c.1312C>T (p.Arg438Trp) variant DOID:0110428 dilated cardiomyopathy 1AA IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1AA PMID:23861362|PMID:25741868|PMID:28492532 10046265 CV189394 NM_001103.4(ACTN2):c.1312C>T (p.Arg438Trp) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046266 CV189395 NM_001103.4(ACTN2):c.1358C>T (p.Ala453Val) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 10046266 CV189395 NM_001103.4(ACTN2):c.1358C>T (p.Ala453Val) variant DOID:0080326 familial hypertrophic cardiomyopathy IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 10046266 CV189395 NM_001103.4(ACTN2):c.1358C>T (p.Ala453Val) variant DOID:0110307 hypertrophic cardiomyopathy 1 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 10046266 CV189395 NM_001103.4(ACTN2):c.1358C>T (p.Ala453Val) variant DOID:0110428 dilated cardiomyopathy 1AA IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1AA PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 10046267 CV189397 NM_001103.4(ACTN2):c.1444C>T (p.Arg482Trp) variant DOID:0110428 dilated cardiomyopathy 1AA IAGP D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1AA PMID:23861362|PMID:25741868|PMID:28492532 10046268 CV189399 NM_001103.4(ACTN2):c.1586A>G (p.Asn529Ser) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:23861362|PMID:25741868|PMID:28492532|PMID:30165862 10046268 CV189399 NM_001103.4(ACTN2):c.1586A>G (p.Asn529Ser) variant DOID:0080326 familial hypertrophic cardiomyopathy IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy PMID:23861362|PMID:25741868|PMID:28492532|PMID:30165862 10046268 CV189399 NM_001103.4(ACTN2):c.1586A>G (p.Asn529Ser) variant DOID:0110307 hypertrophic cardiomyopathy 1 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:23861362|PMID:25741868|PMID:28492532|PMID:30165862 10046268 CV189399 NM_001103.4(ACTN2):c.1586A>G (p.Asn529Ser) variant DOID:0110428 dilated cardiomyopathy 1AA IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1AA PMID:23861362|PMID:25741868|PMID:28492532|PMID:30165862 10046269 CV189400 NM_001103.4(ACTN2):c.1594A>T (p.Met532Leu) variant DOID:0080326 familial hypertrophic cardiomyopathy IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy PMID:23861362|PMID:28492532 10046269 CV189400 NM_001103.4(ACTN2):c.1594A>T (p.Met532Leu) variant DOID:0110307 hypertrophic cardiomyopathy 1 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:23861362|PMID:28492532 10046269 CV189400 NM_001103.4(ACTN2):c.1594A>T (p.Met532Leu) variant DOID:0110428 dilated cardiomyopathy 1AA IAGP D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1AA PMID:23861362|PMID:28492532 10046271 CV189402 NM_001103.4(ACTN2):c.2552G>A (p.Arg851His) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532|PMID:31983221 10046271 CV189402 NM_001103.4(ACTN2):c.2552G>A (p.Arg851His) variant DOID:0080326 familial hypertrophic cardiomyopathy IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy PMID:23861362|PMID:25741868|PMID:28492532|PMID:31983221 10046271 CV189402 NM_001103.4(ACTN2):c.2552G>A (p.Arg851His) variant DOID:0110307 hypertrophic cardiomyopathy 1 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:23861362|PMID:25741868|PMID:28492532|PMID:31983221 10046271 CV189402 NM_001103.4(ACTN2):c.2552G>A (p.Arg851His) variant DOID:0110428 dilated cardiomyopathy 1AA IAGP D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1AA PMID:23861362|PMID:25741868|PMID:28492532|PMID:31983221 10046271 CV189402 NM_001103.4(ACTN2):c.2552G>A (p.Arg851His) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532|PMID:31983221 10046272 CV189403 NM_001103.4(ACTN2):c.2659G>A (p.Ala887Thr) variant DOID:0080326 familial hypertrophic cardiomyopathy IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy PMID:23861362|PMID:28492532 10046272 CV189403 NM_001103.4(ACTN2):c.2659G>A (p.Ala887Thr) variant DOID:0110307 hypertrophic cardiomyopathy 1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:23861362|PMID:28492532 10046272 CV189403 NM_001103.4(ACTN2):c.2659G>A (p.Ala887Thr) variant DOID:0110428 dilated cardiomyopathy 1AA IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1AA PMID:23861362|PMID:28492532 10046273 CV189881 NM_014391.3(ANKRD1):c.821A>G (p.Tyr274Cys) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:23861362|PMID:28492532 10046274 CV189883 NM_014391.3(ANKRD1):c.328C>T (p.Pro110Ser) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy PMID:23861362|PMID:28492532 10046277 CV189835 NM_004281.4(BAG3):c.368G>A (p.Arg123Gln) variant DOID:0080097 myofibrillar myopathy 6 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 6 PMID:23861362|PMID:25741868|PMID:28359509|PMID:28492532 10046277 CV189835 NM_004281.4(BAG3):c.368G>A (p.Arg123Gln) variant DOID:0110448 dilated cardiomyopathy 1HH IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1HH PMID:23861362|PMID:25741868|PMID:28359509|PMID:28492532 10046278 CV189836 NM_004281.4(BAG3):c.508C>T (p.Arg170Trp) variant DOID:0080097 myofibrillar myopathy 6 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 6 PMID:23861362|PMID:25741868|PMID:28492532|PMID:30847666|PMID:33917638|PMID:38380180 10046278 CV189836 NM_004281.4(BAG3):c.508C>T (p.Arg170Trp) variant DOID:0110448 dilated cardiomyopathy 1HH IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1HH PMID:23861362|PMID:25741868|PMID:28492532|PMID:30847666|PMID:33917638|PMID:38380180 10046281 CV189840 NM_004281.4(BAG3):c.1172C>T (p.Ala391Val) variant DOID:0080097 myofibrillar myopathy 6 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 6 PMID:23861362|PMID:25741868 10046282 CV189841 NM_004281.4(BAG3):c.1321A>G (p.Asn441Asp) variant DOID:0080097 myofibrillar myopathy 6 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 6 PMID:23861362|PMID:28492532 10046282 CV189841 NM_004281.4(BAG3):c.1321A>G (p.Asn441Asp) variant DOID:0110448 dilated cardiomyopathy 1HH IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1HH PMID:23861362|PMID:28492532 10046283 CV190008 NM_145046.5(CALR3):c.215G>A (p.Gly72Asp) variant DOID:0110307 hypertrophic cardiomyopathy 1 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 PMID:23861362|PMID:28492532 10046286 CV189772 NM_001927.4(DES):c.1361G>A (p.Arg454Gln) variant DOID:0080092 myofibrillar myopathy 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:17221859|PMID:22153487|PMID:23861362|PMID:25163546|PMID:25557463|PMID:28492532 10046287 CV189773 NM_001927.4(DES):c.1404A>C (p.Glu468Asp) variant DOID:0080092 myofibrillar myopathy 1 IAGP D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:23861362|PMID:28492532 10046288 CV189979 NM_024422.6(DSC2):c.2335G>A (p.Gly779Arg) variant DOID:0050431 arrhythmogenic right ventricular cardiomyopathy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia PMID:23861362|PMID:25351510|PMID:25741868|PMID:28492532|PMID:31737537 10046288 CV189979 NM_024422.6(DSC2):c.2335G>A (p.Gly779Arg) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:23861362|PMID:25351510|PMID:25741868|PMID:28492532|PMID:31737537 10046288 CV189979 NM_024422.6(DSC2):c.2335G>A (p.Gly779Arg) variant DOID:0110082 arrhythmogenic right ventricular dysplasia 11 IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11 PMID:23861362|PMID:25351510|PMID:25741868|PMID:28492532|PMID:31737537 10046289 CV189980 NM_024422.6(DSC2):c.2314G>A (p.Val772Met) variant DOID:0050431 arrhythmogenic right ventricular cardiomyopathy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia PMID:23861362|PMID:25741868|PMID:28492532|PMID:29590070 10046289 CV189980 NM_024422.6(DSC2):c.2314G>A (p.Val772Met) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:23861362|PMID:25741868|PMID:28492532|PMID:29590070 10046289 CV189980 NM_024422.6(DSC2):c.2314G>A (p.Val772Met) variant DOID:0110082 arrhythmogenic right ventricular dysplasia 11 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 11 PMID:23861362|PMID:25741868|PMID:28492532|PMID:29590070 10046290 CV189981 NM_024422.6(DSC2):c.1707C>A (p.Asp569Glu) variant DOID:0050431 arrhythmogenic right ventricular cardiomyopathy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia PMID:23861362|PMID:25741868|PMID:28492532|PMID:31980526 10046290 CV189981 NM_024422.6(DSC2):c.1707C>A (p.Asp569Glu) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:23861362|PMID:25741868|PMID:28492532|PMID:31980526 10046290 CV189981 NM_024422.6(DSC2):c.1707C>A (p.Asp569Glu) variant DOID:0110082 arrhythmogenic right ventricular dysplasia 11 IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 11 PMID:23861362|PMID:25741868|PMID:28492532|PMID:31980526 10046291 CV189982 NM_024422.6(DSC2):c.1070G>A (p.Arg357His) variant DOID:0050431 arrhythmogenic right ventricular cardiomyopathy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia PMID:23861362|PMID:25741868|PMID:28492532 10046291 CV189982 NM_024422.6(DSC2):c.1070G>A (p.Arg357His) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046291 CV189982 NM_024422.6(DSC2):c.1070G>A (p.Arg357His) variant DOID:0110082 arrhythmogenic right ventricular dysplasia 11 IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 11 PMID:23861362|PMID:25741868|PMID:28492532 10046292 CV189983 NM_024422.6(DSC2):c.857G>T (p.Gly286Val) variant DOID:0050431 arrhythmogenic right ventricular cardiomyopathy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia PMID:23396983|PMID:23861362|PMID:24033266|PMID:25351510|PMID:25741868|PMID:28492532|PMID:32917565|PMID:36293497|PMID:37418234 10046292 CV189983 NM_024422.6(DSC2):c.857G>T (p.Gly286Val) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:23396983|PMID:23861362|PMID:24033266|PMID:25351510|PMID:25741868|PMID:28492532|PMID:32917565|PMID:36293497|PMID:37418234 10046292 CV189983 NM_024422.6(DSC2):c.857G>T (p.Gly286Val) variant DOID:0110082 arrhythmogenic right ventricular dysplasia 11 IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 11 PMID:23396983|PMID:23861362|PMID:24033266|PMID:25351510|PMID:25741868|PMID:28492532|PMID:32917565|PMID:36293497|PMID:37418234 10046293 CV189984 NM_024422.6(DSC2):c.734A>C (p.Glu245Ala) variant DOID:0050431 arrhythmogenic right ventricular cardiomyopathy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia PMID:23861362|PMID:25741868|PMID:28492532 10046293 CV189984 NM_024422.6(DSC2):c.734A>C (p.Glu245Ala) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046293 CV189984 NM_024422.6(DSC2):c.734A>C (p.Glu245Ala) variant DOID:0110082 arrhythmogenic right ventricular dysplasia 11 IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 11 PMID:23861362|PMID:25741868|PMID:28492532 10046294 CV189986 NM_001943.5(DSG2):c.430G>A (p.Glu144Lys) variant DOID:0050431 arrhythmogenic right ventricular cardiomyopathy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:23861362|PMID:25209314|PMID:25741868|PMID:28492532|PMID:30391969|PMID:31737537 10046294 CV189986 NM_001943.5(DSG2):c.430G>A (p.Glu144Lys) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:23861362|PMID:25209314|PMID:25741868|PMID:28492532|PMID:30391969|PMID:31737537 10046294 CV189986 NM_001943.5(DSG2):c.430G>A (p.Glu144Lys) variant DOID:0110081 arrhythmogenic right ventricular dysplasia 10 IAGP D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 10 PMID:23861362|PMID:25209314|PMID:25741868|PMID:28492532|PMID:30391969|PMID:31737537 10046294 CV189986 NM_001943.5(DSG2):c.430G>A (p.Glu144Lys) variant DOID:0110458 dilated cardiomyopathy 1BB IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1BB PMID:23861362|PMID:25209314|PMID:25741868|PMID:28492532|PMID:30391969|PMID:31737537 10046295 CV189988 NM_001943.5(DSG2):c.841G>A (p.Val281Ile) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868 10046296 CV189989 NM_001943.5(DSG2):c.1063G>A (p.Ala355Thr) variant DOID:0050431 arrhythmogenic right ventricular cardiomyopathy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:23861362|PMID:25741868|PMID:28492532 10046296 CV189989 NM_001943.5(DSG2):c.1063G>A (p.Ala355Thr) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046296 CV189989 NM_001943.5(DSG2):c.1063G>A (p.Ala355Thr) variant DOID:0060319 cardiac arrest IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Cardiac arrest PMID:23861362|PMID:25741868|PMID:28492532 10046296 CV189989 NM_001943.5(DSG2):c.1063G>A (p.Ala355Thr) variant DOID:0110081 arrhythmogenic right ventricular dysplasia 10 IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10 PMID:23861362|PMID:25741868|PMID:28492532 10046297 CV189991 NM_001943.5(DSG2):c.1460T>C (p.Ile487Thr) variant DOID:0050431 arrhythmogenic right ventricular cardiomyopathy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046297 CV189991 NM_001943.5(DSG2):c.1460T>C (p.Ile487Thr) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046297 CV189991 NM_001943.5(DSG2):c.1460T>C (p.Ile487Thr) variant DOID:0110081 arrhythmogenic right ventricular dysplasia 10 IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 10 PMID:23861362|PMID:25741868|PMID:28492532 10046298 CV189993 NM_001943.5(DSG2):c.3266G>T (p.Gly1089Val) variant DOID:0050431 arrhythmogenic right ventricular cardiomyopathy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046298 CV189993 NM_001943.5(DSG2):c.3266G>T (p.Gly1089Val) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046298 CV189993 NM_001943.5(DSG2):c.3266G>T (p.Gly1089Val) variant DOID:0110081 arrhythmogenic right ventricular dysplasia 10 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 10 PMID:23861362|PMID:25741868|PMID:28492532 10046299 CV189994 NM_001943.5(DSG2):c.3293C>G (p.Ser1098Cys) variant DOID:0050431 arrhythmogenic right ventricular cardiomyopathy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:20031617|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 10046299 CV189994 NM_001943.5(DSG2):c.3293C>G (p.Ser1098Cys) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:20031617|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 10046299 CV189994 NM_001943.5(DSG2):c.3293C>G (p.Ser1098Cys) variant DOID:0110081 arrhythmogenic right ventricular dysplasia 10 IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 10 PMID:20031617|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 10046300 CV189819 NM_004415.4(DSP):c.386G>A (p.Arg129Gln) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046300 CV189819 NM_004415.4(DSP):c.386G>A (p.Arg129Gln) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Carvajal syndrome PMID:23861362|PMID:25741868|PMID:28492532 10046300 CV189819 NM_004415.4(DSP):c.386G>A (p.Arg129Gln) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 8 PMID:23861362|PMID:25741868|PMID:28492532 10046301 CV189820 NM_004415.4(DSP):c.1630A>C (p.Met544Leu) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046301 CV189820 NM_004415.4(DSP):c.1630A>C (p.Met544Leu) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma PMID:23861362|PMID:25741868|PMID:28492532 10046301 CV189820 NM_004415.4(DSP):c.1630A>C (p.Met544Leu) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 8 PMID:23861362|PMID:25741868|PMID:28492532 10046302 CV189821 NM_004415.4(DSP):c.1942G>T (p.Asp648Tyr) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Carvajal syndrome PMID:23861362|PMID:25741868 10046303 CV189823 NM_004415.4(DSP):c.3221C>A (p.Ala1074Glu) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Carvajal syndrome PMID:23861362|PMID:25741868 10046304 CV189825 NM_004415.4(DSP):c.3600T>G (p.Asn1200Lys) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:23861362|PMID:25741868|PMID:28492532 10046304 CV189825 NM_004415.4(DSP):c.3600T>G (p.Asn1200Lys) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma PMID:23861362|PMID:25741868|PMID:28492532 10046304 CV189825 NM_004415.4(DSP):c.3600T>G (p.Asn1200Lys) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 8 PMID:23861362|PMID:25741868|PMID:28492532 10046305 CV189829 NM_004415.4(DSP):c.5976C>A (p.Asp1992Glu) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma PMID:23861362|PMID:25741868|PMID:28492532 10046305 CV189829 NM_004415.4(DSP):c.5976C>A (p.Asp1992Glu) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 8 PMID:23861362|PMID:25741868|PMID:28492532 10046306 CV189830 NM_004415.4(DSP):c.7021G>A (p.Asp2341Asn) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma PMID:23861362|PMID:28492532 10046306 CV189830 NM_004415.4(DSP):c.7021G>A (p.Asp2341Asn) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 8 PMID:23861362|PMID:28492532 10046307 CV189831 NM_004415.4(DSP):c.7817G>A (p.Ser2606Asn) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046307 CV189831 NM_004415.4(DSP):c.7817G>A (p.Ser2606Asn) variant DOID:0070554 palmoplantar keratoderma and woolly hair IAGP D RGD:8554872 20230620 ClinVar ClinVar Annotator: match by term: Skin fragility woolly hair syndrome PMID:23861362|PMID:25741868|PMID:28492532 10046307 CV189831 NM_004415.4(DSP):c.7817G>A (p.Ser2606Asn) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Carvajal syndrome PMID:23861362|PMID:25741868|PMID:28492532 10046307 CV189831 NM_004415.4(DSP):c.7817G>A (p.Ser2606Asn) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 8 PMID:23861362|PMID:25741868|PMID:28492532 10046307 CV189831 NM_004415.4(DSP):c.7817G>A (p.Ser2606Asn) variant DOID:9002630 Epidermolysis Bullosa, Lethal Acantholytic IAGP D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Lethal acantholytic epidermolysis bullosa PMID:23861362|PMID:25741868|PMID:28492532 10046308 CV189832 NM_004415.4(DSP):c.7864A>G (p.Ile2622Val) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046308 CV189832 NM_004415.4(DSP):c.7864A>G (p.Ile2622Val) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma PMID:23861362|PMID:25741868|PMID:28492532 10046308 CV189832 NM_004415.4(DSP):c.7864A>G (p.Ile2622Val) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 8 PMID:23861362|PMID:25741868|PMID:28492532 10046309 CV189834 NM_004415.4(DSP):c.8462C>T (p.Ser2821Leu) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:21859740|PMID:23861362|PMID:25741868|PMID:28492532|PMID:29802319 10046309 CV189834 NM_004415.4(DSP):c.8462C>T (p.Ser2821Leu) variant DOID:0070554 palmoplantar keratoderma and woolly hair IAGP D RGD:8554872 20230620 ClinVar ClinVar Annotator: match by term: Skin fragility woolly hair syndrome PMID:21859740|PMID:23861362|PMID:25741868|PMID:28492532|PMID:29802319 10046309 CV189834 NM_004415.4(DSP):c.8462C>T (p.Ser2821Leu) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma PMID:21859740|PMID:23861362|PMID:25741868|PMID:28492532|PMID:29802319 10046309 CV189834 NM_004415.4(DSP):c.8462C>T (p.Ser2821Leu) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 8 PMID:21859740|PMID:23861362|PMID:25741868|PMID:28492532|PMID:29802319 10046309 CV189834 NM_004415.4(DSP):c.8462C>T (p.Ser2821Leu) variant DOID:9002630 Epidermolysis Bullosa, Lethal Acantholytic IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Lethal acantholytic epidermolysis bullosa PMID:21859740|PMID:23861362|PMID:25741868|PMID:28492532|PMID:29802319 10046311 CV189996 NM_001386795.1(DTNA):c.295A>G (p.Thr99Ala) variant DOID:9007288 Left Ventricular Noncompaction 1 IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 1 PMID:23861362|PMID:28492532 10046313 CV189998 NM_001386795.1(DTNA):c.904G>A (p.Ala302Thr) variant DOID:9007288 Left Ventricular Noncompaction 1 IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 1 PMID:23861362|PMID:26498160|PMID:28492532|PMID:29875424 10046314 CV189999 NM_001386795.1(DTNA):c.955A>G (p.Met319Val) variant DOID:0061184 myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2 IAGP D RGD:8554872 20250902 ClinVar ClinVar Annotator: match by term: DTNA-related disorder PMID:23861362|PMID:24033266|PMID:28492532 10046314 CV189999 NM_001386795.1(DTNA):c.955A>G (p.Met319Val) variant DOID:9007288 Left Ventricular Noncompaction 1 IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 1 PMID:23861362|PMID:24033266|PMID:28492532 10046315 CV190000 NM_001386795.1(DTNA):c.1652G>A (p.Arg551His) variant DOID:9007288 Left Ventricular Noncompaction 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 1 PMID:23861362|PMID:28492532|PMID:33789662 10046316 CV190001 NM_001386795.1(DTNA):c.1695C>T (p.Ser565=) variant DOID:9007288 Left Ventricular Noncompaction 1 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 1 PMID:23861362|PMID:28492532 10046317 CV190002 NM_001386795.1(DTNA):c.1838C>T (p.Pro613Leu) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:21270786|PMID:23861362|PMID:25741868|PMID:27981572|PMID:28492532|PMID:30086531|PMID:31568572 10046317 CV190002 NM_001386795.1(DTNA):c.1838C>T (p.Pro613Leu) variant DOID:9007288 Left Ventricular Noncompaction 1 IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 1 PMID:21270786|PMID:23861362|PMID:25741868|PMID:27981572|PMID:28492532|PMID:30086531|PMID:31568572 10046319 CV190004 NM_001386795.1(DTNA):c.2039G>A (p.Arg680Gln) variant DOID:9007288 Left Ventricular Noncompaction 1 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 1 PMID:23861362|PMID:28492532|PMID:35148685 10046320 CV189808 NM_004100.5(EYA4):c.2T>C (p.Met1Thr) variant DOID:0110440 dilated cardiomyopathy 1J IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1J PMID:23861362|PMID:28492532 10046321 CV189809 NM_004100.5(EYA4):c.215A>G (p.Asn72Ser) variant DOID:0110440 dilated cardiomyopathy 1J IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: EYA4-related disorder PMID:23861362|PMID:28492532 10046322 CV189810 NM_004100.5(EYA4):c.233C>G (p.Thr78Arg) variant DOID:0110440 dilated cardiomyopathy 1J IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1J PMID:23861362|PMID:25741868|PMID:28492532 10046324 CV189812 NM_004100.5(EYA4):c.887C>T (p.Ser296Leu) variant DOID:0110440 dilated cardiomyopathy 1J IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1J PMID:23861362|PMID:28492532|PMID:32107406 10046325 CV189813 NM_004100.5(EYA4):c.970+16C>G variant DOID:0110440 dilated cardiomyopathy 1J IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1J PMID:23861362|PMID:28492532 10046326 CV189814 NM_004100.5(EYA4):c.978C>G (p.Phe326Leu) variant DOID:0110440 dilated cardiomyopathy 1J IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1J PMID:23861362|PMID:23990876|PMID:25681523|PMID:25741868|PMID:25781927|PMID:28492532|PMID:30165862 10046326 CV189814 NM_004100.5(EYA4):c.978C>G (p.Phe326Leu) variant DOID:0110542 autosomal dominant nonsyndromic deafness 10 IAGP D RGD:8554872 20250723 ClinVar ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 10 PMID:23861362|PMID:23990876|PMID:25681523|PMID:25741868|PMID:25781927|PMID:28492532|PMID:30165862 10046327 CV189815 NM_004100.5(EYA4):c.979G>A (p.Asp327Asn) variant DOID:0110440 dilated cardiomyopathy 1J IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: EYA4-related disorder PMID:23861362|PMID:24033266|PMID:26084686|PMID:28492532|PMID:28831623 10046327 CV189815 NM_004100.5(EYA4):c.979G>A (p.Asp327Asn) variant DOID:0110542 autosomal dominant nonsyndromic deafness 10 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: EYA4-Related Disorders PMID:23861362|PMID:24033266|PMID:26084686|PMID:28492532|PMID:28831623 10046328 CV189817 NM_004100.5(EYA4):c.1603A>G (p.Ile535Val) variant DOID:0110440 dilated cardiomyopathy 1J IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1J PMID:23861362|PMID:28492532 10046329 CV189818 NM_004100.5(EYA4):c.1685A>G (p.Tyr562Cys) variant DOID:0110440 dilated cardiomyopathy 1J IAGP D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1J PMID:23861362|PMID:28492532 10046330 CV190019 NM_020433.5(JPH2):c.*15A>T variant DOID:0110323 hypertrophic cardiomyopathy 17 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 17 PMID:23861362|PMID:25741868 10046331 CV190020 NM_020433.5(JPH2):c.1951A>G (p.Lys651Glu) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:24033266|PMID:28492532 10046333 CV189967 NM_002230.4(JUP):c.1862T>C (p.Ile621Thr) variant DOID:0080551 Naxos disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Naxos disease PMID:23861362|PMID:25363760|PMID:25741868|PMID:28492532|PMID:30775854 10046333 CV189967 NM_002230.4(JUP):c.1862T>C (p.Ile621Thr) variant DOID:0110083 arrhythmogenic right ventricular dysplasia 12 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 12 PMID:23861362|PMID:25363760|PMID:25741868|PMID:28492532|PMID:30775854 10046334 CV189970 NM_002230.4(JUP):c.941C>G (p.Ala314Gly) variant DOID:0080551 Naxos disease IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, ARRHYTHMOGENIC RIGHT VENTRICULAR, WITH SKIN, HAIR, AND NAIL ABNORMALITIES PMID:23861362|PMID:28492532 10046334 CV189970 NM_002230.4(JUP):c.941C>G (p.Ala314Gly) variant DOID:0110083 arrhythmogenic right ventricular dysplasia 12 IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12 PMID:23861362|PMID:28492532 10046335 CV189790 NM_001105206.3(LAMA4):c.4708G>T (p.Asp1570Tyr) variant DOID:0110438 dilated cardiomyopathy 1JJ IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1JJ PMID:23861362|PMID:28492532 10046337 CV189795 NM_001105206.3(LAMA4):c.3029C>T (p.Thr1010Ile) variant DOID:0110438 dilated cardiomyopathy 1JJ IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1JJ PMID:23861362|PMID:28492532 10046340 CV189804 NM_001105206.3(LAMA4):c.676C>T (p.Pro226Ser) variant DOID:0110438 dilated cardiomyopathy 1JJ IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1JJ PMID:23861362|PMID:25741868|PMID:28492532 10046341 CV189872 NM_007078.3(LDB3):c.254G>A (p.Arg85His) variant DOID:0080095 myofibrillar myopathy 4 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 4 PMID:23861362|PMID:25741868|PMID:28492532 10046342 CV189873 NM_007078.3(LDB3):c.443G>A (p.Arg148Gln) variant DOID:0080095 myofibrillar myopathy 4 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 4 PMID:23861362|PMID:25741868|PMID:28492532 10046342 CV189873 NM_007078.3(LDB3):c.443G>A (p.Arg148Gln) variant DOID:0110423 dilated cardiomyopathy 1C IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1C PMID:23861362|PMID:25741868|PMID:28492532 10046343 CV189874 NM_001368067.1(LDB3):c.346G>A (p.Ala116Thr) variant DOID:0080095 myofibrillar myopathy 4 IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 4 PMID:21520333|PMID:23861362|PMID:25741868|PMID:28492532 10046344 CV189875 NM_007078.3(LDB3):c.715G>A (p.Val239Ile) variant DOID:0080095 myofibrillar myopathy 4 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 4 PMID:23861362|PMID:25741868|PMID:26383259|PMID:28492532|PMID:30847666|PMID:31471687 10046344 CV189875 NM_007078.3(LDB3):c.715G>A (p.Val239Ile) variant DOID:0110423 dilated cardiomyopathy 1C IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1C PMID:23861362|PMID:25741868|PMID:26383259|PMID:28492532|PMID:30847666|PMID:31471687 10046345 CV189876 NM_007078.3(LDB3):c.764A>G (p.Lys255Arg) variant DOID:0080095 myofibrillar myopathy 4 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 4 PMID:23785128|PMID:23861362|PMID:28492532 10046346 CV189877 NM_007078.3(LDB3):c.887G>A (p.Arg296Gln) variant DOID:0080095 myofibrillar myopathy 4 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 4 PMID:23861362|PMID:25741868|PMID:28492532 10046347 CV189880 NM_007078.3(LDB3):c.1736A>G (p.Tyr579Cys) variant DOID:0080095 myofibrillar myopathy 4 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 4 PMID:23861362|PMID:25741868|PMID:28492532 10046348 CV189382 NM_170707.4(LMNA):c.730G>A (p.Ala244Thr) variant DOID:0050539 Charcot-Marie-Tooth disease type 2 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:23861362|PMID:28492532|PMID:29095976 10046349 CV189383 NM_170707.4(LMNA):c.1017G>A (p.Ala339=) variant DOID:0050539 Charcot-Marie-Tooth disease type 2 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 PMID:23861362|PMID:25741868|PMID:28492532 10046349 CV189383 NM_170707.4(LMNA):c.1017G>A (p.Ala339=) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046349 CV189383 NM_170707.4(LMNA):c.1017G>A (p.Ala339=) variant DOID:10595 Charcot-Marie-Tooth disease IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:23861362|PMID:25741868|PMID:28492532 10046350 CV189887 NM_000256.3(MYBPC3):c.3148G>A (p.Glu1050Lys) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046350 CV189887 NM_000256.3(MYBPC3):c.3148G>A (p.Glu1050Lys) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046351 CV189889 NM_000256.3(MYBPC3):c.640G>A (p.Asp214Asn) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:23861362|PMID:25741868|PMID:28492532|PMID:28518168|PMID:28771489|PMID:30847666|PMID:33782553|PMID:37652022 10046351 CV189889 NM_000256.3(MYBPC3):c.640G>A (p.Asp214Asn) variant DOID:0110310 hypertrophic cardiomyopathy 4 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4 PMID:23861362|PMID:25741868|PMID:28492532|PMID:28518168|PMID:28771489|PMID:30847666|PMID:33782553|PMID:37652022 10046351 CV189889 NM_000256.3(MYBPC3):c.640G>A (p.Asp214Asn) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532|PMID:28518168|PMID:28771489|PMID:30847666|PMID:33782553|PMID:37652022 10046352 CV189890 NM_000256.3(MYBPC3):c.631G>A (p.Asp211Asn) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28771489 10046352 CV189890 NM_000256.3(MYBPC3):c.631G>A (p.Asp211Asn) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28771489 10046353 CV189929 NM_002471.4(MYH6):c.5140C>T (p.Arg1714Trp) variant DOID:0110320 hypertrophic cardiomyopathy 14 IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 14 PMID:23396983|PMID:23861362|PMID:25351510|PMID:28492532|PMID:32880476 10046354 CV189930 NM_002471.4(MYH6):c.5135G>T (p.Ser1712Ile) variant DOID:0110108 atrial heart septal defect 3 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Atrial septal defect 3 PMID:23861362|PMID:25741868|PMID:28492532 10046354 CV189930 NM_002471.4(MYH6):c.5135G>T (p.Ser1712Ile) variant DOID:0110307 hypertrophic cardiomyopathy 1 IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 PMID:23861362|PMID:25741868|PMID:28492532 10046354 CV189930 NM_002471.4(MYH6):c.5135G>T (p.Ser1712Ile) variant DOID:0110320 hypertrophic cardiomyopathy 14 IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 14 PMID:23861362|PMID:25741868|PMID:28492532 10046354 CV189930 NM_002471.4(MYH6):c.5135G>T (p.Ser1712Ile) variant DOID:0110453 dilated cardiomyopathy 1EE IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1EE PMID:23861362|PMID:25741868|PMID:28492532 10046354 CV189930 NM_002471.4(MYH6):c.5135G>T (p.Ser1712Ile) variant DOID:9001215 Sick Sinus Syndrome 3 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Sick sinus syndrome 3, susceptibility to PMID:23861362|PMID:25741868|PMID:28492532 10046355 CV189931 NM_002471.4(MYH6):c.4822C>T (p.Arg1608Cys) variant DOID:0110108 atrial heart septal defect 3 IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Atrial septal defect 3 PMID:23861362|PMID:25741868|PMID:28492532|PMID:29332214|PMID:34426522 10046355 CV189931 NM_002471.4(MYH6):c.4822C>T (p.Arg1608Cys) variant DOID:0110307 hypertrophic cardiomyopathy 1 IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 PMID:23861362|PMID:25741868|PMID:28492532|PMID:29332214|PMID:34426522 10046355 CV189931 NM_002471.4(MYH6):c.4822C>T (p.Arg1608Cys) variant DOID:0110320 hypertrophic cardiomyopathy 14 IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 14 PMID:23861362|PMID:25741868|PMID:28492532|PMID:29332214|PMID:34426522 10046355 CV189931 NM_002471.4(MYH6):c.4822C>T (p.Arg1608Cys) variant DOID:0110453 dilated cardiomyopathy 1EE IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1EE PMID:23861362|PMID:25741868|PMID:28492532|PMID:29332214|PMID:34426522 10046355 CV189931 NM_002471.4(MYH6):c.4822C>T (p.Arg1608Cys) variant DOID:9001215 Sick Sinus Syndrome 3 IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Sick sinus syndrome 3, susceptibility to PMID:23861362|PMID:25741868|PMID:28492532|PMID:29332214|PMID:34426522 10046356 CV189932 NM_002471.4(MYH6):c.4429C>T (p.Arg1477Cys) variant DOID:0110108 atrial heart septal defect 3 IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Atrial septal defect 3 PMID:22194935|PMID:23861362|PMID:24123366|PMID:25741868|PMID:28492532|PMID:30847666|PMID:30975432|PMID:34598319 10046356 CV189932 NM_002471.4(MYH6):c.4429C>T (p.Arg1477Cys) variant DOID:0110307 hypertrophic cardiomyopathy 1 IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 PMID:22194935|PMID:23861362|PMID:24123366|PMID:25741868|PMID:28492532|PMID:30847666|PMID:30975432|PMID:34598319 10046356 CV189932 NM_002471.4(MYH6):c.4429C>T (p.Arg1477Cys) variant DOID:0110320 hypertrophic cardiomyopathy 14 IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 14 PMID:22194935|PMID:23861362|PMID:24123366|PMID:25741868|PMID:28492532|PMID:30847666|PMID:30975432|PMID:34598319 10046356 CV189932 NM_002471.4(MYH6):c.4429C>T (p.Arg1477Cys) variant DOID:0110453 dilated cardiomyopathy 1EE IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1EE PMID:22194935|PMID:23861362|PMID:24123366|PMID:25741868|PMID:28492532|PMID:30847666|PMID:30975432|PMID:34598319 10046356 CV189932 NM_002471.4(MYH6):c.4429C>T (p.Arg1477Cys) variant DOID:9001215 Sick Sinus Syndrome 3 IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Sick sinus syndrome 3, susceptibility to PMID:22194935|PMID:23861362|PMID:24123366|PMID:25741868|PMID:28492532|PMID:30847666|PMID:30975432|PMID:34598319 10046357 CV189933 NM_002471.4(MYH6):c.4193G>A (p.Arg1398Gln) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:23861362|PMID:24033266|PMID:24082139|PMID:25351510|PMID:25500235|PMID:25741868|PMID:26350513|PMID:26383259|PMID:26656175|PMID:28087566|PMID:28492532|PMID:29332214|PMID:29517769|PMID:30847666|PMID:30975432|PMID:36178741 10046357 CV189933 NM_002471.4(MYH6):c.4193G>A (p.Arg1398Gln) variant DOID:0110320 hypertrophic cardiomyopathy 14 IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 14 PMID:23861362|PMID:24033266|PMID:24082139|PMID:25351510|PMID:25500235|PMID:25741868|PMID:26350513|PMID:26383259|PMID:26656175|PMID:28087566|PMID:28492532|PMID:29332214|PMID:29517769|PMID:30847666|PMID:30975432|PMID:36178741 10046358 CV189934 NM_002471.4(MYH6):c.4026C>A (p.Cys1342Ter) variant DOID:0110320 hypertrophic cardiomyopathy 14 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 14 PMID:23861362|PMID:28492532 10046359 CV189935 NM_002471.4(MYH6):c.3988G>A (p.Ala1330Thr) variant DOID:0110320 hypertrophic cardiomyopathy 14 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 14 PMID:23861362|PMID:25741868|PMID:28492532 10046359 CV189935 NM_002471.4(MYH6):c.3988G>A (p.Ala1330Thr) variant DOID:6000 congestive heart failure IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Congestive heart failure PMID:23861362|PMID:25741868|PMID:28492532 10046361 CV189937 NM_002471.4(MYH6):c.3448G>A (p.Glu1150Lys) variant DOID:0110320 hypertrophic cardiomyopathy 14 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 14 PMID:23861362|PMID:28492532 10046362 CV189938 NM_002471.4(MYH6):c.3346C>A (p.Arg1116Ser) variant DOID:0110108 atrial heart septal defect 3 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Atrial septal defect 3 PMID:20656787|PMID:23861362|PMID:25351510|PMID:25741868|PMID:28492532|PMID:30847666|PMID:32880476 10046362 CV189938 NM_002471.4(MYH6):c.3346C>A (p.Arg1116Ser) variant DOID:0110307 hypertrophic cardiomyopathy 1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 PMID:20656787|PMID:23861362|PMID:25351510|PMID:25741868|PMID:28492532|PMID:30847666|PMID:32880476 10046362 CV189938 NM_002471.4(MYH6):c.3346C>A (p.Arg1116Ser) variant DOID:0110320 hypertrophic cardiomyopathy 14 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 14 PMID:20656787|PMID:23861362|PMID:25351510|PMID:25741868|PMID:28492532|PMID:30847666|PMID:32880476 10046362 CV189938 NM_002471.4(MYH6):c.3346C>A (p.Arg1116Ser) variant DOID:0110453 dilated cardiomyopathy 1EE IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1EE PMID:20656787|PMID:23861362|PMID:25351510|PMID:25741868|PMID:28492532|PMID:30847666|PMID:32880476 10046362 CV189938 NM_002471.4(MYH6):c.3346C>A (p.Arg1116Ser) variant DOID:9001215 Sick Sinus Syndrome 3 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Sick sinus syndrome 3, susceptibility to PMID:20656787|PMID:23861362|PMID:25351510|PMID:25741868|PMID:28492532|PMID:30847666|PMID:32880476 10046363 CV189940 NM_002471.4(MYH6):c.2575G>T (p.Gly859Trp) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532|PMID:30847666|PMID:31847883|PMID:33874732 10046363 CV189940 NM_002471.4(MYH6):c.2575G>T (p.Gly859Trp) variant DOID:0110108 atrial heart septal defect 3 IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Atrial septal defect 3 PMID:23861362|PMID:25741868|PMID:28492532|PMID:30847666|PMID:31847883|PMID:33874732 10046363 CV189940 NM_002471.4(MYH6):c.2575G>T (p.Gly859Trp) variant DOID:0110307 hypertrophic cardiomyopathy 1 IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:23861362|PMID:25741868|PMID:28492532|PMID:30847666|PMID:31847883|PMID:33874732 10046363 CV189940 NM_002471.4(MYH6):c.2575G>T (p.Gly859Trp) variant DOID:0110320 hypertrophic cardiomyopathy 14 IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 14 PMID:23861362|PMID:25741868|PMID:28492532|PMID:30847666|PMID:31847883|PMID:33874732 10046363 CV189940 NM_002471.4(MYH6):c.2575G>T (p.Gly859Trp) variant DOID:0110453 dilated cardiomyopathy 1EE IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1EE PMID:23861362|PMID:25741868|PMID:28492532|PMID:30847666|PMID:31847883|PMID:33874732 10046363 CV189940 NM_002471.4(MYH6):c.2575G>T (p.Gly859Trp) variant DOID:114 heart disease IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Heart disease PMID:23861362|PMID:25741868|PMID:28492532|PMID:30847666|PMID:31847883|PMID:33874732 10046363 CV189940 NM_002471.4(MYH6):c.2575G>T (p.Gly859Trp) variant DOID:9001215 Sick Sinus Syndrome 3 IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Sick sinus syndrome 3, susceptibility to PMID:23861362|PMID:25741868|PMID:28492532|PMID:30847666|PMID:31847883|PMID:33874732 10046364 CV189943 NM_002471.4(MYH6):c.1328G>A (p.Arg443His) variant DOID:0110320 hypertrophic cardiomyopathy 14 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 14 PMID:23396983|PMID:23861362|PMID:25741868|PMID:27789736|PMID:28492532|PMID:28549997|PMID:29420653|PMID:29687901|PMID:29697798|PMID:31376648|PMID:32656206 10046365 CV189944 NM_002471.4(MYH6):c.731G>A (p.Arg244His) variant DOID:0110320 hypertrophic cardiomyopathy 14 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 14 PMID:23861362|PMID:25741868|PMID:28492532|PMID:30029678|PMID:30293987|PMID:30847666 10046366 CV189945 NM_002471.4(MYH6):c.421G>A (p.Ala141Thr) variant DOID:0110320 hypertrophic cardiomyopathy 14 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 14 PMID:23861362|PMID:28492532|PMID:31983221|PMID:37477868 10046367 CV189946 NM_002471.4(MYH6):c.121G>A (p.Asp41Asn) variant DOID:0110320 hypertrophic cardiomyopathy 14 IAGP D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 14 PMID:23861362|PMID:28492532 10046368 CV189947 NM_002471.4(MYH6):c.115G>A (p.Val39Met) variant DOID:0110108 atrial heart septal defect 3 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Atrial septal defect 3 PMID:23861362|PMID:25741868|PMID:28087566|PMID:28492532|PMID:29582157|PMID:31983221 10046368 CV189947 NM_002471.4(MYH6):c.115G>A (p.Val39Met) variant DOID:0110307 hypertrophic cardiomyopathy 1 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 PMID:23861362|PMID:25741868|PMID:28087566|PMID:28492532|PMID:29582157|PMID:31983221 10046368 CV189947 NM_002471.4(MYH6):c.115G>A (p.Val39Met) variant DOID:0110320 hypertrophic cardiomyopathy 14 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 14 PMID:23861362|PMID:25741868|PMID:28087566|PMID:28492532|PMID:29582157|PMID:31983221 10046368 CV189947 NM_002471.4(MYH6):c.115G>A (p.Val39Met) variant DOID:0110453 dilated cardiomyopathy 1EE IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1EE PMID:23861362|PMID:25741868|PMID:28087566|PMID:28492532|PMID:29582157|PMID:31983221 10046368 CV189947 NM_002471.4(MYH6):c.115G>A (p.Val39Met) variant DOID:9001215 Sick Sinus Syndrome 3 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Sick sinus syndrome 3, susceptibility to PMID:23861362|PMID:25741868|PMID:28087566|PMID:28492532|PMID:29582157|PMID:31983221 10046369 CV189948 NM_000257.4(MYH7):c.5527A>G (p.Ser1843Gly) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532|PMID:29853478|PMID:30297972|PMID:30847666|PMID:33495597 10046369 CV189948 NM_000257.4(MYH7):c.5527A>G (p.Ser1843Gly) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532|PMID:29853478|PMID:30297972|PMID:30847666|PMID:33495597 10046372 CV189951 NM_000257.4(MYH7):c.4321G>T (p.Ala1441Ser) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:23861362|PMID:25741868|PMID:28492532|PMID:37652022 10046372 CV189951 NM_000257.4(MYH7):c.4321G>T (p.Ala1441Ser) variant DOID:0060253 scapuloperoneal myopathy IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Scapuloperoneal myopathy PMID:23861362|PMID:25741868|PMID:28492532|PMID:37652022 10046372 CV189951 NM_000257.4(MYH7):c.4321G>T (p.Ala1441Ser) variant DOID:0070197 distal myopathy 1 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Myopathy, distal, 1 PMID:23861362|PMID:25741868|PMID:28492532|PMID:37652022 10046372 CV189951 NM_000257.4(MYH7):c.4321G>T (p.Ala1441Ser) variant DOID:0080102 congenital myopathy 4A IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion PMID:23861362|PMID:25741868|PMID:28492532|PMID:37652022 10046372 CV189951 NM_000257.4(MYH7):c.4321G>T (p.Ala1441Ser) variant DOID:0110307 hypertrophic cardiomyopathy 1 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 PMID:23861362|PMID:25741868|PMID:28492532|PMID:37652022 10046372 CV189951 NM_000257.4(MYH7):c.4321G>T (p.Ala1441Ser) variant DOID:0110454 dilated cardiomyopathy 1S IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1S PMID:23861362|PMID:25741868|PMID:28492532|PMID:37652022 10046372 CV189951 NM_000257.4(MYH7):c.4321G>T (p.Ala1441Ser) variant DOID:0111267 hyaline body myopathy IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Myosin storage myopathy PMID:23861362|PMID:25741868|PMID:28492532|PMID:37652022 10046372 CV189951 NM_000257.4(MYH7):c.4321G>T (p.Ala1441Ser) variant DOID:0111268 autosomal recessive hyaline body myopathy IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Myopathy, myosin storage, autosomal recessive PMID:23861362|PMID:25741868|PMID:28492532|PMID:37652022 10046372 CV189951 NM_000257.4(MYH7):c.4321G>T (p.Ala1441Ser) variant DOID:0111269 autosomal dominant hyaline body myopathy IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Scapuloperoneal myopathy, MYH7-related PMID:23861362|PMID:25741868|PMID:28492532|PMID:37652022 10046372 CV189951 NM_000257.4(MYH7):c.4321G>T (p.Ala1441Ser) variant DOID:11720 distal myopathy IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY PMID:23861362|PMID:25741868|PMID:28492532|PMID:37652022 10046372 CV189951 NM_000257.4(MYH7):c.4321G>T (p.Ala1441Ser) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532|PMID:37652022 10046372 CV189951 NM_000257.4(MYH7):c.4321G>T (p.Ala1441Ser) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant PMID:23861362|PMID:25741868|PMID:28492532|PMID:37652022 10046372 CV189951 NM_000257.4(MYH7):c.4321G>T (p.Ala1441Ser) variant DOID:422 congenital structural myopathy IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy PMID:23861362|PMID:25741868|PMID:28492532|PMID:37652022 10046372 CV189951 NM_000257.4(MYH7):c.4321G>T (p.Ala1441Ser) variant DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532|PMID:37652022 10046372 CV189951 NM_000257.4(MYH7):c.4321G>T (p.Ala1441Ser) variant DOID:9007820 Sudden Death IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Sudden unexplained death PMID:23861362|PMID:25741868|PMID:28492532|PMID:37652022 10046373 CV189953 NM_000257.4(MYH7):c.3730A>C (p.Asn1244His) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532|PMID:33495596 10046373 CV189953 NM_000257.4(MYH7):c.3730A>C (p.Asn1244His) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532|PMID:33495596 10046374 CV189955 NM_000257.4(MYH7):c.3055A>G (p.Thr1019Ala) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:15769782|PMID:23861362|PMID:24033266|PMID:25342278|PMID:25741868 10046375 CV189892 NM_000432.4(MYL2):c.433G>A (p.Asp145Asn) variant DOID:0050431 arrhythmogenic right ventricular cardiomyopathy IAGP D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:23861362|PMID:25741868|PMID:28492532|PMID:28611029|PMID:35629155 10046375 CV189892 NM_000432.4(MYL2):c.433G>A (p.Asp145Asn) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:23861362|PMID:25741868|PMID:28492532|PMID:28611029|PMID:35629155 10046375 CV189892 NM_000432.4(MYL2):c.433G>A (p.Asp145Asn) variant DOID:0110316 hypertrophic cardiomyopathy 10 IAGP D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 10 PMID:23861362|PMID:25741868|PMID:28492532|PMID:28611029|PMID:35629155 10046375 CV189892 NM_000432.4(MYL2):c.433G>A (p.Asp145Asn) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532|PMID:28611029|PMID:35629155 10046376 CV190012 NM_033118.4(MYLK2):c.134C>T (p.Pro45Leu) variant DOID:0110307 hypertrophic cardiomyopathy 1 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 PMID:23861362|PMID:25741868|PMID:28492532 10046377 CV190013 NM_033118.4(MYLK2):c.194C>T (p.Thr65Ile) variant DOID:0110307 hypertrophic cardiomyopathy 1 IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 PMID:23861362|PMID:28492532 10046378 CV190014 NM_033118.4(MYLK2):c.226C>T (p.Pro76Ser) variant DOID:0110307 hypertrophic cardiomyopathy 1 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 PMID:23861362|PMID:28492532 10046379 CV190017 NM_033118.4(MYLK2):c.834T>A (p.Asn278Lys) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 10046379 CV190017 NM_033118.4(MYLK2):c.834T>A (p.Asn278Lys) variant DOID:0110307 hypertrophic cardiomyopathy 1 IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 10046379 CV190017 NM_033118.4(MYLK2):c.834T>A (p.Asn278Lys) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 10046380 CV190018 NM_033118.4(MYLK2):c.1700G>A (p.Arg567Lys) variant DOID:0110307 hypertrophic cardiomyopathy 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 PMID:23861362|PMID:28492532 10046381 CV189781 NM_016599.5(MYOZ2):c.302C>A (p.Ser101Ter) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532|PMID:31534214 10046381 CV189781 NM_016599.5(MYOZ2):c.302C>A (p.Ser101Ter) variant DOID:0110322 hypertrophic cardiomyopathy 16 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 16 PMID:23861362|PMID:25741868|PMID:28492532|PMID:31534214 10046381 CV189781 NM_016599.5(MYOZ2):c.302C>A (p.Ser101Ter) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532|PMID:31534214 10046383 CV189783 NM_016599.5(MYOZ2):c.666T>A (p.Phe222Leu) variant DOID:0110322 hypertrophic cardiomyopathy 16 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 16 PMID:23861362|PMID:25741868 10046384 CV189784 NM_016599.5(MYOZ2):c.674C>T (p.Pro225Leu) variant DOID:0110322 hypertrophic cardiomyopathy 16 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 16 PMID:23861362|PMID:25741868|PMID:28492532|PMID:28798025 10046384 CV189784 NM_016599.5(MYOZ2):c.674C>T (p.Pro225Leu) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532|PMID:28798025 10046385 CV189843 NM_032578.4(MYPN):c.185A>C (p.Asp62Ala) variant DOID:0110445 dilated cardiomyopathy 1KK IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1KK PMID:23861362|PMID:25741868|PMID:28492532 10046385 CV189843 NM_032578.4(MYPN):c.185A>C (p.Asp62Ala) variant DOID:0110933 nemaline myopathy 11 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 11, autosomal recessive PMID:23861362|PMID:25741868|PMID:28492532 10046386 CV189844 NM_032578.4(MYPN):c.392G>T (p.Ser131Ile) variant DOID:0110445 dilated cardiomyopathy 1KK IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1KK PMID:23861362|PMID:28492532 10046387 CV189845 NM_032578.4(MYPN):c.662A>T (p.Asp221Val) variant DOID:0110445 dilated cardiomyopathy 1KK IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1KK PMID:23861362|PMID:26350513|PMID:27662471|PMID:28492532|PMID:28831623|PMID:30847666|PMID:33552729|PMID:34426522 10046388 CV189847 NM_032578.4(MYPN):c.1130G>A (p.Arg377Gln) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532|PMID:34935411 10046388 CV189847 NM_032578.4(MYPN):c.1130G>A (p.Arg377Gln) variant DOID:0110445 dilated cardiomyopathy 1KK IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1KK PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532|PMID:34935411 10046390 CV189850 NM_032578.4(MYPN):c.1858A>G (p.Thr620Ala) variant DOID:0110445 dilated cardiomyopathy 1KK IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1KK PMID:23861362|PMID:28492532|PMID:30531895 10046391 CV189851 NM_032578.4(MYPN):c.2042C>T (p.Pro681Leu) variant DOID:0110445 dilated cardiomyopathy 1KK IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1KK PMID:23861362|PMID:28492532 10046392 CV189852 NM_032578.4(MYPN):c.2260A>C (p.Ile754Leu) variant DOID:0110445 dilated cardiomyopathy 1KK IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1KK PMID:23861362|PMID:24033266|PMID:28492532 10046393 CV189853 NM_032578.4(MYPN):c.2560T>A (p.Ser854Thr) variant DOID:0110445 dilated cardiomyopathy 1KK IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1KK PMID:23861362|PMID:25741868|PMID:28492532 10046394 CV189854 NM_032578.4(MYPN):c.2756G>A (p.Arg919His) variant DOID:0110445 dilated cardiomyopathy 1KK IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1KK PMID:23861362|PMID:25741868|PMID:28492532 10046394 CV189854 NM_032578.4(MYPN):c.2756G>A (p.Arg919His) variant DOID:0110933 nemaline myopathy 11 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 11, autosomal recessive PMID:23861362|PMID:25741868|PMID:28492532 10046395 CV189859 NM_032578.4(MYPN):c.3440T>A (p.Ile1147Asn) variant DOID:0110445 dilated cardiomyopathy 1KK IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1KK PMID:23861362|PMID:25741868|PMID:28492532 10046396 CV189860 NM_032578.4(MYPN):c.3833G>A (p.Arg1278Gln) variant DOID:0110445 dilated cardiomyopathy 1KK IAGP D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1KK PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 10046396 CV189860 NM_032578.4(MYPN):c.3833G>A (p.Arg1278Gln) variant DOID:0110933 nemaline myopathy 11 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 11, autosomal recessive PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 10046397 CV189862 NM_032578.4(MYPN):c.3934C>T (p.Arg1312Trp) variant DOID:0110445 dilated cardiomyopathy 1KK IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1KK PMID:23861362|PMID:25741868|PMID:28492532|PMID:30847666 10046397 CV189862 NM_032578.4(MYPN):c.3934C>T (p.Arg1312Trp) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532|PMID:30847666 10046398 CV189906 NM_001005242.3(PKP2):c.2499C>A (p.His833Gln) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:20716751|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 10046398 CV189906 NM_001005242.3(PKP2):c.2499C>A (p.His833Gln) variant DOID:0110077 arrhythmogenic right ventricular dysplasia 9 IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 PMID:20716751|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 10046399 CV189907 NM_001005242.3(PKP2):c.2360A>G (p.Tyr787Cys) variant DOID:0110077 arrhythmogenic right ventricular dysplasia 9 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 PMID:23861362|PMID:28492532 10046400 CV189908 NM_001005242.3(PKP2):c.2332A>T (p.Ile778Phe) variant DOID:0050431 arrhythmogenic right ventricular cardiomyopathy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy PMID:23861362|PMID:25741868 10046400 CV189908 NM_001005242.3(PKP2):c.2332A>T (p.Ile778Phe) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868 10046401 CV189909 NM_001005242.3(PKP2):c.2171A>C (p.Lys724Thr) variant DOID:0050431 arrhythmogenic right ventricular cardiomyopathy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046401 CV189909 NM_001005242.3(PKP2):c.2171A>C (p.Lys724Thr) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046401 CV189909 NM_001005242.3(PKP2):c.2171A>C (p.Lys724Thr) variant DOID:0110077 arrhythmogenic right ventricular dysplasia 9 IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 PMID:23861362|PMID:25741868|PMID:28492532 10046402 CV189911 NM_001005242.3(PKP2):c.1379-2066C>T variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:27122407|PMID:28492532 10046402 CV189911 NM_001005242.3(PKP2):c.1379-2066C>T variant DOID:0110077 arrhythmogenic right ventricular dysplasia 9 IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 PMID:23861362|PMID:25741868|PMID:27122407|PMID:28492532 10046403 CV189912 NM_001005242.3(PKP2):c.1238G>A (p.Arg413Gln) variant DOID:0050431 arrhythmogenic right ventricular cardiomyopathy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046403 CV189912 NM_001005242.3(PKP2):c.1238G>A (p.Arg413Gln) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046403 CV189912 NM_001005242.3(PKP2):c.1238G>A (p.Arg413Gln) variant DOID:0110077 arrhythmogenic right ventricular dysplasia 9 IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 PMID:23861362|PMID:25741868|PMID:28492532 10046406 CV189387 NM_000447.3(PSEN2):c.166G>A (p.Gly56Ser) variant DOID:0110040 Alzheimer's disease 4 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Alzheimer disease familial type 4 PMID:23861362|PMID:26467025|PMID:28492532|PMID:29692703|PMID:35328387 10046407 CV189388 NM_000447.3(PSEN2):c.205C>G (p.Pro69Ala) variant DOID:0110040 Alzheimer's disease 4 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Alzheimer disease 4 PMID:23861362|PMID:25741868|PMID:28492532 10046409 CV189392 NM_000447.3(PSEN2):c.1139C>A (p.Thr380Lys) variant DOID:0110040 Alzheimer's disease 4 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Alzheimer disease, type 4 PMID:23861362|PMID:28492532 10046410 CV189785 NM_000337.6(SGCD):c.-43-1G>A variant DOID:0110280 autosomal recessive limb-girdle muscular dystrophy type 2F IAGP D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2F PMID:23861362|PMID:25741868 10046410 CV189785 NM_000337.6(SGCD):c.-43-1G>A variant DOID:0110436 dilated cardiomyopathy 1L IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1L PMID:23861362|PMID:25741868 10046411 CV189965 NM_003673.4(TCAP):c.313G>C (p.Glu105Gln) variant DOID:0050451 Brugada syndrome IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:23861362|PMID:24033266|PMID:24037902|PMID:25741868|PMID:26332198|PMID:26467025|PMID:28492532|PMID:30871747|PMID:31303467 10046411 CV189965 NM_003673.4(TCAP):c.313G>C (p.Glu105Gln) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:24033266|PMID:24037902|PMID:25741868|PMID:26332198|PMID:26467025|PMID:28492532|PMID:30871747|PMID:31303467 10046411 CV189965 NM_003673.4(TCAP):c.313G>C (p.Glu105Gln) variant DOID:0080326 familial hypertrophic cardiomyopathy IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:23861362|PMID:24033266|PMID:24037902|PMID:25741868|PMID:26332198|PMID:26467025|PMID:28492532|PMID:30871747|PMID:31303467 10046411 CV189965 NM_003673.4(TCAP):c.313G>C (p.Glu105Gln) variant DOID:0110281 autosomal recessive limb-girdle muscular dystrophy type 2G IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2G PMID:23861362|PMID:24033266|PMID:24037902|PMID:25741868|PMID:26332198|PMID:26467025|PMID:28492532|PMID:30871747|PMID:31303467 10046411 CV189965 NM_003673.4(TCAP):c.313G>C (p.Glu105Gln) variant DOID:0110307 hypertrophic cardiomyopathy 1 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:23861362|PMID:24033266|PMID:24037902|PMID:25741868|PMID:26332198|PMID:26467025|PMID:28492532|PMID:30871747|PMID:31303467 10046411 CV189965 NM_003673.4(TCAP):c.313G>C (p.Glu105Gln) variant DOID:0110328 hypertrophic cardiomyopathy 25 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:23861362|PMID:24033266|PMID:24037902|PMID:25741868|PMID:26332198|PMID:26467025|PMID:28492532|PMID:30871747|PMID:31303467 10046411 CV189965 NM_003673.4(TCAP):c.313G>C (p.Glu105Gln) variant DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:23861362|PMID:24033266|PMID:24037902|PMID:25741868|PMID:26332198|PMID:26467025|PMID:28492532|PMID:30871747|PMID:31303467 10046412 CV189960 NM_003239.5(TGFB3):c.559G>A (p.Gly187Ser) variant DOID:0070236 Loeys-Dietz syndrome 5 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rienhoff syndrome PMID:23861362|PMID:25741868|PMID:28492532|PMID:29907982 10046412 CV189960 NM_003239.5(TGFB3):c.559G>A (p.Gly187Ser) variant DOID:0110070 arrhythmogenic right ventricular dysplasia 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 PMID:23861362|PMID:25741868|PMID:28492532|PMID:29907982 10046412 CV189960 NM_003239.5(TGFB3):c.559G>A (p.Gly187Ser) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:23861362|PMID:25741868|PMID:28492532|PMID:29907982 10046413 CV189961 NM_003239.5(TGFB3):c.487C>T (p.Arg163Trp) variant DOID:0070236 Loeys-Dietz syndrome 5 IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Rienhoff syndrome PMID:23861362|PMID:25741868|PMID:28492532|PMID:30675029 10046413 CV189961 NM_003239.5(TGFB3):c.487C>T (p.Arg163Trp) variant DOID:0110070 arrhythmogenic right ventricular dysplasia 1 IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 PMID:23861362|PMID:25741868|PMID:28492532|PMID:30675029 10046413 CV189961 NM_003239.5(TGFB3):c.487C>T (p.Arg163Trp) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:23861362|PMID:25741868|PMID:28492532|PMID:30675029 10046414 CV189774 NM_024334.3(TMEM43):c.121A>G (p.Met41Val) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:20435227|PMID:23861362|PMID:25343256|PMID:25741868|PMID:28492532 10046414 CV189774 NM_024334.3(TMEM43):c.121A>G (p.Met41Val) variant DOID:0070252 autosomal dominant Emery-Dreifuss muscular dystrophy 7 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 7, AD PMID:20435227|PMID:23861362|PMID:25343256|PMID:25741868|PMID:28492532 10046414 CV189774 NM_024334.3(TMEM43):c.121A>G (p.Met41Val) variant DOID:0110074 arrhythmogenic right ventricular dysplasia 5 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 PMID:20435227|PMID:23861362|PMID:25343256|PMID:25741868|PMID:28492532 10046414 CV189774 NM_024334.3(TMEM43):c.121A>G (p.Met41Val) variant DOID:0112373 autosomal dominant auditory neuropathy 3 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Auditory neuropathy, autosomal dominant 3 PMID:20435227|PMID:23861362|PMID:25343256|PMID:25741868|PMID:28492532 10046415 CV189775 NM_024334.3(TMEM43):c.164G>A (p.Gly55Asp) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:23861362|PMID:25741868|PMID:28492532|PMID:31376648 10046415 CV189775 NM_024334.3(TMEM43):c.164G>A (p.Gly55Asp) variant DOID:0110074 arrhythmogenic right ventricular dysplasia 5 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 5 PMID:23861362|PMID:25741868|PMID:28492532|PMID:31376648 10046416 CV189776 NM_024334.3(TMEM43):c.206C>T (p.Ser69Leu) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046416 CV189776 NM_024334.3(TMEM43):c.206C>T (p.Ser69Leu) variant DOID:0110074 arrhythmogenic right ventricular dysplasia 5 IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 5 PMID:23861362|PMID:25741868|PMID:28492532 10046418 CV189778 NM_024334.3(TMEM43):c.296A>G (p.Lys99Arg) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:23861362|PMID:25741868|PMID:28492532 10046418 CV189778 NM_024334.3(TMEM43):c.296A>G (p.Lys99Arg) variant DOID:0110074 arrhythmogenic right ventricular dysplasia 5 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 PMID:23861362|PMID:25741868|PMID:28492532 10046419 CV189780 NM_024334.3(TMEM43):c.1090G>A (p.Val364Met) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:23861362|PMID:25741868|PMID:28087566|PMID:28492532 10046419 CV189780 NM_024334.3(TMEM43):c.1090G>A (p.Val364Met) variant DOID:0110074 arrhythmogenic right ventricular dysplasia 5 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 5 PMID:23861362|PMID:25741868|PMID:28087566|PMID:28492532 10046421 CV189915 NM_001032283.3(TMPO):c.358C>A (p.Leu120Ile) variant DOID:0070234 Loeys-Dietz syndrome 2 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 PMID:23861362|PMID:28492532 10046422 CV189916 NM_001032283.3(TMPO):c.382G>A (p.Gly128Arg) variant DOID:0070234 Loeys-Dietz syndrome 2 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 PMID:23861362|PMID:28492532 10046423 CV189917 NM_001032283.3(TMPO):c.557A>G (p.Asn186Ser) variant DOID:0070234 Loeys-Dietz syndrome 2 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 PMID:23861362|PMID:28492532 10046424 CV189918 NM_001032283.3(TMPO):c.565+1305T>G variant DOID:0070234 Loeys-Dietz syndrome 2 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 PMID:23861362|PMID:28492532 10046425 CV189919 NM_001032283.3(TMPO):c.565+1531C>T variant DOID:0070234 Loeys-Dietz syndrome 2 IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 PMID:23861362|PMID:28492532 10046426 CV189920 NM_001032283.3(TMPO):c.565+1675A>G variant DOID:0070234 Loeys-Dietz syndrome 2 IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 PMID:23861362|PMID:28492532 10046427 CV189923 NM_001032283.3(TMPO):c.565+1824C>G variant DOID:0070234 Loeys-Dietz syndrome 2 IAGP D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 PMID:23861362|PMID:28492532 10046433 CV189384 NM_001276345.2(TNNT2):c.752A>G (p.Tyr251Cys) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:20800588|PMID:23861362|PMID:25741868|PMID:28492532|PMID:32880476 10046433 CV189384 NM_001276345.2(TNNT2):c.752A>G (p.Tyr251Cys) variant DOID:0110308 hypertrophic cardiomyopathy 2 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 2 PMID:20800588|PMID:23861362|PMID:25741868|PMID:28492532|PMID:32880476 10046433 CV189384 NM_001276345.2(TNNT2):c.752A>G (p.Tyr251Cys) variant DOID:0110426 dilated cardiomyopathy 1D IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1D PMID:20800588|PMID:23861362|PMID:25741868|PMID:28492532|PMID:32880476 10046433 CV189384 NM_001276345.2(TNNT2):c.752A>G (p.Tyr251Cys) variant DOID:0111427 familial restrictive cardiomyopathy 3 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, familial restrictive, 3 PMID:20800588|PMID:23861362|PMID:25741868|PMID:28492532|PMID:32880476 10046434 CV189963 NM_001018005.2(TPM1):c.381G>A (p.Met127Ile) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:28492532 10046435 CV189964 NM_001018005.2(TPM1):c.563+266C>T variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868 10046435 CV189964 NM_001018005.2(TPM1):c.563+266C>T variant DOID:0110457 dilated cardiomyopathy 1Y IAGP D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: TPM1-related condition PMID:23861362|PMID:25741868 10046436 CV189405 NM_001267550.2(TTN):c.107230A>G (p.Ile35744Val) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:23861362|PMID:25741868|PMID:26467025|PMID:28492532 10046436 CV189405 NM_001267550.2(TTN):c.107230A>G (p.Ile35744Val) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868|PMID:26467025|PMID:28492532 10046437 CV189407 NM_001267550.2(TTN):c.107089G>C (p.Glu35697Gln) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early-onset myopathy with fatal cardiomyopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10046437 CV189407 NM_001267550.2(TTN):c.107089G>C (p.Glu35697Gln) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10046437 CV189407 NM_001267550.2(TTN):c.107089G>C (p.Glu35697Gln) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10046437 CV189407 NM_001267550.2(TTN):c.107089G>C (p.Glu35697Gln) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10046437 CV189407 NM_001267550.2(TTN):c.107089G>C (p.Glu35697Gln) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10046438 CV189411 NM_001267550.2(TTN):c.106343G>A (p.Arg35448Gln) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Early-onset myopathy with fatal cardiomyopathy PMID:23861362|PMID:23975875|PMID:25589632|PMID:25741868|PMID:28492532 10046438 CV189411 NM_001267550.2(TTN):c.106343G>A (p.Arg35448Gln) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:23861362|PMID:23975875|PMID:25589632|PMID:25741868|PMID:28492532 10046438 CV189411 NM_001267550.2(TTN):c.106343G>A (p.Arg35448Gln) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:23975875|PMID:25589632|PMID:25741868|PMID:28492532 10046438 CV189411 NM_001267550.2(TTN):c.106343G>A (p.Arg35448Gln) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:23861362|PMID:23975875|PMID:25589632|PMID:25741868|PMID:28492532 10046438 CV189411 NM_001267550.2(TTN):c.106343G>A (p.Arg35448Gln) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:23861362|PMID:23975875|PMID:25589632|PMID:25741868|PMID:28492532 10046440 CV189415 NM_001267550.2(TTN):c.105490C>T (p.Arg35164Cys) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early-onset myopathy with fatal cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046440 CV189415 NM_001267550.2(TTN):c.105490C>T (p.Arg35164Cys) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:23861362|PMID:25741868|PMID:28492532 10046440 CV189415 NM_001267550.2(TTN):c.105490C>T (p.Arg35164Cys) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868|PMID:28492532 10046440 CV189415 NM_001267550.2(TTN):c.105490C>T (p.Arg35164Cys) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:23861362|PMID:25741868|PMID:28492532 10046440 CV189415 NM_001267550.2(TTN):c.105490C>T (p.Arg35164Cys) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:23861362|PMID:25741868|PMID:28492532 10046441 CV189416 NM_001267550.2(TTN):c.105128G>A (p.Arg35043His) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:23861362|PMID:25741868|PMID:28045975|PMID:28492532|PMID:37091313 10046441 CV189416 NM_001267550.2(TTN):c.105128G>A (p.Arg35043His) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868|PMID:28045975|PMID:28492532|PMID:37091313 10046442 CV189418 NM_001267550.2(TTN):c.104225G>A (p.Ser34742Asn) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:23975875|PMID:25589632|PMID:28492532 10046445 CV189422 NM_001267550.2(TTN):c.103636C>T (p.Arg34546Cys) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23396983|PMID:23861362|PMID:25741868|PMID:28492532 10046446 CV189423 NM_001267550.2(TTN):c.103412G>A (p.Arg34471Gln) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Salih Myopathy PMID:23861362|PMID:26467025|PMID:28492532 10046446 CV189423 NM_001267550.2(TTN):c.103412G>A (p.Arg34471Gln) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10 PMID:23861362|PMID:26467025|PMID:28492532 10046446 CV189423 NM_001267550.2(TTN):c.103412G>A (p.Arg34471Gln) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:26467025|PMID:28492532 10046446 CV189423 NM_001267550.2(TTN):c.103412G>A (p.Arg34471Gln) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:23861362|PMID:26467025|PMID:28492532 10046446 CV189423 NM_001267550.2(TTN):c.103412G>A (p.Arg34471Gln) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant PMID:23861362|PMID:26467025|PMID:28492532 10046447 CV189425 NM_001267550.2(TTN):c.102827G>A (p.Arg34276Gln) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:23975875|PMID:25589632|PMID:25741868|PMID:28492532 10046448 CV189428 NM_001267550.2(TTN):c.102275G>A (p.Arg34092His) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:23861362|PMID:23975875|PMID:25589632|PMID:25741868|PMID:28492532|PMID:28790152|PMID:29961767 10046448 CV189428 NM_001267550.2(TTN):c.102275G>A (p.Arg34092His) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:23975875|PMID:25589632|PMID:25741868|PMID:28492532|PMID:28790152|PMID:29961767 10046449 CV189430 NM_001267550.2(TTN):c.101708G>A (p.Arg33903His) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:23861362|PMID:25741868|PMID:28492532 10046449 CV189430 NM_001267550.2(TTN):c.101708G>A (p.Arg33903His) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868|PMID:28492532 10046449 CV189430 NM_001267550.2(TTN):c.101708G>A (p.Arg33903His) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046450 CV189432 NM_001267550.2(TTN):c.101236C>T (p.Arg33746Cys) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:23861362|PMID:23975875|PMID:25589632|PMID:28492532 10046450 CV189432 NM_001267550.2(TTN):c.101236C>T (p.Arg33746Cys) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:23975875|PMID:25589632|PMID:28492532 10046452 CV189435 NM_001267550.2(TTN):c.100982G>A (p.Arg33661Lys) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2J PMID:23861362|PMID:25741868|PMID:28492532 10046452 CV189435 NM_001267550.2(TTN):c.100982G>A (p.Arg33661Lys) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868|PMID:28492532 10046452 CV189435 NM_001267550.2(TTN):c.100982G>A (p.Arg33661Lys) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:23861362|PMID:25741868|PMID:28492532 10046453 CV189436 NM_001267550.2(TTN):c.100883C>T (p.Thr33628Ile) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:23975875|PMID:25589632|PMID:28492532 10046454 CV189437 NM_001267550.2(TTN):c.100226G>A (p.Cys33409Tyr) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Early-onset myopathy with fatal cardiomyopathy PMID:23861362|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32880476 10046454 CV189437 NM_001267550.2(TTN):c.100226G>A (p.Cys33409Tyr) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10 PMID:23861362|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32880476 10046454 CV189437 NM_001267550.2(TTN):c.100226G>A (p.Cys33409Tyr) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32880476 10046454 CV189437 NM_001267550.2(TTN):c.100226G>A (p.Cys33409Tyr) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:23861362|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32880476 10046454 CV189437 NM_001267550.2(TTN):c.100226G>A (p.Cys33409Tyr) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:23861362|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32880476 10046458 CV189444 NM_001267550.2(TTN):c.98893G>C (p.Asp32965His) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:23861362|PMID:25741868|PMID:28492532 10046458 CV189444 NM_001267550.2(TTN):c.98893G>C (p.Asp32965His) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:23861362|PMID:25741868|PMID:28492532 10046458 CV189444 NM_001267550.2(TTN):c.98893G>C (p.Asp32965His) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868|PMID:28492532 10046459 CV189445 NM_001267550.2(TTN):c.98759G>A (p.Arg32920Gln) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Early-onset myopathy with fatal cardiomyopathy PMID:23861362|PMID:25589632|PMID:25741868|PMID:28492532 10046459 CV189445 NM_001267550.2(TTN):c.98759G>A (p.Arg32920Gln) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:23861362|PMID:25589632|PMID:25741868|PMID:28492532 10046459 CV189445 NM_001267550.2(TTN):c.98759G>A (p.Arg32920Gln) variant DOID:0110315 hypertrophic cardiomyopathy 9 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 9 PMID:23861362|PMID:25589632|PMID:25741868|PMID:28492532 10046459 CV189445 NM_001267550.2(TTN):c.98759G>A (p.Arg32920Gln) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25589632|PMID:25741868|PMID:28492532 10046459 CV189445 NM_001267550.2(TTN):c.98759G>A (p.Arg32920Gln) variant DOID:0110454 dilated cardiomyopathy 1S IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1S PMID:23861362|PMID:25589632|PMID:25741868|PMID:28492532 10046459 CV189445 NM_001267550.2(TTN):c.98759G>A (p.Arg32920Gln) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Udd Distal Myopathy PMID:23861362|PMID:25589632|PMID:25741868|PMID:28492532 10046459 CV189445 NM_001267550.2(TTN):c.98759G>A (p.Arg32920Gln) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant PMID:23861362|PMID:25589632|PMID:25741868|PMID:28492532 10046460 CV189446 NM_001267550.2(TTN):c.98641C>T (p.Pro32881Ser) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early-onset myopathy with fatal cardiomyopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10046460 CV189446 NM_001267550.2(TTN):c.98641C>T (p.Pro32881Ser) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10046460 CV189446 NM_001267550.2(TTN):c.98641C>T (p.Pro32881Ser) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10046460 CV189446 NM_001267550.2(TTN):c.98641C>T (p.Pro32881Ser) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10046460 CV189446 NM_001267550.2(TTN):c.98641C>T (p.Pro32881Ser) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10046461 CV189447 NM_001267550.2(TTN):c.98524G>A (p.Ala32842Thr) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868|PMID:28492532 10046464 CV189454 NM_001267550.2(TTN):c.97331G>C (p.Arg32444Pro) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early-onset myopathy with fatal cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046464 CV189454 NM_001267550.2(TTN):c.97331G>C (p.Arg32444Pro) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:23861362|PMID:25741868|PMID:28492532 10046464 CV189454 NM_001267550.2(TTN):c.97331G>C (p.Arg32444Pro) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868|PMID:28492532 10046464 CV189454 NM_001267550.2(TTN):c.97331G>C (p.Arg32444Pro) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:23861362|PMID:25741868|PMID:28492532 10046464 CV189454 NM_001267550.2(TTN):c.97331G>C (p.Arg32444Pro) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:23861362|PMID:25741868|PMID:28492532 10046466 CV189459 NM_001267550.2(TTN):c.95320A>G (p.Lys31774Glu) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early-onset myopathy with fatal cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046466 CV189459 NM_001267550.2(TTN):c.95320A>G (p.Lys31774Glu) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:23861362|PMID:25741868|PMID:28492532 10046466 CV189459 NM_001267550.2(TTN):c.95320A>G (p.Lys31774Glu) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868|PMID:28492532 10046466 CV189459 NM_001267550.2(TTN):c.95320A>G (p.Lys31774Glu) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:23861362|PMID:25741868|PMID:28492532 10046466 CV189459 NM_001267550.2(TTN):c.95320A>G (p.Lys31774Glu) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:23861362|PMID:25741868|PMID:28492532 10046470 CV189464 NM_001267550.2(TTN):c.94016C>T (p.Thr31339Ile) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Myopathy, early-onset, with fatal cardiomyopathy PMID:23861362|PMID:28492532 10046470 CV189464 NM_001267550.2(TTN):c.94016C>T (p.Thr31339Ile) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10 PMID:23861362|PMID:28492532 10046470 CV189464 NM_001267550.2(TTN):c.94016C>T (p.Thr31339Ile) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:28492532 10046470 CV189464 NM_001267550.2(TTN):c.94016C>T (p.Thr31339Ile) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:23861362|PMID:28492532 10046470 CV189464 NM_001267550.2(TTN):c.94016C>T (p.Thr31339Ile) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:23861362|PMID:28492532 10046471 CV189466 NM_001267550.2(TTN):c.93167G>A (p.Arg31056Gln) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Early-onset myopathy with fatal cardiomyopathy PMID:23861362|PMID:25741868 10046471 CV189466 NM_001267550.2(TTN):c.93167G>A (p.Arg31056Gln) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10 PMID:23861362|PMID:25741868 10046471 CV189466 NM_001267550.2(TTN):c.93167G>A (p.Arg31056Gln) variant DOID:0110315 hypertrophic cardiomyopathy 9 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 9 PMID:23861362|PMID:25741868 10046471 CV189466 NM_001267550.2(TTN):c.93167G>A (p.Arg31056Gln) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868 10046471 CV189466 NM_001267550.2(TTN):c.93167G>A (p.Arg31056Gln) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:23861362|PMID:25741868 10046471 CV189466 NM_001267550.2(TTN):c.93167G>A (p.Arg31056Gln) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:23861362|PMID:25741868 10046473 CV189469 NM_001267550.2(TTN):c.92009T>C (p.Ile30670Thr) variant DOID:0050638 hereditary systemic amyloidosis 1 IAGP D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Familial Transthyretin Amyloidosis PMID:23861362|PMID:25741868|PMID:28492532 10046473 CV189469 NM_001267550.2(TTN):c.92009T>C (p.Ile30670Thr) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046473 CV189469 NM_001267550.2(TTN):c.92009T>C (p.Ile30670Thr) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Myopathy, early-onset, with fatal cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046473 CV189469 NM_001267550.2(TTN):c.92009T>C (p.Ile30670Thr) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2J PMID:23861362|PMID:25741868|PMID:28492532 10046473 CV189469 NM_001267550.2(TTN):c.92009T>C (p.Ile30670Thr) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868|PMID:28492532 10046473 CV189469 NM_001267550.2(TTN):c.92009T>C (p.Ile30670Thr) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:23861362|PMID:25741868|PMID:28492532 10046473 CV189469 NM_001267550.2(TTN):c.92009T>C (p.Ile30670Thr) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Hereditary myopathy with early respiratory failure PMID:23861362|PMID:25741868|PMID:28492532 10046473 CV189469 NM_001267550.2(TTN):c.92009T>C (p.Ile30670Thr) variant DOID:9000299 cardiac amyloidosis IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: AMYLOID CARDIOMYOPATHY PMID:23861362|PMID:25741868|PMID:28492532 10046473 CV189469 NM_001267550.2(TTN):c.92009T>C (p.Ile30670Thr) variant DOID:9001512 Familial Amyloid Polyneuropathies IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial amyloid polyneuropathy PMID:23861362|PMID:25741868|PMID:28492532 10046475 CV189476 NM_001267550.2(TTN):c.89708C>G (p.Thr29903Ser) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Myopathy, early-onset, with fatal cardiomyopathy PMID:23861362|PMID:25741868|PMID:26467025|PMID:28492532 10046475 CV189476 NM_001267550.2(TTN):c.89708C>G (p.Thr29903Ser) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2J PMID:23861362|PMID:25741868|PMID:26467025|PMID:28492532 10046475 CV189476 NM_001267550.2(TTN):c.89708C>G (p.Thr29903Ser) variant DOID:0110315 hypertrophic cardiomyopathy 9 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 9 PMID:23861362|PMID:25741868|PMID:26467025|PMID:28492532 10046475 CV189476 NM_001267550.2(TTN):c.89708C>G (p.Thr29903Ser) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868|PMID:26467025|PMID:28492532 10046475 CV189476 NM_001267550.2(TTN):c.89708C>G (p.Thr29903Ser) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:23861362|PMID:25741868|PMID:26467025|PMID:28492532 10046475 CV189476 NM_001267550.2(TTN):c.89708C>G (p.Thr29903Ser) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:23861362|PMID:25741868|PMID:26467025|PMID:28492532 10046475 CV189476 NM_001267550.2(TTN):c.89708C>G (p.Thr29903Ser) variant DOID:9000184 Ventricular Fibrillation IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation PMID:23861362|PMID:25741868|PMID:26467025|PMID:28492532 10046476 CV189477 NM_001267550.2(TTN):c.89479C>A (p.Pro29827Thr) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:23861362|PMID:23975875|PMID:25589632|PMID:28492532 10046476 CV189477 NM_001267550.2(TTN):c.89479C>A (p.Pro29827Thr) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:23975875|PMID:25589632|PMID:28492532 10046477 CV189478 NM_001267550.2(TTN):c.89314G>A (p.Glu29772Lys) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:23861362|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28750076|PMID:28771489|PMID:29511324|PMID:29892087|PMID:30021846 10046477 CV189478 NM_001267550.2(TTN):c.89314G>A (p.Glu29772Lys) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Early-onset myopathy with fatal cardiomyopathy PMID:23861362|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28750076|PMID:28771489|PMID:29511324|PMID:29892087|PMID:30021846 10046477 CV189478 NM_001267550.2(TTN):c.89314G>A (p.Glu29772Lys) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10 PMID:23861362|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28750076|PMID:28771489|PMID:29511324|PMID:29892087|PMID:30021846 10046477 CV189478 NM_001267550.2(TTN):c.89314G>A (p.Glu29772Lys) variant DOID:0110315 hypertrophic cardiomyopathy 9 IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 9 PMID:23861362|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28750076|PMID:28771489|PMID:29511324|PMID:29892087|PMID:30021846 10046477 CV189478 NM_001267550.2(TTN):c.89314G>A (p.Glu29772Lys) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28750076|PMID:28771489|PMID:29511324|PMID:29892087|PMID:30021846 10046477 CV189478 NM_001267550.2(TTN):c.89314G>A (p.Glu29772Lys) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: UDD Myopathy PMID:23861362|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28750076|PMID:28771489|PMID:29511324|PMID:29892087|PMID:30021846 10046477 CV189478 NM_001267550.2(TTN):c.89314G>A (p.Glu29772Lys) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT PMID:23861362|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28750076|PMID:28771489|PMID:29511324|PMID:29892087|PMID:30021846 10046479 CV189483 NM_001267550.2(TTN):c.88285A>G (p.Ile29429Val) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early-onset myopathy with fatal cardiomyopathy PMID:23861362|PMID:25741868|PMID:26516846|PMID:28492532|PMID:30531895 10046479 CV189483 NM_001267550.2(TTN):c.88285A>G (p.Ile29429Val) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:23861362|PMID:25741868|PMID:26516846|PMID:28492532|PMID:30531895 10046479 CV189483 NM_001267550.2(TTN):c.88285A>G (p.Ile29429Val) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868|PMID:26516846|PMID:28492532|PMID:30531895 10046479 CV189483 NM_001267550.2(TTN):c.88285A>G (p.Ile29429Val) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:23861362|PMID:25741868|PMID:26516846|PMID:28492532|PMID:30531895 10046479 CV189483 NM_001267550.2(TTN):c.88285A>G (p.Ile29429Val) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:23861362|PMID:25741868|PMID:26516846|PMID:28492532|PMID:30531895 10046480 CV189485 NM_001267550.2(TTN):c.87496G>A (p.Gly29166Ser) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868 10046481 CV189486 NM_001267550.2(TTN):c.86935G>A (p.Val28979Ile) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early-onset myopathy with fatal cardiomyopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 10046481 CV189486 NM_001267550.2(TTN):c.86935G>A (p.Val28979Ile) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 10046481 CV189486 NM_001267550.2(TTN):c.86935G>A (p.Val28979Ile) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 10046481 CV189486 NM_001267550.2(TTN):c.86935G>A (p.Val28979Ile) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 10046481 CV189486 NM_001267550.2(TTN):c.86935G>A (p.Val28979Ile) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 10046482 CV189488 NM_001267550.2(TTN):c.86702G>A (p.Arg28901His) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868 10046483 CV189489 NM_001267550.2(TTN):c.86654G>A (p.Arg28885His) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Early-onset myopathy with fatal cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046483 CV189489 NM_001267550.2(TTN):c.86654G>A (p.Arg28885His) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:23861362|PMID:25741868|PMID:28492532 10046483 CV189489 NM_001267550.2(TTN):c.86654G>A (p.Arg28885His) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868|PMID:28492532 10046483 CV189489 NM_001267550.2(TTN):c.86654G>A (p.Arg28885His) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:23861362|PMID:25741868|PMID:28492532 10046483 CV189489 NM_001267550.2(TTN):c.86654G>A (p.Arg28885His) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:23861362|PMID:25741868|PMID:28492532 10046484 CV189492 NM_001267550.2(TTN):c.85624A>G (p.Ile28542Val) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868|PMID:28492532 10046485 CV189493 NM_001267550.2(TTN):c.84871C>T (p.Arg28291Cys) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:23396983|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28045975|PMID:28492532 10046485 CV189493 NM_001267550.2(TTN):c.84871C>T (p.Arg28291Cys) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Salih Myopathy PMID:23396983|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28045975|PMID:28492532 10046485 CV189493 NM_001267550.2(TTN):c.84871C>T (p.Arg28291Cys) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:23396983|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28045975|PMID:28492532 10046485 CV189493 NM_001267550.2(TTN):c.84871C>T (p.Arg28291Cys) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23396983|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28045975|PMID:28492532 10046485 CV189493 NM_001267550.2(TTN):c.84871C>T (p.Arg28291Cys) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:23396983|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28045975|PMID:28492532 10046485 CV189493 NM_001267550.2(TTN):c.84871C>T (p.Arg28291Cys) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Hereditary myopathy with early respiratory failure PMID:23396983|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28045975|PMID:28492532 10046486 CV189494 NM_001267550.2(TTN):c.84187C>T (p.Arg28063Cys) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:23861362|PMID:28492532 10046486 CV189494 NM_001267550.2(TTN):c.84187C>T (p.Arg28063Cys) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:28492532 10046487 CV189497 NM_001267550.2(TTN):c.83228G>A (p.Arg27743Gln) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:28492532 10046488 CV189498 NM_001267550.2(TTN):c.83063G>A (p.Arg27688His) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23396983|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26516846|PMID:28492532 10046488 CV189498 NM_001267550.2(TTN):c.83063G>A (p.Arg27688His) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Myopathy, early-onset, with fatal cardiomyopathy PMID:23396983|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26516846|PMID:28492532 10046488 CV189498 NM_001267550.2(TTN):c.83063G>A (p.Arg27688His) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2J PMID:23396983|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26516846|PMID:28492532 10046488 CV189498 NM_001267550.2(TTN):c.83063G>A (p.Arg27688His) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23396983|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26516846|PMID:28492532 10046488 CV189498 NM_001267550.2(TTN):c.83063G>A (p.Arg27688His) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:23396983|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26516846|PMID:28492532 10046488 CV189498 NM_001267550.2(TTN):c.83063G>A (p.Arg27688His) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:23396983|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26516846|PMID:28492532 10046489 CV189499 NM_001267550.2(TTN):c.82688G>A (p.Arg27563His) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Myopathy, early-onset, with fatal cardiomyopathy PMID:23861362|PMID:28492532 10046489 CV189499 NM_001267550.2(TTN):c.82688G>A (p.Arg27563His) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2J PMID:23861362|PMID:28492532 10046489 CV189499 NM_001267550.2(TTN):c.82688G>A (p.Arg27563His) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:28492532 10046489 CV189499 NM_001267550.2(TTN):c.82688G>A (p.Arg27563His) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:23861362|PMID:28492532 10046489 CV189499 NM_001267550.2(TTN):c.82688G>A (p.Arg27563His) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20190702 ClinVar ClinVar Annotator: match by term: MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT PMID:23861362|PMID:28492532 10046491 CV189502 NM_001267550.2(TTN):c.82405C>G (p.Pro27469Ala) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868 10046492 CV189503 NM_001267550.2(TTN):c.82235C>A (p.Thr27412Lys) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:23861362|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29420653 10046492 CV189503 NM_001267550.2(TTN):c.82235C>A (p.Thr27412Lys) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Early-onset myopathy with fatal cardiomyopathy PMID:23861362|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29420653 10046492 CV189503 NM_001267550.2(TTN):c.82235C>A (p.Thr27412Lys) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:23861362|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29420653 10046492 CV189503 NM_001267550.2(TTN):c.82235C>A (p.Thr27412Lys) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29420653 10046492 CV189503 NM_001267550.2(TTN):c.82235C>A (p.Thr27412Lys) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:23861362|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29420653 10046492 CV189503 NM_001267550.2(TTN):c.82235C>A (p.Thr27412Lys) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:23861362|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29420653 10046496 CV189512 NM_001267550.2(TTN):c.80555G>A (p.Arg26852His) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Salih Myopathy PMID:23861362|PMID:25741868|PMID:26467025|PMID:28492532 10046496 CV189512 NM_001267550.2(TTN):c.80555G>A (p.Arg26852His) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:23861362|PMID:25741868|PMID:26467025|PMID:28492532 10046496 CV189512 NM_001267550.2(TTN):c.80555G>A (p.Arg26852His) variant DOID:0110315 hypertrophic cardiomyopathy 9 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 9 PMID:23861362|PMID:25741868|PMID:26467025|PMID:28492532 10046496 CV189512 NM_001267550.2(TTN):c.80555G>A (p.Arg26852His) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868|PMID:26467025|PMID:28492532 10046496 CV189512 NM_001267550.2(TTN):c.80555G>A (p.Arg26852His) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Udd Distal Myopathy PMID:23861362|PMID:25741868|PMID:26467025|PMID:28492532 10046496 CV189512 NM_001267550.2(TTN):c.80555G>A (p.Arg26852His) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant PMID:23861362|PMID:25741868|PMID:26467025|PMID:28492532 10046497 CV189518 NM_001267550.2(TTN):c.79213G>A (p.Val26405Ile) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:23861362|PMID:25741868|PMID:28492532 10046497 CV189518 NM_001267550.2(TTN):c.79213G>A (p.Val26405Ile) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868|PMID:28492532 10046499 CV189527 NM_001267550.2(TTN):c.75982C>A (p.Pro25328Thr) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868|PMID:28492532 10046502 CV189535 NM_001267550.2(TTN):c.72803G>A (p.Arg24268His) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Early-onset myopathy with fatal cardiomyopathy PMID:23861362|PMID:28492532|PMID:33552729 10046502 CV189535 NM_001267550.2(TTN):c.72803G>A (p.Arg24268His) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:23861362|PMID:28492532|PMID:33552729 10046502 CV189535 NM_001267550.2(TTN):c.72803G>A (p.Arg24268His) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:28492532|PMID:33552729 10046502 CV189535 NM_001267550.2(TTN):c.72803G>A (p.Arg24268His) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:23861362|PMID:28492532|PMID:33552729 10046502 CV189535 NM_001267550.2(TTN):c.72803G>A (p.Arg24268His) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:23861362|PMID:28492532|PMID:33552729 10046503 CV189539 NM_001267550.2(TTN):c.72146T>C (p.Leu24049Pro) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:23396983|PMID:23861362|PMID:25741868|PMID:26516846|PMID:28492532|PMID:37091313 10046503 CV189539 NM_001267550.2(TTN):c.72146T>C (p.Leu24049Pro) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Salih Myopathy PMID:23396983|PMID:23861362|PMID:25741868|PMID:26516846|PMID:28492532|PMID:37091313 10046503 CV189539 NM_001267550.2(TTN):c.72146T>C (p.Leu24049Pro) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:23396983|PMID:23861362|PMID:25741868|PMID:26516846|PMID:28492532|PMID:37091313 10046503 CV189539 NM_001267550.2(TTN):c.72146T>C (p.Leu24049Pro) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23396983|PMID:23861362|PMID:25741868|PMID:26516846|PMID:28492532|PMID:37091313 10046503 CV189539 NM_001267550.2(TTN):c.72146T>C (p.Leu24049Pro) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: UDD Myopathy PMID:23396983|PMID:23861362|PMID:25741868|PMID:26516846|PMID:28492532|PMID:37091313 10046503 CV189539 NM_001267550.2(TTN):c.72146T>C (p.Leu24049Pro) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Hereditary myopathy with early respiratory failure PMID:23396983|PMID:23861362|PMID:25741868|PMID:26516846|PMID:28492532|PMID:37091313 10046503 CV189539 NM_001267550.2(TTN):c.72146T>C (p.Leu24049Pro) variant DOID:9005141 Ventricular Tachycardia IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:23396983|PMID:23861362|PMID:25741868|PMID:26516846|PMID:28492532|PMID:37091313 10046504 CV189540 NM_001267550.2(TTN):c.71944A>G (p.Asn23982Asp) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:23861362|PMID:25741868 10046506 CV189543 NM_001267550.2(TTN):c.70172T>C (p.Ile23391Thr) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 10046507 CV189544 NM_001267550.2(TTN):c.70042G>A (p.Ala23348Thr) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:28492532|PMID:30993396|PMID:36675693 10046509 CV189548 NM_001267550.2(TTN):c.69338G>A (p.Arg23113Gln) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:24011988|PMID:24033266|PMID:25163546|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31983221 10046509 CV189548 NM_001267550.2(TTN):c.69338G>A (p.Arg23113Gln) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Salih Myopathy PMID:23861362|PMID:24011988|PMID:24033266|PMID:25163546|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31983221 10046509 CV189548 NM_001267550.2(TTN):c.69338G>A (p.Arg23113Gln) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10 PMID:23861362|PMID:24011988|PMID:24033266|PMID:25163546|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31983221 10046509 CV189548 NM_001267550.2(TTN):c.69338G>A (p.Arg23113Gln) variant DOID:0110315 hypertrophic cardiomyopathy 9 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 9 PMID:23861362|PMID:24011988|PMID:24033266|PMID:25163546|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31983221 10046509 CV189548 NM_001267550.2(TTN):c.69338G>A (p.Arg23113Gln) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:24011988|PMID:24033266|PMID:25163546|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31983221 10046509 CV189548 NM_001267550.2(TTN):c.69338G>A (p.Arg23113Gln) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Udd Distal Myopathy PMID:23861362|PMID:24011988|PMID:24033266|PMID:25163546|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31983221 10046509 CV189548 NM_001267550.2(TTN):c.69338G>A (p.Arg23113Gln) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant PMID:23861362|PMID:24011988|PMID:24033266|PMID:25163546|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31983221 10046510 CV189551 NM_001267550.2(TTN):c.68824+1G>A variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:23975875|PMID:25589632|PMID:25741868|PMID:28492532 10046510 CV189551 NM_001267550.2(TTN):c.68824+1G>A variant DOID:11836 clubfoot IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Bilateral talipes equinovarus PMID:23861362|PMID:23975875|PMID:25589632|PMID:25741868|PMID:28492532 10046511 CV189553 NM_001267550.2(TTN):c.68161G>A (p.Glu22721Lys) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Myopathy, early-onset, with fatal cardiomyopathy PMID:23861362|PMID:24033266|PMID:28492532 10046511 CV189553 NM_001267550.2(TTN):c.68161G>A (p.Glu22721Lys) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20180508 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2J PMID:23861362|PMID:24033266|PMID:28492532 10046511 CV189553 NM_001267550.2(TTN):c.68161G>A (p.Glu22721Lys) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20180508 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:24033266|PMID:28492532 10046511 CV189553 NM_001267550.2(TTN):c.68161G>A (p.Glu22721Lys) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:23861362|PMID:24033266|PMID:28492532 10046511 CV189553 NM_001267550.2(TTN):c.68161G>A (p.Glu22721Lys) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:23861362|PMID:24033266|PMID:28492532 10046512 CV189554 NM_001267550.2(TTN):c.68078C>T (p.Thr22693Met) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Salih Myopathy PMID:23861362|PMID:25741868|PMID:28492532 10046512 CV189554 NM_001267550.2(TTN):c.68078C>T (p.Thr22693Met) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:23861362|PMID:25741868|PMID:28492532 10046512 CV189554 NM_001267550.2(TTN):c.68078C>T (p.Thr22693Met) variant DOID:0110315 hypertrophic cardiomyopathy 9 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 9 PMID:23861362|PMID:25741868|PMID:28492532 10046512 CV189554 NM_001267550.2(TTN):c.68078C>T (p.Thr22693Met) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868|PMID:28492532 10046512 CV189554 NM_001267550.2(TTN):c.68078C>T (p.Thr22693Met) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Udd Distal Myopathy PMID:23861362|PMID:25741868|PMID:28492532 10046512 CV189554 NM_001267550.2(TTN):c.68078C>T (p.Thr22693Met) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant PMID:23861362|PMID:25741868|PMID:28492532 10046513 CV189556 NM_001267550.2(TTN):c.67322A>G (p.Glu22441Gly) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:23861362|PMID:25741868|PMID:28492532 10046513 CV189556 NM_001267550.2(TTN):c.67322A>G (p.Glu22441Gly) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868|PMID:28492532 10046515 CV189560 NM_001267550.2(TTN):c.66386G>A (p.Arg22129His) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046515 CV189560 NM_001267550.2(TTN):c.66386G>A (p.Arg22129His) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868|PMID:28492532 10046518 CV189566 NM_001267550.2(TTN):c.63877G>A (p.Asp21293Asn) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046518 CV189566 NM_001267550.2(TTN):c.63877G>A (p.Asp21293Asn) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Myopathy, early-onset, with fatal cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046518 CV189566 NM_001267550.2(TTN):c.63877G>A (p.Asp21293Asn) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2J PMID:23861362|PMID:25741868|PMID:28492532 10046518 CV189566 NM_001267550.2(TTN):c.63877G>A (p.Asp21293Asn) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868|PMID:28492532 10046518 CV189566 NM_001267550.2(TTN):c.63877G>A (p.Asp21293Asn) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:23861362|PMID:25741868|PMID:28492532 10046518 CV189566 NM_001267550.2(TTN):c.63877G>A (p.Asp21293Asn) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:23861362|PMID:25741868|PMID:28492532 10046520 CV189569 NM_001267550.2(TTN):c.63380G>A (p.Arg21127His) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:28492532 10046522 CV189573 NM_001267550.2(TTN):c.60932G>A (p.Arg20311Gln) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Salih Myopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 10046522 CV189573 NM_001267550.2(TTN):c.60932G>A (p.Arg20311Gln) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 10046522 CV189573 NM_001267550.2(TTN):c.60932G>A (p.Arg20311Gln) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 10046522 CV189573 NM_001267550.2(TTN):c.60932G>A (p.Arg20311Gln) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Udd Distal Myopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 10046522 CV189573 NM_001267550.2(TTN):c.60932G>A (p.Arg20311Gln) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 10046526 CV189582 NM_001267550.2(TTN):c.57442A>G (p.Met19148Val) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:23396983|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29511324|PMID:35207729 10046526 CV189582 NM_001267550.2(TTN):c.57442A>G (p.Met19148Val) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Early-onset myopathy with fatal cardiomyopathy PMID:23396983|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29511324|PMID:35207729 10046526 CV189582 NM_001267550.2(TTN):c.57442A>G (p.Met19148Val) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:23396983|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29511324|PMID:35207729 10046526 CV189582 NM_001267550.2(TTN):c.57442A>G (p.Met19148Val) variant DOID:0110315 hypertrophic cardiomyopathy 9 IAGP D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 9 PMID:23396983|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29511324|PMID:35207729 10046526 CV189582 NM_001267550.2(TTN):c.57442A>G (p.Met19148Val) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23396983|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29511324|PMID:35207729 10046526 CV189582 NM_001267550.2(TTN):c.57442A>G (p.Met19148Val) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:23396983|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29511324|PMID:35207729 10046526 CV189582 NM_001267550.2(TTN):c.57442A>G (p.Met19148Val) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:23396983|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29511324|PMID:35207729 10046528 CV189584 NM_001267550.2(TTN):c.57242T>C (p.Ile19081Thr) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:28492532 10046529 CV189585 NM_001267550.2(TTN):c.56686G>A (p.Val18896Met) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:26498160|PMID:28492532|PMID:31879508|PMID:34137518 10046529 CV189585 NM_001267550.2(TTN):c.56686G>A (p.Val18896Met) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10 PMID:23861362|PMID:25741868|PMID:26498160|PMID:28492532|PMID:31879508|PMID:34137518 10046529 CV189585 NM_001267550.2(TTN):c.56686G>A (p.Val18896Met) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868|PMID:26498160|PMID:28492532|PMID:31879508|PMID:34137518 10046529 CV189585 NM_001267550.2(TTN):c.56686G>A (p.Val18896Met) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:25741868|PMID:26498160|PMID:28492532|PMID:31879508|PMID:34137518 10046530 CV189586 NM_001267550.2(TTN):c.56255C>T (p.Pro18752Leu) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Early-onset myopathy with fatal cardiomyopathy PMID:23861362|PMID:25741868|PMID:26467025|PMID:26516846|PMID:28492532|PMID:28750076|PMID:29511324 10046530 CV189586 NM_001267550.2(TTN):c.56255C>T (p.Pro18752Leu) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:23861362|PMID:25741868|PMID:26467025|PMID:26516846|PMID:28492532|PMID:28750076|PMID:29511324 10046530 CV189586 NM_001267550.2(TTN):c.56255C>T (p.Pro18752Leu) variant DOID:0110315 hypertrophic cardiomyopathy 9 IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 9 PMID:23861362|PMID:25741868|PMID:26467025|PMID:26516846|PMID:28492532|PMID:28750076|PMID:29511324 10046530 CV189586 NM_001267550.2(TTN):c.56255C>T (p.Pro18752Leu) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868|PMID:26467025|PMID:26516846|PMID:28492532|PMID:28750076|PMID:29511324 10046530 CV189586 NM_001267550.2(TTN):c.56255C>T (p.Pro18752Leu) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: UDD Myopathy PMID:23861362|PMID:25741868|PMID:26467025|PMID:26516846|PMID:28492532|PMID:28750076|PMID:29511324 10046530 CV189586 NM_001267550.2(TTN):c.56255C>T (p.Pro18752Leu) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT PMID:23861362|PMID:25741868|PMID:26467025|PMID:26516846|PMID:28492532|PMID:28750076|PMID:29511324 10046531 CV189587 NM_001267550.2(TTN):c.55655G>A (p.Arg18552His) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10 PMID:23861362|PMID:25163546|PMID:25741868|PMID:28492532 10046531 CV189587 NM_001267550.2(TTN):c.55655G>A (p.Arg18552His) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25163546|PMID:25741868|PMID:28492532 10046532 CV189588 NM_001267550.2(TTN):c.55396G>A (p.Gly18466Arg) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early-onset myopathy with fatal cardiomyopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 10046532 CV189588 NM_001267550.2(TTN):c.55396G>A (p.Gly18466Arg) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 10046532 CV189588 NM_001267550.2(TTN):c.55396G>A (p.Gly18466Arg) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 10046532 CV189588 NM_001267550.2(TTN):c.55396G>A (p.Gly18466Arg) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 10046532 CV189588 NM_001267550.2(TTN):c.55396G>A (p.Gly18466Arg) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 10046533 CV189589 NM_001267550.2(TTN):c.55354T>C (p.Ser18452Pro) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046533 CV189589 NM_001267550.2(TTN):c.55354T>C (p.Ser18452Pro) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:23861362|PMID:25741868|PMID:28492532 10046533 CV189589 NM_001267550.2(TTN):c.55354T>C (p.Ser18452Pro) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868|PMID:28492532 10046534 CV189590 NM_001267550.2(TTN):c.54740T>C (p.Met18247Thr) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:23861362|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28771489 10046534 CV189590 NM_001267550.2(TTN):c.54740T>C (p.Met18247Thr) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:23861362|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28771489 10046534 CV189590 NM_001267550.2(TTN):c.54740T>C (p.Met18247Thr) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28771489 10046535 CV189591 NM_001267550.2(TTN):c.54710T>C (p.Leu18237Pro) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31489791 10046535 CV189591 NM_001267550.2(TTN):c.54710T>C (p.Leu18237Pro) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Myopathy, early-onset, with fatal cardiomyopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31489791 10046535 CV189591 NM_001267550.2(TTN):c.54710T>C (p.Leu18237Pro) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2J PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31489791 10046535 CV189591 NM_001267550.2(TTN):c.54710T>C (p.Leu18237Pro) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31489791 10046535 CV189591 NM_001267550.2(TTN):c.54710T>C (p.Leu18237Pro) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31489791 10046535 CV189591 NM_001267550.2(TTN):c.54710T>C (p.Leu18237Pro) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31489791 10046535 CV189591 NM_001267550.2(TTN):c.54710T>C (p.Leu18237Pro) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31489791 10046536 CV189592 NM_001267550.2(TTN):c.54581G>A (p.Gly18194Asp) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868|PMID:28492532 10046538 CV189594 NM_001267550.2(TTN):c.53708G>A (p.Arg17903His) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Myopathy, early-onset, with fatal cardiomyopathy PMID:23861362|PMID:28492532 10046538 CV189594 NM_001267550.2(TTN):c.53708G>A (p.Arg17903His) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2J PMID:23861362|PMID:28492532 10046538 CV189594 NM_001267550.2(TTN):c.53708G>A (p.Arg17903His) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:28492532 10046538 CV189594 NM_001267550.2(TTN):c.53708G>A (p.Arg17903His) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:23861362|PMID:28492532 10046538 CV189594 NM_001267550.2(TTN):c.53708G>A (p.Arg17903His) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:23861362|PMID:28492532 10046541 CV189597 NM_001267550.2(TTN):c.49367G>A (p.Arg16456His) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early-onset myopathy with fatal cardiomyopathy PMID:23861362|PMID:25741868|PMID:30415094 10046541 CV189597 NM_001267550.2(TTN):c.49367G>A (p.Arg16456His) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:23861362|PMID:25741868|PMID:30415094 10046541 CV189597 NM_001267550.2(TTN):c.49367G>A (p.Arg16456His) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868|PMID:30415094 10046541 CV189597 NM_001267550.2(TTN):c.49367G>A (p.Arg16456His) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:23861362|PMID:25741868|PMID:30415094 10046541 CV189597 NM_001267550.2(TTN):c.49367G>A (p.Arg16456His) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:23861362|PMID:25741868|PMID:30415094 10046543 CV189599 NM_001267550.2(TTN):c.49070C>T (p.Ala16357Val) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early-onset myopathy with fatal cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046543 CV189599 NM_001267550.2(TTN):c.49070C>T (p.Ala16357Val) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:23861362|PMID:25741868|PMID:28492532 10046543 CV189599 NM_001267550.2(TTN):c.49070C>T (p.Ala16357Val) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868|PMID:28492532 10046543 CV189599 NM_001267550.2(TTN):c.49070C>T (p.Ala16357Val) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:23861362|PMID:25741868|PMID:28492532 10046543 CV189599 NM_001267550.2(TTN):c.49070C>T (p.Ala16357Val) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:23861362|PMID:25741868|PMID:28492532 10046544 CV189600 NM_001267550.2(TTN):c.48751G>A (p.Asp16251Asn) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868|PMID:28492532 10046545 CV189601 NM_001267550.2(TTN):c.48595T>C (p.Ser16199Pro) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868 10046545 CV189601 NM_001267550.2(TTN):c.48595T>C (p.Ser16199Pro) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Myopathy, early-onset, with fatal cardiomyopathy PMID:23861362|PMID:25741868 10046545 CV189601 NM_001267550.2(TTN):c.48595T>C (p.Ser16199Pro) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2J PMID:23861362|PMID:25741868 10046545 CV189601 NM_001267550.2(TTN):c.48595T>C (p.Ser16199Pro) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868 10046545 CV189601 NM_001267550.2(TTN):c.48595T>C (p.Ser16199Pro) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:23861362|PMID:25741868 10046545 CV189601 NM_001267550.2(TTN):c.48595T>C (p.Ser16199Pro) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:23861362|PMID:25741868 10046546 CV189602 NM_001267550.2(TTN):c.48118C>T (p.Arg16040Cys) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868 10046547 CV189603 NM_001267550.2(TTN):c.48079C>T (p.Arg16027Cys) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:28492532 10046548 CV189604 NM_001267550.2(TTN):c.47936C>T (p.Pro15979Leu) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:23861362|PMID:25741868|PMID:28492532 10046548 CV189604 NM_001267550.2(TTN):c.47936C>T (p.Pro15979Leu) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868|PMID:28492532 10046549 CV189605 NM_001267550.2(TTN):c.47089C>T (p.Arg15697Cys) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:23861362|PMID:28492532 10046549 CV189605 NM_001267550.2(TTN):c.47089C>T (p.Arg15697Cys) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:28492532 10046550 CV189606 NM_001267550.2(TTN):c.45247C>T (p.Arg15083Trp) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:24033266|PMID:25741868 10046551 CV189607 NM_001267550.2(TTN):c.45199G>A (p.Asp15067Asn) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868|PMID:26467025|PMID:30086531 10046554 CV189615 NM_001267550.2(TTN):c.43290A>C (p.Glu14430Asp) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868 10046555 CV189616 NM_001267550.2(TTN):c.42839A>G (p.Asp14280Gly) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:23861362|PMID:28492532 10046555 CV189616 NM_001267550.2(TTN):c.42839A>G (p.Asp14280Gly) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:28492532 10046557 CV189619 NM_001267550.2(TTN):c.41521G>A (p.Asp13841Asn) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:23861362|PMID:24033266|PMID:25214167|PMID:25741868|PMID:28492532|PMID:30615648|PMID:31028938 10046557 CV189619 NM_001267550.2(TTN):c.41521G>A (p.Asp13841Asn) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Myopathy, early-onset, with fatal cardiomyopathy PMID:23861362|PMID:24033266|PMID:25214167|PMID:25741868|PMID:28492532|PMID:30615648|PMID:31028938 10046557 CV189619 NM_001267550.2(TTN):c.41521G>A (p.Asp13841Asn) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2J PMID:23861362|PMID:24033266|PMID:25214167|PMID:25741868|PMID:28492532|PMID:30615648|PMID:31028938 10046557 CV189619 NM_001267550.2(TTN):c.41521G>A (p.Asp13841Asn) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:24033266|PMID:25214167|PMID:25741868|PMID:28492532|PMID:30615648|PMID:31028938 10046557 CV189619 NM_001267550.2(TTN):c.41521G>A (p.Asp13841Asn) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:23861362|PMID:24033266|PMID:25214167|PMID:25741868|PMID:28492532|PMID:30615648|PMID:31028938 10046557 CV189619 NM_001267550.2(TTN):c.41521G>A (p.Asp13841Asn) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:23861362|PMID:24033266|PMID:25214167|PMID:25741868|PMID:28492532|PMID:30615648|PMID:31028938 10046557 CV189619 NM_001267550.2(TTN):c.41521G>A (p.Asp13841Asn) variant DOID:423 myopathy IAGP D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Myopathy PMID:23861362|PMID:24033266|PMID:25214167|PMID:25741868|PMID:28492532|PMID:30615648|PMID:31028938 10046558 CV189620 NM_001267550.2(TTN):c.41423G>A (p.Arg13808His) variant DOID:0110315 hypertrophic cardiomyopathy 9 IAGP D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 9 PMID:23861362|PMID:25741868 10046558 CV189620 NM_001267550.2(TTN):c.41423G>A (p.Arg13808His) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868 10046562 CV189627 NM_001267550.2(TTN):c.39941C>A (p.Thr13314Asn) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868|PMID:28492532 10046563 CV189628 NM_001267550.2(TTN):c.39673C>T (p.Pro13225Ser) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868|PMID:28492532 10046564 CV189629 NM_001267550.2(TTN):c.39235G>A (p.Val13079Ile) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early-onset myopathy with fatal cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046564 CV189629 NM_001267550.2(TTN):c.39235G>A (p.Val13079Ile) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:23861362|PMID:25741868|PMID:28492532 10046564 CV189629 NM_001267550.2(TTN):c.39235G>A (p.Val13079Ile) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868|PMID:28492532 10046564 CV189629 NM_001267550.2(TTN):c.39235G>A (p.Val13079Ile) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:23861362|PMID:25741868|PMID:28492532 10046564 CV189629 NM_001267550.2(TTN):c.39235G>A (p.Val13079Ile) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:23861362|PMID:25741868|PMID:28492532 10046564 CV189629 NM_001267550.2(TTN):c.39235G>A (p.Val13079Ile) variant DOID:630 genetic disease IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23861362|PMID:25741868|PMID:28492532 10046565 CV189630 NM_001267550.2(TTN):c.39050A>G (p.Glu13017Gly) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Myopathy, early-onset, with fatal cardiomyopathy PMID:23861362|PMID:28492532 10046565 CV189630 NM_001267550.2(TTN):c.39050A>G (p.Glu13017Gly) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2J PMID:23861362|PMID:28492532 10046565 CV189630 NM_001267550.2(TTN):c.39050A>G (p.Glu13017Gly) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:28492532 10046565 CV189630 NM_001267550.2(TTN):c.39050A>G (p.Glu13017Gly) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:23861362|PMID:28492532 10046565 CV189630 NM_001267550.2(TTN):c.39050A>G (p.Glu13017Gly) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:23861362|PMID:28492532 10046566 CV189633 NM_001267550.2(TTN):c.38131G>T (p.Val12711Leu) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868 10046569 CV189649 NM_001267550.2(TTN):c.36254A>G (p.Gln12085Arg) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:28492532 10046570 CV189650 NM_001267550.2(TTN):c.36044C>G (p.Thr12015Arg) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868|PMID:28492532|PMID:31392414|PMID:37199186 10046571 CV189652 NM_001267550.2(TTN):c.35387C>A (p.Ala11796Glu) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:28492532 10046573 CV189655 NM_001267550.2(TTN):c.34216C>A (p.Pro11406Thr) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046573 CV189655 NM_001267550.2(TTN):c.34216C>A (p.Pro11406Thr) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Myopathy, early-onset, with fatal cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046573 CV189655 NM_001267550.2(TTN):c.34216C>A (p.Pro11406Thr) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10 PMID:23861362|PMID:25741868|PMID:28492532 10046573 CV189655 NM_001267550.2(TTN):c.34216C>A (p.Pro11406Thr) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868|PMID:28492532 10046573 CV189655 NM_001267550.2(TTN):c.34216C>A (p.Pro11406Thr) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Udd Distal Myopathy PMID:23861362|PMID:25741868|PMID:28492532 10046573 CV189655 NM_001267550.2(TTN):c.34216C>A (p.Pro11406Thr) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20190702 ClinVar ClinVar Annotator: match by term: Hereditary myopathy with early respiratory failure PMID:23861362|PMID:25741868|PMID:28492532 10046574 CV189659 NM_001267550.2(TTN):c.32653A>T (p.Met10885Leu) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868 10046576 CV189661 NM_001267550.2(TTN):c.31735A>C (p.Lys10579Gln) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Salih Myopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 10046576 CV189661 NM_001267550.2(TTN):c.31735A>C (p.Lys10579Gln) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10 PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 10046576 CV189661 NM_001267550.2(TTN):c.31735A>C (p.Lys10579Gln) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 10046576 CV189661 NM_001267550.2(TTN):c.31735A>C (p.Lys10579Gln) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 10046576 CV189661 NM_001267550.2(TTN):c.31735A>C (p.Lys10579Gln) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 10046578 CV189663 NM_001267550.2(TTN):c.30598G>C (p.Glu10200Gln) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:17576681|PMID:23861362|PMID:24033266|PMID:25589632|PMID:25741868|PMID:26467025|PMID:27493940|PMID:28492532|PMID:32778822|PMID:9536098 10046579 CV189665 NM_001267550.2(TTN):c.28681G>A (p.Ala9561Thr) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Myopathy, early-onset, with fatal cardiomyopathy PMID:23861362 10046579 CV189665 NM_001267550.2(TTN):c.28681G>A (p.Ala9561Thr) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2J PMID:23861362 10046579 CV189665 NM_001267550.2(TTN):c.28681G>A (p.Ala9561Thr) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362 10046579 CV189665 NM_001267550.2(TTN):c.28681G>A (p.Ala9561Thr) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:23861362 10046579 CV189665 NM_001267550.2(TTN):c.28681G>A (p.Ala9561Thr) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:23861362 10046580 CV189666 NM_001267550.2(TTN):c.28465C>T (p.Arg9489Trp) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Myopathy, early-onset, with fatal cardiomyopathy PMID:23861362|PMID:25741868 10046580 CV189666 NM_001267550.2(TTN):c.28465C>T (p.Arg9489Trp) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2J PMID:23861362|PMID:25741868 10046580 CV189666 NM_001267550.2(TTN):c.28465C>T (p.Arg9489Trp) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868 10046580 CV189666 NM_001267550.2(TTN):c.28465C>T (p.Arg9489Trp) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:23861362|PMID:25741868 10046580 CV189666 NM_001267550.2(TTN):c.28465C>T (p.Arg9489Trp) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:23861362|PMID:25741868 10046581 CV189667 NM_001267550.2(TTN):c.28262C>T (p.Thr9421Met) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868|PMID:28492532 10046582 CV189670 NM_001267550.2(TTN):c.27619T>G (p.Phe9207Val) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868 10046583 CV189671 NM_001267550.2(TTN):c.27193T>C (p.Cys9065Arg) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868|PMID:28492532 10046584 CV189673 NM_001267550.2(TTN):c.25877A>G (p.Asn8626Ser) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:23861362|PMID:25741868|PMID:26467025|PMID:28492532 10046584 CV189673 NM_001267550.2(TTN):c.25877A>G (p.Asn8626Ser) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Early-onset myopathy with fatal cardiomyopathy PMID:23861362|PMID:25741868|PMID:26467025|PMID:28492532 10046584 CV189673 NM_001267550.2(TTN):c.25877A>G (p.Asn8626Ser) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:23861362|PMID:25741868|PMID:26467025|PMID:28492532 10046584 CV189673 NM_001267550.2(TTN):c.25877A>G (p.Asn8626Ser) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868|PMID:26467025|PMID:28492532 10046584 CV189673 NM_001267550.2(TTN):c.25877A>G (p.Asn8626Ser) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:23861362|PMID:25741868|PMID:26467025|PMID:28492532 10046584 CV189673 NM_001267550.2(TTN):c.25877A>G (p.Asn8626Ser) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:23861362|PMID:25741868|PMID:26467025|PMID:28492532 10046592 CV189686 NM_001267550.2(TTN):c.19995A>T (p.Glu6665Asp) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early-onset myopathy with fatal cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046592 CV189686 NM_001267550.2(TTN):c.19995A>T (p.Glu6665Asp) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:23861362|PMID:25741868|PMID:28492532 10046592 CV189686 NM_001267550.2(TTN):c.19995A>T (p.Glu6665Asp) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868|PMID:28492532 10046592 CV189686 NM_001267550.2(TTN):c.19995A>T (p.Glu6665Asp) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:23861362|PMID:25741868|PMID:28492532 10046592 CV189686 NM_001267550.2(TTN):c.19995A>T (p.Glu6665Asp) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:23861362|PMID:25741868|PMID:28492532 10046593 CV189687 NM_001267550.2(TTN):c.19547A>T (p.Lys6516Met) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046593 CV189687 NM_001267550.2(TTN):c.19547A>T (p.Lys6516Met) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Myopathy, early-onset, with fatal cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046593 CV189687 NM_001267550.2(TTN):c.19547A>T (p.Lys6516Met) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2J PMID:23861362|PMID:25741868|PMID:28492532 10046593 CV189687 NM_001267550.2(TTN):c.19547A>T (p.Lys6516Met) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868|PMID:28492532 10046593 CV189687 NM_001267550.2(TTN):c.19547A>T (p.Lys6516Met) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:23861362|PMID:25741868|PMID:28492532 10046593 CV189687 NM_001267550.2(TTN):c.19547A>T (p.Lys6516Met) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:23861362|PMID:25741868|PMID:28492532 10046597 CV189691 NM_001267550.2(TTN):c.17869C>G (p.Gln5957Glu) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10 PMID:23861362|PMID:28492532 10046597 CV189691 NM_001267550.2(TTN):c.17869C>G (p.Gln5957Glu) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:28492532 10046598 CV189692 NM_001267550.2(TTN):c.17302G>A (p.Asp5768Asn) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:23861362|PMID:25741868|PMID:28492532|PMID:37091313 10046598 CV189692 NM_001267550.2(TTN):c.17302G>A (p.Asp5768Asn) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:23861362|PMID:25741868|PMID:28492532|PMID:37091313 10046598 CV189692 NM_001267550.2(TTN):c.17302G>A (p.Asp5768Asn) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868|PMID:28492532|PMID:37091313 10046599 CV189693 NM_001267550.2(TTN):c.16549T>G (p.Ser5517Ala) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868 10046603 CV189698 NM_001267550.2(TTN):c.15086G>A (p.Arg5029Gln) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868 10046604 CV189699 NM_001267550.2(TTN):c.14869A>C (p.Thr4957Pro) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868|PMID:28492532 10046606 CV189701 NM_001267550.2(TTN):c.13701T>G (p.Asp4567Glu) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:28492532 10046607 CV189702 NM_001267550.2(TTN):c.12821G>A (p.Ser4274Asn) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10046607 CV189702 NM_001267550.2(TTN):c.12821G>A (p.Ser4274Asn) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10046607 CV189702 NM_001267550.2(TTN):c.12821G>A (p.Ser4274Asn) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10046612 CV189707 NM_133379.5(TTN):c.16321C>T (p.Arg5441Ter) variant DOID:0050431 arrhythmogenic right ventricular cardiomyopathy IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy PMID:23861362|PMID:25741868 10046612 CV189707 NM_133379.5(TTN):c.16321C>T (p.Arg5441Ter) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868 10046616 CV189711 NM_133379.5(TTN):c.15349T>G (p.Tyr5117Asp) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868 10046623 CV189722 NM_133379.5(TTN):c.13412G>C (p.Gly4471Ala) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Salih Myopathy PMID:23861362|PMID:25741868 10046623 CV189722 NM_133379.5(TTN):c.13412G>C (p.Gly4471Ala) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10 PMID:23861362|PMID:25741868 10046623 CV189722 NM_133379.5(TTN):c.13412G>C (p.Gly4471Ala) variant DOID:0110315 hypertrophic cardiomyopathy 9 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 9 PMID:23861362|PMID:25741868 10046623 CV189722 NM_133379.5(TTN):c.13412G>C (p.Gly4471Ala) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868 10046623 CV189722 NM_133379.5(TTN):c.13412G>C (p.Gly4471Ala) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Udd Distal Myopathy PMID:23861362|PMID:25741868 10046623 CV189722 NM_133379.5(TTN):c.13412G>C (p.Gly4471Ala) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant PMID:23861362|PMID:25741868 10046627 CV189727 NM_133379.5(TTN):c.11942A>G (p.Asp3981Gly) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868 10046628 CV189728 NM_133379.5(TTN):c.11834C>T (p.Ser3945Leu) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868 10046630 CV189732 NM_001267550.2(TTN):c.10770G>C (p.Glu3590Asp) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Salih Myopathy PMID:23861362|PMID:25741868|PMID:28492532|PMID:33449170 10046630 CV189732 NM_001267550.2(TTN):c.10770G>C (p.Glu3590Asp) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:23861362|PMID:25741868|PMID:28492532|PMID:33449170 10046630 CV189732 NM_001267550.2(TTN):c.10770G>C (p.Glu3590Asp) variant DOID:0110315 hypertrophic cardiomyopathy 9 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 9 PMID:23861362|PMID:25741868|PMID:28492532|PMID:33449170 10046630 CV189732 NM_001267550.2(TTN):c.10770G>C (p.Glu3590Asp) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868|PMID:28492532|PMID:33449170 10046630 CV189732 NM_001267550.2(TTN):c.10770G>C (p.Glu3590Asp) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Udd Distal Myopathy PMID:23861362|PMID:25741868|PMID:28492532|PMID:33449170 10046630 CV189732 NM_001267550.2(TTN):c.10770G>C (p.Glu3590Asp) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant PMID:23861362|PMID:25741868|PMID:28492532|PMID:33449170 10046631 CV189733 NM_001267550.2(TTN):c.9857A>G (p.Lys3286Arg) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:24667040|PMID:25741868|PMID:27321809|PMID:28492532 10046631 CV189733 NM_001267550.2(TTN):c.9857A>G (p.Lys3286Arg) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10 PMID:23861362|PMID:24667040|PMID:25741868|PMID:27321809|PMID:28492532 10046631 CV189733 NM_001267550.2(TTN):c.9857A>G (p.Lys3286Arg) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:24667040|PMID:25741868|PMID:27321809|PMID:28492532 10046632 CV189734 NM_001267550.2(TTN):c.9707C>T (p.Pro3236Leu) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Early-onset myopathy with fatal cardiomyopathy PMID:23861362|PMID:25741868|PMID:27302369|PMID:28492532 10046632 CV189734 NM_001267550.2(TTN):c.9707C>T (p.Pro3236Leu) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:23861362|PMID:25741868|PMID:27302369|PMID:28492532 10046632 CV189734 NM_001267550.2(TTN):c.9707C>T (p.Pro3236Leu) variant DOID:0110315 hypertrophic cardiomyopathy 9 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 9 PMID:23861362|PMID:25741868|PMID:27302369|PMID:28492532 10046632 CV189734 NM_001267550.2(TTN):c.9707C>T (p.Pro3236Leu) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868|PMID:27302369|PMID:28492532 10046632 CV189734 NM_001267550.2(TTN):c.9707C>T (p.Pro3236Leu) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Udd Distal Myopathy PMID:23861362|PMID:25741868|PMID:27302369|PMID:28492532 10046632 CV189734 NM_001267550.2(TTN):c.9707C>T (p.Pro3236Leu) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant PMID:23861362|PMID:25741868|PMID:27302369|PMID:28492532 10046633 CV189736 NM_001267550.2(TTN):c.9363G>A (p.Met3121Ile) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Salih Myopathy PMID:23861362|PMID:25741868 10046633 CV189736 NM_001267550.2(TTN):c.9363G>A (p.Met3121Ile) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10 PMID:23861362|PMID:25741868 10046633 CV189736 NM_001267550.2(TTN):c.9363G>A (p.Met3121Ile) variant DOID:0110315 hypertrophic cardiomyopathy 9 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 9 PMID:23861362|PMID:25741868 10046633 CV189736 NM_001267550.2(TTN):c.9363G>A (p.Met3121Ile) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868 10046633 CV189736 NM_001267550.2(TTN):c.9363G>A (p.Met3121Ile) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Udd Distal Myopathy PMID:23861362|PMID:25741868 10046633 CV189736 NM_001267550.2(TTN):c.9363G>A (p.Met3121Ile) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant PMID:23861362|PMID:25741868 10046635 CV189738 NM_001267550.2(TTN):c.8788G>A (p.Val2930Ile) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046635 CV189738 NM_001267550.2(TTN):c.8788G>A (p.Val2930Ile) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868|PMID:28492532 10046638 CV189741 NM_001267550.2(TTN):c.7468C>T (p.Arg2490Cys) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868|PMID:28492532 10046639 CV189743 NM_001267550.2(TTN):c.6927T>A (p.Asn2309Lys) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:23861362|PMID:28492532 10046639 CV189743 NM_001267550.2(TTN):c.6927T>A (p.Asn2309Lys) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:28492532 10046640 CV189744 NM_001267550.2(TTN):c.6770C>G (p.Thr2257Ser) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:28492532 10046641 CV189745 NM_001267550.2(TTN):c.6668A>T (p.His2223Leu) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046641 CV189745 NM_001267550.2(TTN):c.6668A>T (p.His2223Leu) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Salih Myopathy PMID:23861362|PMID:25741868|PMID:28492532 10046641 CV189745 NM_001267550.2(TTN):c.6668A>T (p.His2223Leu) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2J PMID:23861362|PMID:25741868|PMID:28492532 10046641 CV189745 NM_001267550.2(TTN):c.6668A>T (p.His2223Leu) variant DOID:0110315 hypertrophic cardiomyopathy 9 IAGP D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 9 PMID:23861362|PMID:25741868|PMID:28492532 10046641 CV189745 NM_001267550.2(TTN):c.6668A>T (p.His2223Leu) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868|PMID:28492532 10046641 CV189745 NM_001267550.2(TTN):c.6668A>T (p.His2223Leu) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Udd Distal Myopathy PMID:23861362|PMID:25741868|PMID:28492532 10046641 CV189745 NM_001267550.2(TTN):c.6668A>T (p.His2223Leu) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20190702 ClinVar ClinVar Annotator: match by term: Hereditary myopathy with early respiratory failure PMID:23861362|PMID:25741868|PMID:28492532 10046641 CV189745 NM_001267550.2(TTN):c.6668A>T (p.His2223Leu) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046642 CV189746 NM_001267550.2(TTN):c.6584A>G (p.Glu2195Gly) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early-onset myopathy with fatal cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046642 CV189746 NM_001267550.2(TTN):c.6584A>G (p.Glu2195Gly) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:23861362|PMID:25741868|PMID:28492532 10046642 CV189746 NM_001267550.2(TTN):c.6584A>G (p.Glu2195Gly) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868|PMID:28492532 10046642 CV189746 NM_001267550.2(TTN):c.6584A>G (p.Glu2195Gly) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:23861362|PMID:25741868|PMID:28492532 10046642 CV189746 NM_001267550.2(TTN):c.6584A>G (p.Glu2195Gly) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:23861362|PMID:25741868|PMID:28492532 10046643 CV189748 NM_001267550.2(TTN):c.5855A>G (p.His1952Arg) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:28492532 10046644 CV189750 NM_001267550.2(TTN):c.5665G>T (p.Val1889Phe) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Salih Myopathy PMID:23861362|PMID:25741868 10046644 CV189750 NM_001267550.2(TTN):c.5665G>T (p.Val1889Phe) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10 PMID:23861362|PMID:25741868 10046644 CV189750 NM_001267550.2(TTN):c.5665G>T (p.Val1889Phe) variant DOID:0110315 hypertrophic cardiomyopathy 9 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 9 PMID:23861362|PMID:25741868 10046644 CV189750 NM_001267550.2(TTN):c.5665G>T (p.Val1889Phe) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868 10046644 CV189750 NM_001267550.2(TTN):c.5665G>T (p.Val1889Phe) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Udd Distal Myopathy PMID:23861362|PMID:25741868 10046644 CV189750 NM_001267550.2(TTN):c.5665G>T (p.Val1889Phe) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant PMID:23861362|PMID:25741868 10046645 CV189751 NM_001267550.2(TTN):c.5479G>A (p.Ala1827Thr) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868 10046647 CV189753 NM_001267550.2(TTN):c.5264A>G (p.Asn1755Ser) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23396983|PMID:23861362|PMID:25741868|PMID:26467025|PMID:28492532 10046649 CV189755 NM_001267550.2(TTN):c.4321C>T (p.Arg1441Cys) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Salih Myopathy PMID:23861362|PMID:25741868|PMID:28492532 10046649 CV189755 NM_001267550.2(TTN):c.4321C>T (p.Arg1441Cys) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10 PMID:23861362|PMID:25741868|PMID:28492532 10046649 CV189755 NM_001267550.2(TTN):c.4321C>T (p.Arg1441Cys) variant DOID:0110315 hypertrophic cardiomyopathy 9 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 9 PMID:23861362|PMID:25741868|PMID:28492532 10046649 CV189755 NM_001267550.2(TTN):c.4321C>T (p.Arg1441Cys) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868|PMID:28492532 10046649 CV189755 NM_001267550.2(TTN):c.4321C>T (p.Arg1441Cys) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Udd Distal Myopathy PMID:23861362|PMID:25741868|PMID:28492532 10046649 CV189755 NM_001267550.2(TTN):c.4321C>T (p.Arg1441Cys) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant PMID:23861362|PMID:25741868|PMID:28492532 10046650 CV189756 NM_001267550.2(TTN):c.4076A>G (p.Glu1359Gly) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046650 CV189756 NM_001267550.2(TTN):c.4076A>G (p.Glu1359Gly) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Early-onset myopathy with fatal cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046650 CV189756 NM_001267550.2(TTN):c.4076A>G (p.Glu1359Gly) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:23861362|PMID:25741868|PMID:28492532 10046650 CV189756 NM_001267550.2(TTN):c.4076A>G (p.Glu1359Gly) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868|PMID:28492532 10046650 CV189756 NM_001267550.2(TTN):c.4076A>G (p.Glu1359Gly) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:23861362|PMID:25741868|PMID:28492532 10046650 CV189756 NM_001267550.2(TTN):c.4076A>G (p.Glu1359Gly) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:23861362|PMID:25741868|PMID:28492532 10046652 CV189758 NM_001267550.2(TTN):c.3616G>T (p.Ala1206Ser) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:28492532 10046653 CV189759 NM_001267550.2(TTN):c.3476G>T (p.Arg1159Leu) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362 10046654 CV189760 NM_001267550.2(TTN):c.3241G>T (p.Ala1081Ser) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046654 CV189760 NM_001267550.2(TTN):c.3241G>T (p.Ala1081Ser) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Early-onset myopathy with fatal cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046654 CV189760 NM_001267550.2(TTN):c.3241G>T (p.Ala1081Ser) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:23861362|PMID:25741868|PMID:28492532 10046654 CV189760 NM_001267550.2(TTN):c.3241G>T (p.Ala1081Ser) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868|PMID:28492532 10046654 CV189760 NM_001267550.2(TTN):c.3241G>T (p.Ala1081Ser) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:23861362|PMID:25741868|PMID:28492532 10046654 CV189760 NM_001267550.2(TTN):c.3241G>T (p.Ala1081Ser) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:23861362|PMID:25741868|PMID:28492532 10046655 CV189761 NM_001267550.2(TTN):c.3010G>A (p.Glu1004Lys) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2J PMID:23861362|PMID:26467025|PMID:28492532 10046655 CV189761 NM_001267550.2(TTN):c.3010G>A (p.Glu1004Lys) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:26467025|PMID:28492532 10046657 CV189763 NM_001267550.2(TTN):c.2504C>A (p.Ala835Asp) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early-onset myopathy with fatal cardiomyopathy PMID:23861362|PMID:25741868 10046657 CV189763 NM_001267550.2(TTN):c.2504C>A (p.Ala835Asp) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:23861362|PMID:25741868 10046657 CV189763 NM_001267550.2(TTN):c.2504C>A (p.Ala835Asp) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868 10046657 CV189763 NM_001267550.2(TTN):c.2504C>A (p.Ala835Asp) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:23861362|PMID:25741868 10046657 CV189763 NM_001267550.2(TTN):c.2504C>A (p.Ala835Asp) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:23861362|PMID:25741868 10046658 CV189764 NM_001267550.2(TTN):c.2358C>G (p.His786Gln) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Early-onset myopathy with fatal cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046658 CV189764 NM_001267550.2(TTN):c.2358C>G (p.His786Gln) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:23861362|PMID:25741868|PMID:28492532 10046658 CV189764 NM_001267550.2(TTN):c.2358C>G (p.His786Gln) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868|PMID:28492532 10046658 CV189764 NM_001267550.2(TTN):c.2358C>G (p.His786Gln) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:23861362|PMID:25741868|PMID:28492532 10046658 CV189764 NM_001267550.2(TTN):c.2358C>G (p.His786Gln) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:23861362|PMID:25741868|PMID:28492532 10046659 CV189765 NM_001267550.2(TTN):c.2254C>T (p.Arg752Cys) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868|PMID:28492532 10046660 CV189766 NM_001267550.2(TTN):c.2022A>C (p.Arg674Ser) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868|PMID:28492532 10046662 CV189769 NM_001267550.2(TTN):c.266C>G (p.Ala89Gly) variant DOID:0050451 Brugada syndrome IAGP D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:23861362|PMID:25741868|PMID:28492532 10046662 CV189769 NM_001267550.2(TTN):c.266C>G (p.Ala89Gly) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Myopathy, early-onset, with fatal cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046662 CV189769 NM_001267550.2(TTN):c.266C>G (p.Ala89Gly) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20180206 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2J PMID:23861362|PMID:25741868|PMID:28492532 10046662 CV189769 NM_001267550.2(TTN):c.266C>G (p.Ala89Gly) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20180206 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868|PMID:28492532 10046662 CV189769 NM_001267550.2(TTN):c.266C>G (p.Ala89Gly) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:23861362|PMID:25741868|PMID:28492532 10046662 CV189769 NM_001267550.2(TTN):c.266C>G (p.Ala89Gly) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:23861362|PMID:25741868|PMID:28492532 10046662 CV189769 NM_001267550.2(TTN):c.266C>G (p.Ala89Gly) variant DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:23861362|PMID:25741868|PMID:28492532 10046663 CV189863 NM_014000.3(VCL):c.404T>C (p.Ile135Thr) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532|PMID:29875424 10046663 CV189863 NM_014000.3(VCL):c.404T>C (p.Ile135Thr) variant DOID:0110321 hypertrophic cardiomyopathy 15 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: VCL-related condition PMID:23861362|PMID:25741868|PMID:28492532|PMID:29875424 10046663 CV189863 NM_014000.3(VCL):c.404T>C (p.Ile135Thr) variant DOID:0110446 dilated cardiomyopathy 1W IAGP D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1W PMID:23861362|PMID:25741868|PMID:28492532|PMID:29875424 10046664 CV189864 NM_014000.3(VCL):c.695T>A (p.Phe232Tyr) variant DOID:0110446 dilated cardiomyopathy 1W IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1W PMID:23861362|PMID:28492532|PMID:30847666 10046665 CV189865 NM_014000.3(VCL):c.1157A>G (p.Lys386Arg) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 10046665 CV189865 NM_014000.3(VCL):c.1157A>G (p.Lys386Arg) variant DOID:0110321 hypertrophic cardiomyopathy 15 IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: VCL-related condition PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 10046665 CV189865 NM_014000.3(VCL):c.1157A>G (p.Lys386Arg) variant DOID:0110446 dilated cardiomyopathy 1W IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1W PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 10046665 CV189865 NM_014000.3(VCL):c.1157A>G (p.Lys386Arg) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 10046666 CV189866 NM_014000.3(VCL):c.1192C>T (p.Pro398Ser) variant DOID:0110321 hypertrophic cardiomyopathy 15 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 15 PMID:23861362|PMID:25741868|PMID:28492532 10046666 CV189866 NM_014000.3(VCL):c.1192C>T (p.Pro398Ser) variant DOID:0110446 dilated cardiomyopathy 1W IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1W PMID:23861362|PMID:25741868|PMID:28492532 10046667 CV189867 NM_014000.3(VCL):c.1225C>T (p.Arg409Ter) variant DOID:0110321 hypertrophic cardiomyopathy 15 IAGP D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: VCL-related condition PMID:23861362|PMID:25741868|PMID:28492532|PMID:32516855 10046667 CV189867 NM_014000.3(VCL):c.1225C>T (p.Arg409Ter) variant DOID:0110446 dilated cardiomyopathy 1W IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1W PMID:23861362|PMID:25741868|PMID:28492532|PMID:32516855 10046668 CV189868 NM_014000.3(VCL):c.1607C>A (p.Pro536His) variant DOID:0110446 dilated cardiomyopathy 1W IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1W PMID:23861362|PMID:28492532 10046669 CV189869 NM_014000.3(VCL):c.2521G>C (p.Asp841His) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 10046669 CV189869 NM_014000.3(VCL):c.2521G>C (p.Asp841His) variant DOID:0110446 dilated cardiomyopathy 1W IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1W PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 10046670 CV189871 NM_014000.3(VCL):c.2893C>T (p.Pro965Ser) variant DOID:0110321 hypertrophic cardiomyopathy 15 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 15 PMID:23861362|PMID:25299611|PMID:25741868|PMID:28492532 10046670 CV189871 NM_014000.3(VCL):c.2893C>T (p.Pro965Ser) variant DOID:0110446 dilated cardiomyopathy 1W IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1W PMID:23861362|PMID:25299611|PMID:25741868|PMID:28492532 10046671 CV189894 NM_020297.4(ABCC9):c.4512+746_4512+747insT variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046671 CV189894 NM_020297.4(ABCC9):c.4512+746_4512+747insT variant DOID:0060569 hypertrichotic osteochondrodysplasia Cantu type IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Hypertrichotic osteochondrodysplasia Cantu type PMID:23861362|PMID:25741868|PMID:28492532 10046671 CV189894 NM_020297.4(ABCC9):c.4512+746_4512+747insT variant DOID:0110451 dilated cardiomyopathy 1O IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1O PMID:23861362|PMID:25741868|PMID:28492532 10046674 CV189396 NM_001103.4(ACTN2):c.1426G>A (p.Ala476Thr) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20180508 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 10046674 CV189396 NM_001103.4(ACTN2):c.1426G>A (p.Ala476Thr) variant DOID:0080326 familial hypertrophic cardiomyopathy IAGP D RGD:8554872 20180508 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 10046674 CV189396 NM_001103.4(ACTN2):c.1426G>A (p.Ala476Thr) variant DOID:0110307 hypertrophic cardiomyopathy 1 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 10046674 CV189396 NM_001103.4(ACTN2):c.1426G>A (p.Ala476Thr) variant DOID:0110428 dilated cardiomyopathy 1AA IAGP D RGD:8554872 20180508 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1AA PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 10046675 CV189842 NM_004281.4(BAG3):c.1436C>T (p.Ala479Val) variant DOID:0080097 myofibrillar myopathy 6 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 6 PMID:23861362|PMID:28492532|PMID:30140897 10046675 CV189842 NM_004281.4(BAG3):c.1436C>T (p.Ala479Val) variant DOID:0110448 dilated cardiomyopathy 1HH IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1HH PMID:23861362|PMID:28492532|PMID:30140897 10046677 CV189824 NM_004415.4(DSP):c.3297G>C (p.Lys1099Asn) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046677 CV189824 NM_004415.4(DSP):c.3297G>C (p.Lys1099Asn) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma PMID:23861362|PMID:25741868|PMID:28492532 10046677 CV189824 NM_004415.4(DSP):c.3297G>C (p.Lys1099Asn) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8 PMID:23861362|PMID:25741868|PMID:28492532 10046678 CV189826 NM_004415.4(DSP):c.4034A>C (p.Glu1345Ala) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046678 CV189826 NM_004415.4(DSP):c.4034A>C (p.Glu1345Ala) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Carvajal syndrome PMID:23861362|PMID:25741868|PMID:28492532 10046678 CV189826 NM_004415.4(DSP):c.4034A>C (p.Glu1345Ala) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 8 PMID:23861362|PMID:25741868|PMID:28492532 10046679 CV189827 NM_004415.4(DSP):c.4741A>G (p.Lys1581Glu) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23514727|PMID:23524727|PMID:23861362|PMID:25741868|PMID:28492532 10046679 CV189827 NM_004415.4(DSP):c.4741A>G (p.Lys1581Glu) variant DOID:0070554 palmoplantar keratoderma and woolly hair IAGP D RGD:8554872 20230620 ClinVar ClinVar Annotator: match by term: Skin fragility woolly hair syndrome PMID:23514727|PMID:23524727|PMID:23861362|PMID:25741868|PMID:28492532 10046679 CV189827 NM_004415.4(DSP):c.4741A>G (p.Lys1581Glu) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Carvajal syndrome PMID:23514727|PMID:23524727|PMID:23861362|PMID:25741868|PMID:28492532 10046679 CV189827 NM_004415.4(DSP):c.4741A>G (p.Lys1581Glu) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8 PMID:23514727|PMID:23524727|PMID:23861362|PMID:25741868|PMID:28492532 10046679 CV189827 NM_004415.4(DSP):c.4741A>G (p.Lys1581Glu) variant DOID:9002630 Epidermolysis Bullosa, Lethal Acantholytic IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Lethal acantholytic epidermolysis bullosa PMID:23514727|PMID:23524727|PMID:23861362|PMID:25741868|PMID:28492532 10046680 CV189816 NM_004100.5(EYA4):c.1035G>C (p.Arg345Ser) variant DOID:0110440 dilated cardiomyopathy 1J IAGP D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1J PMID:23861362|PMID:24033266|PMID:27068579|PMID:28492532|PMID:33745059 10046680 CV189816 NM_004100.5(EYA4):c.1035G>C (p.Arg345Ser) variant DOID:0110542 autosomal dominant nonsyndromic deafness 10 IAGP D RGD:8554872 20250723 ClinVar ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 10 PMID:23861362|PMID:24033266|PMID:27068579|PMID:28492532|PMID:33745059 10046681 CV189939 NM_002471.4(MYH6):c.2591C>T (p.Thr864Met) variant DOID:0080326 familial hypertrophic cardiomyopathy IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:23861362|PMID:28492532|PMID:33325730|PMID:35621855 10046681 CV189939 NM_002471.4(MYH6):c.2591C>T (p.Thr864Met) variant DOID:0110307 hypertrophic cardiomyopathy 1 IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:23861362|PMID:28492532|PMID:33325730|PMID:35621855 10046681 CV189939 NM_002471.4(MYH6):c.2591C>T (p.Thr864Met) variant DOID:0110320 hypertrophic cardiomyopathy 14 IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 14 PMID:23861362|PMID:28492532|PMID:33325730|PMID:35621855 10046681 CV189939 NM_002471.4(MYH6):c.2591C>T (p.Thr864Met) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:28492532|PMID:33325730|PMID:35621855 10046682 CV189941 NM_002471.4(MYH6):c.2206C>A (p.Gln736Lys) variant DOID:0110320 hypertrophic cardiomyopathy 14 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 14 PMID:23861362|PMID:28492532 10046683 CV189846 NM_032578.4(MYPN):c.952G>A (p.Val318Ile) variant DOID:0110445 dilated cardiomyopathy 1KK IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1KK PMID:23861362|PMID:25741868|PMID:28492532 10046683 CV189846 NM_032578.4(MYPN):c.952G>A (p.Val318Ile) variant DOID:0110933 nemaline myopathy 11 IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 11, autosomal recessive PMID:23861362|PMID:25741868|PMID:28492532 10046684 CV189849 NM_032578.4(MYPN):c.1790G>A (p.Arg597His) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20191008 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 10046684 CV189849 NM_032578.4(MYPN):c.1790G>A (p.Arg597His) variant DOID:0110445 dilated cardiomyopathy 1KK IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1KK PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 10046685 CV189855 NM_032578.4(MYPN):c.2863C>T (p.Arg955Trp) variant DOID:0110445 dilated cardiomyopathy 1KK IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1KK PMID:22892539|PMID:23861362|PMID:24033266|PMID:25741868|PMID:27532257|PMID:28087566|PMID:28492532|PMID:28798025|PMID:30775854|PMID:30847666 10046685 CV189855 NM_032578.4(MYPN):c.2863C>T (p.Arg955Trp) variant DOID:0110933 nemaline myopathy 11 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 11, autosomal recessive PMID:22892539|PMID:23861362|PMID:24033266|PMID:25741868|PMID:27532257|PMID:28087566|PMID:28492532|PMID:28798025|PMID:30775854|PMID:30847666 10046686 CV189861 NM_032578.4(MYPN):c.3846T>A (p.Ser1282Arg) variant DOID:0110445 dilated cardiomyopathy 1KK IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1KK PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30260051 10046686 CV189861 NM_032578.4(MYPN):c.3846T>A (p.Ser1282Arg) variant DOID:0110933 nemaline myopathy 11 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: MYPN-related myopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30260051 10046687 CV189910 NM_001005242.3(PKP2):c.1955A>G (p.Asn652Ser) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 10046687 CV189910 NM_001005242.3(PKP2):c.1955A>G (p.Asn652Ser) variant DOID:0110077 arrhythmogenic right ventricular dysplasia 9 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9 PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 10046688 CV189389 NM_000447.3(PSEN2):c.208G>A (p.Gly70Arg) variant DOID:0110040 Alzheimer's disease 4 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Alzheimer disease familial type 4 PMID:23383383|PMID:23861362|PMID:28492532 10046689 CV189962 NM_003239.5(TGFB3):c.293C>T (p.Ser98Leu) variant DOID:0050431 arrhythmogenic right ventricular cardiomyopathy IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:23861362|PMID:25637381|PMID:25741868|PMID:28492532|PMID:28798025|PMID:31568572 10046689 CV189962 NM_003239.5(TGFB3):c.293C>T (p.Ser98Leu) variant DOID:0070236 Loeys-Dietz syndrome 5 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rienhoff syndrome PMID:23861362|PMID:25637381|PMID:25741868|PMID:28492532|PMID:28798025|PMID:31568572 10046689 CV189962 NM_003239.5(TGFB3):c.293C>T (p.Ser98Leu) variant DOID:0110070 arrhythmogenic right ventricular dysplasia 1 IAGP D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: TGFB3-related condition PMID:23861362|PMID:25637381|PMID:25741868|PMID:28492532|PMID:28798025|PMID:31568572 10046689 CV189962 NM_003239.5(TGFB3):c.293C>T (p.Ser98Leu) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:25637381|PMID:25741868|PMID:28492532|PMID:28798025|PMID:31568572 10046689 CV189962 NM_003239.5(TGFB3):c.293C>T (p.Ser98Leu) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:23861362|PMID:25637381|PMID:25741868|PMID:28492532|PMID:28798025|PMID:31568572 10046689 CV189962 NM_003239.5(TGFB3):c.293C>T (p.Ser98Leu) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25637381|PMID:25741868|PMID:28492532|PMID:28798025|PMID:31568572 10046691 CV189921 NM_001032283.3(TMPO):c.565+1696C>T variant DOID:0050431 arrhythmogenic right ventricular cardiomyopathy IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:21270786|PMID:23861362|PMID:24375709|PMID:24448499|PMID:25741868|PMID:27981572|PMID:28074886|PMID:28492532|PMID:30327538 10046691 CV189921 NM_001032283.3(TMPO):c.565+1696C>T variant DOID:0070234 Loeys-Dietz syndrome 2 IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 3 PMID:21270786|PMID:23861362|PMID:24375709|PMID:24448499|PMID:25741868|PMID:27981572|PMID:28074886|PMID:28492532|PMID:30327538 10046691 CV189921 NM_001032283.3(TMPO):c.565+1696C>T variant DOID:0110452 dilated cardiomyopathy 1T IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1T PMID:21270786|PMID:23861362|PMID:24375709|PMID:24448499|PMID:25741868|PMID:27981572|PMID:28074886|PMID:28492532|PMID:30327538 10046691 CV189921 NM_001032283.3(TMPO):c.565+1696C>T variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant PMID:21270786|PMID:23861362|PMID:24375709|PMID:24448499|PMID:25741868|PMID:27981572|PMID:28074886|PMID:28492532|PMID:30327538 10046691 CV189921 NM_001032283.3(TMPO):c.565+1696C>T variant DOID:9004039 Marfan Syndrome Type 2 IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Marfan like connective tissue disorder PMID:21270786|PMID:23861362|PMID:24375709|PMID:24448499|PMID:25741868|PMID:27981572|PMID:28074886|PMID:28492532|PMID:30327538 10046691 CV189921 NM_001032283.3(TMPO):c.565+1696C>T variant DOID:9120 amyloidosis IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Amyloidosis PMID:21270786|PMID:23861362|PMID:24375709|PMID:24448499|PMID:25741868|PMID:27981572|PMID:28074886|PMID:28492532|PMID:30327538 10046692 CV189922 NM_001032283.3(TMPO):c.565+1750C>G variant DOID:0070234 Loeys-Dietz syndrome 2 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 2 PMID:23861362|PMID:28492532 10046693 CV189409 NM_001267550.2(TTN):c.106675G>C (p.Glu35559Gln) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27930701|PMID:28492532|PMID:33449170 10046693 CV189409 NM_001267550.2(TTN):c.106675G>C (p.Glu35559Gln) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Salih Myopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27930701|PMID:28492532|PMID:33449170 10046693 CV189409 NM_001267550.2(TTN):c.106675G>C (p.Glu35559Gln) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10 PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27930701|PMID:28492532|PMID:33449170 10046693 CV189409 NM_001267550.2(TTN):c.106675G>C (p.Glu35559Gln) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27930701|PMID:28492532|PMID:33449170 10046693 CV189409 NM_001267550.2(TTN):c.106675G>C (p.Glu35559Gln) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27930701|PMID:28492532|PMID:33449170 10046693 CV189409 NM_001267550.2(TTN):c.106675G>C (p.Glu35559Gln) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Hereditary myopathy with early respiratory failure PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27930701|PMID:28492532|PMID:33449170 10046694 CV189449 NM_001267550.2(TTN):c.98500G>A (p.Glu32834Lys) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:23861362|PMID:25163546|PMID:25741868|PMID:28492532 10046694 CV189449 NM_001267550.2(TTN):c.98500G>A (p.Glu32834Lys) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:23861362|PMID:25163546|PMID:25741868|PMID:28492532 10046694 CV189449 NM_001267550.2(TTN):c.98500G>A (p.Glu32834Lys) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25163546|PMID:25741868|PMID:28492532 10046695 CV189451 NM_001267550.2(TTN):c.97538G>A (p.Arg32513His) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29590070|PMID:31088516|PMID:37904629 10046695 CV189451 NM_001267550.2(TTN):c.97538G>A (p.Arg32513His) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Early-onset myopathy with fatal cardiomyopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29590070|PMID:31088516|PMID:37904629 10046695 CV189451 NM_001267550.2(TTN):c.97538G>A (p.Arg32513His) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29590070|PMID:31088516|PMID:37904629 10046695 CV189451 NM_001267550.2(TTN):c.97538G>A (p.Arg32513His) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29590070|PMID:31088516|PMID:37904629 10046695 CV189451 NM_001267550.2(TTN):c.97538G>A (p.Arg32513His) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29590070|PMID:31088516|PMID:37904629 10046695 CV189451 NM_001267550.2(TTN):c.97538G>A (p.Arg32513His) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29590070|PMID:31088516|PMID:37904629 10046696 CV189467 NM_001267550.2(TTN):c.93005G>T (p.Ser31002Ile) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23396983|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10046696 CV189467 NM_001267550.2(TTN):c.93005G>T (p.Ser31002Ile) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Early-onset myopathy with fatal cardiomyopathy PMID:23396983|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10046696 CV189467 NM_001267550.2(TTN):c.93005G>T (p.Ser31002Ile) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:23396983|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10046696 CV189467 NM_001267550.2(TTN):c.93005G>T (p.Ser31002Ile) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23396983|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10046696 CV189467 NM_001267550.2(TTN):c.93005G>T (p.Ser31002Ile) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:23396983|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10046696 CV189467 NM_001267550.2(TTN):c.93005G>T (p.Ser31002Ile) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:23396983|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10046697 CV189481 NM_001267550.2(TTN):c.88733G>A (p.Arg29578His) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:23861362|PMID:25741868|PMID:28492532 10046697 CV189481 NM_001267550.2(TTN):c.88733G>A (p.Arg29578His) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868|PMID:28492532 10046697 CV189481 NM_001267550.2(TTN):c.88733G>A (p.Arg29578His) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046698 CV189490 NM_001267550.2(TTN):c.86434A>G (p.Ile28812Val) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:23861362|PMID:28492532 10046698 CV189490 NM_001267550.2(TTN):c.86434A>G (p.Ile28812Val) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:28492532 10046699 CV189491 NM_001267550.2(TTN):c.85651C>A (p.Pro28551Thr) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Early-onset myopathy with fatal cardiomyopathy PMID:23861362|PMID:28492532|PMID:30959811|PMID:31879508 10046699 CV189491 NM_001267550.2(TTN):c.85651C>A (p.Pro28551Thr) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:23861362|PMID:28492532|PMID:30959811|PMID:31879508 10046699 CV189491 NM_001267550.2(TTN):c.85651C>A (p.Pro28551Thr) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:28492532|PMID:30959811|PMID:31879508 10046699 CV189491 NM_001267550.2(TTN):c.85651C>A (p.Pro28551Thr) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:23861362|PMID:28492532|PMID:30959811|PMID:31879508 10046699 CV189491 NM_001267550.2(TTN):c.85651C>A (p.Pro28551Thr) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:23861362|PMID:28492532|PMID:30959811|PMID:31879508 10046700 CV189507 NM_001267550.2(TTN):c.81892G>A (p.Asp27298Asn) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046700 CV189507 NM_001267550.2(TTN):c.81892G>A (p.Asp27298Asn) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Myopathy, early-onset, with fatal cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046700 CV189507 NM_001267550.2(TTN):c.81892G>A (p.Asp27298Asn) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2J PMID:23861362|PMID:25741868|PMID:28492532 10046700 CV189507 NM_001267550.2(TTN):c.81892G>A (p.Asp27298Asn) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868|PMID:28492532 10046700 CV189507 NM_001267550.2(TTN):c.81892G>A (p.Asp27298Asn) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:23861362|PMID:25741868|PMID:28492532 10046700 CV189507 NM_001267550.2(TTN):c.81892G>A (p.Asp27298Asn) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:23861362|PMID:25741868|PMID:28492532 10046701 CV189516 NM_001267550.2(TTN):c.79612A>G (p.Thr26538Ala) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10046701 CV189516 NM_001267550.2(TTN):c.79612A>G (p.Thr26538Ala) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, early-onset, with fatal cardiomyopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10046701 CV189516 NM_001267550.2(TTN):c.79612A>G (p.Thr26538Ala) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2J PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10046701 CV189516 NM_001267550.2(TTN):c.79612A>G (p.Thr26538Ala) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10046701 CV189516 NM_001267550.2(TTN):c.79612A>G (p.Thr26538Ala) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10046701 CV189516 NM_001267550.2(TTN):c.79612A>G (p.Thr26538Ala) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10046701 CV189516 NM_001267550.2(TTN):c.79612A>G (p.Thr26538Ala) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10046702 CV189522 NM_001267550.2(TTN):c.77216C>G (p.Ala25739Gly) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532|PMID:37091313 10046702 CV189522 NM_001267550.2(TTN):c.77216C>G (p.Ala25739Gly) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532|PMID:37091313 10046702 CV189522 NM_001267550.2(TTN):c.77216C>G (p.Ala25739Gly) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532|PMID:37091313 10046703 CV189523 NM_001267550.2(TTN):c.76987G>A (p.Asp25663Asn) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:23861362|PMID:25741868|PMID:26467025|PMID:28492532 10046703 CV189523 NM_001267550.2(TTN):c.76987G>A (p.Asp25663Asn) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868|PMID:26467025|PMID:28492532 10046704 CV189524 NM_001267550.2(TTN):c.76739C>A (p.Thr25580Lys) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23396983|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 10046704 CV189524 NM_001267550.2(TTN):c.76739C>A (p.Thr25580Lys) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Early-onset myopathy with fatal cardiomyopathy PMID:23396983|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 10046704 CV189524 NM_001267550.2(TTN):c.76739C>A (p.Thr25580Lys) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10 PMID:23396983|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 10046704 CV189524 NM_001267550.2(TTN):c.76739C>A (p.Thr25580Lys) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23396983|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 10046704 CV189524 NM_001267550.2(TTN):c.76739C>A (p.Thr25580Lys) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:23396983|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 10046704 CV189524 NM_001267550.2(TTN):c.76739C>A (p.Thr25580Lys) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:23396983|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 10046705 CV189531 NM_001267550.2(TTN):c.74504A>G (p.Tyr24835Cys) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:28492532 10046706 CV189541 NM_001267550.2(TTN):c.71036G>A (p.Arg23679Lys) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:23861362|PMID:24033266|PMID:25556389|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29420653|PMID:29590070|PMID:31088516|PMID:37904629 10046706 CV189541 NM_001267550.2(TTN):c.71036G>A (p.Arg23679Lys) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Early-onset myopathy with fatal cardiomyopathy PMID:23861362|PMID:24033266|PMID:25556389|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29420653|PMID:29590070|PMID:31088516|PMID:37904629 10046706 CV189541 NM_001267550.2(TTN):c.71036G>A (p.Arg23679Lys) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10 PMID:23861362|PMID:24033266|PMID:25556389|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29420653|PMID:29590070|PMID:31088516|PMID:37904629 10046706 CV189541 NM_001267550.2(TTN):c.71036G>A (p.Arg23679Lys) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:24033266|PMID:25556389|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29420653|PMID:29590070|PMID:31088516|PMID:37904629 10046706 CV189541 NM_001267550.2(TTN):c.71036G>A (p.Arg23679Lys) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:23861362|PMID:24033266|PMID:25556389|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29420653|PMID:29590070|PMID:31088516|PMID:37904629 10046706 CV189541 NM_001267550.2(TTN):c.71036G>A (p.Arg23679Lys) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:23861362|PMID:24033266|PMID:25556389|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29420653|PMID:29590070|PMID:31088516|PMID:37904629 10046707 CV189578 NM_001267550.2(TTN):c.58576G>A (p.Val19526Ile) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:23861362|PMID:24033266|PMID:25448463|PMID:25741868|PMID:26498160|PMID:28492532 10046707 CV189578 NM_001267550.2(TTN):c.58576G>A (p.Val19526Ile) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Early-onset myopathy with fatal cardiomyopathy PMID:23861362|PMID:24033266|PMID:25448463|PMID:25741868|PMID:26498160|PMID:28492532 10046707 CV189578 NM_001267550.2(TTN):c.58576G>A (p.Val19526Ile) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:23861362|PMID:24033266|PMID:25448463|PMID:25741868|PMID:26498160|PMID:28492532 10046707 CV189578 NM_001267550.2(TTN):c.58576G>A (p.Val19526Ile) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:24033266|PMID:25448463|PMID:25741868|PMID:26498160|PMID:28492532 10046707 CV189578 NM_001267550.2(TTN):c.58576G>A (p.Val19526Ile) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:23861362|PMID:24033266|PMID:25448463|PMID:25741868|PMID:26498160|PMID:28492532 10046707 CV189578 NM_001267550.2(TTN):c.58576G>A (p.Val19526Ile) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:23861362|PMID:24033266|PMID:25448463|PMID:25741868|PMID:26498160|PMID:28492532 10046708 CV189580 NM_001267550.2(TTN):c.57808G>C (p.Val19270Leu) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046708 CV189580 NM_001267550.2(TTN):c.57808G>C (p.Val19270Leu) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10 PMID:23861362|PMID:25741868|PMID:28492532 10046708 CV189580 NM_001267550.2(TTN):c.57808G>C (p.Val19270Leu) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868|PMID:28492532 10046709 CV173874 NM_001267550.2(TTN):c.53122A>G (p.Lys17708Glu) variant DOID:0050431 arrhythmogenic right ventricular cardiomyopathy IAGP D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy PMID:23861362|PMID:25741868 10046709 CV173874 NM_001267550.2(TTN):c.53122A>G (p.Lys17708Glu) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868 10046710 CV189610 NM_001267550.2(TTN):c.44978G>A (p.Gly14993Glu) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868|PMID:28492532 10046712 CV189634 NM_001267550.2(TTN):c.37735G>A (p.Ala12579Thr) variant DOID:0110425 dilated cardiomyopathy 1A IAGP D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:23861362 10046713 CV189635 NM_001267550.2(TTN):c.37525G>A (p.Glu12509Lys) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, early-onset, with fatal cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046713 CV189635 NM_001267550.2(TTN):c.37525G>A (p.Glu12509Lys) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2J PMID:23861362|PMID:25741868|PMID:28492532 10046713 CV189635 NM_001267550.2(TTN):c.37525G>A (p.Glu12509Lys) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868|PMID:28492532 10046713 CV189635 NM_001267550.2(TTN):c.37525G>A (p.Glu12509Lys) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:23861362|PMID:25741868|PMID:28492532 10046713 CV189635 NM_001267550.2(TTN):c.37525G>A (p.Glu12509Lys) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:23861362|PMID:25741868|PMID:28492532 10046715 CV189639 NM_001267550.2(TTN):c.37247C>T (p.Ser12416Leu) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, early-onset, with fatal cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046715 CV189639 NM_001267550.2(TTN):c.37247C>T (p.Ser12416Leu) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2J PMID:23861362|PMID:25741868|PMID:28492532 10046715 CV189639 NM_001267550.2(TTN):c.37247C>T (p.Ser12416Leu) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868|PMID:28492532 10046715 CV189639 NM_001267550.2(TTN):c.37247C>T (p.Ser12416Leu) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:23861362|PMID:25741868|PMID:28492532 10046715 CV189639 NM_001267550.2(TTN):c.37247C>T (p.Ser12416Leu) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:23861362|PMID:25741868|PMID:28492532 10046716 CV189641 NM_001267550.2(TTN):c.36676A>G (p.Lys12226Glu) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, early-onset, with fatal cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046716 CV189641 NM_001267550.2(TTN):c.36676A>G (p.Lys12226Glu) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2J PMID:23861362|PMID:25741868|PMID:28492532 10046716 CV189641 NM_001267550.2(TTN):c.36676A>G (p.Lys12226Glu) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868|PMID:28492532 10046716 CV189641 NM_001267550.2(TTN):c.36676A>G (p.Lys12226Glu) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:23861362|PMID:25741868|PMID:28492532 10046716 CV189641 NM_001267550.2(TTN):c.36676A>G (p.Lys12226Glu) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:23861362|PMID:25741868|PMID:28492532 10046717 CV189643 NM_001267550.2(TTN):c.36509A>T (p.Glu12170Val) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, early-onset, with fatal cardiomyopathy PMID:23861362|PMID:25741868|PMID:26467025|PMID:28492532 10046717 CV189643 NM_001267550.2(TTN):c.36509A>T (p.Glu12170Val) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2J PMID:23861362|PMID:25741868|PMID:26467025|PMID:28492532 10046717 CV189643 NM_001267550.2(TTN):c.36509A>T (p.Glu12170Val) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868|PMID:26467025|PMID:28492532 10046717 CV189643 NM_001267550.2(TTN):c.36509A>T (p.Glu12170Val) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:23861362|PMID:25741868|PMID:26467025|PMID:28492532 10046717 CV189643 NM_001267550.2(TTN):c.36509A>T (p.Glu12170Val) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:23861362|PMID:25741868|PMID:26467025|PMID:28492532 10046719 CV189674 NM_001267550.2(TTN):c.25481G>A (p.Arg8494Gln) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 10046724 CV189770 NM_001267550.2(TTN):c.43G>A (p.Val15Ile) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 10046724 CV189770 NM_001267550.2(TTN):c.43G>A (p.Val15Ile) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Myopathy, early-onset, with fatal cardiomyopathy PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 10046724 CV189770 NM_001267550.2(TTN):c.43G>A (p.Val15Ile) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2J PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 10046724 CV189770 NM_001267550.2(TTN):c.43G>A (p.Val15Ile) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 10046724 CV189770 NM_001267550.2(TTN):c.43G>A (p.Val15Ile) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 10046724 CV189770 NM_001267550.2(TTN):c.43G>A (p.Val15Ile) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532 10046725 CV189870 NM_014000.3(VCL):c.2827C>G (p.Pro943Ala) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:15769782|PMID:16236538|PMID:23861362|PMID:25351510|PMID:25741868|PMID:28492532 10046725 CV189870 NM_014000.3(VCL):c.2827C>G (p.Pro943Ala) variant DOID:0110446 dilated cardiomyopathy 1W IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1W PMID:15769782|PMID:16236538|PMID:23861362|PMID:25351510|PMID:25741868|PMID:28492532 10046726 CV189992 NM_001943.5(DSG2):c.2568A>C (p.Lys856Asn) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868 10046727 CV189858 NM_032578.4(MYPN):c.3421G>A (p.Ala1141Thr) variant DOID:0110445 dilated cardiomyopathy 1KK IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: MYPN-related condition PMID:23861362|PMID:24033266|PMID:28492532 10046727 CV189858 NM_032578.4(MYPN):c.3421G>A (p.Ala1141Thr) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:24033266|PMID:28492532 10046728 CV190027 NM_000059.4(BRCA2):c.8087T>G (p.Leu2696Trp) variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:28492532 10046728 CV190027 NM_000059.4(BRCA2):c.8087T>G (p.Leu2696Trp) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532 10046729 CV190023 NM_000179.3(MSH6):c.4072A>G (p.Lys1358Glu) variant DOID:0070271 Lynch syndrome 1 IAGP D RGD:8554872 20190514 ClinVar ClinVar Annotator: match by term: Lynch syndrome I PMID:23621914|PMID:25741868 10046729 CV190023 NM_000179.3(MSH6):c.4072A>G (p.Lys1358Glu) variant DOID:2871 endometrial carcinoma IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:23621914|PMID:25741868 10046730 CV190025 NM_000535.7(PMS2):c.2182A>G (p.Thr728Ala) variant DOID:0070271 Lynch syndrome 1 IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1 PMID:25741868|PMID:26483394|PMID:28492532|PMID:29659569|PMID:29887214|PMID:30256826|PMID:30337059|PMID:31916644 10046730 CV190025 NM_000535.7(PMS2):c.2182A>G (p.Thr728Ala) variant DOID:1612 breast cancer IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:25741868|PMID:26483394|PMID:28492532|PMID:29659569|PMID:29887214|PMID:30256826|PMID:30337059|PMID:31916644 10046730 CV190025 NM_000535.7(PMS2):c.2182A>G (p.Thr728Ala) variant DOID:3883 Lynch syndrome IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Lynch syndrome PMID:25741868|PMID:26483394|PMID:28492532|PMID:29659569|PMID:29887214|PMID:30256826|PMID:30337059|PMID:31916644 10046730 CV190025 NM_000535.7(PMS2):c.2182A>G (p.Thr728Ala) variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer PMID:25741868|PMID:26483394|PMID:28492532|PMID:29659569|PMID:29887214|PMID:30256826|PMID:30337059|PMID:31916644 10046730 CV190025 NM_000535.7(PMS2):c.2182A>G (p.Thr728Ala) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:25741868|PMID:26483394|PMID:28492532|PMID:29659569|PMID:29887214|PMID:30256826|PMID:30337059|PMID:31916644 10046731 CV190033 NM_001349884.2(DRAM2):c.494G>A (p.Trp165Ter) variant DOID:0081447 cone-rod dystrophy 21 IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 21 PMID:25983245|PMID:28492532 10046731 CV190033 NM_001349884.2(DRAM2):c.494G>A (p.Trp165Ter) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25983245|PMID:28492532 10046732 CV190071 NM_199334.5(THRA):c.1176C>A (p.Cys392Ter) variant DOID:0070128 congenital nongoitrous hypothyroidism 6 IAGP D RGD:8554872 20180626 ClinVar ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 6 PMID:25670821 10046733 CV190072 NM_199334.5(THRA):c.1207G>A (p.Glu403Lys) variant DOID:0070128 congenital nongoitrous hypothyroidism 6 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Congenital nongoitrous hypothyroidism 6 PMID:25670821|PMID:25741868|PMID:26812777|PMID:28932413|PMID:32349464|PMID:33509032 10046734 CV190073 NM_199334.5(THRA):c.1193C>G (p.Pro398Arg) variant DOID:0070128 congenital nongoitrous hypothyroidism 6 IAGP D RGD:8554872 20180626 ClinVar ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 6 PMID:25670821 10046735 CV136392 NG_008939.1(PCCB):g.896_8947del variant DOID:14701 propionic acidemia IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Propionic acidemia 10046736 CV189217 NM_000335.5(SCN5A):c.1652C>T (p.Ala551Val) variant DOID:0050451 Brugada syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) PMID:19706159|PMID:25741868|PMID:25904541|PMID:28492532|PMID:31983221|PMID:37652022 10046736 CV189217 NM_000335.5(SCN5A):c.1652C>T (p.Ala551Val) variant DOID:0110218 Brugada syndrome 1 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Right bundle branch block, ST segment elevation, and sudden death syndrome PMID:19706159|PMID:25741868|PMID:25904541|PMID:28492532|PMID:31983221|PMID:37652022 10046736 CV189217 NM_000335.5(SCN5A):c.1652C>T (p.Ala551Val) variant DOID:0110433 dilated cardiomyopathy 1E IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH CONDUCTION DISORDER AND ARRHYTHMIA PMID:19706159|PMID:25741868|PMID:25904541|PMID:28492532|PMID:31983221|PMID:37652022 10046736 CV189217 NM_000335.5(SCN5A):c.1652C>T (p.Ala551Val) variant DOID:0110646 long QT syndrome 3 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Long QT syndrome 3 PMID:19706159|PMID:25741868|PMID:25904541|PMID:28492532|PMID:31983221|PMID:37652022 10046736 CV189217 NM_000335.5(SCN5A):c.1652C>T (p.Ala551Val) variant DOID:0111073 progressive familial heart block IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Hereditary bundle branch system defect PMID:19706159|PMID:25741868|PMID:25904541|PMID:28492532|PMID:31983221|PMID:37652022 10046736 CV189217 NM_000335.5(SCN5A):c.1652C>T (p.Ala551Val) variant DOID:0111074 progressive familial heart block type IA IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA PMID:19706159|PMID:25741868|PMID:25904541|PMID:28492532|PMID:31983221|PMID:37652022 10046736 CV189217 NM_000335.5(SCN5A):c.1652C>T (p.Ala551Val) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:19706159|PMID:25741868|PMID:25904541|PMID:28492532|PMID:31983221|PMID:37652022 10046736 CV189217 NM_000335.5(SCN5A):c.1652C>T (p.Ala551Val) variant DOID:9002919 Sudden Unexpected Nocturnal Death Syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome PMID:19706159|PMID:25741868|PMID:25904541|PMID:28492532|PMID:31983221|PMID:37652022 10046736 CV189217 NM_000335.5(SCN5A):c.1652C>T (p.Ala551Val) variant DOID:9003705 Sick Sinus Syndrome 1, Autosomal Recessive IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Sick sinus syndrome 1, autosomal recessive PMID:19706159|PMID:25741868|PMID:25904541|PMID:28492532|PMID:31983221|PMID:37652022 10046736 CV189217 NM_000335.5(SCN5A):c.1652C>T (p.Ala551Val) variant DOID:9007 sudden infant death syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Sudden Infant Death PMID:19706159|PMID:25741868|PMID:25904541|PMID:28492532|PMID:31983221|PMID:37652022 10046736 CV189217 NM_000335.5(SCN5A):c.1652C>T (p.Ala551Val) variant DOID:9008021 Familial Atrial Fibrillation 10 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 10 PMID:19706159|PMID:25741868|PMID:25904541|PMID:28492532|PMID:31983221|PMID:37652022 10046736 CV189217 NM_000335.5(SCN5A):c.1652C>T (p.Ala551Val) variant DOID:9008112 Ventricular Fibrillation, Paroxysmal Familial, 1 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation, paroxysmal familial, type 1 PMID:19706159|PMID:25741868|PMID:25904541|PMID:28492532|PMID:31983221|PMID:37652022 10046736 CV189217 NM_000335.5(SCN5A):c.1652C>T (p.Ala551Val) variant DOID:9009094 Progressive Familial Heart Block Type I IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Heart block progressive familial type 1 PMID:19706159|PMID:25741868|PMID:25904541|PMID:28492532|PMID:31983221|PMID:37652022 10046737 CV189253 NM_001148.6(ANK2):c.11683G>C (p.Val3895Leu) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:23861362 10046738 CV189213 NM_000335.5(SCN5A):c.4591G>T (p.Val1531Phe) variant DOID:0110646 long QT syndrome 3 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Long QT syndrome 3 PMID:19167345|PMID:19716085|PMID:23861362|PMID:25741868|PMID:25904541|PMID:26798387|PMID:28492532|PMID:28589536|PMID:29806494 10046738 CV189213 NM_000335.5(SCN5A):c.4591G>T (p.Val1531Phe) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:19167345|PMID:19716085|PMID:23861362|PMID:25741868|PMID:25904541|PMID:26798387|PMID:28492532|PMID:28589536|PMID:29806494 10046738 CV189213 NM_000335.5(SCN5A):c.4591G>T (p.Val1531Phe) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:19167345|PMID:19716085|PMID:23861362|PMID:25741868|PMID:25904541|PMID:26798387|PMID:28492532|PMID:28589536|PMID:29806494 10046739 CV189214 NM_000335.5(SCN5A):c.2423G>A (p.Arg808His) variant DOID:0110218 Brugada syndrome 1 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Brugada syndrome 1 PMID:19406494|PMID:23861362|PMID:25741868|PMID:28492532|PMID:33662488 10046739 CV189214 NM_000335.5(SCN5A):c.2423G>A (p.Arg808His) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:19406494|PMID:23861362|PMID:25741868|PMID:28492532|PMID:33662488 10046739 CV189214 NM_000335.5(SCN5A):c.2423G>A (p.Arg808His) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:19406494|PMID:23861362|PMID:25741868|PMID:28492532|PMID:33662488 10046740 CV189215 NM_000335.5(SCN5A):c.1940C>T (p.Ala647Val) variant DOID:0050451 Brugada syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:19841298|PMID:23861362|PMID:25741868 10046740 CV189215 NM_000335.5(SCN5A):c.1940C>T (p.Ala647Val) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:19841298|PMID:23861362|PMID:25741868 10046741 CV189373 NM_003098.3(SNTA1):c.770C>G (p.Ala257Gly) variant DOID:0110644 long QT syndrome 1 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 PMID:19684871|PMID:20009079|PMID:23861362|PMID:24319568|PMID:25650408|PMID:25741868|PMID:25956966|PMID:26159999|PMID:28492532|PMID:29343803|PMID:29714131 10046741 CV189373 NM_003098.3(SNTA1):c.770C>G (p.Ala257Gly) variant DOID:0110653 long QT syndrome 12 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: SNTA1-related condition PMID:19684871|PMID:20009079|PMID:23861362|PMID:24319568|PMID:25650408|PMID:25741868|PMID:25956966|PMID:26159999|PMID:28492532|PMID:29343803|PMID:29714131 10046741 CV189373 NM_003098.3(SNTA1):c.770C>G (p.Ala257Gly) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:19684871|PMID:20009079|PMID:23861362|PMID:24319568|PMID:25650408|PMID:25741868|PMID:25956966|PMID:26159999|PMID:28492532|PMID:29343803|PMID:29714131 10046742 CV190031 NM_004004.6(GJB2):c.24G>A (p.Thr8=) variant DOID:0050563 nonsyndromic deafness IAGP D RGD:8554872 20201015 ClinVar ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:23668481|PMID:24158611|PMID:28492532|PMID:30311386 10046742 CV190031 NM_004004.6(GJB2):c.24G>A (p.Thr8=) variant DOID:0110475 autosomal recessive nonsyndromic deafness 1A IAGP D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1A PMID:23668481|PMID:24158611|PMID:28492532|PMID:30311386 10046742 CV190031 NM_004004.6(GJB2):c.24G>A (p.Thr8=) variant DOID:630 genetic disease IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23668481|PMID:24158611|PMID:28492532|PMID:30311386 10046743 CV190032 NM_194292.3(SASS6):c.185T>C (p.Ile62Thr) variant DOID:0070279 primary autosomal recessive microcephaly 14 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary autosomal recessive microcephaly 14 PMID:24951542 10046744 CV190059 NM_054021.2(GPR101):c.1098C>A (p.Asp366Glu) variant DOID:0112007 growth hormone secreting pituitary adenoma 2 IAGP D RGD:8554872 20180508 ClinVar ClinVar Annotator: match by term: Pituitary adenoma, growth hormone-secreting, 2 PMID:25806920|PMID:26792934|PMID:27245663|PMID:29389097 10046745 CV190061 NM_004369.4(COL6A3):c.9128G>A (p.Arg3043His) variant DOID:0050663 Bethlem myopathy IAGP D RGD:8554872 20211109 ClinVar ClinVar Annotator: match by term: Collagen VI-related myopathy PMID:25741868|PMID:26004199|PMID:28492532 10046745 CV190061 NM_004369.4(COL6A3):c.9128G>A (p.Arg3043His) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20211109 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:25741868|PMID:26004199|PMID:28492532 10046745 CV190061 NM_004369.4(COL6A3):c.9128G>A (p.Arg3043His) variant DOID:0090050 dystonia 27 IAGP D RGD:8554872 20211109 ClinVar ClinVar Annotator: match by term: Dystonia 27 PMID:25741868|PMID:26004199|PMID:28492532 10046746 CV190062 NM_004369.4(COL6A3):c.9245C>G (p.Pro3082Arg) variant DOID:0050663 Bethlem myopathy IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Myopathy, benign congenital, with contractures PMID:25741868|PMID:26004199|PMID:26872670|PMID:28492532 10046746 CV190062 NM_004369.4(COL6A3):c.9245C>G (p.Pro3082Arg) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:25741868|PMID:26004199|PMID:26872670|PMID:28492532 10046746 CV190062 NM_004369.4(COL6A3):c.9245C>G (p.Pro3082Arg) variant DOID:0090050 dystonia 27 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Dystonia 27 PMID:25741868|PMID:26004199|PMID:26872670|PMID:28492532 10046747 CV190064 NM_004369.4(COL6A3):c.7502G>A (p.Arg2501His) variant DOID:0050663 Bethlem myopathy IAGP D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Collagen VI-related myopathy PMID:26004199|PMID:28492532 10046747 CV190064 NM_004369.4(COL6A3):c.7502G>A (p.Arg2501His) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26004199|PMID:28492532 10046747 CV190064 NM_004369.4(COL6A3):c.7502G>A (p.Arg2501His) variant DOID:0090050 dystonia 27 IAGP D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Dystonia 27 PMID:26004199|PMID:28492532 10046748 CV190063 NM_004369.4(COL6A3):c.8966-1G>C variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:25741868|PMID:26004199|PMID:28492532 10046748 CV190063 NM_004369.4(COL6A3):c.8966-1G>C variant DOID:0090050 dystonia 27 IAGP D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Dystonia 27 PMID:25741868|PMID:26004199|PMID:28492532 10046749 CV190087 NM_004992.4(MECP2):c.1A>T (p.Met1Leu) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Rett's disorder PMID:25741868 10046751 CV190086 NM_001110792.2(MECP2):c.414-42A>G variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Rett's disorder PMID:25741868 10046752 CV190082 NM_001110792.2(MECP2):c.1182_*452del (p.Leu394_Ter499delinsXaa) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Rett's disorder PMID:25741868 10046753 CV190084 NM_001110792.2(MECP2):c.685C>T (p.Pro229Ser) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Rett's disorder PMID:25741868 10046754 CV190085 NM_001110792.2(MECP2):c.426del (p.Ala143fs) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Rett's disorder PMID:25741868 10046755 CV190088 NM_194277.3(FRMD7):c.556A>G (p.Met186Val) variant DOID:0111790 congenital nystagmus 1 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Infantile nystagmus, X-linked PMID:25916882 10046756 CV190089 NM_020312.4(COQ9):c.521+1del variant DOID:0070242 primary coenzyme Q10 deficiency 5 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 5 PMID:26081641 10046757 CV190074 NM_001130698.2(TRPC3):c.2285G>A (p.Arg762His) variant DOID:0111744 cerebellar ataxia type 41 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 41 PMID:25477146|PMID:28492532 10046758 CV190079 NM_032790.4(ORAI1):c.261dup (p.Ala88Serfs) variant DOID:0111976 immunodeficiency 9 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Immune dysfunction with T-cell inactivation due to calcium entry defect 1 PMID:20004786|PMID:7798233 10046759 CV190080 NM_032790.4(ORAI1):c.308C>A (p.Ala103Glu) variant DOID:0111976 immunodeficiency 9 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Immune dysfunction with T-cell inactivation due to calcium entry defect 1 PMID:20004786|PMID:7531512 10046760 CV190091 NM_000512.5(GALNS):c.542A>G (p.Tyr181Cys) variant DOID:0111391 mucopolysaccharidosis IVA IAGP D RGD:8554872 20211109 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A PMID:25741868|PMID:26147980|PMID:26276046|PMID:34387910 10046761 CV190104 NM_000257.4(MYH7):c.1478T>A (p.Met493Lys) variant DOID:0110307 hypertrophic cardiomyopathy 1 IAGP D RGD:8554872 20180306 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 10046762 CV190105 NM_000257.4(MYH7):c.556G>C (p.Val186Leu) variant DOID:0110307 hypertrophic cardiomyopathy 1 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 PMID:16199542|PMID:25741868 10046763 CV190103 NM_000257.4(MYH7):c.2225C>A (p.Ala742Glu) variant DOID:0110307 hypertrophic cardiomyopathy 1 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 PMID:16199542 10046764 CV190101 NM_001276345.2(TNNT2):c.480C>A (p.Asn160Lys) variant DOID:0110307 hypertrophic cardiomyopathy 1 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 PMID:28492532|PMID:28790153 10046764 CV190101 NM_001276345.2(TNNT2):c.480C>A (p.Asn160Lys) variant DOID:0110308 hypertrophic cardiomyopathy 2 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 2 PMID:28492532|PMID:28790153 10046765 CV190102 NM_000257.4(MYH7):c.2578A>G (p.Lys860Glu) variant DOID:0110307 hypertrophic cardiomyopathy 1 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 PMID:27247418|PMID:28408708|PMID:28492532|PMID:28790153|PMID:32894683 10046765 CV190102 NM_000257.4(MYH7):c.2578A>G (p.Lys860Glu) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:27247418|PMID:28408708|PMID:28492532|PMID:28790153|PMID:32894683 10046766 CV187242 NM_030753.5(WNT3):c.271T>C (p.Cys91Arg) variant DOID:0080173 bladder exstrophy-epispadias-cloacal exstrophy complex IAGP D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Exstrophy-epispadias complex 10046767 CV187236 NM_006522.4(WNT6):c.570G>A (p.Arg190=) variant DOID:0080173 bladder exstrophy-epispadias-cloacal exstrophy complex IAGP D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Exstrophy-epispadias complex 10046768 CV187238 NM_004625.4(WNT7A):c.487G>A (p.Ala163Thr) variant DOID:0080173 bladder exstrophy-epispadias-cloacal exstrophy complex IAGP D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Exstrophy-epispadias complex 10046769 CV187237 NM_025216.3(WNT10A):c.487C>T (p.Arg163Trp) variant DOID:0080173 bladder exstrophy-epispadias-cloacal exstrophy complex IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex PMID:22581971|PMID:23401279|PMID:25741868|PMID:28492532|PMID:30426266 10046769 CV187237 NM_025216.3(WNT10A):c.487C>T (p.Arg163Trp) variant DOID:0111647 Schopf-Schulz-Passarge syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Schopf-Schulz-Passarge syndrome PMID:22581971|PMID:23401279|PMID:25741868|PMID:28492532|PMID:30426266 10046769 CV187237 NM_025216.3(WNT10A):c.487C>T (p.Arg163Trp) variant DOID:9008653 Selective Tooth Agenesis 4 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Tooth agenesis, selective, 4 PMID:22581971|PMID:23401279|PMID:25741868|PMID:28492532|PMID:30426266 10046769 CV187237 NM_025216.3(WNT10A):c.487C>T (p.Arg163Trp) variant DOID:9008686 Odontoonychodermal Dysplasia IAGP D RGD:8554872 20250729 ClinVar ClinVar Annotator: match by term: Odonto-onycho-dermal dysplasia PMID:22581971|PMID:23401279|PMID:25741868|PMID:28492532|PMID:30426266 10046770 CV187239 NM_004626.3(WNT11):c.947G>A (p.Arg316His) variant DOID:0080173 bladder exstrophy-epispadias-cloacal exstrophy complex IAGP D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Exstrophy-epispadias complex 10046771 CV187235 NM_003468.4(FZD5):c.267G>A (p.Met89Ile) variant DOID:0080173 bladder exstrophy-epispadias-cloacal exstrophy complex IAGP D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Exstrophy-epispadias complex 10046772 CV187240 NM_014045.5(LRP10):c.754G>A (p.Gly252Ser) variant DOID:0060041 autism spectrum disorder IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Autism spectrum disorders PMID:26076356 10046772 CV187240 NM_014045.5(LRP10):c.754G>A (p.Gly252Ser) variant DOID:0080173 bladder exstrophy-epispadias-cloacal exstrophy complex IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex PMID:26076356 10046772 CV187240 NM_014045.5(LRP10):c.754G>A (p.Gly252Ser) variant DOID:9003816 Macrocephaly IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Macrocephaly PMID:26076356 10046773 CV187241 NM_030753.5(WNT3):c.638G>A (p.Gly213Asp) variant DOID:0080173 bladder exstrophy-epispadias-cloacal exstrophy complex IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Exstrophy-epispadias complex 10046774 CV190081 NC_000012.12:g.121641318T>C variant DOID:0111976 immunodeficiency 9 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to ORAI1 deficiency PMID:20004786|PMID:27066545|PMID:28492532|PMID:29155098 10046775 CV190092 NM_000091.5(COL4A3):c.40_63del (p.Leu14_Leu21del) variant DOID:0110032 autosomal dominant Alport syndrome 3A IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: ALPORT SYNDROME 3A, AUTOSOMAL DOMINANT PMID:12028435|PMID:22887978|PMID:23927549|PMID:24633401|PMID:25741868|PMID:28492532|PMID:28570636 10046775 CV190092 NM_000091.5(COL4A3):c.40_63del (p.Leu14_Leu21del) variant DOID:0110033 autosomal recessive Alport syndrome IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Alport syndrome 3b, autosomal recessive PMID:12028435|PMID:22887978|PMID:23927549|PMID:24633401|PMID:25741868|PMID:28492532|PMID:28570636 10046775 CV190092 NM_000091.5(COL4A3):c.40_63del (p.Leu14_Leu21del) variant DOID:10983 Alport syndrome IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Congenital hereditary hematuria PMID:12028435|PMID:22887978|PMID:23927549|PMID:24633401|PMID:25741868|PMID:28492532|PMID:28570636 10046775 CV190092 NM_000091.5(COL4A3):c.40_63del (p.Leu14_Leu21del) variant DOID:630 genetic disease IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12028435|PMID:22887978|PMID:23927549|PMID:24633401|PMID:25741868|PMID:28492532|PMID:28570636 10046775 CV190092 NM_000091.5(COL4A3):c.40_63del (p.Leu14_Leu21del) variant DOID:9003097 Benign Familial Hematuria 2 IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Hematuria, benign familial, 2 PMID:12028435|PMID:22887978|PMID:23927549|PMID:24633401|PMID:25741868|PMID:28492532|PMID:28570636 10046776 CV190093 NM_004523.4(KIF11):c.1408G>T (p.Glu470Ter) variant DOID:0060349 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation PMID:25124931 10046777 CV190094 NM_004523.4(KIF11):c.790-1G>T variant DOID:0060349 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation PMID:16199547|PMID:22284827|PMID:24281367|PMID:25115524|PMID:25124931|PMID:27212378|PMID:28492532 10046778 CV190096 NM_004736.4(XPR1):c.434T>C (p.Leu145Pro) variant DOID:9005299 Idiopathic Basal Ganglia Calcification 6 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 6 PMID:25938945|PMID:886353 10046779 CV190097 NM_004736.4(XPR1):c.407G>A (p.Ser136Asn) variant DOID:9005299 Idiopathic Basal Ganglia Calcification 6 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 6 PMID:25938945 10046780 CV190098 NM_004736.4(XPR1):c.419T>C (p.Leu140Pro) variant DOID:9005299 Idiopathic Basal Ganglia Calcification 6 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 6 PMID:25938945 10046781 CV190099 NM_004736.4(XPR1):c.653T>C (p.Leu218Ser) variant DOID:9005299 Idiopathic Basal Ganglia Calcification 6 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 6 PMID:25938945 10046782 CV190108 NM_018942.3(HMX1):c.650A>C (p.Gln217Pro) variant DOID:0060482 oculoauricular syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Oculoauricular syndrome PMID:25574057 10046783 CV190109 NM_000535.7(PMS2):c.2002A>G (p.Ile668Val) variant DOID:0070271 Lynch syndrome 1 IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1 PMID:25691505|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30608896|PMID:33535600|PMID:34489406|PMID:36586540|PMID:36715493 10046783 CV190109 NM_000535.7(PMS2):c.2002A>G (p.Ile668Val) variant DOID:0070275 hereditary nonpolyposis colorectal cancer type 4 IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Lynch syndrome 4 PMID:25691505|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30608896|PMID:33535600|PMID:34489406|PMID:36586540|PMID:36715493 10046783 CV190109 NM_000535.7(PMS2):c.2002A>G (p.Ile668Val) variant DOID:3883 Lynch syndrome IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:25691505|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30608896|PMID:33535600|PMID:34489406|PMID:36586540|PMID:36715493 10046783 CV190109 NM_000535.7(PMS2):c.2002A>G (p.Ile668Val) variant DOID:9003685 Mismatch Repair Cancer Syndrome 4 IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Mismatch repair cancer syndrome 4 PMID:25691505|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30608896|PMID:33535600|PMID:34489406|PMID:36586540|PMID:36715493 10046783 CV190109 NM_000535.7(PMS2):c.2002A>G (p.Ile668Val) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25691505|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30608896|PMID:33535600|PMID:34489406|PMID:36586540|PMID:36715493 10046784 CV190110 NM_001330260.2(SCN8A):c.2952C>G (p.Asn984Lys) variant DOID:0080421 developmental and epileptic encephalopathy 11 IAGP D RGD:8554872 20240625 ClinVar ClinVar Annotator: match by term: Complex neurodevelopmental disorder PMID:25725044|PMID:25741868|PMID:32581362 10046784 CV190110 NM_001330260.2(SCN8A):c.2952C>G (p.Asn984Lys) variant DOID:0080445 developmental and epileptic encephalopathy 13 IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 13 PMID:25725044|PMID:25741868|PMID:32581362 10046784 CV190110 NM_001330260.2(SCN8A):c.2952C>G (p.Asn984Lys) variant DOID:9008086 Developmental Disabilities IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25725044|PMID:25741868|PMID:32581362 10046785 CV190111 NM_001330260.2(SCN8A):c.4351G>A (p.Gly1451Ser) variant DOID:0080421 developmental and epileptic encephalopathy 11 IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Complex neurodevelopmental disorder PMID:25725044|PMID:25741868|PMID:26467025|PMID:27165006|PMID:28492532|PMID:29100083|PMID:31026061|PMID:35627257|PMID:38250573 10046785 CV190111 NM_001330260.2(SCN8A):c.4351G>A (p.Gly1451Ser) variant DOID:0080445 developmental and epileptic encephalopathy 13 IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 13 PMID:25725044|PMID:25741868|PMID:26467025|PMID:27165006|PMID:28492532|PMID:29100083|PMID:31026061|PMID:35627257|PMID:38250573 10046785 CV190111 NM_001330260.2(SCN8A):c.4351G>A (p.Gly1451Ser) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:25725044|PMID:25741868|PMID:26467025|PMID:27165006|PMID:28492532|PMID:29100083|PMID:31026061|PMID:35627257|PMID:38250573 10046785 CV190111 NM_001330260.2(SCN8A):c.4351G>A (p.Gly1451Ser) variant DOID:630 genetic disease IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25725044|PMID:25741868|PMID:26467025|PMID:27165006|PMID:28492532|PMID:29100083|PMID:31026061|PMID:35627257|PMID:38250573 10046786 CV190114 NM_006158.5(NEFL):c.1261C>T (p.Arg421Ter) variant DOID:0110165 Charcot-Marie-Tooth disease type 2E IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2E PMID:19158810|PMID:20039262|PMID:25264603|PMID:25614874|PMID:25741868|PMID:28492532|PMID:32376792 10046786 CV190114 NM_006158.5(NEFL):c.1261C>T (p.Arg421Ter) variant DOID:10595 Charcot-Marie-Tooth disease IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:19158810|PMID:20039262|PMID:25264603|PMID:25614874|PMID:25741868|PMID:28492532|PMID:32376792 10046787 CV190115 NM_017649.5(CNNM2):c.364G>A (p.Glu122Lys) variant DOID:9005063 HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY 1 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Hypomagnesemia, seizures, and intellectual disability 1 PMID:24699222 10046788 CV190116 NM_017649.5(CNNM2):c.1069G>A (p.Glu357Lys) variant DOID:9005063 HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY 1 IAGP D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Hypomagnesemia, seizures, and intellectual disability 1 PMID:24699222 10046789 CV190117 NM_017649.5(CNNM2):c.806C>G (p.Ser269Trp) variant DOID:9005063 HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY 1 IAGP D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Hypomagnesemia, seizures, and intellectual disability 1 PMID:24699222|PMID:25741868 10046790 CV187273 NM_199261.4(TPTE):c.1357-3_1357-2del variant DOID:0060041 autism spectrum disorder IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Autism spectrum disorders PMID:26076356 10046794 CV190107 NM_002474.3(MYH11):c.*5C>G variant DOID:0112235 lissencephaly 4 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Lissencephaly 4 PMID:24033266|PMID:25741868 10046794 CV190107 NM_002474.3(MYH11):c.*5C>G variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and aortic dissections PMID:24033266|PMID:25741868 10046794 CV190107 NM_002474.3(MYH11):c.*5C>G variant DOID:9000664 Familial Thoracic Aortic Aneurysm 4 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus PMID:24033266|PMID:25741868 10046795 CV190112 NM_002528.7(NTHL1):c.244C>T (p.Gln82Ter) variant DOID:0080411 familial adenomatous polyposis 3 IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: NTHL1-related condition PMID:18515411|PMID:25741868|PMID:25938944|PMID:26431160|PMID:26467025|PMID:26553438|PMID:26559593|PMID:26649986|PMID:27713038|PMID:27720914|PMID:28492532|PMID:29909963|PMID:30248171|PMID:30753826|PMID:30859360|PMID:31227763|PMID:31285513|PMID:31645984|PMID:33193653|PMID:33454955 10046795 CV190112 NM_002528.7(NTHL1):c.244C>T (p.Gln82Ter) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:18515411|PMID:25741868|PMID:25938944|PMID:26431160|PMID:26467025|PMID:26553438|PMID:26559593|PMID:26649986|PMID:27713038|PMID:27720914|PMID:28492532|PMID:29909963|PMID:30248171|PMID:30753826|PMID:30859360|PMID:31227763|PMID:31285513|PMID:31645984|PMID:33193653|PMID:33454955 10046796 CV188757 NM_174934.4(SCN4B):c.235-18A>G variant DOID:0110651 long QT syndrome 10 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome 10 PMID:28492532 10046797 CV189348 NM_002234.4(KCNA5):c.633G>C (p.Glu211Asp) variant DOID:9001275 Familial Atrial Fibrillation 7 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: KCNA5-related condition PMID:20018952|PMID:21685056|PMID:23861362|PMID:24068186|PMID:25076992|PMID:28492532 10046797 CV189348 NM_002234.4(KCNA5):c.633G>C (p.Glu211Asp) variant DOID:9009117 primary pulmonary hypertension 1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 PMID:20018952|PMID:21685056|PMID:23861362|PMID:24068186|PMID:25076992|PMID:28492532 10046798 CV189882 NM_014391.3(ANKRD1):c.368C>T (p.Thr123Met) variant DOID:0110425 dilated cardiomyopathy 1A IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:19608031|PMID:23299917|PMID:23572067|PMID:23861362|PMID:24033266|PMID:25089522|PMID:25741868|PMID:27143260|PMID:28492532|PMID:28518168|PMID:28672880|PMID:31737537 10046798 CV189882 NM_014391.3(ANKRD1):c.368C>T (p.Thr123Met) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:19608031|PMID:23299917|PMID:23572067|PMID:23861362|PMID:24033266|PMID:25089522|PMID:25741868|PMID:27143260|PMID:28492532|PMID:28518168|PMID:28672880|PMID:31737537 10046798 CV189882 NM_014391.3(ANKRD1):c.368C>T (p.Thr123Met) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:19608031|PMID:23299917|PMID:23572067|PMID:23861362|PMID:24033266|PMID:25089522|PMID:25741868|PMID:27143260|PMID:28492532|PMID:28518168|PMID:28672880|PMID:31737537 10046799 CV189956 NM_000257.4(MYH7):c.2795T>C (p.Met932Thr) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:21302287|PMID:23861362|PMID:25741868|PMID:27532257|PMID:28002430|PMID:28492532 10046799 CV189956 NM_000257.4(MYH7):c.2795T>C (p.Met932Thr) variant DOID:0080326 familial hypertrophic cardiomyopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:21302287|PMID:23861362|PMID:25741868|PMID:27532257|PMID:28002430|PMID:28492532 10046799 CV189956 NM_000257.4(MYH7):c.2795T>C (p.Met932Thr) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:21302287|PMID:23861362|PMID:25741868|PMID:27532257|PMID:28002430|PMID:28492532 10046800 CV189420 NM_001267550.2(TTN):c.103921_103923del (p.Ser34641del) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:23861362|PMID:23975875|PMID:25589632|PMID:25741868|PMID:28492532 10046800 CV189420 NM_001267550.2(TTN):c.103921_103923del (p.Ser34641del) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:23975875|PMID:25589632|PMID:25741868|PMID:28492532 10046802 CV190036 NM_001349884.2(DRAM2):c.140del (p.Gly47fs) variant DOID:0081447 cone-rod dystrophy 21 IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 21 PMID:25983245 10046802 CV190036 NM_001349884.2(DRAM2):c.140del (p.Gly47fs) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25983245 10046803 CV190121 NM_020964.3(EPG5):c.1007A>G (p.Gln336Arg) variant DOID:0060356 Vici syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Vici syndrome PMID:23222957|PMID:25741868|PMID:26917586|PMID:27343256|PMID:28492532|PMID:31184778 10046804 CV190129 NM_005859.5(PURA):c.563T>C (p.Ile188Thr) variant DOID:0070061 autosomal dominant intellectual developmental disorder 31 IAGP D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:25741868|PMID:27148565|PMID:28492532 10046804 CV190129 NM_005859.5(PURA):c.563T>C (p.Ile188Thr) variant DOID:630 genetic disease IAGP D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:27148565|PMID:28492532 10046807 CV190122 NM_005859.5(PURA):c.1A>T (p.Met1Leu) variant DOID:0070061 autosomal dominant intellectual developmental disorder 31 IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532 10046810 CV190125 NM_005859.5(PURA):c.302_310del (p.Thr101_Ser103del) variant DOID:0070061 autosomal dominant intellectual developmental disorder 31 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:27148565 10046816 CV181483 NC_000023.10:g.(?_43479884)_(46741003_?)del variant DOID:9007875 Kabuki Syndrome 2 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 2 PMID:25972376 10046817 CV181484 NC_000023.10:g.(?_43479884)_(45501849_?)del variant DOID:9007875 Kabuki Syndrome 2 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 2 PMID:25972376 10046818 CV181481 NM_001291415.2(KDM6A):c.752G>A (p.Trp251Ter) variant DOID:9007875 Kabuki Syndrome 2 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 2 PMID:25972376 10046819 CV181482 NM_001291415.2(KDM6A):c.3892+2T>C variant DOID:9007875 Kabuki Syndrome 2 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 2 PMID:25972376 10046820 CV181477 NM_003482.4(KMT2D):c.12688C>T (p.Gln4230Ter) variant DOID:9001255 Kabuki Syndrome 1 IAGP D RGD:8554872 20191224 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25972376 10046821 CV181479 NM_003482.4(KMT2D):c.9961C>T (p.Arg3321Ter) variant DOID:0060473 Kabuki syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kabuki syndrome PMID:20711175|PMID:22126750|PMID:25972376|PMID:28492532 10046821 CV181479 NM_003482.4(KMT2D):c.9961C>T (p.Arg3321Ter) variant DOID:9001255 Kabuki Syndrome 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:20711175|PMID:22126750|PMID:25972376|PMID:28492532 10046822 CV181476 NM_003482.4(KMT2D):c.14659G>T (p.Glu4887Ter) variant DOID:9001255 Kabuki Syndrome 1 IAGP D RGD:8554872 20191224 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25972376 10046823 CV181474 NM_003482.4(KMT2D):c.15235_15238del (p.Asn5079fs) variant DOID:9001255 Kabuki Syndrome 1 IAGP D RGD:8554872 20191224 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25972376 10046824 CV181480 NM_003482.4(KMT2D):c.7481dup (p.Ala2496fs) variant DOID:9001255 Kabuki Syndrome 1 IAGP D RGD:8554872 20191224 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868|PMID:25972376 10046825 CV181473 NM_003482.4(KMT2D):c.16413-1G>C variant DOID:9001255 Kabuki Syndrome 1 IAGP D RGD:8554872 20191224 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25972376 10046826 CV181478 NM_003482.4(KMT2D):c.11796_11813del (p.Gln3934_Gln3939del) variant DOID:9001255 Kabuki Syndrome 1 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868|PMID:25972376 10046827 CV181475 NM_003482.4(KMT2D):c.14732C>T (p.Pro4911Leu) variant DOID:9001255 Kabuki Syndrome 1 IAGP D RGD:8554872 20191224 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25972376 10046828 CV189952 NM_000257.4(MYH7):c.4240C>A (p.Leu1414Met) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:18403758|PMID:25741868|PMID:28492532 10046831 CV190128 NM_005859.5(PURA):c.419G>C (p.Arg140Pro) variant DOID:0070061 autosomal dominant intellectual developmental disorder 31 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES PMID:28492532|PMID:29150892 10046832 CV190050 NM_001378969.1(KCND3):c.1348C>T (p.Leu450Phe) variant DOID:0050970 spinocerebellar ataxia 19/22 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 19/22 PMID:21349352|PMID:22840528|PMID:25741868|PMID:26016905|PMID:28492532|PMID:31130284|PMID:32709127|PMID:35932045 10046832 CV190050 NM_001378969.1(KCND3):c.1348C>T (p.Leu450Phe) variant DOID:0110226 Brugada syndrome 9 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Brugada syndrome 9 PMID:21349352|PMID:22840528|PMID:25741868|PMID:26016905|PMID:28492532|PMID:31130284|PMID:32709127|PMID:35932045 10046833 CV190051 NM_001378969.1(KCND3):c.1798G>A (p.Gly600Arg) variant DOID:0050970 spinocerebellar ataxia 19/22 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 19/22 PMID:21349352|PMID:22284586|PMID:22457051|PMID:22840528|PMID:23414114|PMID:25741868|PMID:26016905|PMID:26467025|PMID:28492532|PMID:29053796|PMID:30662450 10046833 CV190051 NM_001378969.1(KCND3):c.1798G>A (p.Gly600Arg) variant DOID:0110226 Brugada syndrome 9 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Brugada syndrome 9 PMID:21349352|PMID:22284586|PMID:22457051|PMID:22840528|PMID:23414114|PMID:25741868|PMID:26016905|PMID:26467025|PMID:28492532|PMID:29053796|PMID:30662450 10046834 CV187193 NM_000527.5(LDLR):c.313+2T>C variant DOID:0090105 autosomal recessive hypercholesterolemia IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Homozygous familial hypercholesterolemia PMID:11462246|PMID:12436241|PMID:14974088|PMID:15199436|PMID:16159606|PMID:16199547|PMID:16542394|PMID:19026292|PMID:20809525|PMID:21475731|PMID:22095935|PMID:22390909|PMID:24033266|PMID:25525159|PMID:25741868|PMID:26036859|PMID:27765764|PMID:27821657|PMID:28008010|PMID:28492532|PMID:28645073|PMID:31131953|PMID:31345425|PMID:31447099|PMID:32041611|PMID:32770674|PMID:33740630|PMID:34037665|PMID:34040191|PMID:37119068|PMID:7616128 10046834 CV187193 NM_000527.5(LDLR):c.313+2T>C variant DOID:13810 familial hypercholesterolemia IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:11462246|PMID:12436241|PMID:14974088|PMID:15199436|PMID:16159606|PMID:16199547|PMID:16542394|PMID:19026292|PMID:20809525|PMID:21475731|PMID:22095935|PMID:22390909|PMID:24033266|PMID:25525159|PMID:25741868|PMID:26036859|PMID:27765764|PMID:27821657|PMID:28008010|PMID:28492532|PMID:28645073|PMID:31131953|PMID:31345425|PMID:31447099|PMID:32041611|PMID:32770674|PMID:33740630|PMID:34037665|PMID:34040191|PMID:37119068|PMID:7616128 10046834 CV187193 NM_000527.5(LDLR):c.313+2T>C variant DOID:9005519 Hyperlipoproteinemia Type II IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia PMID:11462246|PMID:12436241|PMID:14974088|PMID:15199436|PMID:16159606|PMID:16199547|PMID:16542394|PMID:19026292|PMID:20809525|PMID:21475731|PMID:22095935|PMID:22390909|PMID:24033266|PMID:25525159|PMID:25741868|PMID:26036859|PMID:27765764|PMID:27821657|PMID:28008010|PMID:28492532|PMID:28645073|PMID:31131953|PMID:31345425|PMID:31447099|PMID:32041611|PMID:32770674|PMID:33740630|PMID:34037665|PMID:34040191|PMID:37119068|PMID:7616128 10046835 CV187194 NM_000527.5(LDLR):c.811G>A (p.Val271Ile) variant DOID:13810 familial hypercholesterolemia IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:25741868|PMID:26036859|PMID:28492532|PMID:29233637|PMID:30293936|PMID:33994402|PMID:34573395|PMID:35130036|PMID:36325061|PMID:36499307|PMID:37805670 10046835 CV187194 NM_000527.5(LDLR):c.811G>A (p.Val271Ile) variant DOID:9003370 Dyslipidemias IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Dyslipidemia PMID:25741868|PMID:26036859|PMID:28492532|PMID:29233637|PMID:30293936|PMID:33994402|PMID:34573395|PMID:35130036|PMID:36325061|PMID:36499307|PMID:37805670 10046835 CV187194 NM_000527.5(LDLR):c.811G>A (p.Val271Ile) variant DOID:9005519 Hyperlipoproteinemia Type II IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia PMID:25741868|PMID:26036859|PMID:28492532|PMID:29233637|PMID:30293936|PMID:33994402|PMID:34573395|PMID:35130036|PMID:36325061|PMID:36499307|PMID:37805670 10046836 CV187195 NM_000527.5(LDLR):c.828C>A (p.Cys276Ter) variant DOID:13810 familial hypercholesterolemia IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:10790219|PMID:15241806|PMID:17347910|PMID:20538126|PMID:20809525|PMID:21310417|PMID:22698793|PMID:25741868|PMID:26036859|PMID:26608663|PMID:28492532|PMID:28645073|PMID:32977124|PMID:34906454|PMID:9399845 10046837 CV187184 NM_000384.3(APOB):c.10037G>T (p.Ser3346Ile) variant DOID:0111062 familial hypobetalipoproteinemia 1 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Acanthocytosis with hypobetalipoproteinemia PMID:26036859|PMID:28492532 10046837 CV187184 NM_000384.3(APOB):c.10037G>T (p.Ser3346Ile) variant DOID:13809 familial combined hyperlipidemia IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb PMID:26036859|PMID:28492532 10046837 CV187184 NM_000384.3(APOB):c.10037G>T (p.Ser3346Ile) variant DOID:13810 familial hypercholesterolemia IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia PMID:26036859|PMID:28492532 10046837 CV187184 NM_000384.3(APOB):c.10037G>T (p.Ser3346Ile) variant DOID:9000699 Familial Hypercholesterolemia due to Ligand-Defective Apolipoprotein B IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LIGAND-DEFECTIVE APOLIPOPROTEIN B PMID:26036859|PMID:28492532 10046837 CV187184 NM_000384.3(APOB):c.10037G>T (p.Ser3346Ile) variant DOID:9005519 Hyperlipoproteinemia Type II IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B PMID:26036859|PMID:28492532 10046838 CV187185 NM_000384.3(APOB):c.7696G>A (p.Glu2566Lys) variant DOID:0111062 familial hypobetalipoproteinemia 1 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Familial hypobetalipoproteinemia 1 PMID:22095935|PMID:24033266|PMID:25741868|PMID:26036859|PMID:26415676|PMID:26467025|PMID:27765764|PMID:28492532 10046838 CV187185 NM_000384.3(APOB):c.7696G>A (p.Glu2566Lys) variant DOID:13809 familial combined hyperlipidemia IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb PMID:22095935|PMID:24033266|PMID:25741868|PMID:26036859|PMID:26415676|PMID:26467025|PMID:27765764|PMID:28492532 10046838 CV187185 NM_000384.3(APOB):c.7696G>A (p.Glu2566Lys) variant DOID:13810 familial hypercholesterolemia IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:22095935|PMID:24033266|PMID:25741868|PMID:26036859|PMID:26415676|PMID:26467025|PMID:27765764|PMID:28492532 10046838 CV187185 NM_000384.3(APOB):c.7696G>A (p.Glu2566Lys) variant DOID:9000699 Familial Hypercholesterolemia due to Ligand-Defective Apolipoprotein B IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LIGAND-DEFECTIVE APOLIPOPROTEIN B PMID:22095935|PMID:24033266|PMID:25741868|PMID:26036859|PMID:26415676|PMID:26467025|PMID:27765764|PMID:28492532 10046838 CV187185 NM_000384.3(APOB):c.7696G>A (p.Glu2566Lys) variant DOID:9005519 Hyperlipoproteinemia Type II IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B PMID:22095935|PMID:24033266|PMID:25741868|PMID:26036859|PMID:26415676|PMID:26467025|PMID:27765764|PMID:28492532 10046839 CV187186 NM_000384.3(APOB):c.7134C>A (p.Ser2378Arg) variant DOID:13810 familial hypercholesterolemia IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia PMID:26036859 10046841 CV187188 NM_000384.3(APOB):c.5654A>G (p.Tyr1885Cys) variant DOID:13810 familial hypercholesterolemia IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia PMID:26036859 10046842 CV187189 NM_000384.3(APOB):c.5066G>A (p.Arg1689His) variant DOID:0111062 familial hypobetalipoproteinemia 1 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Familial hypobetalipoproteinemia 1 PMID:20657596|PMID:25741868|PMID:26036859|PMID:26415676|PMID:26467025|PMID:27153395|PMID:27765764|PMID:28492532|PMID:30681615 10046842 CV187189 NM_000384.3(APOB):c.5066G>A (p.Arg1689His) variant DOID:13809 familial combined hyperlipidemia IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb PMID:20657596|PMID:25741868|PMID:26036859|PMID:26415676|PMID:26467025|PMID:27153395|PMID:27765764|PMID:28492532|PMID:30681615 10046842 CV187189 NM_000384.3(APOB):c.5066G>A (p.Arg1689His) variant DOID:13810 familial hypercholesterolemia IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:20657596|PMID:25741868|PMID:26036859|PMID:26415676|PMID:26467025|PMID:27153395|PMID:27765764|PMID:28492532|PMID:30681615 10046842 CV187189 NM_000384.3(APOB):c.5066G>A (p.Arg1689His) variant DOID:9000699 Familial Hypercholesterolemia due to Ligand-Defective Apolipoprotein B IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LIGAND-DEFECTIVE APOLIPOPROTEIN B PMID:20657596|PMID:25741868|PMID:26036859|PMID:26415676|PMID:26467025|PMID:27153395|PMID:27765764|PMID:28492532|PMID:30681615 10046842 CV187189 NM_000384.3(APOB):c.5066G>A (p.Arg1689His) variant DOID:9005519 Hyperlipoproteinemia Type II IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B PMID:20657596|PMID:25741868|PMID:26036859|PMID:26415676|PMID:26467025|PMID:27153395|PMID:27765764|PMID:28492532|PMID:30681615 10046843 CV187190 NM_000384.3(APOB):c.2585T>C (p.Val862Ala) variant DOID:0111062 familial hypobetalipoproteinemia 1 IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Acanthocytosis with hypobetalipoproteinemia PMID:26036859|PMID:28492532 10046843 CV187190 NM_000384.3(APOB):c.2585T>C (p.Val862Ala) variant DOID:13809 familial combined hyperlipidemia IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb PMID:26036859|PMID:28492532 10046843 CV187190 NM_000384.3(APOB):c.2585T>C (p.Val862Ala) variant DOID:13810 familial hypercholesterolemia IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:26036859|PMID:28492532 10046843 CV187190 NM_000384.3(APOB):c.2585T>C (p.Val862Ala) variant DOID:9000699 Familial Hypercholesterolemia due to Ligand-Defective Apolipoprotein B IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LIGAND-DEFECTIVE APOLIPOPROTEIN B PMID:26036859|PMID:28492532 10046843 CV187190 NM_000384.3(APOB):c.2585T>C (p.Val862Ala) variant DOID:9005519 Hyperlipoproteinemia Type II IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B PMID:26036859|PMID:28492532 10046844 CV187191 NM_000384.3(APOB):c.499C>T (p.Pro167Ser) variant DOID:0111062 familial hypobetalipoproteinemia 1 IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Familial hypobetalipoproteinemia 1 PMID:26036859|PMID:28492532 10046844 CV187191 NM_000384.3(APOB):c.499C>T (p.Pro167Ser) variant DOID:13809 familial combined hyperlipidemia IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb PMID:26036859|PMID:28492532 10046844 CV187191 NM_000384.3(APOB):c.499C>T (p.Pro167Ser) variant DOID:13810 familial hypercholesterolemia IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:26036859|PMID:28492532 10046844 CV187191 NM_000384.3(APOB):c.499C>T (p.Pro167Ser) variant DOID:9000699 Familial Hypercholesterolemia due to Ligand-Defective Apolipoprotein B IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LIGAND-DEFECTIVE APOLIPOPROTEIN B PMID:26036859|PMID:28492532 10046844 CV187191 NM_000384.3(APOB):c.499C>T (p.Pro167Ser) variant DOID:9005519 Hyperlipoproteinemia Type II IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B PMID:26036859|PMID:28492532 10046845 CV187182 NM_174936.4(PCSK9):c.449_450del (p.Phe150fs) variant DOID:13810 familial hypercholesterolemia IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia PMID:25741868|PMID:26036859 10046846 CV187183 NM_174936.4(PCSK9):c.610G>A (p.Asp204Asn) variant DOID:13810 familial hypercholesterolemia IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:25741868|PMID:26036859|PMID:27050191|PMID:28492532|PMID:29259136|PMID:32009526 10046846 CV187183 NM_174936.4(PCSK9):c.610G>A (p.Asp204Asn) variant DOID:9005308 Hypercholesterolemia, Autosomal Dominant, 3 IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, 3 PMID:25741868|PMID:26036859|PMID:27050191|PMID:28492532|PMID:29259136|PMID:32009526 10046847 CV187192 NM_012108.4(STAP1):c.139A>G (p.Thr47Ala) variant DOID:13810 familial hypercholesterolemia IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia PMID:26036859 10046848 CV190135 NM_198569.3(ADGRG6):c.19C>T (p.Arg7Ter) variant DOID:0080954 arthrogryposis multiplex congenita IAGP D RGD:8554872 20200407 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita PMID:26004201|PMID:26752647 10046848 CV190135 NM_198569.3(ADGRG6):c.19C>T (p.Arg7Ter) variant DOID:9001538 Lethal Congenital Contracture Syndrome 9 IAGP D RGD:8554872 20200407 ClinVar ClinVar Annotator: match by term: Lethal congenital contracture syndrome 9 PMID:26004201|PMID:26752647 10046849 CV190136 NM_198569.3(ADGRG6):c.2144dup (p.Gln716fs) variant DOID:0080954 arthrogryposis multiplex congenita IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita PMID:26004201 10046849 CV190136 NM_198569.3(ADGRG6):c.2144dup (p.Gln716fs) variant DOID:9001538 Lethal Congenital Contracture Syndrome 9 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Lethal congenital contracture syndrome 9 PMID:26004201 10046850 CV190137 NM_198569.3(ADGRG6):c.2306T>A (p.Val769Glu) variant DOID:0080954 arthrogryposis multiplex congenita IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Arthrogryposis multiplex congenita PMID:25741868|PMID:26004201 10046850 CV190137 NM_198569.3(ADGRG6):c.2306T>A (p.Val769Glu) variant DOID:9001538 Lethal Congenital Contracture Syndrome 9 IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Lethal congenital contracture syndrome 9 PMID:25741868|PMID:26004201 10046851 CV190138 NM_001372066.1(TFAP2A):c.655C>A (p.Arg219Ser) variant DOID:0050691 branchiooculofacial syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Branchiooculofacial syndrome PMID:25590586 10046852 CV190139 NM_001372066.1(TFAP2A):c.647T>A (p.Val216Asp) variant DOID:0050691 branchiooculofacial syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Branchiooculofacial syndrome PMID:25590586 10046855 CV190143 NM_001122630.2(CDKN1C):c.602del (p.Pro201fs) variant DOID:5572 Beckwith-Wiedemann syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome 10046857 CV190145 NM_001122630.2(CDKN1C):c.596_597insGCTCCGGCCCC (p.Ala200fs) variant DOID:5572 Beckwith-Wiedemann syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome 10046859 CV190146 NM_001122630.2(CDKN1C):c.416del (p.Pro139fs) variant DOID:5572 Beckwith-Wiedemann syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome PMID:25741868 10046860 CV152978 NM_001122630.2(CDKN1C):c.*5+2T>C variant DOID:5572 Beckwith-Wiedemann syndrome IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome 10046861 CV189179 NM_000159.4(GCDH):c.856C>T (p.Pro286Ser) variant DOID:0111254 glutaric acidemia I IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Glutaryl-CoA dehydrogenase deficiency 10046862 CV189178 NM_000159.4(GCDH):c.675G>A (p.Trp225Ter) variant DOID:0111254 glutaric acidemia I IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10699052|PMID:11854167|PMID:16602100|PMID:25741868|PMID:26071121|PMID:28492532 10046873 CV189209 NM_015141.4(GPD1L):c.805G>A (p.Gly269Arg) variant DOID:0050451 Brugada syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Brugada syndrome PMID:23861362|PMID:28492532 10046874 CV189256 NM_000238.4(KCNH2):c.3394C>G (p.Pro1132Ala) variant DOID:0110645 long QT syndrome 2 IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 PMID:23631430|PMID:23861362|PMID:25741868|PMID:28492532|PMID:31696929|PMID:34930020 10046874 CV189256 NM_000238.4(KCNH2):c.3394C>G (p.Pro1132Ala) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23631430|PMID:23861362|PMID:25741868|PMID:28492532|PMID:31696929|PMID:34930020 10046874 CV189256 NM_000238.4(KCNH2):c.3394C>G (p.Pro1132Ala) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:23631430|PMID:23861362|PMID:25741868|PMID:28492532|PMID:31696929|PMID:34930020 10046874 CV189256 NM_000238.4(KCNH2):c.3394C>G (p.Pro1132Ala) variant DOID:9005764 Short QT Syndrome 1 IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Short QT syndrome type 1 PMID:23631430|PMID:23861362|PMID:25741868|PMID:28492532|PMID:31696929|PMID:34930020 10046878 CV189212 NM_000335.5(SCN5A):c.5210C>T (p.Ser1737Phe) variant DOID:0111377 fetal akinesia deformation sequence syndrome 1 IAGP D RGD:8554872 20191210 ClinVar ClinVar Annotator: match by term: Fetal akinesia sequence PMID:23861362|PMID:25741868|PMID:28492532|PMID:31680123 10046878 CV189212 NM_000335.5(SCN5A):c.5210C>T (p.Ser1737Phe) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Arrhythmia PMID:23861362|PMID:25741868|PMID:28492532|PMID:31680123 10046879 CV189369 NM_003098.3(SNTA1):c.1498C>T (p.Arg500Cys) variant DOID:0110653 long QT syndrome 12 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome 12 PMID:23861362|PMID:25741868|PMID:26132555|PMID:28492532 10046879 CV189369 NM_003098.3(SNTA1):c.1498C>T (p.Arg500Cys) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:25741868|PMID:26132555|PMID:28492532 10046881 CV189893 NM_000432.4(MYL2):c.431del (p.Pro144fs) variant DOID:0051044 infantile-onset myofibrillar myopathy 12 with cardiomyopathy IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY PMID:23365102|PMID:23861362|PMID:25741868|PMID:28492532|PMID:28855170 10046881 CV189893 NM_000432.4(MYL2):c.431del (p.Pro144fs) variant DOID:0110316 hypertrophic cardiomyopathy 10 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 10 PMID:23365102|PMID:23861362|PMID:25741868|PMID:28492532|PMID:28855170 10046881 CV189893 NM_000432.4(MYL2):c.431del (p.Pro144fs) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23365102|PMID:23861362|PMID:25741868|PMID:28492532|PMID:28855170 10046882 CV189658 NM_001267550.2(TTN):c.33094+1G>A variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868 10046886 CV189194 NM_001035.3(RYR2):c.5657dup (p.Lys1887fs) variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 PMID:25741868 10046886 CV189194 NM_001035.3(RYR2):c.5657dup (p.Lys1887fs) variant DOID:9007215 Familial Ventricular Tachycardia IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia, polymorphic PMID:25741868 10046887 CV189224 NM_001148.6(ANK2):c.2474C>T (p.Thr825Ile) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:26132555 10046889 CV189317 NM_201596.3(CACNB2):c.1206+4_1206+7dup variant DOID:0110221 Brugada syndrome 4 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Brugada syndrome 4 PMID:23861362|PMID:28492532 10046889 CV189317 NM_201596.3(CACNB2):c.1206+4_1206+7dup variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:28492532 10046889 CV189317 NM_201596.3(CACNB2):c.1206+4_1206+7dup variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:23861362|PMID:28492532 10046893 CV189913 NM_001005242.3(PKP2):c.983dup (p.Ser329fs) variant DOID:0050431 arrhythmogenic right ventricular cardiomyopathy IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy PMID:15489853|PMID:17041889|PMID:23861362|PMID:23911551|PMID:28492532 10046893 CV189913 NM_001005242.3(PKP2):c.983dup (p.Ser329fs) variant DOID:0110077 arrhythmogenic right ventricular dysplasia 9 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 PMID:15489853|PMID:17041889|PMID:23861362|PMID:23911551|PMID:28492532 10046894 CV189807 NM_001105206.3(LAMA4):c.195+71_195+73del variant DOID:0110438 dilated cardiomyopathy 1JJ IAGP D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1JJ PMID:23861362|PMID:25741868 10046898 CV189954 NM_000257.4(MYH7):c.3442G>A (p.Glu1148Lys) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868 10046899 CV190011 NM_033118.4(MYLK2):c.116C>T (p.Pro39Leu) variant DOID:0110307 hypertrophic cardiomyopathy 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 PMID:23861362|PMID:25741868|PMID:28492532 10046902 CV189856 NM_032578.4(MYPN):c.2981T>C (p.Met994Thr) variant DOID:0110445 dilated cardiomyopathy 1KK IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1KK PMID:23861362|PMID:28492532 10046903 CV189398 NM_001103.4(ACTN2):c.1532T>C (p.Leu511Pro) variant DOID:0080326 familial hypertrophic cardiomyopathy IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy PMID:23861362|PMID:25741868|PMID:28492532 10046903 CV189398 NM_001103.4(ACTN2):c.1532T>C (p.Leu511Pro) variant DOID:0110307 hypertrophic cardiomyopathy 1 IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:23861362|PMID:25741868|PMID:28492532 10046903 CV189398 NM_001103.4(ACTN2):c.1532T>C (p.Leu511Pro) variant DOID:0110428 dilated cardiomyopathy 1AA IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1AA PMID:23861362|PMID:25741868|PMID:28492532 10046904 CV189787 NM_000337.6(SGCD):c.268T>A (p.Tyr90Asn) variant DOID:0110280 autosomal recessive limb-girdle muscular dystrophy type 2F IAGP D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2F PMID:23861362|PMID:25741868|PMID:28492532 10046904 CV189787 NM_000337.6(SGCD):c.268T>A (p.Tyr90Asn) variant DOID:0110436 dilated cardiomyopathy 1L IAGP D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1L PMID:23861362|PMID:25741868|PMID:28492532 10046905 CV189966 NM_003673.4(TCAP):c.401C>A (p.Ala134Asp) variant DOID:0110281 autosomal recessive limb-girdle muscular dystrophy type 2G IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2G PMID:23861362|PMID:25741868|PMID:28492532 10046905 CV189966 NM_003673.4(TCAP):c.401C>A (p.Ala134Asp) variant DOID:0110328 hypertrophic cardiomyopathy 25 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:23861362|PMID:25741868|PMID:28492532 10046907 CV189839 NM_004281.4(BAG3):c.1100C>G (p.Pro367Arg) variant DOID:0080097 myofibrillar myopathy 6 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 6 PMID:23861362|PMID:25741868|PMID:28492532 10046912 CV189427 NM_001267550.2(TTN):c.102325G>A (p.Ala34109Thr) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:23975875|PMID:25589632|PMID:28492532 10046922 CV189480 NM_001267550.2(TTN):c.88787C>G (p.Thr29596Ser) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Salih Myopathy PMID:23861362|PMID:25741868|PMID:26467025 10046922 CV189480 NM_001267550.2(TTN):c.88787C>G (p.Thr29596Ser) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10 PMID:23861362|PMID:25741868|PMID:26467025 10046922 CV189480 NM_001267550.2(TTN):c.88787C>G (p.Thr29596Ser) variant DOID:0110315 hypertrophic cardiomyopathy 9 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 9 PMID:23861362|PMID:25741868|PMID:26467025 10046922 CV189480 NM_001267550.2(TTN):c.88787C>G (p.Thr29596Ser) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868|PMID:26467025 10046922 CV189480 NM_001267550.2(TTN):c.88787C>G (p.Thr29596Ser) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Udd Distal Myopathy PMID:23861362|PMID:25741868|PMID:26467025 10046922 CV189480 NM_001267550.2(TTN):c.88787C>G (p.Thr29596Ser) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant PMID:23861362|PMID:25741868|PMID:26467025 10046932 CV189520 NM_001267550.2(TTN):c.78021G>A (p.Met26007Ile) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868 10046936 CV189536 NM_001267550.2(TTN):c.72713C>T (p.Ser24238Leu) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868|PMID:28492532 10046938 CV189538 NM_001267550.2(TTN):c.72180A>G (p.Thr24060=) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:28492532 10046940 CV189985 NM_001943.5(DSG2):c.86T>C (p.Leu29Ser) variant DOID:0110081 arrhythmogenic right ventricular dysplasia 10 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 10 PMID:23861362|PMID:28492532 10046942 CV189828 NM_004415.4(DSP):c.5014C>G (p.Gln1672Glu) variant DOID:0070554 palmoplantar keratoderma and woolly hair IAGP D RGD:8554872 20230620 ClinVar ClinVar Annotator: match by term: Skin fragility woolly hair syndrome PMID:23861362|PMID:25741868|PMID:28492532 10046942 CV189828 NM_004415.4(DSP):c.5014C>G (p.Gln1672Glu) variant DOID:0081109 keratosis palmoplantaris striata 2 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Keratosis palmoplantaris striata II PMID:23861362|PMID:25741868|PMID:28492532 10046942 CV189828 NM_004415.4(DSP):c.5014C>G (p.Gln1672Glu) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Carvajal syndrome PMID:23861362|PMID:25741868|PMID:28492532 10046942 CV189828 NM_004415.4(DSP):c.5014C>G (p.Gln1672Glu) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 8 PMID:23861362|PMID:25741868|PMID:28492532 10046942 CV189828 NM_004415.4(DSP):c.5014C>G (p.Gln1672Glu) variant DOID:9002630 Epidermolysis Bullosa, Lethal Acantholytic IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lethal acantholytic epidermolysis bullosa PMID:23861362|PMID:25741868|PMID:28492532 10046942 CV189828 NM_004415.4(DSP):c.5014C>G (p.Gln1672Glu) variant DOID:9004026 Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis PMID:23861362|PMID:25741868|PMID:28492532 10046944 CV189968 NM_002230.4(JUP):c.1324A>T (p.Ile442Phe) variant DOID:0080551 Naxos disease IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Naxos disease PMID:23396983|PMID:23861362|PMID:25351510|PMID:28341588|PMID:28492532 10046944 CV189968 NM_002230.4(JUP):c.1324A>T (p.Ile442Phe) variant DOID:0110083 arrhythmogenic right ventricular dysplasia 12 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12 PMID:23396983|PMID:23861362|PMID:25351510|PMID:28341588|PMID:28492532 10046945 CV189969 NM_002230.4(JUP):c.1172G>A (p.Ser391Asn) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046945 CV189969 NM_002230.4(JUP):c.1172G>A (p.Ser391Asn) variant DOID:0080551 Naxos disease IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Naxos disease PMID:23861362|PMID:25741868|PMID:28492532 10046945 CV189969 NM_002230.4(JUP):c.1172G>A (p.Ser391Asn) variant DOID:0110083 arrhythmogenic right ventricular dysplasia 12 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12 PMID:23861362|PMID:25741868|PMID:28492532 10046946 CV189971 NM_002230.4(JUP):c.746C>T (p.Thr249Met) variant DOID:0080551 Naxos disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Naxos disease PMID:23861362|PMID:25741868|PMID:27157848|PMID:28492532|PMID:30847666|PMID:32880476 10046946 CV189971 NM_002230.4(JUP):c.746C>T (p.Thr249Met) variant DOID:0110083 arrhythmogenic right ventricular dysplasia 12 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 12 PMID:23861362|PMID:25741868|PMID:27157848|PMID:28492532|PMID:30847666|PMID:32880476 10046947 CV189972 NM_002230.4(JUP):c.526C>T (p.Arg176Trp) variant DOID:0080326 familial hypertrophic cardiomyopathy IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:21859740|PMID:23861362|PMID:25741868|PMID:27662471|PMID:27930701|PMID:28492532|PMID:28831623|PMID:38254962 10046947 CV189972 NM_002230.4(JUP):c.526C>T (p.Arg176Trp) variant DOID:0080551 Naxos disease IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Naxos disease PMID:21859740|PMID:23861362|PMID:25741868|PMID:27662471|PMID:27930701|PMID:28492532|PMID:28831623|PMID:38254962 10046947 CV189972 NM_002230.4(JUP):c.526C>T (p.Arg176Trp) variant DOID:0110083 arrhythmogenic right ventricular dysplasia 12 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 12 PMID:21859740|PMID:23861362|PMID:25741868|PMID:27662471|PMID:27930701|PMID:28492532|PMID:28831623|PMID:38254962 10046947 CV189972 NM_002230.4(JUP):c.526C>T (p.Arg176Trp) variant DOID:0110307 hypertrophic cardiomyopathy 1 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:21859740|PMID:23861362|PMID:25741868|PMID:27662471|PMID:27930701|PMID:28492532|PMID:28831623|PMID:38254962 10046947 CV189972 NM_002230.4(JUP):c.526C>T (p.Arg176Trp) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:21859740|PMID:23861362|PMID:25741868|PMID:27662471|PMID:27930701|PMID:28492532|PMID:28831623|PMID:38254962 10046948 CV189973 NM_002230.4(JUP):c.352G>A (p.Glu118Lys) variant DOID:0080551 Naxos disease IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Naxos disease PMID:23861362|PMID:25741868|PMID:28492532 10046948 CV189973 NM_002230.4(JUP):c.352G>A (p.Glu118Lys) variant DOID:0110083 arrhythmogenic right ventricular dysplasia 12 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 12 PMID:23861362|PMID:25741868|PMID:28492532 10046948 CV189973 NM_002230.4(JUP):c.352G>A (p.Glu118Lys) variant DOID:9004616 Left Ventricular Hypertrophy IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Left ventricular hypertrophy PMID:23861362|PMID:25741868|PMID:28492532 10046949 CV189974 NM_002230.4(JUP):c.335A>G (p.Asn112Ser) variant DOID:0080551 Naxos disease IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Naxos disease PMID:23861362|PMID:28492532 10046949 CV189974 NM_002230.4(JUP):c.335A>G (p.Asn112Ser) variant DOID:0110083 arrhythmogenic right ventricular dysplasia 12 IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12 PMID:23861362|PMID:28492532 10046950 CV189788 NM_001105206.3(LAMA4):c.5437G>A (p.Gly1813Ser) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10046950 CV189788 NM_001105206.3(LAMA4):c.5437G>A (p.Gly1813Ser) variant DOID:0110438 dilated cardiomyopathy 1JJ IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1JJ PMID:23861362|PMID:25741868|PMID:28492532 10046951 CV189789 NM_001105206.3(LAMA4):c.5369C>T (p.Thr1790Ile) variant DOID:0110438 dilated cardiomyopathy 1JJ IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1JJ PMID:23861362|PMID:28492532 10046952 CV189791 NM_001105206.3(LAMA4):c.4328C>T (p.Ala1443Val) variant DOID:0110438 dilated cardiomyopathy 1JJ IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1JJ PMID:23861362|PMID:25741868|PMID:28492532 10046953 CV189792 NM_001105206.3(LAMA4):c.3585T>A (p.Asp1195Glu) variant DOID:0110438 dilated cardiomyopathy 1JJ IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1JJ PMID:23861362|PMID:28492532 10046956 CV189797 NM_001105206.3(LAMA4):c.2912C>T (p.Ser971Phe) variant DOID:0110438 dilated cardiomyopathy 1JJ IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1JJ PMID:23861362|PMID:28492532 10046958 CV189800 NM_001105206.3(LAMA4):c.1858G>A (p.Ala620Thr) variant DOID:0110438 dilated cardiomyopathy 1JJ IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1JJ PMID:23861362|PMID:25741868|PMID:28492532 10046959 CV189891 NM_000256.3(MYBPC3):c.419C>T (p.Ala140Val) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:28492532 10046969 CV189572 NM_001267550.2(TTN):c.61825C>T (p.Arg20609Cys) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868|PMID:26467025 10046972 CV189609 NM_001267550.2(TTN):c.45044T>A (p.Val15015Glu) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868 10046979 CV189640 NM_001267550.2(TTN):c.36737A>T (p.Glu12246Val) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868|PMID:28492532 10046986 CV189678 NM_001267550.2(TTN):c.23686G>A (p.Glu7896Lys) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868 10046988 CV189681 NM_001267550.2(TTN):c.21378A>C (p.Glu7126Asp) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:28492532 10046989 CV189682 NM_001267550.2(TTN):c.21172G>C (p.Gly7058Arg) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:25741868 10046998 CV189798 NM_001105206.3(LAMA4):c.2398C>T (p.Arg800Cys) variant DOID:0110438 dilated cardiomyopathy 1JJ IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1JJ PMID:23861362|PMID:28492532|PMID:30847666 10046998 CV189798 NM_001105206.3(LAMA4):c.2398C>T (p.Arg800Cys) variant DOID:384 Wolff-Parkinson-White syndrome IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:23861362|PMID:28492532|PMID:30847666 10046999 CV189801 NM_001105206.3(LAMA4):c.1277T>C (p.Met426Thr) variant DOID:0080326 familial hypertrophic cardiomyopathy IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532|PMID:30086531|PMID:30700137|PMID:31983221 10046999 CV189801 NM_001105206.3(LAMA4):c.1277T>C (p.Met426Thr) variant DOID:0110307 hypertrophic cardiomyopathy 1 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:23861362|PMID:25741868|PMID:28492532|PMID:30086531|PMID:30700137|PMID:31983221 10046999 CV189801 NM_001105206.3(LAMA4):c.1277T>C (p.Met426Thr) variant DOID:0110438 dilated cardiomyopathy 1JJ IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1JJ PMID:23861362|PMID:25741868|PMID:28492532|PMID:30086531|PMID:30700137|PMID:31983221 10047000 CV189805 NM_001105206.3(LAMA4):c.668G>A (p.Arg223His) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:23861362|PMID:25741868|PMID:28492532|PMID:28798025 10047000 CV189805 NM_001105206.3(LAMA4):c.668G>A (p.Arg223His) variant DOID:0110438 dilated cardiomyopathy 1JJ IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1JJ PMID:23861362|PMID:25741868|PMID:28492532|PMID:28798025 10047016 CV189878 NM_007078.3(LDB3):c.1325C>T (p.Ala442Val) variant DOID:0080095 myofibrillar myopathy 4 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 4 PMID:23861362|PMID:28492532 10047018 CV189957 NM_000257.4(MYH7):c.1301G>A (p.Arg434Lys) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:25741868|PMID:28492532 10047028 CV189549 NM_001267550.2(TTN):c.69144A>G (p.Glu23048=) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10 PMID:23861362|PMID:28492532 10047028 CV189549 NM_001267550.2(TTN):c.69144A>G (p.Glu23048=) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23861362|PMID:28492532 10047034 CV190030 NM_000455.5(STK11):c.844dup (p.Leu282fs) variant DOID:3852 Peutz-Jeghers syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Peutz-Jeghers syndrome PMID:10874301|PMID:15188174|PMID:16110486|PMID:25741868 10047035 CV166181 NM_002474.3(MYH11):c.3598A>T (p.Lys1200Ter) variant DOID:0060610 megacystis-microcolon-intestinal hypoperistalsis syndrome IAGP D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Pseudoobstruction idiopathic intestinal PMID:25407000 10047035 CV166181 NM_002474.3(MYH11):c.3598A>T (p.Lys1200Ter) variant DOID:0080072 intestinal pseudo-obstruction IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Visceral myopathy PMID:25407000 10047035 CV166181 NM_002474.3(MYH11):c.3598A>T (p.Lys1200Ter) variant DOID:9001104 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2 PMID:25407000 10047037 CV190038 NM_001349884.2(DRAM2):c.79T>C (p.Tyr27His) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25983245 10047038 CV190035 NM_001349884.2(DRAM2):c.217_225del (p.Val73_Tyr75del) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25983245 10047039 CV190034 NM_001349884.2(DRAM2):c.362A>T (p.His121Leu) variant DOID:0081447 cone-rod dystrophy 21 IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 21 PMID:25983245 10047039 CV190034 NM_001349884.2(DRAM2):c.362A>T (p.His121Leu) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25983245 10047040 CV190037 NM_001349884.2(DRAM2):c.131G>A (p.Ser44Asn) variant DOID:0081447 cone-rod dystrophy 21 IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 21 PMID:25983245 10047040 CV190037 NM_001349884.2(DRAM2):c.131G>A (p.Ser44Asn) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25983245 10047041 CV190048 NM_001958.5(EEF1A2):c.754G>C (p.Asp252His) variant DOID:0070068 autosomal dominant intellectual developmental disorder 38 IAGP D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Mental retardation, autosomal dominant 38 PMID:24697219 10047041 CV190048 NM_001958.5(EEF1A2):c.754G>C (p.Asp252His) variant DOID:0080463 developmental and epileptic encephalopathy 33 IAGP D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24697219 10047042 CV190049 NM_001958.5(EEF1A2):c.364G>A (p.Glu122Lys) variant DOID:0070068 autosomal dominant intellectual developmental disorder 38 IAGP D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Mental retardation, autosomal dominant 38 PMID:24697219|PMID:25741868|PMID:26682508|PMID:27441201|PMID:28492532|PMID:3066688 10047042 CV190049 NM_001958.5(EEF1A2):c.364G>A (p.Glu122Lys) variant DOID:0080463 developmental and epileptic encephalopathy 33 IAGP D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 33 PMID:24697219|PMID:25741868|PMID:26682508|PMID:27441201|PMID:28492532|PMID:3066688 10047042 CV190049 NM_001958.5(EEF1A2):c.364G>A (p.Glu122Lys) variant DOID:630 genetic disease IAGP D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24697219|PMID:25741868|PMID:26682508|PMID:27441201|PMID:28492532|PMID:3066688 10047043 CV190052 NM_001378969.1(KCND3):c.1174G>A (p.Val392Ile) variant DOID:0050970 spinocerebellar ataxia 19/22 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 19/22 PMID:22457051|PMID:25741868|PMID:28492532|PMID:30776697|PMID:32921676 10047043 CV190052 NM_001378969.1(KCND3):c.1174G>A (p.Val392Ile) variant DOID:0110226 Brugada syndrome 9 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Brugada syndrome 9 PMID:22457051|PMID:25741868|PMID:28492532|PMID:30776697|PMID:32921676 10047044 CV190053 NM_145068.4(TRPV3):c.2017C>T (p.Leu673Phe) variant DOID:0111708 focal nonepidermolytic palmoplantar keratoderma IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Isolated focal non-epidermolytic palmoplantar keratoderma PMID:24452206|PMID:25741868|PMID:28492532|PMID:28587736|PMID:32795529 10047044 CV190053 NM_145068.4(TRPV3):c.2017C>T (p.Leu673Phe) variant DOID:0112013 autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Olmsted syndrome 1 PMID:24452206|PMID:25741868|PMID:28492532|PMID:28587736|PMID:32795529 10047045 CV190054 NM_145068.4(TRPV3):c.1739A>C (p.Gln580Pro) variant DOID:0111708 focal nonepidermolytic palmoplantar keratoderma IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Isolated focal non-epidermolytic palmoplantar keratoderma PMID:25285920 10047046 CV190060 NM_004369.4(COL6A3):c.7660G>A (p.Ala2554Thr) variant DOID:0060946 Ullrich congenital muscular dystrophy 1A IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1A PMID:25741868|PMID:26004199|PMID:28492532 10047046 CV190060 NM_004369.4(COL6A3):c.7660G>A (p.Ala2554Thr) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1A PMID:25741868|PMID:26004199|PMID:28492532 10047046 CV190060 NM_004369.4(COL6A3):c.7660G>A (p.Ala2554Thr) variant DOID:0090050 dystonia 27 IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Dystonia 27 PMID:25741868|PMID:26004199|PMID:28492532 10047422 CV136597 NM_001122630.2(CDKN1C):c.300dup (p.Ala101fs) variant DOID:5572 Beckwith-Wiedemann syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome 10047423 CV136599 NM_001122630.2(CDKN1C):c.367dup (p.Glu123fs) variant DOID:5572 Beckwith-Wiedemann syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome 10047424 CV190151 NM_001122630.2(CDKN1C):c.803G>T (p.Arg268Leu) variant DOID:0050885 IMAGe syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: IMAGe syndrome PMID:24065356|PMID:24624461|PMID:28492532|PMID:31976094|PMID:33076988 10047424 CV190151 NM_001122630.2(CDKN1C):c.803G>T (p.Arg268Leu) variant DOID:5572 Beckwith-Wiedemann syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome PMID:24065356|PMID:24624461|PMID:28492532|PMID:31976094|PMID:33076988 10047424 CV190151 NM_001122630.2(CDKN1C):c.803G>T (p.Arg268Leu) variant DOID:9007070 Silver-Russell Syndrome 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Silver-Russell syndrome 1 PMID:24065356|PMID:24624461|PMID:28492532|PMID:31976094|PMID:33076988 10047426 CV190155 NM_003042.4(SLC6A1):c.131G>A (p.Arg44Gln) variant DOID:0060475 myoclonic-atonic epilepsy IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Myoclonic-atonic epilepsy PMID:25865495|PMID:27959697|PMID:28191889|PMID:28492532|PMID:34006619 10047426 CV190155 NM_003042.4(SLC6A1):c.131G>A (p.Arg44Gln) variant DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal dominant epilepsy PMID:25865495|PMID:27959697|PMID:28191889|PMID:28492532|PMID:34006619 10047427 CV190156 NM_003042.4(SLC6A1):c.889G>A (p.Gly297Arg) variant DOID:0060475 myoclonic-atonic epilepsy IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Myoclonic-atonic epilepsy PMID:25741868|PMID:25865495|PMID:28492532|PMID:34653234 10047428 CV190157 NM_003042.4(SLC6A1):c.1000G>C (p.Ala334Pro) variant DOID:0060475 myoclonic-atonic epilepsy IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Myoclonic-atonic epilepsy PMID:25865495|PMID:28492532|PMID:34028503|PMID:36674476 10047429 CV190158 NM_003042.4(SLC6A1):c.1369_1370del (p.Gly457fs) variant DOID:0060475 myoclonic-atonic epilepsy IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure PMID:25865495 10047430 CV190159 NM_003042.4(SLC6A1):c.863C>T (p.Ala288Val) variant DOID:0060041 autism spectrum disorder IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:22495306|PMID:24859339|PMID:25741868|PMID:25865495|PMID:28492532|PMID:29315614 10047430 CV190159 NM_003042.4(SLC6A1):c.863C>T (p.Ala288Val) variant DOID:0060475 myoclonic-atonic epilepsy IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Myoclonic-atonic epilepsy PMID:22495306|PMID:24859339|PMID:25741868|PMID:25865495|PMID:28492532|PMID:29315614 10047430 CV190159 NM_003042.4(SLC6A1):c.863C>T (p.Ala288Val) variant DOID:630 genetic disease IAGP D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22495306|PMID:24859339|PMID:25741868|PMID:25865495|PMID:28492532|PMID:29315614 10047431 CV187251 NC_000012.11:g.57892346A>G variant DOID:0110173 Charcot-Marie-Tooth disease axonal type 2U IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U PMID:25913036|PMID:28492532|PMID:29775242 10047431 CV187251 NC_000012.11:g.57892346A>G variant DOID:9002394 INTERSTITIAL LUNG AND LIVER DISEASE IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Interstitial lung and liver disease PMID:25913036|PMID:28492532|PMID:29775242 10047433 CV190163 NM_006744.4(RBP4):c.223G>A (p.Ala75Thr) variant DOID:630 genetic disease IAGP D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25910211 10047433 CV190163 NM_006744.4(RBP4):c.223G>A (p.Ala75Thr) variant DOID:9000743 Microphthalmia/Coloboma 10 IAGP D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 10 PMID:25910211 10047434 CV190164 NM_006744.4(RBP4):c.217G>A (p.Ala73Thr) variant DOID:10629 microphthalmia IAGP D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Bilateral microphthalmos PMID:25741868|PMID:25910211 10047434 CV190164 NM_006744.4(RBP4):c.217G>A (p.Ala73Thr) variant DOID:9000743 Microphthalmia/Coloboma 10 IAGP D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 10 PMID:25741868|PMID:25910211 10047435 CV190165 NC_000023.10:g.69954448_70045530del variant DOID:0070185 X-linked spermatogenic failure 2 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Spermatogenic failure, X-linked, 2 PMID:25970010 10047436 CV190166 NM_031276.3(TEX11):c.466A>G (p.Met156Val) variant DOID:0070185 X-linked spermatogenic failure 2 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Spermatogenic failure, X-linked, 2 PMID:25741868|PMID:25970010|PMID:28492532 10047437 CV190167 NM_031276.3(TEX11):c.2047G>A (p.Ala683Thr) variant DOID:0070185 X-linked spermatogenic failure 2 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Spermatogenic failure, X-linked, 2 PMID:25741868|PMID:25970010|PMID:28492532 10047438 CV190168 NM_031276.3(TEX11):c.405C>T (p.Ala135=) variant DOID:0070185 X-linked spermatogenic failure 2 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: MALE INFERTILITY FROM DEFECT IN MEIOSIS PMID:25970010|PMID:28492532 10047439 CV190169 NM_006978.3(RNF113A):c.901C>T (p.Gln301Ter) variant DOID:0111868 nonphotosensitive trichothiodystrophy 5 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Trichothiodystrophy 5, nonphotosensitive PMID:25612912|PMID:29144457|PMID:31793730 10047440 CV190170 NM_006087.4(TUBB4A):c.568C>T (p.His190Tyr) variant DOID:0060798 hypomyelinating leukodystrophy 6 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 6 PMID:25741868|PMID:25772097|PMID:27538619|PMID:28492532 10047441 CV190171 NM_000135.4(FANCA):c.2557C>T (p.Arg853Ter) variant DOID:0111095 Fanconi anemia complementation group A IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Fanconi anemia, complementation group A PMID:16084127|PMID:16116422|PMID:19367192|PMID:19423727|PMID:25525159|PMID:25583207|PMID:25741868|PMID:28492532 10047441 CV190171 NM_000135.4(FANCA):c.2557C>T (p.Arg853Ter) variant DOID:13636 Fanconi anemia IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:16084127|PMID:16116422|PMID:19367192|PMID:19423727|PMID:25525159|PMID:25583207|PMID:25741868|PMID:28492532 10047444 CV190174 NC_000017.10:g.69521863_69670036dup variant DOID:0111763 46,XX sex reversal 2 IAGP D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: CHROMOSOME 17q24 DUPLICATION SYNDROME PMID:22051515 10047445 CV190178 NM_001258392.3(CLPB):c.1595del (p.Ile532fs) variant DOID:0081134 3-methylglutaconic aciduria type 7b IAGP D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB PMID:25650066 10047446 CV190179 NM_013328.4(PYCR2):c.355C>T (p.Arg119Cys) variant DOID:0060788 hypomyelinating leukodystrophy 10 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 10 PMID:25865492|PMID:28492532|PMID:30125339|PMID:33771508|PMID:34055512|PMID:36548190 10047447 CV190180 NM_013328.4(PYCR2):c.751C>T (p.Arg251Cys) variant DOID:0060788 hypomyelinating leukodystrophy 10 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 10 PMID:25865492 10047448 CV190183 NM_000921.5(PDE3A):c.1334C>G (p.Thr445Ser) variant DOID:0111247 hypertension and brachydactyly syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Brachydactyly with hypertension PMID:25961942 10047450 CV190198 NM_000033.4(ABCD1):c.887A>G (p.Tyr296Cys) variant DOID:10588 adrenoleukodystrophy IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:10190819|PMID:11748843|PMID:15800013|PMID:16087056|PMID:16415970|PMID:21068741|PMID:22479560|PMID:25275259|PMID:25741868|PMID:26454440|PMID:28492532|PMID:35466195 10047450 CV190198 NM_000033.4(ABCD1):c.887A>G (p.Tyr296Cys) variant DOID:630 genetic disease IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10190819|PMID:11748843|PMID:15800013|PMID:16087056|PMID:16415970|PMID:21068741|PMID:22479560|PMID:25275259|PMID:25741868|PMID:26454440|PMID:28492532|PMID:35466195 10047452 CV190201 NM_000046.5(ARSB):c.98C>T (p.Ala33Val) variant DOID:12800 mucopolysaccharidosis VI IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis type 6 PMID:17458871|PMID:22133300|PMID:25741868|PMID:28492532|PMID:30118150 10047453 CV190202 NM_000070.3(CAPN3):c.145C>T (p.Arg49Cys) variant DOID:0110274 autosomal recessive limb-girdle muscular dystrophy IAGP D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy PMID:16650086|PMID:17318636|PMID:18055493|PMID:18334579|PMID:19285864|PMID:19556129|PMID:20694146|PMID:25135358|PMID:25741868|PMID:26467025|PMID:28403181|PMID:28492532|PMID:31862442|PMID:34355366 10047453 CV190202 NM_000070.3(CAPN3):c.145C>T (p.Arg49Cys) variant DOID:0110275 autosomal recessive limb-girdle muscular dystrophy type 2A IAGP D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2A PMID:16650086|PMID:17318636|PMID:18055493|PMID:18334579|PMID:19285864|PMID:19556129|PMID:20694146|PMID:25135358|PMID:25741868|PMID:26467025|PMID:28403181|PMID:28492532|PMID:31862442|PMID:34355366 10047453 CV190202 NM_000070.3(CAPN3):c.145C>T (p.Arg49Cys) variant DOID:9006843 Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 4 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, autosomal dominant 4 PMID:16650086|PMID:17318636|PMID:18055493|PMID:18334579|PMID:19285864|PMID:19556129|PMID:20694146|PMID:25135358|PMID:25741868|PMID:26467025|PMID:28403181|PMID:28492532|PMID:31862442|PMID:34355366 10047455 CV190206 NM_001122630.2(CDKN1C):c.495G>C (p.Ala165=) variant DOID:5572 Beckwith-Wiedemann syndrome IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome PMID:25741868|PMID:28492532 10047458 CV190209 NM_000088.4(COL1A1):c.91C>T (p.Gln31Ter) variant DOID:0110334 osteogenesis imperfecta type 1 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type I PMID:28492532|PMID:7942841|PMID:9295084|PMID:9443882 10047459 CV190217 NM_000147.5(FUCA1):c.4C>T (p.Arg2Trp) variant DOID:14500 fucosidosis IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Fucosidosis PMID:25741868|PMID:28492532 10047460 CV190218 NM_000147.5(FUCA1):c.29C>G (p.Pro10Arg) variant DOID:14500 fucosidosis IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Fucosidosis PMID:24033266|PMID:25741868|PMID:28492532 10047461 CV190219 NM_000153.4(GALC):c.169G>A (p.Gly57Ser) variant DOID:10587 Krabbe disease IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency PMID:17579360|PMID:21070211|PMID:25260228|PMID:25741868|PMID:27126738|PMID:28492532 10047462 CV190220 NM_000155.4(GALT):c.82+2del variant DOID:9870 galactosemia IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:16199547|PMID:22944367|PMID:28492532 10047463 CV190226 NM_000203.5(IDUA):c.152G>A (p.Gly51Asp) variant DOID:0060222 Scheie syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Scheie Syndrome PMID:12203999|PMID:15862278|PMID:19839758|PMID:21394825|PMID:24036510|PMID:25741868|PMID:28492532|PMID:7951228|PMID:9427149|PMID:9748610 10047463 CV190226 NM_000203.5(IDUA):c.152G>A (p.Gly51Asp) variant DOID:0111389 mucopolysaccharidosis Ih/s IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS TYPE IH/S PMID:12203999|PMID:15862278|PMID:19839758|PMID:21394825|PMID:24036510|PMID:25741868|PMID:28492532|PMID:7951228|PMID:9427149|PMID:9748610 10047463 CV190226 NM_000203.5(IDUA):c.152G>A (p.Gly51Asp) variant DOID:0111390 mucopolysaccharidosis Ih IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Hurler syndrome PMID:12203999|PMID:15862278|PMID:19839758|PMID:21394825|PMID:24036510|PMID:25741868|PMID:28492532|PMID:7951228|PMID:9427149|PMID:9748610 10047463 CV190226 NM_000203.5(IDUA):c.152G>A (p.Gly51Asp) variant DOID:12802 mucopolysaccharidosis I IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 PMID:12203999|PMID:15862278|PMID:19839758|PMID:21394825|PMID:24036510|PMID:25741868|PMID:28492532|PMID:7951228|PMID:9427149|PMID:9748610 10047464 CV190228 NM_000208.4(INSR):c.5C>G (p.Ala2Gly) AND Insulin-resistant diabetes mellitus variant DOID:0050470 Donohue syndrome IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Leprechaunism syndrome PMID:24033266|PMID:25741868|PMID:28492532 10047464 CV190228 NM_000208.4(INSR):c.5C>G (p.Ala2Gly) AND Insulin-resistant diabetes mellitus variant DOID:9001751 Insulin-Resistant Diabetes Mellitus, with Acanthosis Nigricans IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: IRAN, TYPE A PMID:24033266|PMID:25741868|PMID:28492532 10047464 CV190228 NM_000208.4(INSR):c.5C>G (p.Ala2Gly) AND Insulin-resistant diabetes mellitus variant DOID:9001863 PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Pineal hyperplasia AND diabetes mellitus syndrome PMID:24033266|PMID:25741868|PMID:28492532 10047464 CV190228 NM_000208.4(INSR):c.5C>G (p.Ala2Gly) AND Insulin-resistant diabetes mellitus variant DOID:9007692 Insulin Resistance IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Insulin-resistance syndrome type A PMID:24033266|PMID:25741868|PMID:28492532 10047465 CV190230 NM_000232.5(SGCB):c.32dup (p.Gln12fs) variant DOID:0110279 autosomal recessive limb-girdle muscular dystrophy type 2E IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2E PMID:15938573|PMID:18285821|PMID:28492532 10047466 CV190231 NM_000261.2(MYOC):c.227G>A (p.Arg76Lys) variant DOID:1068 juvenile glaucoma IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Glaucoma of childhood PMID:16466712|PMID:18776955|PMID:23029558|PMID:25741868|PMID:28492532|PMID:35196929|PMID:9535666 10047466 CV190231 NM_000261.2(MYOC):c.227G>A (p.Arg76Lys) variant DOID:1686 glaucoma IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Glaucoma PMID:16466712|PMID:18776955|PMID:23029558|PMID:25741868|PMID:28492532|PMID:35196929|PMID:9535666 10047468 CV190239 NM_000283.4(PDE6B):c.132C>G (p.Cys44Trp) variant DOID:0110863 congenital stationary night blindness autosomal dominant 2 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness, autosomal dominant 2 PMID:28492532 10047468 CV190239 NM_000283.4(PDE6B):c.132C>G (p.Cys44Trp) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532 10047470 CV190243 NM_000290.4(PGAM2):c.216C>T (p.Asp72=) variant DOID:9005787 Dimauro Disease IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: PHOSPHOGLYCERATE MUTASE, MUSCLE, DEFICIENCY OF PMID:28492532 10047472 CV190247 NM_000321.3(RB1):c.45_53del (p.Ala16_Ala18del) variant DOID:768 retinoblastoma IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Retinoblastoma PMID:24728327|PMID:25741868|PMID:28492532|PMID:30773851 10047472 CV190247 NM_000321.3(RB1):c.45_53del (p.Ala16_Ala18del) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:24728327|PMID:25741868|PMID:28492532|PMID:30773851 10047473 CV190256 NM_000388.4(CASR):c.78C>G (p.Ala26=) variant DOID:0060699 familial hypocalciuric hypercalcemia IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis PMID:25741868|PMID:28492532 10047473 CV190256 NM_000388.4(CASR):c.78C>G (p.Ala26=) variant DOID:0060700 familial hypocalciuric hypercalcemia 1 IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Hypercalcemia, familial benign type 1 PMID:25741868|PMID:28492532 10047473 CV190256 NM_000388.4(CASR):c.78C>G (p.Ala26=) variant DOID:0090107 autosomal dominant hypocalcemia 1 IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Autosomal dominant hypocalcemia 1 PMID:25741868|PMID:28492532 10047473 CV190256 NM_000388.4(CASR):c.78C>G (p.Ala26=) variant DOID:0111387 familial isolated hypoparathyroidism IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Familial isolated hypoparathyroidism PMID:25741868|PMID:28492532 10047473 CV190256 NM_000388.4(CASR):c.78C>G (p.Ala26=) variant DOID:11202 primary hyperparathyroidism IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Familial benign hypercalcemia PMID:25741868|PMID:28492532 10047473 CV190256 NM_000388.4(CASR):c.78C>G (p.Ala26=) variant DOID:9000874 Hyperparathyroidism, Neonatal Severe Primary IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Neonatal severe primary hyperparathyroidism PMID:25741868|PMID:28492532 10047476 CV190267 NM_000458.4(HNF1B):c.226G>T (p.Gly76Cys) variant DOID:0050387 nonpapillary renal cell carcinoma IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma PMID:16249435|PMID:16371430|PMID:20155289|PMID:21775974|PMID:23539225|PMID:24387224|PMID:24897035|PMID:24961278|PMID:25500806|PMID:25536396|PMID:25700310|PMID:25741868|PMID:26024028|PMID:26059258|PMID:26226118|PMID:26467025|PMID:28492532|PMID:31365591|PMID:31595705|PMID:33324081 10047476 CV190267 NM_000458.4(HNF1B):c.226G>T (p.Gly76Cys) variant DOID:0080205 CAKUT IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:16249435|PMID:16371430|PMID:20155289|PMID:21775974|PMID:23539225|PMID:24387224|PMID:24897035|PMID:24961278|PMID:25500806|PMID:25536396|PMID:25700310|PMID:25741868|PMID:26024028|PMID:26059258|PMID:26226118|PMID:26467025|PMID:28492532|PMID:31365591|PMID:31595705|PMID:33324081 10047476 CV190267 NM_000458.4(HNF1B):c.226G>T (p.Gly76Cys) variant DOID:0111101 renal cysts and diabetes syndrome IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Renal cysts and diabetes syndrome PMID:16249435|PMID:16371430|PMID:20155289|PMID:21775974|PMID:23539225|PMID:24387224|PMID:24897035|PMID:24961278|PMID:25500806|PMID:25536396|PMID:25700310|PMID:25741868|PMID:26024028|PMID:26059258|PMID:26226118|PMID:26467025|PMID:28492532|PMID:31365591|PMID:31595705|PMID:33324081 10047480 CV190271 NM_000518.5(HBB):c.9T>C (p.His3=) variant DOID:0080770 autosomal dominant beta thalassemia IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Beta-thalassemia, dominant inclusion body type PMID:24099628|PMID:25741868|PMID:28492532|PMID:31714438 10047480 CV190271 NM_000518.5(HBB):c.9T>C (p.His3=) variant DOID:0080771 beta-thalassemia major IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Hemoglobin E PMID:24099628|PMID:25741868|PMID:28492532|PMID:31714438 10047480 CV190271 NM_000518.5(HBB):c.9T>C (p.His3=) variant DOID:0080773 delta beta-thalassemia IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Fetal hemoglobin quantitative trait locus 1 PMID:24099628|PMID:25741868|PMID:28492532|PMID:31714438 10047480 CV190271 NM_000518.5(HBB):c.9T>C (p.His3=) variant DOID:0081445 sickle cell disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Sickle cell disease PMID:24099628|PMID:25741868|PMID:28492532|PMID:31714438 10047480 CV190271 NM_000518.5(HBB):c.9T>C (p.His3=) variant DOID:0111363 Heinz body anemia IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Heinz body hemolytic anemia PMID:24099628|PMID:25741868|PMID:28492532|PMID:31714438 10047480 CV190271 NM_000518.5(HBB):c.9T>C (p.His3=) variant DOID:0111632 familial erythrocytosis 6 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: POLYCYTHEMIA, BETA-GLOBIN TYPE PMID:24099628|PMID:25741868|PMID:28492532|PMID:31714438 10047480 CV190271 NM_000518.5(HBB):c.9T>C (p.His3=) variant DOID:10923 sickle cell anemia IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Sickling disorder due to hemoglobin S PMID:24099628|PMID:25741868|PMID:28492532|PMID:31714438 10047480 CV190271 NM_000518.5(HBB):c.9T>C (p.His3=) variant DOID:1099 alpha thalassemia IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: alpha Thalassemia PMID:24099628|PMID:25741868|PMID:28492532|PMID:31714438 10047480 CV190271 NM_000518.5(HBB):c.9T>C (p.His3=) variant DOID:12241 beta thalassemia IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: beta Thalassemia PMID:24099628|PMID:25741868|PMID:28492532|PMID:31714438 10047480 CV190271 NM_000518.5(HBB):c.9T>C (p.His3=) variant DOID:12365 malaria IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Malaria, susceptibility to PMID:24099628|PMID:25741868|PMID:28492532|PMID:31714438 10047480 CV190271 NM_000518.5(HBB):c.9T>C (p.His3=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24099628|PMID:25741868|PMID:28492532|PMID:31714438 10047480 CV190271 NM_000518.5(HBB):c.9T>C (p.His3=) variant DOID:9000792 Methemoglobinemia, Beta-Globin Type IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: METHEMOGLOBINEMIA, BETA TYPE PMID:24099628|PMID:25741868|PMID:28492532|PMID:31714438 10047481 CV190272 NM_000523.4(HOXD13):c.204G>A (p.Ala68=) variant DOID:0110971 brachydactyly type D IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: STUB THUMB PMID:25741868|PMID:28492532 10047481 CV190272 NM_000523.4(HOXD13):c.204G>A (p.Ala68=) variant DOID:0110972 brachydactyly type E1 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brachydactyly type E1 PMID:25741868|PMID:28492532 10047481 CV190272 NM_000523.4(HOXD13):c.204G>A (p.Ala68=) variant DOID:0111819 syndactyly type 5 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Syndactyly with associated metacarpal and metatarsal fusion PMID:25741868|PMID:28492532 10047481 CV190272 NM_000523.4(HOXD13):c.204G>A (p.Ala68=) variant DOID:9005586 Synpolydactyly 1 IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Synpolydactyly type 1 PMID:25741868|PMID:28492532 10047482 CV190279 NM_000543.5(SMPD1):c.107_124del (p.Val36_Leu41del) variant DOID:0070111 Niemann-Pick disease type A IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: SMPD1-related condition PMID:28492532 10047482 CV190279 NM_000543.5(SMPD1):c.107_124del (p.Val36_Leu41del) variant DOID:0070112 Niemann-Pick disease type B IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type B PMID:28492532 10047482 CV190279 NM_000543.5(SMPD1):c.107_124del (p.Val36_Leu41del) variant DOID:14504 Niemann-Pick disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: SPHINGOMYELINASE DEFICIENCY PMID:28492532 10047483 CV190283 NM_000551.4(VHL):c.245G>C (p.Arg82Pro) variant DOID:14175 von Hippel-Lindau disease IAGP D RGD:8554872 20191210 ClinVar ClinVar Annotator: match by term: Von Hippel-Lindau syndrome PMID:10823831|PMID:12056827|PMID:12202531|PMID:15300849|PMID:20447124|PMID:26973240|PMID:28388566 10047484 CV190284 NM_000557.5(GDF5):c.462C>A (p.Pro154=) variant DOID:0050581 brachydactyly IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Brachydactyly PMID:25741868|PMID:28492532 10047484 CV190284 NM_000557.5(GDF5):c.462C>A (p.Pro154=) variant DOID:0050790 fibular hypoplasia and complex brachydactyly IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 2B PMID:25741868|PMID:28492532 10047484 CV190284 NM_000557.5(GDF5):c.462C>A (p.Pro154=) variant DOID:0080051 acromesomelic dysplasia, Hunter-Thompson type IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 2C, Hunter-Thompson type PMID:25741868|PMID:28492532 10047484 CV190284 NM_000557.5(GDF5):c.462C>A (p.Pro154=) variant DOID:0080052 acromesomelic dysplasia, Grebe type IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Grebe syndrome PMID:25741868|PMID:28492532 10047484 CV190284 NM_000557.5(GDF5):c.462C>A (p.Pro154=) variant DOID:0081318 multiple synostoses syndrome 2 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Multiple synostoses syndrome 2 PMID:25741868|PMID:28492532 10047486 CV190292 NM_000900.5(MGP):c.23C>T (p.Ala8Val) variant DOID:9002991 Keutel Syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Pulmonic stenosis brachytelephalangism and calcification of cartilages PMID:28492532 10047487 CV190294 NM_002529.4(NTRK1):c.53G>A (p.Gly18Glu) variant DOID:0070146 hereditary sensory neuropathy type 4 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Hereditary Sensory and Autonomic Neuropathy Type IV PMID:11748840|PMID:16373086|PMID:18179783|PMID:19598235|PMID:22397633|PMID:23241418|PMID:25741868|PMID:27544236|PMID:28492532 10047488 CV190296 NM_001025295.3(IFITM5):c.80G>C (p.Gly27Ala) variant DOID:0110344 osteogenesis imperfecta type 5 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 5 PMID:25741868|PMID:28492532 10047489 CV190297 NM_001025295.3(IFITM5):c.120G>T (p.Ser40=) variant DOID:0110344 osteogenesis imperfecta type 5 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 5 PMID:25741868|PMID:28492532 10047489 CV190297 NM_001025295.3(IFITM5):c.120G>T (p.Ser40=) variant DOID:12347 osteogenesis imperfecta IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:25741868|PMID:28492532 10047490 CV190298 NM_001029883.3(PCARE):c.3668+14T>C variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532 10047491 CV190302 NM_001029883.3(PCARE):c.2348T>C (p.Ile783Thr) variant DOID:0110364 retinitis pigmentosa 54 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: PCARE-related condition PMID:25741868|PMID:28492532 10047492 CV190304 NM_001029883.3(PCARE):c.3178C>A (p.Pro1060Thr) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532 10047493 CV190305 NM_001029883.3(PCARE):c.3114G>C (p.Val1038=) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532 10047494 CV190306 NM_001029883.3(PCARE):c.2875G>A (p.Ala959Thr) variant DOID:0110364 retinitis pigmentosa 54 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 54 PMID:20811058|PMID:21412943|PMID:25741868|PMID:28492532 10047494 CV190306 NM_001029883.3(PCARE):c.2875G>A (p.Ala959Thr) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:20811058|PMID:21412943|PMID:25741868|PMID:28492532 10047496 CV190310 NM_001029883.3(PCARE):c.2112T>C (p.Asn704=) variant DOID:0110364 retinitis pigmentosa 54 IAGP D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 54 PMID:25741868|PMID:28492532 10047496 CV190310 NM_001029883.3(PCARE):c.2112T>C (p.Asn704=) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532 10047496 CV190310 NM_001029883.3(PCARE):c.2112T>C (p.Asn704=) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532 10047497 CV190311 NM_001029883.3(PCARE):c.2063G>A (p.Cys688Tyr) variant DOID:0110364 retinitis pigmentosa 54 IAGP D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 54 PMID:20811058|PMID:21412943|PMID:25741868|PMID:28492532 10047497 CV190311 NM_001029883.3(PCARE):c.2063G>A (p.Cys688Tyr) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:20811058|PMID:21412943|PMID:25741868|PMID:28492532 10047498 CV190312 NM_001029883.3(PCARE):c.1882G>A (p.Ala628Thr) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:21412943|PMID:28492532 10047499 CV190315 NM_001042631.3(SDHAF1):c.269G>C (p.Cys90Ser) variant DOID:9008405 Mitochondrial Complex II Deficiency Nuclear Type 2 IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 2 PMID:25741868|PMID:28492532 10047502 CV190335 NM_001367624.2(ZNF469):c.1143C>A (p.Pro381=) variant DOID:14775 brittle cornea syndrome 1 IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Brittle cornea syndrome 1 PMID:25741868|PMID:28492532 10047503 CV190336 NM_001367624.2(ZNF469):c.1827G>A (p.Ser609=) variant DOID:13359 Ehlers-Danlos syndrome IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:25741868|PMID:28492532 10047503 CV190336 NM_001367624.2(ZNF469):c.1827G>A (p.Ser609=) variant DOID:14775 brittle cornea syndrome 1 IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Brittle cornea syndrome 1 PMID:25741868|PMID:28492532 10047504 CV190338 NM_001367624.2(ZNF469):c.3153T>C (p.Ile1051=) variant DOID:14775 brittle cornea syndrome 1 IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Brittle cornea syndrome 1 PMID:25741868|PMID:28492532 10047505 CV190342 NM_001367624.2(ZNF469):c.1069T>C (p.Ser357Pro) variant DOID:14775 brittle cornea syndrome 1 IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Brittle cornea syndrome 1 PMID:25741868|PMID:28492532 10047506 CV190343 NM_001367624.2(ZNF469):c.1098A>C (p.Arg366Ser) variant DOID:14775 brittle cornea syndrome 1 IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Brittle cornea syndrome 1 PMID:25741868|PMID:28492532 10047507 CV190344 NM_001128228.3(TPRN):c.858C>T (p.Cys286=) variant DOID:0110526 autosomal recessive nonsyndromic deafness 79 IAGP D RGD:8554872 20250729 ClinVar ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 79 PMID:25741868|PMID:28492532 10047509 CV190346 NM_001128228.3(TPRN):c.559G>T (p.Ala187Ser) variant DOID:0110526 autosomal recessive nonsyndromic deafness 79 IAGP D RGD:8554872 20250729 ClinVar ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 79 PMID:25741868|PMID:28492532 10047511 CV190352 NM_001170629.2(CHD8):c.27C>T (p.Phe9=) variant DOID:12849 autistic disorder IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: CHD8-related disorder PMID:25741868|PMID:28492532 10047511 CV190352 NM_001170629.2(CHD8):c.27C>T (p.Phe9=) variant DOID:630 genetic disease IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10047512 CV190356 NM_001184880.2(PCDH19):c.814C>T (p.Gln272Ter) variant DOID:0060848 developmental and epileptic encephalopathy 9 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:21053371|PMID:28492532 10047514 CV190365 NM_001189.4(NKX3-2):c.429G>A (p.Ala143=) variant DOID:65 connective tissue disease IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 10047515 CV190366 NM_001189.4(NKX3-2):c.247C>A (p.Arg83=) variant DOID:9008170 Spondylo-Megaepiphyseal-Metaphyseal Dysplasia IAGP D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Spondylo-megaepiphyseal-metaphyseal dysplasia PMID:25741868|PMID:28492532 10047516 CV190368 NM_001287.6(CLCN7):c.126T>C (p.Pro42=) variant DOID:0110938 autosomal dominant osteopetrosis 2 IAGP D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Autosomal dominant osteopetrosis 2 PMID:25741868|PMID:28492532 10047516 CV190368 NM_001287.6(CLCN7):c.126T>C (p.Pro42=) variant DOID:0110944 autosomal recessive osteopetrosis 4 IAGP D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 4 PMID:25741868|PMID:28492532 10047516 CV190368 NM_001287.6(CLCN7):c.126T>C (p.Pro42=) variant DOID:13533 osteopetrosis IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Osteopetrosis PMID:25741868|PMID:28492532 10047516 CV190368 NM_001287.6(CLCN7):c.126T>C (p.Pro42=) variant DOID:9004721 HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT IAGP D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Hypopigmentation, organomegaly, and delayed myelination and development PMID:25741868|PMID:28492532 10047518 CV190372 NM_001453.3(FOXC1):c.921C>T (p.Gly307=) variant DOID:0110122 Axenfeld-Rieger syndrome type 3 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 PMID:28492532 10047522 CV190380 NM_001540.5(HSPB1):c.9G>A (p.Glu3=) variant DOID:0110163 Charcot-Marie-Tooth disease axonal type 2F IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2F PMID:17623484|PMID:22176143|PMID:25741868|PMID:26467025|PMID:28492532 10047522 CV190380 NM_001540.5(HSPB1):c.9G>A (p.Glu3=) variant DOID:0111207 autosomal dominant distal hereditary motor neuronopathy 3 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB PMID:17623484|PMID:22176143|PMID:25741868|PMID:26467025|PMID:28492532 10047522 CV190380 NM_001540.5(HSPB1):c.9G>A (p.Glu3=) variant DOID:10595 Charcot-Marie-Tooth disease IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:17623484|PMID:22176143|PMID:25741868|PMID:26467025|PMID:28492532 10047522 CV190380 NM_001540.5(HSPB1):c.9G>A (p.Glu3=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17623484|PMID:22176143|PMID:25741868|PMID:26467025|PMID:28492532 10047524 CV190383 NM_001853.4(COL9A3):c.50G>A (p.Gly17Glu) variant DOID:0070304 multiple epiphyseal dysplasia 3 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, 3 PMID:24033266|PMID:25741868|PMID:28492532 10047524 CV190383 NM_001853.4(COL9A3):c.50G>A (p.Gly17Glu) variant DOID:65 connective tissue disease IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:24033266|PMID:25741868|PMID:28492532 10047525 CV190388 NM_001161352.2(KCNMA1):c.34A>G (p.Ser12Gly) variant DOID:0070442 paroxysmal nonkinesigenic dyskinesia 3 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy PMID:19266219|PMID:25741868|PMID:26467025|PMID:27527004|PMID:27697855|PMID:28492532|PMID:34368859|PMID:36011376|PMID:36952000 10047525 CV190388 NM_001161352.2(KCNMA1):c.34A>G (p.Ser12Gly) variant DOID:1059 intellectual disability IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:19266219|PMID:25741868|PMID:26467025|PMID:27527004|PMID:27697855|PMID:28492532|PMID:34368859|PMID:36011376|PMID:36952000 10047528 CV190401 NM_002863.5(PYGL):c.153C>T (p.Asp51=) variant DOID:2754 glycogen storage disease VI IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type VI PMID:25741868|PMID:28492532 10047529 CV190402 NM_002863.5(PYGL):c.176C>T (p.Thr59Met) variant DOID:2754 glycogen storage disease VI IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type VI PMID:25741868|PMID:28492532 10047531 CV190414 NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser) variant DOID:14365 systemic primary carnitine deficiency disease IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Renal carnitine transport defect PMID:17126586|PMID:20027113|PMID:20574985|PMID:21126579|PMID:21922592|PMID:22989098|PMID:23430798|PMID:23430858|PMID:23520115|PMID:23653224|PMID:23963628|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28841266|PMID:36343260 10047532 CV190417 NM_003119.4(SPG7):c.1A>G (p.Met1Val) variant DOID:0110816 hereditary spastic paraplegia 7 IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia Paraplegin type PMID:22964162|PMID:23065789|PMID:25741868|PMID:28492532 10047533 CV190420 NM_003701.4(TNFSF11):c.80A>G (p.Glu27Gly) variant DOID:0110943 autosomal recessive osteopetrosis 2 IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteopetrosis osteoclast-poor PMID:25741868|PMID:28492532 10047533 CV190420 NM_003701.4(TNFSF11):c.80A>G (p.Glu27Gly) variant DOID:4254 osteosclerosis IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteosclerosis PMID:25741868|PMID:28492532 10047534 CV190421 NM_003701.4(TNFSF11):c.126T>C (p.Pro42=) variant DOID:0110943 autosomal recessive osteopetrosis 2 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 2 PMID:25741868|PMID:28492532 10047535 CV190422 NM_003839.4(TNFRSF11A):c.75+5G>A variant DOID:13533 osteopetrosis IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Osteopetrosis PMID:25741868|PMID:28492532 10047535 CV190422 NM_003839.4(TNFRSF11A):c.75+5G>A variant DOID:5408 Paget's disease of bone IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Bone Paget disease PMID:25741868|PMID:28492532 10047536 CV190424 NM_003839.4(TNFRSF11A):c.6C>G (p.Ala2=) variant DOID:0081365 Paget's disease of bone 2 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Paget disease of bone 2, early-onset PMID:25741868|PMID:28492532 10047536 CV190424 NM_003839.4(TNFRSF11A):c.6C>G (p.Ala2=) variant DOID:0110946 autosomal recessive osteopetrosis 7 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 7 PMID:25741868|PMID:28492532 10047537 CV190426 NM_003995.4(NPR2):c.64G>T (p.Ala22Ser) variant DOID:0070316 Miura type epiphyseal chondrodysplasia IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Tall stature-scoliosis-macrodactyly of the great toes syndrome PMID:25741868|PMID:28492532 10047537 CV190426 NM_003995.4(NPR2):c.64G>T (p.Ala22Ser) variant DOID:0080050 acromesomelic dysplasia, Maroteaux type IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia Maroteaux type PMID:25741868|PMID:28492532 10047537 CV190426 NM_003995.4(NPR2):c.64G>T (p.Ala22Ser) variant DOID:9001915 Short Stature with Nonspecific Skeletal Abnormalities 1 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Short stature with nonspecific skeletal abnormalities 1 PMID:25741868|PMID:28492532 10047543 CV190452 NM_004612.4(TGFBR1):c.-2C>T variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868 10047543 CV190452 NM_004612.4(TGFBR1):c.-2C>T variant DOID:5585 Ferguson-Smith tumor IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Multiple self-healing squamous epithelioma PMID:25741868 10047544 CV190453 NM_004643.4(PABPN1):c.186G>A (p.Leu62=) variant DOID:11719 oculopharyngeal muscular dystrophy IAGP D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: PABPN1-related condition PMID:25741868 10047545 CV190457 NM_004820.5(CYP7B1):c.56T>C (p.Leu19Pro) variant DOID:0110810 hereditary spastic paraplegia 5A IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A PMID:19439420|PMID:25741868|PMID:26370385|PMID:26467025|PMID:28492532 10047545 CV190457 NM_004820.5(CYP7B1):c.56T>C (p.Leu19Pro) variant DOID:2476 hereditary spastic paraplegia IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:19439420|PMID:25741868|PMID:26370385|PMID:26467025|PMID:28492532 10047545 CV190457 NM_004820.5(CYP7B1):c.56T>C (p.Leu19Pro) variant DOID:607 paraplegia IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:19439420|PMID:25741868|PMID:26370385|PMID:26467025|PMID:28492532 10047547 CV190465 NM_005220.3(DLX3):c.90T>C (p.Pro30=) variant DOID:0110053 amelogenesis imperfecta type 4 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta, type IV PMID:28492532 10047548 CV190473 NM_005249.5(FOXG1):c.*4C>T variant DOID:0070657 congenital variant of Rett syndrome IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: FOXG1 disorder 10047548 CV190473 NM_005249.5(FOXG1):c.*4C>T variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10047551 CV190484 NM_005634.3(SOX3):c.14G>A (p.Arg5Gln) variant DOID:0111779 X-linked panhypopituitarism IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: PITUITARY DWARFISM IV PMID:21289259|PMID:25741868|PMID:28492532 10047551 CV190484 NM_005634.3(SOX3):c.14G>A (p.Arg5Gln) variant DOID:9000947 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, WITH PANHYPOPITUITARISM IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Intellectual disability, X-linked, with panhypopituitarism PMID:21289259|PMID:25741868|PMID:28492532 10047554 CV172293 NM_005670.4(EPM2A):c.136G>C (p.Ala46Pro) variant DOID:3534 Lafora disease IAGP D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Lafora disease PMID:11735300|PMID:14706656|PMID:16021330|PMID:25741868|PMID:26467025|PMID:28492532 10047554 CV172293 NM_005670.4(EPM2A):c.136G>C (p.Ala46Pro) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11735300|PMID:14706656|PMID:16021330|PMID:25741868|PMID:26467025|PMID:28492532 10047554 CV172293 NM_005670.4(EPM2A):c.136G>C (p.Ala46Pro) variant DOID:891 progressive myoclonus epilepsy IAGP D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:11735300|PMID:14706656|PMID:16021330|PMID:25741868|PMID:26467025|PMID:28492532 10047555 CV190494 NM_006017.3(PROM1):c.55T>G (p.Ser19Ala) variant DOID:0070517 retinal macular dystrophy 2 IAGP D RGD:8554872 20211102 ClinVar ClinVar Annotator: match by term: Retinal macular dystrophy type 2 PMID:25741868|PMID:28492532 10047555 CV190494 NM_006017.3(PROM1):c.55T>G (p.Ser19Ala) variant DOID:0111019 cone-rod dystrophy 12 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 12 PMID:25741868|PMID:28492532 10047555 CV190494 NM_006017.3(PROM1):c.55T>G (p.Ser19Ala) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532 10047555 CV190494 NM_006017.3(PROM1):c.55T>G (p.Ser19Ala) variant DOID:9000565 Stargardt Disease 4 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Stargardt disease 4 PMID:25741868|PMID:28492532 10047556 CV190498 NM_006208.3(ENPP1):c.-10C>T variant DOID:9001198 Hypophosphatemic Rickets, Autosomal Recessive, 2 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Hypophosphatemic rickets, autosomal recessive, 2 10047556 CV190498 NM_006208.3(ENPP1):c.-10C>T variant DOID:9006958 Generalized Arterial Calcification of Infancy, 1 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1 10047557 CV190503 NM_006371.5(CRTAP):c.213G>A (p.Leu71=) variant DOID:0110337 osteogenesis imperfecta type 7 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 7 PMID:25741868|PMID:28492532 10047560 CV190510 NM_006517.3(SLC16A2):c.1A>T (p.Met1Leu) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18398436|PMID:18414213 10047561 CV190512 NM_006517.5(SLC16A2):c.123C>T (p.Pro41=) variant DOID:0050631 Allan-Herndon-Dudley syndrome IAGP D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: SLC16A2-related condition PMID:25741868|PMID:28492532 10047561 CV190512 NM_006517.5(SLC16A2):c.123C>T (p.Pro41=) variant DOID:2476 hereditary spastic paraplegia IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:25741868|PMID:28492532 10047561 CV190512 NM_006517.5(SLC16A2):c.123C>T (p.Pro41=) variant DOID:607 paraplegia IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:25741868|PMID:28492532 10047561 CV190512 NM_006517.5(SLC16A2):c.123C>T (p.Pro41=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10047565 CV190520 NM_012186.3(FOXE3):c.618C>G (p.Ala206=) variant DOID:0060648 anterior segment dysgenesis IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Anterior segment dysgenesis PMID:25741868|PMID:28492532 10047565 CV190520 NM_012186.3(FOXE3):c.618C>G (p.Ala206=) variant DOID:0080607 anterior segment dysgenesis 2 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 2 PMID:25741868|PMID:28492532 10047565 CV190520 NM_012186.3(FOXE3):c.618C>G (p.Ala206=) variant DOID:11367 congenital aphakia IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Congenital primary aphakia PMID:25741868|PMID:28492532 10047566 CV190521 NM_012186.3(FOXE3):c.510C>T (p.Ala170=) variant DOID:0060648 anterior segment dysgenesis IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Anterior segment dysgenesis PMID:25741868|PMID:28492532 10047566 CV190521 NM_012186.3(FOXE3):c.510C>T (p.Ala170=) variant DOID:0080607 anterior segment dysgenesis 2 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 2 PMID:25741868|PMID:28492532 10047566 CV190521 NM_012186.3(FOXE3):c.510C>T (p.Ala170=) variant DOID:0110230 cataract 34 multiple types IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CATARACT 34, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA PMID:25741868|PMID:28492532 10047566 CV190521 NM_012186.3(FOXE3):c.510C>T (p.Ala170=) variant DOID:11367 congenital aphakia IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Congenital primary aphakia PMID:25741868|PMID:28492532 10047566 CV190521 NM_012186.3(FOXE3):c.510C>T (p.Ala170=) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10047566 CV190521 NM_012186.3(FOXE3):c.510C>T (p.Ala170=) variant DOID:9005838 Familial Thoracic Aortic Aneurysm 11 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 11, susceptibility to PMID:25741868|PMID:28492532 10047570 CV190532 NM_014028.4(OSTM1):c.221C>G (p.Pro74Arg) variant DOID:0110939 autosomal recessive osteopetrosis 5 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Osteopetrosis, autosomal recessive 5 PMID:28492532 10047571 CV190536 NM_178138.6(LHX3):c.79+1975G>A variant DOID:0061021 combined pituitary hormone deficiency 3 IAGP D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Winkelman Bethge Pfeiffer syndrome PMID:25741868|PMID:28492532 10047571 CV190536 NM_178138.6(LHX3):c.79+1975G>A variant DOID:9007633 Body Weight IAGP D RGD:405850206 20250906 GWAS_CATALOG Based on the EFO term ID PMID:40436827 10047571 CV190536 NM_178138.6(LHX3):c.79+1975G>A variant DOID:9410 combined pituitary hormone deficiency IAGP D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Pituitary hormone deficiency, combined PMID:25741868|PMID:28492532 10047572 CV190537 NM_178138.6(LHX3):c.79+2007T>C variant DOID:0060224 atrial fibrillation IAGP D RGD:405850206 20250917 GWAS_CATALOG Based on the EFO term ID PMID:30061737 10047572 CV190537 NM_178138.6(LHX3):c.79+2007T>C variant DOID:0061021 combined pituitary hormone deficiency 3 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Winkelman Bethge Pfeiffer syndrome PMID:25741868|PMID:28492532 10047573 CV190550 NM_130837.3(OPA1):c.22G>T (p.Ala8Ser) variant DOID:0111441 optic atrophy 1 IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Kjer-type optic atrophy PMID:16617242|PMID:25741868|PMID:28492532 10047574 CV141471 NM_017775.3(TTC19):c.-347C>A variant DOID:0080111 mitochondrial complex III deficiency nuclear type 1 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 1 PMID:25741868 10047575 CV141473 NM_017775.3(TTC19):c.-169C>G variant DOID:0080111 mitochondrial complex III deficiency nuclear type 1 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 1 PMID:25741868 10047576 CV141475 NM_017775.4(TTC19):c.-15G>A variant DOID:0060351 mitochondrial complex III deficiency nuclear type 2 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 2 PMID:25741868 10047577 CV190557 NM_018139.3(DNAAF2):c.1584T>A (p.Asn528Lys) variant DOID:0110612 primary ciliary dyskinesia 10 IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 10 PMID:28492532 10047577 CV190557 NM_018139.3(DNAAF2):c.1584T>A (p.Asn528Lys) variant DOID:9562 primary ciliary dyskinesia IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 10047578 CV190563 NM_019066.5(MAGEL2):c.3017C>G (p.Thr1006Ser) variant DOID:11983 Prader-Willi syndrome IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Prader-Willi syndrome PMID:25741868|PMID:28492532 10047579 CV190564 NM_019066.5(MAGEL2):c.2074G>A (p.Val692Ile) variant DOID:11983 Prader-Willi syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Prader-Willi syndrome PMID:25741868|PMID:28492532 10047581 CV190573 NM_019066.5(MAGEL2):c.2784C>T (p.Ile928=) variant DOID:0111715 Schaaf-Yang syndrome IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: MAGEL2-related condition PMID:25741868|PMID:28492532 10047582 CV190583 NM_019109.5(ALG1):c.15C>A (p.Cys5Ter) variant DOID:0080563 congenital disorder of glycosylation Ik IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1K PMID:25741868|PMID:26931382 10047582 CV190583 NM_019109.5(ALG1):c.15C>A (p.Cys5Ter) variant DOID:5212 congenital disorder of glycosylation IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:25741868|PMID:26931382 10047583 CV190585 NC_000016.10:g.5072040C>A variant DOID:0080563 congenital disorder of glycosylation Ik IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1K PMID:25741868|PMID:28492532 10047585 CV190593 NM_020451.3(SELENON):c.44_72dup (p.Arg25fs) variant DOID:0110633 rigid spine muscular dystrophy 1 IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy PMID:28492532 10047586 CV190596 NM_020451.3(SELENON):c.13_22dup (p.Gln8fs) variant DOID:0110633 rigid spine muscular dystrophy 1 IAGP D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy PMID:11528383|PMID:12192640|PMID:17951086|PMID:19557870|PMID:20937510|PMID:21131290|PMID:21670436|PMID:23394784|PMID:25741868|PMID:28492532|PMID:29669168|PMID:9585610 10047588 CV190604 NM_020822.3(KCNT1):c.30G>A (p.Pro10=) variant DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 IAGP D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:25741868|PMID:26467025|PMID:28492532 10047588 CV190604 NM_020822.3(KCNT1):c.30G>A (p.Pro10=) variant DOID:0080439 developmental and epileptic encephalopathy 14 IAGP D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:25741868|PMID:26467025|PMID:28492532 10047588 CV190604 NM_020822.3(KCNT1):c.30G>A (p.Pro10=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 10047591 CV190611 NM_022039.4(FBXW4):c.534C>G (p.Ala178=) variant DOID:0090025 split hand-foot malformation 3 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 3 PMID:25741868|PMID:28492532 10047592 CV190612 NM_022039.4(FBXW4):c.472G>C (p.Ala158Pro) variant DOID:0090025 split hand-foot malformation 3 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 3 PMID:25741868|PMID:28492532 10047593 CV190621 NM_024649.5(BBS1):c.24T>C (p.Asp8=) variant DOID:0110123 Bardet-Biedl syndrome 1 IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 PMID:15770229|PMID:17980398|PMID:21344540|PMID:25741868|PMID:28492532 10047593 CV190621 NM_024649.5(BBS1):c.24T>C (p.Asp8=) variant DOID:1935 Bardet-Biedl syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:15770229|PMID:17980398|PMID:21344540|PMID:25741868|PMID:28492532 10047595 CV190628 NM_032119.4(ADGRV1):c.22+9T>C variant DOID:0111305 familial febrile seizures 4 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: ADGRV1-related disorder PMID:24033266|PMID:26467025|PMID:28492532 10047596 CV190636 NM_033028.5(BBS4):c.-17C>T variant DOID:0110126 Bardet-Biedl syndrome 4 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 4 PMID:25741868 10047598 CV190650 NM_133497.4(KCNV2):c.957G>A (p.Leu319=) variant DOID:0081022 retinal cone dystrophy 3B IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: CONE DYSTROPHY WITH SUPERNORMAL ROD RESPONSES PMID:28492532 10047599 CV190651 NM_133497.4(KCNV2):c.58G>A (p.Glu20Lys) variant DOID:0081022 retinal cone dystrophy 3B IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: KCNV2-related condition PMID:25741868|PMID:28492532 10047604 CV190669 NM_153240.5(NPHP3):c.273del (p.Glu90_Tyr91insTer) variant DOID:0111112 nephronophthisis 1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:18371931|PMID:23559409|PMID:28492532 10047604 CV190669 NM_153240.5(NPHP3):c.273del (p.Glu90_Tyr91insTer) variant DOID:12712 nephronophthisis IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:18371931|PMID:23559409|PMID:28492532 10047606 CV190689 NM_207361.6(FREM2):c.3209T>C (p.Phe1070Ser) variant DOID:0111405 Fraser syndrome 1 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Fraser syndrome 1 PMID:25741868|PMID:28492532 10047606 CV190689 NM_207361.6(FREM2):c.3209T>C (p.Phe1070Ser) variant DOID:0111407 Fraser syndrome 2 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Fraser syndrome 2 PMID:25741868|PMID:28492532 10047606 CV190689 NM_207361.6(FREM2):c.3209T>C (p.Phe1070Ser) variant DOID:0111717 isolated cryptophthalmia IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Isolated cryptophthalmia PMID:25741868|PMID:28492532 10047607 CV190697 NM_207361.6(FREM2):c.84C>G (p.Pro28=) variant DOID:0111407 Fraser syndrome 2 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Fraser syndrome 2 PMID:25741868|PMID:28492532 10047607 CV190697 NM_207361.6(FREM2):c.84C>G (p.Pro28=) variant DOID:0111717 isolated cryptophthalmia IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Isolated cryptophthalmia PMID:25741868|PMID:28492532 10047608 CV190698 NM_207361.6(FREM2):c.5003G>A (p.Arg1668His) variant DOID:0111407 Fraser syndrome 2 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Fraser syndrome 2 PMID:25741868|PMID:28492532 10047609 CV190699 NM_207361.6(FREM2):c.1542C>T (p.Ala514=) variant DOID:0111407 Fraser syndrome 2 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Fraser syndrome 2 PMID:25741868|PMID:28492532 10047610 CV190700 NM_207361.6(FREM2):c.2233= (p.Pro745=) variant DOID:0111407 Fraser syndrome 2 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Fraser syndrome 2 PMID:25741868|PMID:28492532 10047611 CV190701 NM_207361.6(FREM2):c.2250C>T (p.Asp750=) variant DOID:0111405 Fraser syndrome 1 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Fraser syndrome 1 PMID:25741868|PMID:28492532 10047611 CV190701 NM_207361.6(FREM2):c.2250C>T (p.Asp750=) variant DOID:0111407 Fraser syndrome 2 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Fraser syndrome 2 PMID:25741868|PMID:28492532 10047612 CV190702 NM_207361.6(FREM2):c.303C>A (p.Pro101=) variant DOID:0111407 Fraser syndrome 2 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Fraser syndrome 2 PMID:25741868|PMID:28492532 10047613 CV190703 NM_000016.6(ACADM):c.928G>A (p.Gly310Arg) variant DOID:0080153 medium chain acyl-CoA dehydrogenase deficiency IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Medium-chain acyl-coenzyme A dehydrogenase deficiency PMID:11349232|PMID:18241067|PMID:20434380|PMID:22630369|PMID:23509891|PMID:25525159|PMID:25741868|PMID:27477829|PMID:28492532 10047614 CV190704 NM_000017.4(ACADS):c.*5G>A variant DOID:0080154 short chain acyl-CoA dehydrogenase deficiency IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase 10047615 CV190708 NM_000022.4(ADA):c.956_960del (p.Glu319fs) variant DOID:5810 adenosine deaminase deficiency IAGP D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to ADA deficiency PMID:23260757|PMID:25741868|PMID:26255240|PMID:26376800|PMID:27129325|PMID:27484032|PMID:28492532|PMID:8401541 10047617 CV190711 NM_000033.4(ABCD1):c.1992-2A>G variant DOID:10588 adrenoleukodystrophy IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:17576681|PMID:28492532|PMID:9536098 10047618 CV190714 NM_054012.4(ASS1):c.688+4T>C variant DOID:0070340 classic citrullinemia IAGP D RGD:8554872 20200303 ClinVar ClinVar Annotator: match by term: Citrullinemia type I PMID:25741868|PMID:28492532 10047618 CV190714 NM_054012.4(ASS1):c.688+4T>C variant DOID:9273 citrullinemia IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Citrullinemia PMID:25741868|PMID:28492532 10047621 CV190722 NM_000155.4(GALT):c.1052del (p.Pro351fs) variant DOID:9870 galactosemia IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Galactose intolerance PMID:10408771|PMID:11261429|PMID:21150919|PMID:25741868|PMID:28492532|PMID:30718057 10047624 CV190727 NM_000182.5(HADHA):c.919-2A>G variant DOID:0061186 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency PMID:15902556|PMID:16199547|PMID:21103935|PMID:21549624|PMID:22459206|PMID:25087612|PMID:25741868|PMID:28492532|PMID:32778825|PMID:7738175 10047624 CV190727 NM_000182.5(HADHA):c.919-2A>G variant DOID:0111277 mitochondrial trifunctional protein deficiency IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial trifunctional protein deficiency PMID:15902556|PMID:16199547|PMID:21103935|PMID:21549624|PMID:22459206|PMID:25087612|PMID:25741868|PMID:28492532|PMID:32778825|PMID:7738175 10047625 CV190728 NM_000208.4(INSR):c.2193G>A (p.Thr731=) variant DOID:0050470 Donohue syndrome IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Leprechaunism syndrome PMID:23705494|PMID:25741868|PMID:28492532|PMID:31989990|PMID:35000900 10047625 CV190728 NM_000208.4(INSR):c.2193G>A (p.Thr731=) variant DOID:0070215 familial hyperinsulinemic hypoglycemia 4 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Hyperinsulinism due to glutamodehydrogenase deficiency PMID:23705494|PMID:25741868|PMID:28492532|PMID:31989990|PMID:35000900 10047625 CV190728 NM_000208.4(INSR):c.2193G>A (p.Thr731=) variant DOID:0070220 familial hyperinsulinemic hypoglycemia 5 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia familial 5 PMID:23705494|PMID:25741868|PMID:28492532|PMID:31989990|PMID:35000900 10047625 CV190728 NM_000208.4(INSR):c.2193G>A (p.Thr731=) variant DOID:9001751 Insulin-Resistant Diabetes Mellitus, with Acanthosis Nigricans IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: IRAN, TYPE A PMID:23705494|PMID:25741868|PMID:28492532|PMID:31989990|PMID:35000900 10047625 CV190728 NM_000208.4(INSR):c.2193G>A (p.Thr731=) variant DOID:9001863 PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Rabson-Mendenhall syndrome PMID:23705494|PMID:25741868|PMID:28492532|PMID:31989990|PMID:35000900 10047625 CV190728 NM_000208.4(INSR):c.2193G>A (p.Thr731=) variant DOID:9007692 Insulin Resistance IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Insulin-resistance syndrome type A PMID:23705494|PMID:25741868|PMID:28492532|PMID:31989990|PMID:35000900 10047627 CV190730 NM_000235.4(LIPA):c.1113A>G (p.Glu371=) variant DOID:0080217 lysosomal acid lipase deficiency IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Lysosomal acid lipase deficiency PMID:25741868|PMID:28492532 10047627 CV190730 NM_000235.4(LIPA):c.1113A>G (p.Glu371=) variant DOID:14497 Wolman disease IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Wolman disease PMID:25741868|PMID:28492532 10047627 CV190730 NM_000235.4(LIPA):c.1113A>G (p.Glu371=) variant DOID:9004186 Wolman Disease with Hypolipoproteinemia and Acanthocytosis IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Wolman disease with hypolipoproteinemia and acanthocytosis PMID:25741868|PMID:28492532 10047628 CV190736 NM_000275.3(OCA2):c.1113C>T (p.Gly371=) variant DOID:0070096 oculocutaneous albinism type II IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Tyrosinase-positive oculocutaneous albinism PMID:25741868|PMID:28492532 10047630 CV190739 NM_000282.4(PCCA):c.775_779del (p.Leu259fs) variant DOID:14701 propionic acidemia IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:15464417|PMID:25741868|PMID:28492532|PMID:9887338 10047631 CV190742 NM_000350.3(ABCA4):c.1356+10dup variant DOID:0050572 cone-rod dystrophy IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive PMID:25741868|PMID:28492532 10047631 CV190742 NM_000350.3(ABCA4):c.1356+10dup variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive PMID:25741868|PMID:28492532 10047631 CV190742 NM_000350.3(ABCA4):c.1356+10dup variant DOID:4448 macular degeneration IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Macular degeneration PMID:25741868|PMID:28492532 10047631 CV190742 NM_000350.3(ABCA4):c.1356+10dup variant DOID:9006630 Stargardt Disease 1 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Stargardt Disease, Recessive PMID:25741868|PMID:28492532 10047633 CV190751 NM_000492.4(CFTR):c.1254T>C (p.Asn418=) variant DOID:1485 cystic fibrosis IAGP D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Cystic fibrosis PMID:28492532 10047636 CV190755 NM_000492.4(CFTR):c.1251C>A (p.Asn417Lys) variant DOID:1485 cystic fibrosis IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Cystic fibrosis PMID:18716917|PMID:25741868|PMID:26436105|PMID:26467025|PMID:28027573|PMID:28492532 10047638 CV190768 NM_001127644.2(GABRA1):c.857-9dup variant DOID:9009315 Idiopathic Generalized Epilepsy IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 10047639 CV190769 NM_001127644.2(GABRA1):c.857-9del variant DOID:9009315 Idiopathic Generalized Epilepsy IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 10047641 CV190774 NM_000157.4(GBA1):c.1265_1319del (p.Leu422fs) variant DOID:0110957 Gaucher's disease type I IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Gaucher disease type I PMID:10079102|PMID:10685993|PMID:10796875|PMID:11783951|PMID:17395504|PMID:20301446|PMID:20947659|PMID:21704274|PMID:22234757|PMID:25741868|PMID:27008851|PMID:28492532|PMID:28727984|PMID:8432537|PMID:8516282|PMID:9153297 10047641 CV190774 NM_000157.4(GBA1):c.1265_1319del (p.Leu422fs) variant DOID:0110960 Gaucher's disease perinatal lethal IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Gaucher disease perinatal lethal PMID:10079102|PMID:10685993|PMID:10796875|PMID:11783951|PMID:17395504|PMID:20301446|PMID:20947659|PMID:21704274|PMID:22234757|PMID:25741868|PMID:27008851|PMID:28492532|PMID:28727984|PMID:8432537|PMID:8516282|PMID:9153297 10047641 CV190774 NM_000157.4(GBA1):c.1265_1319del (p.Leu422fs) variant DOID:12217 Lewy body dementia IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lewy body dementia PMID:10079102|PMID:10685993|PMID:10796875|PMID:11783951|PMID:17395504|PMID:20301446|PMID:20947659|PMID:21704274|PMID:22234757|PMID:25741868|PMID:27008851|PMID:28492532|PMID:28727984|PMID:8432537|PMID:8516282|PMID:9153297 10047641 CV190774 NM_000157.4(GBA1):c.1265_1319del (p.Leu422fs) variant DOID:1926 Gaucher's disease IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Gaucher disease PMID:10079102|PMID:10685993|PMID:10796875|PMID:11783951|PMID:17395504|PMID:20301446|PMID:20947659|PMID:21704274|PMID:22234757|PMID:25741868|PMID:27008851|PMID:28492532|PMID:28727984|PMID:8432537|PMID:8516282|PMID:9153297 10047642 CV190790 NM_001287.6(CLCN7):c.900G>A (p.Ala300=) variant DOID:13533 osteopetrosis IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteopetrosis PMID:25741868|PMID:28492532 10047642 CV190790 NM_001287.6(CLCN7):c.900G>A (p.Ala300=) variant DOID:4254 osteosclerosis IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteosclerosis PMID:25741868|PMID:28492532 10047643 CV190791 NM_001297.5(CNGB1):c.634A>T (p.Thr212Ser) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532 10047644 CV190792 NM_001369.3(DNAH5):c.1251C>T (p.Thr417=) variant DOID:0110599 primary ciliary dyskinesia 3 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 3 PMID:25741868|PMID:28492532 10047644 CV190792 NM_001369.3(DNAH5):c.1251C>T (p.Thr417=) variant DOID:9562 primary ciliary dyskinesia IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:25741868|PMID:28492532 10047645 CV190795 NM_001458.5(FLNC):c.1577G>A (p.Arg526Gln) variant DOID:0080096 myofibrillar myopathy 5 IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy, filamin C-related PMID:25741868|PMID:28492532 10047645 CV190795 NM_001458.5(FLNC):c.1577G>A (p.Arg526Gln) variant DOID:0110327 hypertrophic cardiomyopathy 26 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 26 PMID:25741868|PMID:28492532 10047645 CV190795 NM_001458.5(FLNC):c.1577G>A (p.Arg526Gln) variant DOID:0111190 distal myopathy 4 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Distal myopathy with posterior leg and anterior hand involvement PMID:25741868|PMID:28492532 10047645 CV190795 NM_001458.5(FLNC):c.1577G>A (p.Arg526Gln) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant PMID:25741868|PMID:28492532 10047646 CV190798 NM_001918.5(DBT):c.1210-10_1210-9del variant DOID:9269 maple syrup urine disease IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:25741868|PMID:28492532 10047647 CV190801 NM_002206.3(ITGA7):c.1410-3del variant DOID:0110639 congenital muscular dystrophy due to integrin alpha-7 deficiency IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy due to integrin alpha-7 deficiency PMID:25741868|PMID:26467025|PMID:28492532 10047648 CV190802 NM_002335.4(LRP5):c.2220C>T (p.Asn740=) variant DOID:12347 osteogenesis imperfecta IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:11793484|PMID:12579474|PMID:14727154|PMID:15077203|PMID:15767861|PMID:16679074|PMID:17137849|PMID:17223614|PMID:17306638|PMID:17395706|PMID:17505772|PMID:18588671|PMID:25741868|PMID:26467025|PMID:28492532 10047648 CV190802 NM_002335.4(LRP5):c.2220C>T (p.Asn740=) variant DOID:4254 osteosclerosis IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteosclerosis PMID:11793484|PMID:12579474|PMID:14727154|PMID:15077203|PMID:15767861|PMID:16679074|PMID:17137849|PMID:17223614|PMID:17306638|PMID:17395706|PMID:17505772|PMID:18588671|PMID:25741868|PMID:26467025|PMID:28492532 10047650 CV190806 NM_002693.3(POLG):c.1837C>T (p.His613Tyr) variant DOID:0080122 Alpers-Huttenlocher syndrome IAGP D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy PMID:21880868|PMID:25741868|PMID:26467025|PMID:28130605|PMID:28492532|PMID:32019516 10047650 CV190806 NM_002693.3(POLG):c.1837C>T (p.His613Tyr) variant DOID:0080123 mitochondrial DNA depletion syndrome 4B IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4b PMID:21880868|PMID:25741868|PMID:26467025|PMID:28130605|PMID:28492532|PMID:32019516 10047650 CV190806 NM_002693.3(POLG):c.1837C>T (p.His613Tyr) variant DOID:0111276 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE PMID:21880868|PMID:25741868|PMID:26467025|PMID:28130605|PMID:28492532|PMID:32019516 10047650 CV190806 NM_002693.3(POLG):c.1837C>T (p.His613Tyr) variant DOID:0111521 autosomal dominant progressive external ophthalmoplegia 1 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 PMID:21880868|PMID:25741868|PMID:26467025|PMID:28130605|PMID:28492532|PMID:32019516 10047650 CV190806 NM_002693.3(POLG):c.1837C>T (p.His613Tyr) variant DOID:0111522 autosomal recessive progressive external ophthalmoplegia 1 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1 PMID:21880868|PMID:25741868|PMID:26467025|PMID:28130605|PMID:28492532|PMID:32019516 10047650 CV190806 NM_002693.3(POLG):c.1837C>T (p.His613Tyr) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21880868|PMID:25741868|PMID:26467025|PMID:28130605|PMID:28492532|PMID:32019516 10047650 CV190806 NM_002693.3(POLG):c.1837C>T (p.His613Tyr) variant DOID:9008631 progressive myoclonus epilepsy 5 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5 PMID:21880868|PMID:25741868|PMID:26467025|PMID:28130605|PMID:28492532|PMID:32019516 10047651 CV190807 NM_002863.5(PYGL):c.1093-6C>A variant DOID:2754 glycogen storage disease VI IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type VI PMID:25741868|PMID:28492532 10047652 CV190808 NM_002878.4(RAD51D):c.955C>T (p.Gln319Ter) variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 PMID:25741868|PMID:26261251|PMID:26467025|PMID:28492532|PMID:28709830|PMID:30165555|PMID:30877237|PMID:37344589 10047652 CV190808 NM_002878.4(RAD51D):c.955C>T (p.Gln319Ter) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:26261251|PMID:26467025|PMID:28492532|PMID:28709830|PMID:30165555|PMID:30877237|PMID:37344589 10047656 CV190821 NM_003482.4(KMT2D):c.2283_2309del (p.Ala765_Gln773del) variant DOID:0060473 Kabuki syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Kabuki syndrome PMID:18414213|PMID:28492532 10047657 CV190825 NM_003742.4(ABCB11):c.957A>G (p.Gly319=) variant DOID:0070222 progressive familial intrahepatic cholestasis 2 IAGP D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2 PMID:25741868|PMID:28492532 10047658 CV190826 NM_004006.3(DMD):c.1093C>T (p.Gln365Ter) variant DOID:0110461 X-linked dilated cardiomyopathy IAGP D RGD:8554872 20240903 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 3B PMID:15351422|PMID:16770791|PMID:19937601|PMID:25007885|PMID:25525159|PMID:25741868|PMID:28492532|PMID:28859693 10047658 CV190826 NM_004006.3(DMD):c.1093C>T (p.Gln365Ter) variant DOID:11723 Duchenne muscular dystrophy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:15351422|PMID:16770791|PMID:19937601|PMID:25007885|PMID:25525159|PMID:25741868|PMID:28492532|PMID:28859693 10047658 CV190826 NM_004006.3(DMD):c.1093C>T (p.Gln365Ter) variant DOID:9883 Becker muscular dystrophy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Becker muscular dystrophy PMID:15351422|PMID:16770791|PMID:19937601|PMID:25007885|PMID:25525159|PMID:25741868|PMID:28492532|PMID:28859693 10047660 CV190829 NM_004183.4(BEST1):c.1410G>A (p.Thr470=) variant DOID:0050662 bestrophinopathy IAGP D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Bestrophinopathy, autosomal recessive PMID:25741868|PMID:28492532 10047660 CV190829 NM_004183.4(BEST1):c.1410G>A (p.Thr470=) variant DOID:0110396 retinitis pigmentosa 50 IAGP D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 50 PMID:25741868|PMID:28492532 10047660 CV190829 NM_004183.4(BEST1):c.1410G>A (p.Thr470=) variant DOID:0111569 autosomal dominant vitreoretinochoroidopathy IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Vitreoretinochoroidopathy PMID:25741868|PMID:28492532 10047660 CV190829 NM_004183.4(BEST1):c.1410G>A (p.Thr470=) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532 10047660 CV190829 NM_004183.4(BEST1):c.1410G>A (p.Thr470=) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532 10047660 CV190829 NM_004183.4(BEST1):c.1410G>A (p.Thr470=) variant DOID:9002891 Vitelliform Macular Dystrophy 2 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Vitelliform macular dystrophy type 2 PMID:25741868|PMID:28492532 10047660 CV190829 NM_004183.4(BEST1):c.1410G>A (p.Thr470=) variant DOID:9005725 Iron Overload IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Iron Overload PMID:25741868|PMID:28492532 10047661 CV190830 NM_004183.4(BEST1):c.1474G>A (p.Val492Ile) variant DOID:0111569 autosomal dominant vitreoretinochoroidopathy IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Autosomal dominant vitreoretinochoroidopathy PMID:25741868|PMID:28492532 10047661 CV190830 NM_004183.4(BEST1):c.1474G>A (p.Val492Ile) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532 10047661 CV190830 NM_004183.4(BEST1):c.1474G>A (p.Val492Ile) variant DOID:9002891 Vitelliform Macular Dystrophy 2 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Vitelliform macular dystrophy 2 PMID:25741868|PMID:28492532 10047661 CV190830 NM_004183.4(BEST1):c.1474G>A (p.Val492Ile) variant DOID:9005725 Iron Overload IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Iron Overload PMID:25741868|PMID:28492532 10047662 CV190832 NM_004260.4(RECQL4):c.1704+9C>T variant DOID:0050654 Baller-Gerold syndrome IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Baller-Gerold syndrome PMID:25741868|PMID:27247962|PMID:28492532 10047662 CV190832 NM_004260.4(RECQL4):c.1704+9C>T variant DOID:0050774 rapadilino syndrome IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Rapadilino syndrome PMID:25741868|PMID:27247962|PMID:28492532 10047662 CV190832 NM_004260.4(RECQL4):c.1704+9C>T variant DOID:9005992 Rothmund-Thomson Syndrome Type 2 IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Rothmund-Thomson syndrome type 2 PMID:25741868|PMID:27247962|PMID:28492532 10047662 CV190832 NM_004260.4(RECQL4):c.1704+9C>T variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:27247962|PMID:28492532 10047663 CV190838 NM_004595.5(SMS):c.1026A>C (p.Ser342=) variant DOID:0060802 syndromic X-linked intellectual disability Snyder type IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Snyder Robinson syndrome PMID:19377476|PMID:25741868|PMID:26467025|PMID:28492532 10047663 CV190838 NM_004595.5(SMS):c.1026A>C (p.Ser342=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19377476|PMID:25741868|PMID:26467025|PMID:28492532 10047664 CV190840 NM_005045.4(RELN):c.906C>T (p.Ala302=) variant DOID:0060751 familial temporal lobe epilepsy 7 IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Familial temporal lobe epilepsy 7 PMID:25741868|PMID:28492532 10047664 CV190840 NM_005045.4(RELN):c.906C>T (p.Ala302=) variant DOID:0060902 Norman-Roberts syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Norman-Roberts syndrome PMID:25741868|PMID:28492532 10047665 CV190843 NM_005529.7(HSPG2):c.1082C>A (p.Thr361Asn) variant DOID:0090005 Schwartz-Jampel syndrome 1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Schwartz-Jampel syndrome PMID:25504735|PMID:26467025|PMID:28492532 10047665 CV190843 NM_005529.7(HSPG2):c.1082C>A (p.Thr361Asn) variant DOID:9005084 Kniest Like Dysplasia Lethal IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Lethal Kniest-like syndrome PMID:25504735|PMID:26467025|PMID:28492532 10047666 CV190845 NM_005609.4(PYGM):c.1184C>T (p.Thr395Met) variant DOID:2746 glycogen storage disease V IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:25741868|PMID:28492532 10047668 CV190852 NM_006516.4(SLC2A1):c.1296C>A (p.Tyr432Ter) variant DOID:0070561 glucose transporter type 1 deficiency syndrome 1 IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: GLUT1 deficiency syndrome 1, autosomal recessive PMID:23280796|PMID:23340081|PMID:25741868|PMID:28116237|PMID:28492532|PMID:29303961 10047669 CV190854 NM_006642.5(SDCCAG8):c.1094G>A (p.Arg365Lys) variant DOID:0110138 Bardet-Biedl syndrome 16 IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 16 PMID:25741868|PMID:28492532 10047669 CV190854 NM_006642.5(SDCCAG8):c.1094G>A (p.Arg365Lys) variant DOID:630 genetic disease IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10047669 CV190854 NM_006642.5(SDCCAG8):c.1094G>A (p.Arg365Lys) variant DOID:9004000 Senior-Loken Syndrome 7 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 7 PMID:25741868|PMID:28492532 10047670 CV190855 NM_006949.4(STXBP2):c.795-4C>T variant DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5 PMID:25741868|PMID:28492532 10047670 CV190855 NM_006949.4(STXBP2):c.795-4C>T variant DOID:2935 Chediak-Higashi syndrome IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:25741868|PMID:28492532 10047672 CV190861 NM_007317.3(KIF22):c.1506G>A (p.Glu502=) variant DOID:0112199 spondyloepimetaphyseal dysplasia with joint laxity type 2 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: KIF22-related condition PMID:25741868|PMID:28492532 10047673 CV190865 NM_014014.5(SNRNP200):c.1159A>G (p.Met387Val) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532 10047674 CV190874 NM_014363.6(SACS):c.8873A>G (p.Lys2958Arg) variant DOID:0050946 Charlevoix-Saguenay spastic ataxia IAGP D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia PMID:23280630|PMID:25741868|PMID:26467025|PMID:28492532 10047674 CV190874 NM_014363.6(SACS):c.8873A>G (p.Lys2958Arg) variant DOID:2476 hereditary spastic paraplegia IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:23280630|PMID:25741868|PMID:26467025|PMID:28492532 10047674 CV190874 NM_014363.6(SACS):c.8873A>G (p.Lys2958Arg) variant DOID:607 paraplegia IAGP D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:23280630|PMID:25741868|PMID:26467025|PMID:28492532 10047675 CV190878 NM_014874.4(MFN2):c.975C>T (p.Gly325=) variant DOID:0050539 Charcot-Marie-Tooth disease type 2 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 PMID:25741868|PMID:28492532 10047675 CV190878 NM_014874.4(MFN2):c.975C>T (p.Gly325=) variant DOID:0080068 Charcot-Marie-Tooth disease type 6 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: PERIPHERAL NEUROPATHY AND OPTIC ATROPHY PMID:25741868|PMID:28492532 10047676 CV190879 NM_015046.7(SETX):c.3147C>T (p.His1049=) variant DOID:0050755 spinocerebellar ataxia with axonal neuropathy 2 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 PMID:14770181|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10047676 CV190879 NM_015046.7(SETX):c.3147C>T (p.His1049=) variant DOID:0060196 amyotrophic lateral sclerosis type 4 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 4 PMID:14770181|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10047677 CV190883 NM_015629.4(PRPF31):c.1073+1G>A variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16199547|PMID:16799052|PMID:18317597|PMID:23950152|PMID:28492532 10047678 CV190891 NM_018451.5(CPAP):c.2992-17dup variant DOID:0050569 Seckel syndrome IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Seckel syndrome PMID:25741868|PMID:28492532 10047678 CV190891 NM_018451.5(CPAP):c.2992-17dup variant DOID:10907 microcephaly IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Primary Microcephaly, Recessive PMID:25741868|PMID:28492532 10047679 CV190892 NM_020223.4(FAM20C):c.1681G>A (p.Val561Met) variant DOID:9000666 Raine Syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lethal osteosclerotic bone dysplasia PMID:25741868|PMID:28492532 10047680 CV190893 NM_020223.4(FAM20C):c.1659G>T (p.Val553=) variant DOID:9000666 Raine Syndrome IAGP D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Lethal osteosclerotic bone dysplasia PMID:24033266|PMID:25741868|PMID:28492532 10047681 CV190894 NM_020223.4(FAM20C):c.1690A>G (p.Asn564Asp) variant DOID:9000666 Raine Syndrome IAGP D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Lethal osteosclerotic bone dysplasia PMID:24033266|PMID:25741868|PMID:28492532 10047682 CV190896 NM_020800.3(IFT80):c.1076C>T (p.Ser359Phe) variant DOID:0050592 asphyxiating thoracic dystrophy IAGP D RGD:8554872 20181023 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:25741868|PMID:28492532 10047682 CV190896 NM_020800.3(IFT80):c.1076C>T (p.Ser359Phe) variant DOID:0110086 asphyxiating thoracic dystrophy 2 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 2 PMID:25741868|PMID:28492532 10047682 CV190896 NM_020800.3(IFT80):c.1076C>T (p.Ser359Phe) variant DOID:65 connective tissue disease IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 10047683 CV190903 NM_024649.5(BBS1):c.887del (p.Ile296fs) variant DOID:0110123 Bardet-Biedl syndrome 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 PMID:12118255|PMID:20472660|PMID:25741868|PMID:28492532 10047683 CV190903 NM_024649.5(BBS1):c.887del (p.Ile296fs) variant DOID:1935 Bardet-Biedl syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12118255|PMID:20472660|PMID:25741868|PMID:28492532 10047683 CV190903 NM_024649.5(BBS1):c.887del (p.Ile296fs) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:12118255|PMID:20472660|PMID:25741868|PMID:28492532 10047685 CV190910 NM_031885.5(BBS2):c.1099dup (p.Leu367fs) variant DOID:0110124 Bardet-Biedl syndrome 2 IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 2 PMID:25741868 10047686 CV190914 NM_053025.4(MYLK):c.984G>A (p.Ser328=) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:28492532 10047686 CV190914 NM_053025.4(MYLK):c.984G>A (p.Ser328=) variant DOID:9006750 Familial Thoracic Aortic Aneurysm 7 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 PMID:28492532 10047687 CV190915 NM_053025.4(MYLK):c.1007C>T (p.Pro336Leu) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20181009 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection PMID:25741868|PMID:28492532 10047687 CV190915 NM_053025.4(MYLK):c.1007C>T (p.Pro336Leu) variant DOID:65 connective tissue disease IAGP D RGD:8554872 20181009 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 10047687 CV190915 NM_053025.4(MYLK):c.1007C>T (p.Pro336Leu) variant DOID:9006750 Familial Thoracic Aortic Aneurysm 7 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: AORTIC DISSECTION, FAMILIAL, WITH OR WITHOUT AORTIC ANEURYSM PMID:25741868|PMID:28492532 10047689 CV190918 NM_001177316.2(SLC34A3):c.929G>A (p.Arg310His) variant DOID:630 genetic disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10047691 CV190925 NM_147127.5(EVC2):c.1364C>G (p.Thr455Arg) variant DOID:0111571 Weyers acrofacial dysostosis IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: WEYERS ACRODENTAL DYSOSTOSIS PMID:25326635|PMID:25741868|PMID:28492532 10047691 CV190925 NM_147127.5(EVC2):c.1364C>G (p.Thr455Arg) variant DOID:12714 Ellis-Van Creveld syndrome IAGP D RGD:8554872 20181009 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld Syndrome PMID:25326635|PMID:25741868|PMID:28492532 10047692 CV190926 NM_147127.5(EVC2):c.1437A>G (p.Glu479=) variant DOID:12714 Ellis-Van Creveld syndrome IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:25741868|PMID:28492532 10047694 CV190945 NM_001164508.2(NEB):c.20467-4del variant DOID:3191 nemaline myopathy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Nemaline myopathy PMID:25741868 10047696 CV190952 NM_000059.4(BRCA2):c.5723_5727del (p.Leu1908fs) variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:20104584|PMID:28492532 10047696 CV190952 NM_000059.4(BRCA2):c.5723_5727del (p.Leu1908fs) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:20104584|PMID:28492532 10047697 CV190958 NM_000082.4(ERCC8):c.1080T>C (p.Ala360=) variant DOID:0080907 Cockayne syndrome A IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Cockayne syndrome type A PMID:25741868|PMID:28492532 10047700 CV190974 NM_000392.5(ABCC2):c.1483A>G (p.Lys495Glu) variant DOID:12308 Dubin-Johnson syndrome IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Dubin-Johnson syndrome PMID:16847695|PMID:18673259|PMID:20849526|PMID:25741868|PMID:27604170|PMID:28492532 10047702 CV190981 NM_000875.5(IGF1R):c.2298C>T (p.Thr766=) variant DOID:9000145 IGF1R-RELATED DISORDER IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Somatomedin-c resistance to PMID:20416304|PMID:25741868|PMID:28492532 10047703 CV190984 NM_001004334.4(GPR179):c.5563C>G (p.Leu1855Val) variant DOID:0110869 congenital stationary night blindness 1E IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: GPR179-related condition PMID:25741868|PMID:28492532 10047704 CV190986 NM_001004334.4(GPR179):c.5605C>G (p.Gln1869Glu) variant DOID:0110869 congenital stationary night blindness 1E IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness 1E PMID:25741868|PMID:28492532 10047705 CV190987 NM_001004334.4(GPR179):c.3847C>T (p.Pro1283Ser) variant DOID:0110869 congenital stationary night blindness 1E IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness 1E PMID:25741868|PMID:28492532 10047706 CV190989 NM_001004334.4(GPR179):c.2392G>A (p.Ala798Thr) variant DOID:0110869 congenital stationary night blindness 1E IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness 1E PMID:25741868|PMID:28492532 10047711 CV190998 NM_001130823.3(DNMT1):c.891+8C>T variant DOID:0050968 autosomal dominant cerebellar ataxia, deafness and narcolepsy IAGP D RGD:8554872 20250821 ClinVar ClinVar Annotator: match by term: DNMT1-related disorder PMID:25741868|PMID:28492532 10047711 CV190998 NM_001130823.3(DNMT1):c.891+8C>T variant DOID:0070158 hereditary sensory neuropathy type 1E IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Hereditary sensory neuropathy type IE PMID:25741868|PMID:28492532 10047712 CV191010 NM_001793.6(CDH3):c.1436T>C (p.Leu479Pro) variant DOID:0111649 ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: EEM syndrome PMID:25741868|PMID:28492532|PMID:32483926 10047712 CV191010 NM_001793.6(CDH3):c.1436T>C (p.Leu479Pro) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532|PMID:32483926 10047715 CV191016 NM_002087.4(GRN):c.1298G>A (p.Arg433Gln) variant DOID:0060672 frontotemporal dementia 2 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Grn-related frontotemporal lobar degeneration with Tdp43 inclusions PMID:18183624|PMID:18543312|PMID:20020531|PMID:22312439|PMID:25741868|PMID:26467025|PMID:28492532 10047715 CV191016 NM_002087.4(GRN):c.1298G>A (p.Arg433Gln) variant DOID:0110732 neuronal ceroid lipofuscinosis 11 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 11 PMID:18183624|PMID:18543312|PMID:20020531|PMID:22312439|PMID:25741868|PMID:26467025|PMID:28492532 10047715 CV191016 NM_002087.4(GRN):c.1298G>A (p.Arg433Gln) variant DOID:630 genetic disease IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18183624|PMID:18543312|PMID:20020531|PMID:22312439|PMID:25741868|PMID:26467025|PMID:28492532 10047716 CV191019 NM_001252024.2(TRPM1):c.1305G>A (p.Thr435=) variant DOID:0110867 congenital stationary night blindness 1C IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness, type 1C PMID:25741868|PMID:28492532 10047717 CV191026 NM_003384.3(VRK1):c.1058_1060del (p.Thr353del) variant DOID:0060265 pontocerebellar hypoplasia type 1A IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 1A PMID:25741868|PMID:28492532 10047717 CV191026 NM_003384.3(VRK1):c.1058_1060del (p.Thr353del) variant DOID:630 genetic disease IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10047719 CV191028 NM_003482.4(KMT2D):c.2798-7del variant DOID:0060473 Kabuki syndrome IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Kabuki syndrome PMID:25741868|PMID:28492532 10047719 CV191028 NM_003482.4(KMT2D):c.2798-7del variant DOID:9001255 Kabuki Syndrome 1 IAGP D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868|PMID:28492532 10047720 CV191030 NM_001079872.2(CUL4B):c.1257-9dup variant DOID:0060822 syndromic X-linked intellectual disability Cabezas type IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE PMID:28492532 10047721 CV191032 NM_004006.3(DMD):c.1286C>G (p.Ser429Ter) variant DOID:11723 Duchenne muscular dystrophy IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:16770791|PMID:19937601|PMID:25007885|PMID:25741868|PMID:28492532 10047722 CV191033 NM_004006.3(DMD):c.1150-2A>G variant DOID:11723 Duchenne muscular dystrophy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:16199547|PMID:16770791|PMID:17726484|PMID:25007885|PMID:28492532|PMID:28859693|PMID:29973226|PMID:31379145 10047724 CV191043 NM_001164508.2(NEB):c.914A>G (p.Asp305Gly) variant DOID:0110928 nemaline myopathy 2 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 2 PMID:25741868|PMID:28391287|PMID:28492532 10047725 CV191047 NM_005591.4(MRE11):c.1225+19T>C variant DOID:0081384 ataxia-telangiectasia-like disorder 1 IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder 1 PMID:19383352|PMID:25741868|PMID:28492532 10047725 CV191047 NM_005591.4(MRE11):c.1225+19T>C variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:19383352|PMID:25741868|PMID:28492532 10047725 CV191047 NM_005591.4(MRE11):c.1225+19T>C variant DOID:9004583 Ataxia Telangiectasia Like Disorder IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder PMID:19383352|PMID:25741868|PMID:28492532 10047726 CV191055 NM_001199397.3(NEK1):c.869-1G>T variant DOID:0110092 short-rib thoracic dysplasia 6 with or without polydactyly IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly PMID:25492405 10047727 CV191060 NM_014714.4(IFT140):c.1336A>G (p.Ile446Val) variant DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:25741868|PMID:28492532 10047728 CV191063 NM_015272.5(RPGRIP1L):c.1340T>C (p.Leu447Ser) variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:19430481|PMID:24033266|PMID:25741868|PMID:28492532 10047728 CV191063 NM_015272.5(RPGRIP1L):c.1340T>C (p.Leu447Ser) variant DOID:0070119 Meckel syndrome 5 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 5 PMID:19430481|PMID:24033266|PMID:25741868|PMID:28492532 10047729 CV191064 NM_015311.3(OBSL1):c.3649G>A (p.Glu1217Lys) variant DOID:9006598 Three M Syndrome 2 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Three M syndrome 2 PMID:25741868|PMID:28492532 10047730 CV191066 NM_015346.4(ZFYVE26):c.2067C>T (p.Leu689=) variant DOID:0110768 hereditary spastic paraplegia 15 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 15 PMID:26467025|PMID:28492532 10047730 CV191066 NM_015346.4(ZFYVE26):c.2067C>T (p.Leu689=) variant DOID:607 paraplegia IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:26467025|PMID:28492532 10047731 CV191074 NM_001378120.1(MBD5):c.3743A>G (p.Gln1248Arg) variant DOID:0070031 autosomal dominant intellectual developmental disorder 1 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Mental retardation, autosomal dominant 1 PMID:25741868|PMID:28492532 10047731 CV191074 NM_001378120.1(MBD5):c.3743A>G (p.Gln1248Arg) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10047732 CV191078 NM_020361.5(CPA6):c.1237C>T (p.Leu413Phe) variant DOID:0111308 familial febrile seizures 11 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Febrile seizures, familial, 11 PMID:25741868|PMID:28492532 10047733 CV191080 NM_020686.6(ABAT):c.684G>A (p.Thr228=) variant DOID:0060174 GABA aminotransferase deficiency IAGP D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiency PMID:26467025|PMID:28492532 10047734 CV191082 NM_020686.6(ABAT):c.816+7C>A variant DOID:0060174 GABA aminotransferase deficiency IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiency PMID:26467025|PMID:28492532 10047735 CV191087 NM_001366722.1(GRIP1):c.1355-10_1355-8del variant DOID:0111405 Fraser syndrome 1 IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Cryptophthalmos syndrome PMID:28492532 10047736 CV191088 NM_021625.5(TRPV4):c.1684G>A (p.Val562Ile) variant DOID:0050690 brachyolmia IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Brachyolmia PMID:25741868|PMID:28492532 10047736 CV191088 NM_021625.5(TRPV4):c.1684G>A (p.Val562Ile) variant DOID:0110182 Charcot-Marie-Tooth disease axonal type 2C IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2C PMID:25741868|PMID:28492532 10047736 CV191088 NM_021625.5(TRPV4):c.1684G>A (p.Val562Ile) variant DOID:0111215 autosomal dominant distal hereditary motor neuronopathy 8 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy, congenital nonprogressive PMID:25741868|PMID:28492532 10047736 CV191088 NM_021625.5(TRPV4):c.1684G>A (p.Val562Ile) variant DOID:0111514 metatropic dysplasia IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Metatrophic dysplasia PMID:25741868|PMID:28492532 10047736 CV191088 NM_021625.5(TRPV4):c.1684G>A (p.Val562Ile) variant DOID:0111552 scapuloperoneal spinal muscular atrophy IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Scapuloperoneal spinal muscular atrophy PMID:25741868|PMID:28492532 10047736 CV191088 NM_021625.5(TRPV4):c.1684G>A (p.Val562Ile) variant DOID:0111554 spondylometaphyseal dysplasia Kozlowski type IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Spondylometaphyseal dysplasia, Kozlowski type PMID:25741868|PMID:28492532 10047736 CV191088 NM_021625.5(TRPV4):c.1684G>A (p.Val562Ile) variant DOID:10595 Charcot-Marie-Tooth disease IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:25741868|PMID:28492532 10047736 CV191088 NM_021625.5(TRPV4):c.1684G>A (p.Val562Ile) variant DOID:65 connective tissue disease IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 10047736 CV191088 NM_021625.5(TRPV4):c.1684G>A (p.Val562Ile) variant DOID:9003559 Brachyolmia Type 3 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Brachyolmia Type 3 PMID:25741868|PMID:28492532 10047737 CV191090 NM_023036.6(DNAI2):c.1408G>A (p.Gly470Ser) variant DOID:0110622 primary ciliary dyskinesia 9 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 9 PMID:28492532 10047737 CV191090 NM_023036.6(DNAI2):c.1408G>A (p.Gly470Ser) variant DOID:9562 primary ciliary dyskinesia IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 10047738 CV191092 NM_001384732.1(CPLANE1):c.1411C>G (p.Leu471Val) variant DOID:0110986 Joubert Syndrome 17 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Joubert syndrome 17 PMID:28492532 10047738 CV191092 NM_001384732.1(CPLANE1):c.1411C>G (p.Leu471Val) variant DOID:630 genetic disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10047739 CV191094 NM_024577.4(SH3TC2):c.2087A>G (p.His696Arg) variant DOID:0050541 Charcot-Marie-Tooth disease type 4 IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:25741868|PMID:26467025|PMID:27582484|PMID:28492532 10047739 CV191094 NM_024577.4(SH3TC2):c.2087A>G (p.His696Arg) variant DOID:0110183 Charcot-Marie-Tooth disease type 4C IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 4C PMID:25741868|PMID:26467025|PMID:27582484|PMID:28492532 10047739 CV191094 NM_024577.4(SH3TC2):c.2087A>G (p.His696Arg) variant DOID:10595 Charcot-Marie-Tooth disease IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:25741868|PMID:26467025|PMID:27582484|PMID:28492532 10047739 CV191094 NM_024577.4(SH3TC2):c.2087A>G (p.His696Arg) variant DOID:9005946 Mononeuropathy of the Median Nerve, Mild IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Mononeuropathy of the median nerve, mild PMID:25741868|PMID:26467025|PMID:27582484|PMID:28492532 10047741 CV191111 NM_198525.3(KIF7):c.2335G>C (p.Glu779Gln) variant DOID:9250 acrocallosal syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Acrocallosal syndrome PMID:25741868|PMID:28492532 10047742 CV191114 NM_207352.4(CYP4V2):c.1446G>A (p.Ser482=) variant DOID:0050664 Bietti crystalline corneoretinal dystrophy IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Bietti crystalline corneoretinal dystrophy PMID:28492532 10047742 CV191114 NM_207352.4(CYP4V2):c.1446G>A (p.Ser482=) variant DOID:2566 corneal dystrophy IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Corneal Dystrophy, Recessive PMID:28492532 10047742 CV191114 NM_207352.4(CYP4V2):c.1446G>A (p.Ser482=) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532 10047743 CV191118 NM_182914.3(SYNE2):c.20197G>A (p.Glu6733Lys) variant DOID:0070250 autosomal dominant Emery-Dreifuss muscular dystrophy 5 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 5, autosomal dominant PMID:25741868|PMID:28492532 10047744 CV191119 NM_182914.3(SYNE2):c.20410G>A (p.Asp6804Asn) variant DOID:0070250 autosomal dominant Emery-Dreifuss muscular dystrophy 5 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 5, autosomal dominant PMID:25741868|PMID:26467025|PMID:28492532|PMID:29970176 10047745 CV191127 NM_004260.4(RECQL4):c.1954G>A (p.Val652Met) variant DOID:0050654 Baller-Gerold syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Baller-Gerold syndrome PMID:25741868|PMID:28492532 10047745 CV191127 NM_004260.4(RECQL4):c.1954G>A (p.Val652Met) variant DOID:0050774 rapadilino syndrome IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Rapadilino syndrome PMID:25741868|PMID:28492532 10047745 CV191127 NM_004260.4(RECQL4):c.1954G>A (p.Val652Met) variant DOID:9005992 Rothmund-Thomson Syndrome Type 2 IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Rothmund-Thomson syndrome type 2 PMID:25741868|PMID:28492532 10047745 CV191127 NM_004260.4(RECQL4):c.1954G>A (p.Val652Met) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532 10047746 CV191131 NM_054012.4(ASS1):c.805G>A (p.Val269Met) variant DOID:0070340 classic citrullinemia IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Citrullinemia type I PMID:12684898|PMID:12815590|PMID:14680976|PMID:25741868|PMID:28492532|PMID:31469252|PMID:32778825|PMID:33851512 10047746 CV191131 NM_054012.4(ASS1):c.805G>A (p.Val269Met) variant DOID:9273 citrullinemia IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Citrullinemia PMID:12684898|PMID:12815590|PMID:14680976|PMID:25741868|PMID:28492532|PMID:31469252|PMID:32778825|PMID:33851512 10047747 CV191132 NM_000053.4(ATP7B):c.2785A>G (p.Ile929Val) variant DOID:893 Wilson disease IAGP D RGD:8554872 20211109 ClinVar ClinVar Annotator: match by term: Wilson disease PMID:11405812|PMID:17587212|PMID:20045993|PMID:21219664|PMID:21707886|PMID:22692182|PMID:23235335|PMID:24253677|PMID:25130000|PMID:25741868|PMID:26807378|PMID:27022412|PMID:28492532 10047749 CV191139 NM_000159.4(GCDH):c.1244-2A>C variant DOID:0111254 glutaric acidemia I IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:11058907|PMID:15505393|PMID:17576681|PMID:18683078|PMID:21176883|PMID:23104440|PMID:25256449|PMID:25741868|PMID:27672653|PMID:28492532|PMID:9536098 10047750 CV191141 NM_000249.4(MLH1):c.1039-8del variant DOID:0070274 hereditary nonpolyposis colorectal cancer type 2 IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 2 PMID:25741868 10047750 CV191141 NM_000249.4(MLH1):c.1039-8del variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer PMID:25741868 10047750 CV191141 NM_000249.4(MLH1):c.1039-8del variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868 10047751 CV191144 NM_000271.5(NPC1):c.1947+6dup variant DOID:0070113 Niemann-Pick disease type C1 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C1 PMID:28492532 10047752 CV191149 NM_000275.3(OCA2):c.1183-4A>G variant DOID:0070096 oculocutaneous albinism type II IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Tyrosinase-positive oculocutaneous albinism PMID:25741868|PMID:28492532 10047754 CV191154 NM_000426.4(LAMA2):c.1701C>T (p.Ile567=) variant DOID:0110636 congenital merosin-deficient muscular dystrophy 1A IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Laminin alpha 2-related dystrophy PMID:25741868|PMID:28492532 10047754 CV191154 NM_000426.4(LAMA2):c.1701C>T (p.Ile567=) variant DOID:9007352 Congenital Muscular Dystrophy due to Partial LAMA2 Deficiency IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy due to partial LAMA2 deficiency PMID:25741868|PMID:28492532 10047755 CV191159 NM_000478.6(ALPL):c.1565T>C (p.Val522Ala) variant DOID:0110913 adult hypophosphatasia IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Adult hypophosphatasia PMID:25741868|PMID:28492532|PMID:30680361 10047755 CV191159 NM_000478.6(ALPL):c.1565T>C (p.Val522Ala) variant DOID:0110914 infantile hypophosphatasia IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Infantile hypophosphatasia PMID:25741868|PMID:28492532|PMID:30680361 10047755 CV191159 NM_000478.6(ALPL):c.1565T>C (p.Val522Ala) variant DOID:0110915 childhood hypophosphatasia IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Childhood hypophosphatasia PMID:25741868|PMID:28492532|PMID:30680361 10047755 CV191159 NM_000478.6(ALPL):c.1565T>C (p.Val522Ala) variant DOID:14213 hypophosphatasia IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hypophosphatasia PMID:25741868|PMID:28492532|PMID:30680361 10047756 CV191162 NM_000521.4(HEXB):c.1478T>G (p.Val493Gly) variant DOID:3323 Sandhoff disease IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Sandhoff disease PMID:28492532 10047758 CV191166 NM_000552.5(VWF):c.1329C>T (p.Ser443=) variant DOID:0060573 von Willebrand's disease 1 IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: von Willebrand disease type 1 PMID:25741868 10047758 CV191166 NM_000552.5(VWF):c.1329C>T (p.Ser443=) variant DOID:0060574 von Willebrand's disease 2 IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: von Willebrand disease type 2 PMID:25741868 10047758 CV191166 NM_000552.5(VWF):c.1329C>T (p.Ser443=) variant DOID:0111054 von Willebrand's disease 3 IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: von Willebrand disease type 3 PMID:25741868 10047760 CV191171 NM_001348946.2(ABCB1):c.1199G>A (p.Ser400Asn) variant DOID:0110893 inflammatory bowel disease 13 IAGP D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: ABCB1-related condition PMID:25741868 10047761 CV191174 NM_001017995.3(SH3PXD2B):c.1063-8C>T variant DOID:0111789 Frank-Ter Haar syndrome IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Frank Ter Haar syndrome PMID:28492532 10047762 CV191175 NM_001017995.3(SH3PXD2B):c.1063-9T>C variant DOID:0111789 Frank-Ter Haar syndrome IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Frank Ter Haar syndrome PMID:28492532 10047763 CV191180 NM_001061.7(TBXAS1):c.1420del (p.Ala474fs) variant DOID:0112251 Ghosal hematodiaphyseal syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ghosal hematodiaphyseal dysplasia PMID:22735388|PMID:28492532 10047764 CV191184 NM_001082538.3(TCTN1):c.1379G>C (p.Ser460Thr) variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:25741868|PMID:28492532 10047766 CV191189 NM_001130438.3(SPTAN1):c.1511C>T (p.Ala504Val) variant DOID:0080438 developmental and epileptic encephalopathy 5 IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 5 PMID:25741868|PMID:26467025|PMID:28492532 10047766 CV191189 NM_001130438.3(SPTAN1):c.1511C>T (p.Ala504Val) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:25741868|PMID:26467025|PMID:28492532 10047766 CV191189 NM_001130438.3(SPTAN1):c.1511C>T (p.Ala504Val) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 10047767 CV191194 NM_001142800.2(EYS):c.1985G>T (p.Arg662Met) variant DOID:0110384 retinitis pigmentosa 25 IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 25 PMID:28492532 10047767 CV191194 NM_001142800.2(EYS):c.1985G>T (p.Arg662Met) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532 10047767 CV191194 NM_001142800.2(EYS):c.1985G>T (p.Arg662Met) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532 10047768 CV187817 NM_001165963.4(SCN1A):c.2134C>T (p.Arg712Ter) variant DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Autosomal dominant epilepsy PMID:11940708|PMID:12083760|PMID:16458823|PMID:17347258|PMID:18804930|PMID:18930999|PMID:20522430|PMID:21248271|PMID:22151702|PMID:23195492|PMID:23808377|PMID:25741868|PMID:26096185|PMID:26467025|PMID:26544041|PMID:28079314|PMID:28387369|PMID:28492532|PMID:29100083|PMID:31864146|PMID:32056211|PMID:32090326|PMID:35571373 10047768 CV187817 NM_001165963.4(SCN1A):c.2134C>T (p.Arg712Ter) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:11940708|PMID:12083760|PMID:16458823|PMID:17347258|PMID:18804930|PMID:18930999|PMID:20522430|PMID:21248271|PMID:22151702|PMID:23195492|PMID:23808377|PMID:25741868|PMID:26096185|PMID:26467025|PMID:26544041|PMID:28079314|PMID:28387369|PMID:28492532|PMID:29100083|PMID:31864146|PMID:32056211|PMID:32090326|PMID:35571373 10047768 CV187817 NM_001165963.4(SCN1A):c.2134C>T (p.Arg712Ter) variant DOID:0080468 developmental and epileptic encephalopathy 1 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome PMID:11940708|PMID:12083760|PMID:16458823|PMID:17347258|PMID:18804930|PMID:18930999|PMID:20522430|PMID:21248271|PMID:22151702|PMID:23195492|PMID:23808377|PMID:25741868|PMID:26096185|PMID:26467025|PMID:26544041|PMID:28079314|PMID:28387369|PMID:28492532|PMID:29100083|PMID:31864146|PMID:32056211|PMID:32090326|PMID:35571373 10047768 CV187817 NM_001165963.4(SCN1A):c.2134C>T (p.Arg712Ter) variant DOID:0111294 generalized epilepsy with febrile seizures plus 2 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 2 PMID:11940708|PMID:12083760|PMID:16458823|PMID:17347258|PMID:18804930|PMID:18930999|PMID:20522430|PMID:21248271|PMID:22151702|PMID:23195492|PMID:23808377|PMID:25741868|PMID:26096185|PMID:26467025|PMID:26544041|PMID:28079314|PMID:28387369|PMID:28492532|PMID:29100083|PMID:31864146|PMID:32056211|PMID:32090326|PMID:35571373 10047768 CV187817 NM_001165963.4(SCN1A):c.2134C>T (p.Arg712Ter) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11940708|PMID:12083760|PMID:16458823|PMID:17347258|PMID:18804930|PMID:18930999|PMID:20522430|PMID:21248271|PMID:22151702|PMID:23195492|PMID:23808377|PMID:25741868|PMID:26096185|PMID:26467025|PMID:26544041|PMID:28079314|PMID:28387369|PMID:28492532|PMID:29100083|PMID:31864146|PMID:32056211|PMID:32090326|PMID:35571373 10047768 CV187817 NM_001165963.4(SCN1A):c.2134C>T (p.Arg712Ter) variant DOID:308 early myoclonic encephalopathy IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe PMID:11940708|PMID:12083760|PMID:16458823|PMID:17347258|PMID:18804930|PMID:18930999|PMID:20522430|PMID:21248271|PMID:22151702|PMID:23195492|PMID:23808377|PMID:25741868|PMID:26096185|PMID:26467025|PMID:26544041|PMID:28079314|PMID:28387369|PMID:28492532|PMID:29100083|PMID:31864146|PMID:32056211|PMID:32090326|PMID:35571373 10047768 CV187817 NM_001165963.4(SCN1A):c.2134C>T (p.Arg712Ter) variant DOID:630 genetic disease IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11940708|PMID:12083760|PMID:16458823|PMID:17347258|PMID:18804930|PMID:18930999|PMID:20522430|PMID:21248271|PMID:22151702|PMID:23195492|PMID:23808377|PMID:25741868|PMID:26096185|PMID:26467025|PMID:26544041|PMID:28079314|PMID:28387369|PMID:28492532|PMID:29100083|PMID:31864146|PMID:32056211|PMID:32090326|PMID:35571373 10047769 CV191196 NM_001182.5(ALDH7A1):c.1093+1G>A variant DOID:0080768 pyridoxine-dependent epilepsy IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Pyridoxine-dependent epilepsy PMID:16199547|PMID:16491085|PMID:20554659|PMID:20814824|PMID:28492532|PMID:34495967 10047771 CV191199 NM_001429.4(EP300):c.2240C>T (p.Pro747Leu) variant DOID:1933 Rubinstein-Taybi syndrome IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:28492532 10047772 CV191201 NM_001458.5(FLNC):c.1902G>A (p.Glu634=) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:25741868|PMID:26467025|PMID:28213671|PMID:28492532 10047772 CV191201 NM_001458.5(FLNC):c.1902G>A (p.Glu634=) variant DOID:0080096 myofibrillar myopathy 5 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 5 PMID:25741868|PMID:26467025|PMID:28213671|PMID:28492532 10047772 CV191201 NM_001458.5(FLNC):c.1902G>A (p.Glu634=) variant DOID:0110327 hypertrophic cardiomyopathy 26 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 26 PMID:25741868|PMID:26467025|PMID:28213671|PMID:28492532 10047772 CV191201 NM_001458.5(FLNC):c.1902G>A (p.Glu634=) variant DOID:0111190 distal myopathy 4 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Distal myopathy with posterior leg and anterior hand involvement PMID:25741868|PMID:26467025|PMID:28213671|PMID:28492532 10047772 CV191201 NM_001458.5(FLNC):c.1902G>A (p.Glu634=) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant PMID:25741868|PMID:26467025|PMID:28213671|PMID:28492532 10047773 CV191203 NM_001848.3(COL6A1):c.957+2T>C variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1A PMID:20976770|PMID:25204870|PMID:25741868|PMID:29419890 10047774 CV191210 NM_002335.4(LRP5):c.2529C>T (p.Asp843=) variant DOID:0060849 osteoporosis-pseudoglioma syndrome IAGP D RGD:8554872 20240213 ClinVar ClinVar Annotator: match by term: Pseudoglioma with bone fragility PMID:25741868|PMID:28492532 10047774 CV191210 NM_002335.4(LRP5):c.2529C>T (p.Asp843=) variant DOID:0060977 polycystic liver disease 4 IAGP D RGD:8554872 20240213 ClinVar ClinVar Annotator: match by term: Polycystic liver disease 4 with or without kidney cysts PMID:25741868|PMID:28492532 10047774 CV191210 NM_002335.4(LRP5):c.2529C>T (p.Asp843=) variant DOID:0080037 Worth syndrome IAGP D RGD:8554872 20240213 ClinVar ClinVar Annotator: match by term: Osteosclerosis autosomal dominant Worth type PMID:25741868|PMID:28492532 10047774 CV191210 NM_002335.4(LRP5):c.2529C>T (p.Asp843=) variant DOID:0110937 autosomal dominant osteopetrosis 1 IAGP D RGD:8554872 20240213 ClinVar ClinVar Annotator: match by term: OSTEOPETROSIS, AUTOSOMAL DOMINANT, TYPE I PMID:25741868|PMID:28492532 10047774 CV191210 NM_002335.4(LRP5):c.2529C>T (p.Asp843=) variant DOID:0111411 exudative vitreoretinopathy 4 IAGP D RGD:8554872 20240213 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 4 PMID:25741868|PMID:28492532 10047774 CV191210 NM_002335.4(LRP5):c.2529C>T (p.Asp843=) variant DOID:0111412 exudative vitreoretinopathy 1 IAGP D RGD:8554872 20240213 ClinVar ClinVar Annotator: match by term: Familial exudative vitreoretinopathy, autosomal dominant PMID:25741868|PMID:28492532 10047774 CV191210 NM_002335.4(LRP5):c.2529C>T (p.Asp843=) variant DOID:11476 osteoporosis IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 1 PMID:25741868|PMID:28492532 10047777 CV191214 NM_001367721.1(CASK):c.1077G>A (p.Ala359=) variant DOID:0060807 syndromic X-linked intellectual disability Najm type IAGP D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked PMID:25741868|PMID:28492532 10047777 CV191214 NM_001367721.1(CASK):c.1077G>A (p.Ala359=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10047777 CV191214 NM_001367721.1(CASK):c.1077G>A (p.Ala359=) variant DOID:9001153 FG Syndrome 4 IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: CASK-related disorder PMID:25741868|PMID:28492532 10047779 CV191221 NM_001318510.2(ACSL4):c.1325A>G (p.Tyr442Cys) variant DOID:0112050 non-syndromic X-linked intellectual disability 63 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: ACSL4-related condition PMID:25741868|PMID:28492532 10047779 CV191221 NM_001318510.2(ACSL4):c.1325A>G (p.Tyr442Cys) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10047780 CV191224 NM_004984.4(KIF5A):c.1293+9G>A variant DOID:0110763 hereditary spastic paraplegia 10 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 10 PMID:25741868|PMID:26467025|PMID:28492532 10047780 CV191224 NM_004984.4(KIF5A):c.1293+9G>A variant DOID:2476 hereditary spastic paraplegia IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:25741868|PMID:26467025|PMID:28492532 10047780 CV191224 NM_004984.4(KIF5A):c.1293+9G>A variant DOID:607 paraplegia IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:25741868|PMID:26467025|PMID:28492532 10047781 CV191227 NM_005199.5(CHRNG):c.1422C>T (p.Arg474=) variant DOID:0081322 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Autosomal recessive multiple pterygium syndrome PMID:25741868|PMID:28492532 10047781 CV191227 NM_005199.5(CHRNG):c.1422C>T (p.Arg474=) variant DOID:9005962 Multiple Pterygium Syndrome, Lethal Type IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Lethal multiple pterygium syndrome PMID:25741868|PMID:28492532 10047782 CV191228 NM_001374353.1(GLI2):c.1935G>A (p.Ser645=) variant DOID:0080328 Culler-Jones syndrome IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: GLI2-related disorder PMID:25741868|PMID:28492532 10047782 CV191228 NM_001374353.1(GLI2):c.1935G>A (p.Ser645=) variant DOID:0110873 holoprosencephaly 9 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 9 PMID:25741868|PMID:28492532 10047783 CV191238 NM_006348.5(COG5):c.1247A>G (p.Tyr416Cys) variant DOID:0070261 congenital disorder of glycosylation type IIi IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2i PMID:25741868|PMID:28492532 10047784 CV191239 NM_006486.3(FBLN1):c.1441+9G>A variant DOID:9001994 Synpolydactyly 2 IAGP D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: FBLN1-related condition PMID:28492532 10047785 CV191241 NM_206965.2(FTCD):c.1366dup (p.Glu456fs) variant DOID:0111679 glutamate formiminotransferase deficiency IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Glutamate formiminotransferase deficiency PMID:25741868|PMID:28492532|PMID:29178637|PMID:30740726|PMID:31980526 10047785 CV191241 NM_206965.2(FTCD):c.1366dup (p.Glu456fs) variant DOID:630 genetic disease IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:29178637|PMID:30740726|PMID:31980526 10047786 CV191249 NM_013382.7(POMT2):c.1262G>A (p.Arg421Gln) variant DOID:0111240 congenital muscular dystrophy-dystroglycanopathy type A2 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 PMID:25267602|PMID:25741868|PMID:26467025|PMID:28492532 10047787 CV191254 NM_014874.4(MFN2):c.1179G>A (p.Met393Ile) variant DOID:0050539 Charcot-Marie-Tooth disease type 2 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 PMID:22957060|PMID:23615052|PMID:25741868|PMID:26467025|PMID:28492532 10047787 CV191254 NM_014874.4(MFN2):c.1179G>A (p.Met393Ile) variant DOID:10595 Charcot-Marie-Tooth disease IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:22957060|PMID:23615052|PMID:25741868|PMID:26467025|PMID:28492532 10047787 CV191254 NM_014874.4(MFN2):c.1179G>A (p.Met393Ile) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22957060|PMID:23615052|PMID:25741868|PMID:26467025|PMID:28492532 10047789 CV191265 NM_017777.4(MKS1):c.1025-2A>C variant DOID:0070115 Meckel syndrome 1 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 1 PMID:25741868 10047789 CV191265 NM_017777.4(MKS1):c.1025-2A>C variant DOID:0110135 Bardet-Biedl syndrome 13 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 13 PMID:25741868 10047789 CV191265 NM_017777.4(MKS1):c.1025-2A>C variant DOID:0110997 Joubert Syndrome 28 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Joubert syndrome 28 PMID:25741868 10047790 CV191270 NM_019109.5(ALG1):c.1188-2A>G variant DOID:0080563 congenital disorder of glycosylation Ik IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1K PMID:16199547|PMID:20679665|PMID:23806237|PMID:25741868|PMID:26931382|PMID:28492532 10047790 CV191270 NM_019109.5(ALG1):c.1188-2A>G variant DOID:5212 congenital disorder of glycosylation IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:16199547|PMID:20679665|PMID:23806237|PMID:25741868|PMID:26931382|PMID:28492532 10047792 CV191275 NM_020822.3(KCNT1):c.1104G>A (p.Ala368=) variant DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 IAGP D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:25741868|PMID:28492532 10047792 CV191275 NM_020822.3(KCNT1):c.1104G>A (p.Ala368=) variant DOID:0080439 developmental and epileptic encephalopathy 14 IAGP D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:25741868|PMID:28492532 10047792 CV191275 NM_020822.3(KCNT1):c.1104G>A (p.Ala368=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10047793 CV191276 NM_022089.4(ATP13A2):c.1195+10G>A variant DOID:0060556 Kufor-Rakeb syndrome IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Kufor-Rakeb syndrome PMID:25741868|PMID:26467025|PMID:28492532 10047794 CV191277 NM_022132.5(MCCC2):c.1081C>T (p.Arg361Ter) variant DOID:0080580 3-methylcrotonyl-CoA carboxylase 2 deficiency IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: 3-methylcrotonyl-CoA carboxylase 2 deficiency PMID:11181649|PMID:22642865|PMID:25741868|PMID:28492532 10047795 CV191278 NM_022336.4(EDAR):c.1144G>A (p.Gly382Ser) variant DOID:0111663 ectodermal dysplasia 10A IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant PMID:16029325|PMID:22032522|PMID:25741868|PMID:28492532 10047795 CV191278 NM_022336.4(EDAR):c.1144G>A (p.Gly382Ser) variant DOID:0111665 ectodermal dysplasia 10B IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive PMID:16029325|PMID:22032522|PMID:25741868|PMID:28492532 10047796 CV191279 NM_022455.5(NSD1):c.4642-7T>C variant DOID:0112103 Sotos syndrome 1 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: NSD1-related condition PMID:25741868|PMID:28492532 10047796 CV191279 NM_022455.5(NSD1):c.4642-7T>C variant DOID:14748 Sotos syndrome IAGP D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Sotos syndrome PMID:25741868|PMID:28492532 10047797 CV191280 NM_001077525.3(MTMR14):c.1067C>T (p.Thr356Met) variant DOID:0111223 centronuclear myopathy 1 IAGP D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: MTMR14-related condition PMID:28492532 10047798 CV191283 NM_001384732.1(CPLANE1):c.1819dup (p.Tyr607fs) variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Joubert syndrome and related disorders PMID:24178751|PMID:25741868|PMID:26092869|PMID:28492532|PMID:34091942 10047798 CV191283 NM_001384732.1(CPLANE1):c.1819dup (p.Tyr607fs) variant DOID:0060376 Joubert syndrome with orofaciodigital defect IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Orofaciodigital syndrome VI PMID:24178751|PMID:25741868|PMID:26092869|PMID:28492532|PMID:34091942 10047798 CV191283 NM_001384732.1(CPLANE1):c.1819dup (p.Tyr607fs) variant DOID:0110986 Joubert Syndrome 17 IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Joubert syndrome 17 PMID:24178751|PMID:25741868|PMID:26092869|PMID:28492532|PMID:34091942 10047799 CV191287 NM_031885.5(BBS2):c.1422G>A (p.Ser474=) variant DOID:0110123 Bardet-Biedl syndrome 1 IAGP D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 PMID:25741868|PMID:28492532 10047799 CV191287 NM_031885.5(BBS2):c.1422G>A (p.Ser474=) variant DOID:0110124 Bardet-Biedl syndrome 2 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 2 PMID:25741868|PMID:28492532 10047799 CV191287 NM_031885.5(BBS2):c.1422G>A (p.Ser474=) variant DOID:1935 Bardet-Biedl syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:25741868|PMID:28492532 10047800 CV191289 NM_052989.3(IFT122):c.1103G>A (p.Ser368Asn) variant DOID:0050572 cone-rod dystrophy IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Rod-cone dystrophy PMID:25741868|PMID:28492532 10047800 CV191289 NM_052989.3(IFT122):c.1103G>A (p.Ser368Asn) variant DOID:0080803 cranioectodermal dysplasia 1 IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Cranioectodermal dysplasia 1 PMID:25741868|PMID:28492532 10047800 CV191289 NM_052989.3(IFT122):c.1103G>A (p.Ser368Asn) variant DOID:65 connective tissue disease IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 10047801 CV191296 NM_147127.5(EVC2):c.1711-11_1711-10del variant DOID:12714 Ellis-Van Creveld syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:28492532 10047802 CV191301 NM_198428.3(BBS9):c.1280C>T (p.Ala427Val) variant DOID:0110131 Bardet-Biedl syndrome 9 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 9 PMID:25741868|PMID:28492532 10047802 CV191301 NM_198428.3(BBS9):c.1280C>T (p.Ala427Val) variant DOID:1935 Bardet-Biedl syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:25741868|PMID:28492532 10047803 CV191303 NM_203475.3(PORCN):c.1158G>A (p.Ser386=) variant DOID:630 genetic disease IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10047804 CV191305 NM_001164508.2(NEB):c.22005G>A (p.Thr7335=) variant DOID:0110928 nemaline myopathy 2 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 2 PMID:25741868|PMID:28492532 10047805 CV191310 NM_182961.4(SYNE1):c.23315G>A (p.Arg7772Gln) variant DOID:0070249 autosomal dominant Emery-Dreifuss muscular dystrophy 4 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant PMID:25401298|PMID:25741868|PMID:26467025|PMID:26770814|PMID:28492532|PMID:29625556|PMID:29961767|PMID:30029642 10047805 CV191310 NM_182961.4(SYNE1):c.23315G>A (p.Arg7772Gln) variant DOID:0111618 autosomal recessive spinocerebellar ataxia 8 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 PMID:25401298|PMID:25741868|PMID:26467025|PMID:26770814|PMID:28492532|PMID:29625556|PMID:29961767|PMID:30029642 10047806 CV191313 NM_000071.3(CBS):c.1218del (p.Lys406fs) variant DOID:9263 homocystinuria IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:25741868|PMID:28492532 10047807 CV191314 NM_000096.4(CP):c.2286-15G>T variant DOID:0050711 aceruloplasminemia IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Deficiency of ferroxidase PMID:25741868|PMID:28492532 10047808 CV191315 NM_000124.4(ERCC6):c.2403C>T (p.Ala801=) variant DOID:0080908 Cockayne syndrome B IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Cockayne syndrome B PMID:25741868|PMID:28492532 10047808 CV191315 NM_000124.4(ERCC6):c.2403C>T (p.Ala801=) variant DOID:0080911 cerebrooculofacioskeletal syndrome 1 IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 1 PMID:25741868|PMID:28492532 10047808 CV191315 NM_000124.4(ERCC6):c.2403C>T (p.Ala801=) variant DOID:0110028 age related macular degeneration 5 IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Age-related macular degeneration 5 PMID:25741868|PMID:28492532 10047809 CV191317 NM_000152.5(GAA):c.1802C>T (p.Ser601Leu) variant DOID:2752 glycogen storage disease II IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type II PMID:22252923|PMID:22644586|PMID:22676651|PMID:23787031|PMID:25741868|PMID:28394184|PMID:28492532|PMID:30023291|PMID:31130284|PMID:31342611|PMID:31899940 10047810 CV191321 NM_000271.5(NPC1):c.2073G>A (p.Pro691=) variant DOID:0070113 Niemann-Pick disease type C1 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease type C1 PMID:24033266|PMID:25741868|PMID:28492532 10047810 CV191321 NM_000271.5(NPC1):c.2073G>A (p.Pro691=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 10047811 CV191322 NM_000271.5(NPC1):c.2103C>T (p.Asn701=) variant DOID:0070113 Niemann-Pick disease type C1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C1 PMID:25741868|PMID:28492532 10047814 CV191328 NM_000287.4(PEX6):c.2440C>T (p.Arg814Ter) variant DOID:0050444 infantile Refsum disease IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:10408779|PMID:19877282|PMID:21031596|PMID:25741868|PMID:28492532|PMID:31831025 10047814 CV191328 NM_000287.4(PEX6):c.2440C>T (p.Arg814Ter) variant DOID:0080479 peroxisome biogenesis disorder 4A IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 4A (Zellweger) PMID:10408779|PMID:19877282|PMID:21031596|PMID:25741868|PMID:28492532|PMID:31831025 10047814 CV191328 NM_000287.4(PEX6):c.2440C>T (p.Arg814Ter) variant DOID:0080624 Heimler syndrome 2 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 4C PMID:10408779|PMID:19877282|PMID:21031596|PMID:25741868|PMID:28492532|PMID:31831025 10047814 CV191328 NM_000287.4(PEX6):c.2440C>T (p.Arg814Ter) variant DOID:0081433 Peroxisome biogenesis disorder 4B IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 4B PMID:10408779|PMID:19877282|PMID:21031596|PMID:25741868|PMID:28492532|PMID:31831025 10047814 CV191328 NM_000287.4(PEX6):c.2440C>T (p.Arg814Ter) variant DOID:905 Zellweger syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Zellweger Spectrum PMID:10408779|PMID:19877282|PMID:21031596|PMID:25741868|PMID:28492532|PMID:31831025 10047815 CV191329 NM_000287.4(PEX6):c.2436G>A (p.Arg812=) variant DOID:0050444 infantile Refsum disease IAGP D RGD:8554872 20221004 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:28492532 10047816 CV191331 NM_000336.3(SCNN1B):c.1731C>T (p.Thr577=) variant DOID:0080526 bronchiectasis 1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1 PMID:25741868|PMID:28492532 10047818 CV191341 NM_000512.5(GALNS):c.1462G>A (p.Val488Met) variant DOID:0111391 mucopolysaccharidosis IVA IAGP D RGD:8554872 20211109 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A PMID:25741868|PMID:28492532|PMID:30458289|PMID:31991612|PMID:34387910 10047819 CV191342 NM_000521.4(HEXB):c.1517_1529dup (p.Glu511fs) variant DOID:3323 Sandhoff disease IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Sandhoff disease PMID:18758829|PMID:28492532|PMID:29448188|PMID:7550345 10047821 CV191344 NM_000532.5(PCCB):c.1398+1G>T variant DOID:14701 propionic acidemia IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:15464417|PMID:16199547|PMID:25741868|PMID:28492532|PMID:32252659|PMID:8023851 10047822 CV191348 NM_000875.5(IGF1R):c.2700C>T (p.Asn900=) variant DOID:9000145 IGF1R-RELATED DISORDER IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Somatomedin-c resistance to PMID:25741868|PMID:28492532 10047823 CV191349 NM_000883.4(IMPDH1):c.1405+9A>G variant DOID:0110216 Leber congenital amaurosis 11 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 11 PMID:28492532 10047823 CV191349 NM_000883.4(IMPDH1):c.1405+9A>G variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant PMID:28492532 10047824 CV191350 NM_001348946.2(ABCB1):c.1236T>C (p.Gly412=) variant DOID:0110893 inflammatory bowel disease 13 IAGP D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: ABCB1-related condition PMID:25741868 10047825 CV191353 NM_001038.6(SCNN1A):c.1853G>T (p.Cys618Phe) variant DOID:0080527 bronchiectasis 2 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 2 PMID:10523338|PMID:11978598|PMID:16249274|PMID:24033266|PMID:25741868|PMID:28492532 10047825 CV191353 NM_001038.6(SCNN1A):c.1853G>T (p.Cys618Phe) variant DOID:9006963 Pseudohypoaldosteronism Type IB1, Autosomal Recessive IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Pseudohypoaldosteronism, type IB1, autosomal recessive PMID:10523338|PMID:11978598|PMID:16249274|PMID:24033266|PMID:25741868|PMID:28492532 10047826 CV191357 NM_001142800.2(EYS):c.2055T>A (p.Cys685Ter) variant DOID:0110384 retinitis pigmentosa 25 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 25 PMID:18836446|PMID:20333770|PMID:25741868|PMID:28492532 10047826 CV191357 NM_001142800.2(EYS):c.2055T>A (p.Cys685Ter) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:18836446|PMID:20333770|PMID:25741868|PMID:28492532 10047827 CV191367 NM_002180.3(IGHMBP2):c.2439G>A (p.Ala813=) variant DOID:0111064 autosomal recessive distal hereditary motor neuronopathy 1 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy, distal, autosomal recessive, 1 PMID:25741868|PMID:28492532 10047827 CV191367 NM_002180.3(IGHMBP2):c.2439G>A (p.Ala813=) variant DOID:10595 Charcot-Marie-Tooth disease IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:25741868|PMID:28492532 10047828 CV191369 NM_002334.4(LRP4):c.1551T>C (p.Ala517=) variant DOID:0090015 Cenani-Lenz syndactyly syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Cenani-Lenz syndactyly syndrome PMID:28492532 10047829 CV191370 NM_001365536.1(SCN9A):c.1975-3del variant DOID:0060170 generalized epilepsy with febrile seizures plus IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus PMID:28492532 10047829 CV191370 NM_001365536.1(SCN9A):c.1975-3del variant DOID:0070155 hereditary sensory and autonomic neuropathy type 2A IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY, TYPE IIA PMID:28492532 10047829 CV191370 NM_001365536.1(SCN9A):c.1975-3del variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:28492532 10047829 CV191370 NM_001365536.1(SCN9A):c.1975-3del variant DOID:0111297 familial febrile seizures IAGP D RGD:8554872 20190903 ClinVar ClinVar Annotator: match by term: Familial Febrile Seizures PMID:28492532 10047829 CV191370 NM_001365536.1(SCN9A):c.1975-3del variant DOID:0111537 paroxysmal extreme pain disorder IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: RECTAL PAIN, FAMILIAL PMID:28492532 10047829 CV191370 NM_001365536.1(SCN9A):c.1975-3del variant DOID:9002272 Small Fiber Neuropathy IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Small fiber neuropathy PMID:28492532 10047829 CV191370 NM_001365536.1(SCN9A):c.1975-3del variant DOID:9008482 Congenital Pain Insensitivity IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Congenital Indifference to Pain PMID:28492532 10047829 CV191370 NM_001365536.1(SCN9A):c.1975-3del variant DOID:9240 erythromelalgia IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Inherited Erythromelalgia PMID:28492532 10047830 CV191377 NM_003742.4(ABCB11):c.1331T>C (p.Val444Ala) variant DOID:0070222 progressive familial intrahepatic cholestasis 2 IAGP D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2 PMID:25741868|PMID:28492532 10047830 CV191377 NM_003742.4(ABCB11):c.1331T>C (p.Val444Ala) variant DOID:0070232 benign recurrent intrahepatic cholestasis 2 IAGP D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Benign recurrent intrahepatic cholestasis type 2 PMID:25741868|PMID:28492532 10047833 CV191382 NM_005045.4(RELN):c.1442-8T>C variant DOID:0060748 familial temporal lobe epilepsy 1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 PMID:25741868|PMID:28492532 10047833 CV191382 NM_005045.4(RELN):c.1442-8T>C variant DOID:0060902 Norman-Roberts syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Norman-Roberts syndrome PMID:25741868|PMID:28492532 10047834 CV191383 NM_001374353.1(GLI2):c.2997C>T (p.Asp999=) variant DOID:0110873 holoprosencephaly 9 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 9 PMID:25741868|PMID:28492532 10047835 CV191386 NM_001374353.1(GLI2):c.3539G>A (p.Gly1180Asp) variant DOID:0080328 Culler-Jones syndrome IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: GLI2-related disorder PMID:25741868|PMID:28492532 10047835 CV191386 NM_001374353.1(GLI2):c.3539G>A (p.Gly1180Asp) variant DOID:0110873 holoprosencephaly 9 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 9 PMID:25741868|PMID:28492532 10047836 CV191388 NM_001374353.1(GLI2):c.4577G>A (p.Arg1526His) variant DOID:0080328 Culler-Jones syndrome IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: GLI2-related disorder PMID:23408573|PMID:24744436|PMID:25741868|PMID:28492532|PMID:34921505 10047836 CV191388 NM_001374353.1(GLI2):c.4577G>A (p.Arg1526His) variant DOID:0110873 holoprosencephaly 9 IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 9 PMID:23408573|PMID:24744436|PMID:25741868|PMID:28492532|PMID:34921505 10047837 CV191390 NM_001374353.1(GLI2):c.2967C>T (p.Gly989=) variant DOID:0080328 Culler-Jones syndrome IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: GLI2-related disorder PMID:21204792|PMID:25741868|PMID:28492532 10047837 CV191390 NM_001374353.1(GLI2):c.2967C>T (p.Gly989=) variant DOID:0110873 holoprosencephaly 9 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 9 PMID:21204792|PMID:25741868|PMID:28492532 10047838 CV191391 NM_001374353.1(GLI2):c.2889C>T (p.Ser963=) variant DOID:0110873 holoprosencephaly 9 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 9 PMID:25741868|PMID:28492532 10047839 CV191392 NM_001374353.1(GLI2):c.4282C>T (p.Leu1428Phe) variant DOID:0110873 holoprosencephaly 9 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 9 PMID:1756909|PMID:17569090|PMID:19223936|PMID:20685056|PMID:20685856|PMID:22967285|PMID:23408573|PMID:24744436|PMID:25741868|PMID:28492532 10047840 CV191393 NM_001374353.1(GLI2):c.4281G>A (p.Met1427Ile) variant DOID:0110873 holoprosencephaly 9 IAGP D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 9 PMID:17096318|PMID:19223936|PMID:20685856|PMID:22967285|PMID:23408573|PMID:24744436|PMID:25741868|PMID:28492532 10047841 CV191394 NM_001374353.1(GLI2):c.4003A>G (p.Met1335Val) variant DOID:0110873 holoprosencephaly 9 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 9 PMID:25741868|PMID:28492532 10047842 CV191414 NM_014956.5(CEP164):c.1430A>G (p.His477Arg) variant DOID:0111123 nephronophthisis 15 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Nephronophthisis 15 PMID:25741868|PMID:28492532 10047843 CV191418 NM_001134831.2(AHI1):c.1791C>T (p.Ile597=) variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:25741868|PMID:28492532 10047843 CV191418 NM_001134831.2(AHI1):c.1791C>T (p.Ile597=) variant DOID:0110998 Joubert syndrome 3 IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Joubert syndrome 3 PMID:25741868|PMID:28492532 10047844 CV191424 NM_022367.4(SEMA4A):c.1529G>A (p.Arg510Gln) variant DOID:0110357 retinitis pigmentosa 35 IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 35 PMID:25741868|PMID:28492532 10047844 CV191424 NM_022367.4(SEMA4A):c.1529G>A (p.Arg510Gln) variant DOID:0111017 cone-rod dystrophy 10 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 10 PMID:25741868|PMID:28492532 10047844 CV191424 NM_022367.4(SEMA4A):c.1529G>A (p.Arg510Gln) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive PMID:25741868|PMID:28492532 10047844 CV191424 NM_022367.4(SEMA4A):c.1529G>A (p.Arg510Gln) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532 10047845 CV191426 NM_022436.3(ABCG5):c.1763-7T>G variant DOID:0090019 sitosterolemia IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Sitosterolemia PMID:25741868|PMID:28492532|PMID:32088153 10047846 CV191427 NM_024312.5(GNPTAB):c.1931C>T (p.Thr644Ile) variant DOID:0080070 mucolipidosis II alpha/beta IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Mucolipidosis type II PMID:25741868|PMID:28492532 10047846 CV191427 NM_024312.5(GNPTAB):c.1931C>T (p.Thr644Ile) variant DOID:0080071 mucolipidosis III alpha/beta IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy PMID:25741868|PMID:28492532 10047846 CV191427 NM_024312.5(GNPTAB):c.1931C>T (p.Thr644Ile) variant DOID:3343 glycoproteinosis IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy PMID:25741868|PMID:28492532 10047847 CV191428 NM_024312.5(GNPTAB):c.1906dup (p.Arg636fs) variant DOID:0080070 mucolipidosis II alpha/beta IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mucolipidosis type II PMID:19617216|PMID:25107912|PMID:25741868|PMID:28492532|PMID:30882951 10047849 CV191436 NM_031220.4(PITPNM3):c.1625-9G>A variant DOID:0111010 cone-rod dystrophy 5 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 5 PMID:25741868|PMID:28492532 10047850 CV191440 NM_001177316.2(SLC34A3):c.1538A>T (p.Glu513Val) variant DOID:0050947 hereditary hypophosphatemic rickets with hypercalciuria IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: HYPERCALCIURIC RICKETS PMID:24033266|PMID:25741868|PMID:28492532 10047851 CV191441 NM_001177316.2(SLC34A3):c.1585A>T (p.Ile529Phe) variant DOID:0050947 hereditary hypophosphatemic rickets with hypercalciuria IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: SLC34A3-related condition PMID:25296721|PMID:25741868|PMID:28492532|PMID:34805638|PMID:36596813 10047852 CV191442 NM_001177316.2(SLC34A3):c.1454G>A (p.Arg485His) variant DOID:0050947 hereditary hypophosphatemic rickets with hypercalciuria IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: SLC34A3-related condition PMID:16358214|PMID:25296721|PMID:25741868|PMID:28492532|PMID:34805638|PMID:36596813 10047853 CV191443 NM_001370298.3(FGD4):c.1971C>T (p.Ile657=) variant DOID:0050541 Charcot-Marie-Tooth disease type 4 IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:25741868|PMID:26467025|PMID:28492532 10047853 CV191443 NM_001370298.3(FGD4):c.1971C>T (p.Ile657=) variant DOID:0110192 Charcot-Marie-Tooth disease type 4H IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 4H PMID:25741868|PMID:26467025|PMID:28492532 10047853 CV191443 NM_001370298.3(FGD4):c.1971C>T (p.Ile657=) variant DOID:10595 Charcot-Marie-Tooth disease IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:25741868|PMID:26467025|PMID:28492532 10047853 CV191443 NM_001370298.3(FGD4):c.1971C>T (p.Ile657=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 10047854 CV191446 NM_153717.3(EVC):c.1855G>A (p.Val619Ile) variant DOID:12714 Ellis-Van Creveld syndrome IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld Syndrome PMID:25741868|PMID:28492532 10047855 CV191448 NM_172364.5(CACNA2D4):c.1359C>T (p.Tyr453=) variant DOID:0081023 retinal cone dystrophy 4 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Retinal cone dystrophy 4 PMID:28492532 10047858 CV191454 NM_001164508.2(NEB):c.22904G>A (p.Gly7635Glu) variant DOID:0110928 nemaline myopathy 2 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 2 PMID:25741868|PMID:26467025|PMID:28492532 10047859 CV191460 NM_001164508.2(NEB):c.23055G>A (p.Gly7685=) variant DOID:0070336 arthrogryposis multiplex congenita-6 IAGP D RGD:8554872 20250821 ClinVar ClinVar Annotator: match by term: NEB-related disorder PMID:28492532 10047859 CV191460 NM_001164508.2(NEB):c.23055G>A (p.Gly7685=) variant DOID:0110928 nemaline myopathy 2 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 2 PMID:28492532 10047860 CV191466 NM_182961.4(SYNE1):c.24952C>T (p.Leu8318Phe) variant DOID:0070249 autosomal dominant Emery-Dreifuss muscular dystrophy 4 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant PMID:25741868|PMID:26467025|PMID:28492532 10047860 CV191466 NM_182961.4(SYNE1):c.24952C>T (p.Leu8318Phe) variant DOID:0111618 autosomal recessive spinocerebellar ataxia 8 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 PMID:25741868|PMID:26467025|PMID:28492532 10047860 CV191466 NM_182961.4(SYNE1):c.24952C>T (p.Leu8318Phe) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 10047861 CV191471 NM_001164508.2(NEB):c.23599A>C (p.Lys7867Gln) variant DOID:0110928 nemaline myopathy 2 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 2 PMID:25741868|PMID:26467025|PMID:28492532 10047863 CV191475 NM_001164508.2(NEB):c.23776C>T (p.Pro7926Ser) variant DOID:0070336 arthrogryposis multiplex congenita-6 IAGP D RGD:8554872 20250821 ClinVar ClinVar Annotator: match by term: NEB-related disorder PMID:24033266|PMID:25356899|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32420686 10047863 CV191475 NM_001164508.2(NEB):c.23776C>T (p.Pro7926Ser) variant DOID:0110928 nemaline myopathy 2 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 2 PMID:24033266|PMID:25356899|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32420686 10047863 CV191475 NM_001164508.2(NEB):c.23776C>T (p.Pro7926Ser) variant DOID:630 genetic disease IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25356899|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32420686 10047865 CV191480 NM_000018.4(ACADVL):c.1357C>T (p.Arg453Ter) variant DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:11590124|PMID:17999356|PMID:25741868|PMID:26385305|PMID:28492532|PMID:9973285 10047866 CV191481 NM_000071.3(CBS):c.1257G>A (p.Leu419=) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10047866 CV191481 NM_000071.3(CBS):c.1257G>A (p.Leu419=) variant DOID:65 connective tissue disease IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 10047866 CV191481 NM_000071.3(CBS):c.1257G>A (p.Leu419=) variant DOID:9263 homocystinuria IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:25741868|PMID:28492532 10047869 CV191485 NM_000153.4(GALC):c.1543G>A (p.Glu515Lys) variant DOID:10587 Krabbe disease IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency PMID:25741868|PMID:27638593|PMID:28492532|PMID:30777126 10047870 CV191486 NM_000180.4(GUCY2D):c.2577G>T (p.Pro859=) variant DOID:0110078 Leber congenital amaurosis 1 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: AMAUROSIS CONGENITA OF LEBER I PMID:24033266|PMID:25741868|PMID:28492532 10047870 CV191486 NM_000180.4(GUCY2D):c.2577G>T (p.Pro859=) variant DOID:0111011 cone-rod dystrophy 6 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 6 PMID:24033266|PMID:25741868|PMID:28492532 10047870 CV191486 NM_000180.4(GUCY2D):c.2577G>T (p.Pro859=) variant DOID:14791 Leber congenital amaurosis IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Retinal blindness, congenital PMID:24033266|PMID:25741868|PMID:28492532 10047872 CV191492 NM_000334.4(SCN4A):c.2748C>G (p.Asn916Lys) variant DOID:14451 hyperkalemic periodic paralysis IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Hyperkalemic Periodic Paralysis Type 1 PMID:26467025|PMID:28492532 10047872 CV191492 NM_000334.4(SCN4A):c.2748C>G (p.Asn916Lys) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532 10047874 CV191497 NM_000443.4(ABCB4):c.1584G>C (p.Glu528Asp) variant DOID:0070223 progressive familial intrahepatic cholestasis 3 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: MDR3 deficiency PMID:12891548|PMID:15077010|PMID:16696816|PMID:18083082|PMID:22331132|PMID:23533021|PMID:25741868|PMID:28492532 10047874 CV191497 NM_000443.4(ABCB4):c.1584G>C (p.Glu528Asp) variant DOID:0070229 intrahepatic cholestasis of pregnancy 3 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Cholestasis, intrahepatic, of pregnancy, 3 PMID:12891548|PMID:15077010|PMID:16696816|PMID:18083082|PMID:22331132|PMID:23533021|PMID:25741868|PMID:28492532 10047875 CV191498 NM_000466.3(PEX1):c.2271G>C (p.Leu757Phe) variant DOID:905 Zellweger syndrome IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Zellweger Spectrum PMID:25741868|PMID:28492532 10047878 CV191521 NM_001142800.2(EYS):c.2194C>T (p.Gln732Ter) variant DOID:0110384 retinitis pigmentosa 25 IAGP D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 25 PMID:18836446|PMID:20333770|PMID:23591405|PMID:25741868|PMID:28492532|PMID:34906470 10047878 CV191521 NM_001142800.2(EYS):c.2194C>T (p.Gln732Ter) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:18836446|PMID:20333770|PMID:23591405|PMID:25741868|PMID:28492532|PMID:34906470 10047878 CV191521 NM_001142800.2(EYS):c.2194C>T (p.Gln732Ter) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:18836446|PMID:20333770|PMID:23591405|PMID:25741868|PMID:28492532|PMID:34906470 10047879 CV191522 NM_001165963.4(SCN1A):c.2421C>T (p.Phe807=) variant DOID:0111183 familial hemiplegic migraine 3 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Migraine, familial hemiplegic, 3 PMID:25741868|PMID:28492532 10047879 CV191522 NM_001165963.4(SCN1A):c.2421C>T (p.Phe807=) variant DOID:0111294 generalized epilepsy with febrile seizures plus 2 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 2 PMID:25741868|PMID:28492532 10047879 CV191522 NM_001165963.4(SCN1A):c.2421C>T (p.Phe807=) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:25741868|PMID:28492532 10047879 CV191522 NM_001165963.4(SCN1A):c.2421C>T (p.Phe807=) variant DOID:1826 epilepsy IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:25741868|PMID:28492532 10047879 CV191522 NM_001165963.4(SCN1A):c.2421C>T (p.Phe807=) variant DOID:630 genetic disease IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10047880 CV187805 NM_001165963.4(SCN1A):c.2584C>T (p.Arg862Ter) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:17347258|PMID:18930999|PMID:19522081|PMID:23195492|PMID:24168886|PMID:25459968|PMID:25741868|PMID:26096185|PMID:27197941|PMID:28492532|PMID:29056246 10047880 CV187805 NM_001165963.4(SCN1A):c.2584C>T (p.Arg862Ter) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:17347258|PMID:18930999|PMID:19522081|PMID:23195492|PMID:24168886|PMID:25459968|PMID:25741868|PMID:26096185|PMID:27197941|PMID:28492532|PMID:29056246 10047881 CV191525 NM_001242957.3(MAK):c.1715T>C (p.Ile572Thr) variant DOID:0110380 retinitis pigmentosa 62 IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 62 PMID:25741868|PMID:28492532 10047881 CV191525 NM_001242957.3(MAK):c.1715T>C (p.Ile572Thr) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive PMID:25741868|PMID:28492532 10047882 CV191531 NM_002180.3(IGHMBP2):c.2636C>A (p.Thr879Lys) variant DOID:0110171 Charcot-Marie-Tooth disease axonal type 2S IAGP D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2S PMID:11528396|PMID:15797190|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10047882 CV191531 NM_002180.3(IGHMBP2):c.2636C>A (p.Thr879Lys) variant DOID:0111064 autosomal recessive distal hereditary motor neuronopathy 1 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy, distal, autosomal recessive, 1 PMID:11528396|PMID:15797190|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10047882 CV191531 NM_002180.3(IGHMBP2):c.2636C>A (p.Thr879Lys) variant DOID:0111198 autosomal dominant distal hereditary motor neuronopathy IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy PMID:11528396|PMID:15797190|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10047882 CV191531 NM_002180.3(IGHMBP2):c.2636C>A (p.Thr879Lys) variant DOID:10595 Charcot-Marie-Tooth disease IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:11528396|PMID:15797190|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10047883 CV191533 NM_002180.3(IGHMBP2):c.2730C>G (p.Gly910=) variant DOID:0110171 Charcot-Marie-Tooth disease axonal type 2S IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2S PMID:25741868|PMID:28492532 10047883 CV191533 NM_002180.3(IGHMBP2):c.2730C>G (p.Gly910=) variant DOID:0111064 autosomal recessive distal hereditary motor neuronopathy 1 IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy, distal, autosomal recessive, 1 PMID:25741868|PMID:28492532 10047883 CV191533 NM_002180.3(IGHMBP2):c.2730C>G (p.Gly910=) variant DOID:10595 Charcot-Marie-Tooth disease IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:25741868|PMID:28492532 10047883 CV191533 NM_002180.3(IGHMBP2):c.2730C>G (p.Gly910=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10047884 CV191536 NM_001127671.2(LIFR):c.1899A>G (p.Ile633Met) variant DOID:65 connective tissue disease IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 10047884 CV191536 NM_001127671.2(LIFR):c.1899A>G (p.Ile633Met) variant DOID:9004577 Stuve-Wiedemann Syndrome IAGP D RGD:8554872 20220816 ClinVar ClinVar Annotator: match by term: Stuve-Wiedemann syndrome PMID:25741868|PMID:28492532 10047884 CV191536 NM_001127671.2(LIFR):c.1899A>G (p.Ile633Met) variant DOID:9008909 Stuve-Wiedemann Syndrome 1 IAGP D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Stüve-Wiedemann syndrome 1 PMID:25741868|PMID:28492532 10047885 CV191537 NM_002334.4(LRP4):c.1915+6C>T variant DOID:0090015 Cenani-Lenz syndactyly syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Cenani-Lenz syndactyly syndrome PMID:28492532 10047886 CV191541 NM_002739.5(PRKCG):c.1497T>C (p.Phe499=) variant DOID:0050964 spinocerebellar ataxia 14 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 14 PMID:25741868 10047888 CV191544 NM_003482.4(KMT2D):c.4168dup (p.Ala1390fs) variant DOID:0060473 Kabuki syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Kabuki syndrome PMID:22126750|PMID:23320472|PMID:25741868|PMID:28492532|PMID:30287924 10047888 CV191544 NM_003482.4(KMT2D):c.4168dup (p.Ala1390fs) variant DOID:9001255 Kabuki Syndrome 1 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:22126750|PMID:23320472|PMID:25741868|PMID:28492532|PMID:30287924 10047890 CV191546 NM_003742.4(ABCB11):c.1605C>T (p.Ala535=) variant DOID:0070222 progressive familial intrahepatic cholestasis 2 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2 PMID:23279303|PMID:28492532 10047891 CV191547 NM_004006.3(DMD):c.1704+1G>A variant DOID:11723 Duchenne muscular dystrophy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:16199547|PMID:16770791|PMID:23756440|PMID:25007885|PMID:25612904|PMID:27593222|PMID:28116794|PMID:28492532 10047894 CV191552 NM_005609.4(PYGM):c.1768+1G>A variant DOID:2746 glycogen storage disease V IAGP D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:10450796|PMID:16199547|PMID:16786513|PMID:22250184|PMID:25741868|PMID:2703328|PMID:28492532|PMID:30415384|PMID:8279469|PMID:8316268|PMID:9152836 10047894 CV191552 NM_005609.4(PYGM):c.1768+1G>A variant DOID:630 genetic disease IAGP D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10450796|PMID:16199547|PMID:16786513|PMID:22250184|PMID:25741868|PMID:2703328|PMID:28492532|PMID:30415384|PMID:8279469|PMID:8316268|PMID:9152836 10047896 CV191556 NM_006019.4(TCIRG1):c.1672G>C (p.Val558Leu) variant DOID:0110942 autosomal recessive osteopetrosis 1 IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Marble bones autosomal recessive PMID:25741868|PMID:28492532 10047896 CV191556 NM_006019.4(TCIRG1):c.1672G>C (p.Val558Leu) variant DOID:4254 osteosclerosis IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteosclerosis PMID:25741868|PMID:28492532 10047897 CV191558 NM_206965.2(FTCD):c.1607T>A (p.Leu536Ter) variant DOID:0111679 glutamate formiminotransferase deficiency IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Glutamate formiminotransferase deficiency PMID:25741868|PMID:28492532|PMID:29178637|PMID:30740726|PMID:31589614 10047899 CV191567 NM_014425.5(INVS):c.2509C>T (p.Gln837Ter) variant DOID:12712 nephronophthisis IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872123|PMID:28492532 10047900 CV191579 NM_016156.6(MTMR2):c.1634A>G (p.Asn545Ser) variant DOID:0050541 Charcot-Marie-Tooth disease type 4 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:11354824|PMID:12398840|PMID:20981092|PMID:25741868|PMID:26467025|PMID:27884173|PMID:28492532 10047900 CV191579 NM_016156.6(MTMR2):c.1634A>G (p.Asn545Ser) variant DOID:0110191 Charcot-Marie-Tooth disease type 4B1 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B1 PMID:11354824|PMID:12398840|PMID:20981092|PMID:25741868|PMID:26467025|PMID:27884173|PMID:28492532 10047904 CV191592 NM_022369.4(STRA6):c.1223G>A (p.Arg408Gln) variant DOID:0111807 syndromic microphthalmia 9 IAGP D RGD:8554872 20200428 ClinVar ClinVar Annotator: match by term: Microphthalmia syndromic 9 PMID:28492532 10047905 CV191594 NM_024649.5(BBS1):c.1349G>A (p.Arg450Gln) variant DOID:0110123 Bardet-Biedl syndrome 1 IAGP D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 PMID:25741868|PMID:26467025|PMID:28492532 10047905 CV191594 NM_024649.5(BBS1):c.1349G>A (p.Arg450Gln) variant DOID:1935 Bardet-Biedl syndrome IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:25741868|PMID:26467025|PMID:28492532 10047906 CV191601 NM_001370298.3(FGD4):c.2070C>G (p.Ala690=) variant DOID:0050541 Charcot-Marie-Tooth disease type 4 IAGP D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:25741868|PMID:26467025|PMID:28492532 10047906 CV191601 NM_001370298.3(FGD4):c.2070C>G (p.Ala690=) variant DOID:0110192 Charcot-Marie-Tooth disease type 4H IAGP D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 4H PMID:25741868|PMID:26467025|PMID:28492532 10047906 CV191601 NM_001370298.3(FGD4):c.2070C>G (p.Ala690=) variant DOID:10595 Charcot-Marie-Tooth disease IAGP D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:25741868|PMID:26467025|PMID:28492532 10047906 CV191601 NM_001370298.3(FGD4):c.2070C>G (p.Ala690=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 10047907 CV191603 NM_001379081.2(FREM1):c.2274C>A (p.Gly758=) variant DOID:9003259 Marles Greenberg Persaud Syndrome IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Manitoba Trichoanal syndrome PMID:25741868|PMID:28492532 10047908 CV191605 NM_147127.5(EVC2):c.2263C>T (p.Gln755Ter) variant DOID:12714 Ellis-Van Creveld syndrome IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:19810119|PMID:19876929|PMID:25525159|PMID:25741868|PMID:28492532 10047909 CV191615 NM_001164508.2(NEB):c.24665_24666del (p.Asn8221_Phe8222insTer) variant DOID:0110928 nemaline myopathy 2 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 2 PMID:25205138|PMID:25356970|PMID:28492532 10047909 CV191615 NM_001164508.2(NEB):c.24665_24666del (p.Asn8221_Phe8222insTer) variant DOID:630 genetic disease IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25205138|PMID:25356970|PMID:28492532 10047910 CV191619 NM_000088.4(COL1A1):c.959G>A (p.Gly320Asp) variant DOID:0110334 osteogenesis imperfecta type 1 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type I PMID:17078022|PMID:19344236|PMID:27509835|PMID:27519266|PMID:28492532|PMID:7695699|PMID:8218237|PMID:9016532 10047912 CV191624 NM_000168.6(GLI3):c.2826G>C (p.Pro942=) variant DOID:1148 polydactyly IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Polydactyly PMID:25741868|PMID:28492532 10047912 CV191624 NM_000168.6(GLI3):c.2826G>C (p.Pro942=) variant DOID:14761 Greig cephalopolysyndactyly syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome PMID:25741868|PMID:28492532 10047912 CV191624 NM_000168.6(GLI3):c.2826G>C (p.Pro942=) variant DOID:9248 Pallister-Hall syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Pallister-Hall syndrome PMID:25741868|PMID:28492532 10047913 CV191625 NM_000168.6(GLI3):c.3664C>T (p.Pro1222Ser) variant DOID:1148 polydactyly IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Polydactyly PMID:25741868|PMID:28492532 10047913 CV191625 NM_000168.6(GLI3):c.3664C>T (p.Pro1222Ser) variant DOID:14761 Greig cephalopolysyndactyly syndrome IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome PMID:25741868|PMID:28492532 10047913 CV191625 NM_000168.6(GLI3):c.3664C>T (p.Pro1222Ser) variant DOID:630 genetic disease IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10047913 CV191625 NM_000168.6(GLI3):c.3664C>T (p.Pro1222Ser) variant DOID:9248 Pallister-Hall syndrome IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Pallister-Hall syndrome PMID:25741868|PMID:28492532 10047914 CV191626 NM_000168.6(GLI3):c.2835G>C (p.Leu945=) variant DOID:1148 polydactyly IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Polydactyly PMID:25741868|PMID:28492532 10047914 CV191626 NM_000168.6(GLI3):c.2835G>C (p.Leu945=) variant DOID:14761 Greig cephalopolysyndactyly syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Greig cephalopolysyndactyly syndrome PMID:25741868|PMID:28492532 10047914 CV191626 NM_000168.6(GLI3):c.2835G>C (p.Leu945=) variant DOID:9248 Pallister-Hall syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Pallister-Hall syndrome PMID:25741868|PMID:28492532 10047917 CV191634 NM_000392.5(ABCC2):c.1967+1G>A variant DOID:12308 Dubin-Johnson syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: ABCC2-related condition PMID:15870973|PMID:28492532|PMID:29499989|PMID:9878557 10047917 CV191634 NM_000392.5(ABCC2):c.1967+1G>A variant DOID:2738 pseudoxanthoma elasticum IAGP D RGD:8554872 20250723 ClinVar ClinVar Annotator: match by term: Autosomal recessive inherited pseudoxanthoma elasticum PMID:15870973|PMID:28492532|PMID:29499989|PMID:9878557 10047918 CV191636 NM_000440.3(PDE6A):c.1926+1G>A variant DOID:0110379 retinitis pigmentosa 43 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 43 PMID:16199547|PMID:22128245|PMID:23847139|PMID:25741868|PMID:28492532|PMID:31964843|PMID:32531858|PMID:33057649|PMID:7493036 10047918 CV191636 NM_000440.3(PDE6A):c.1926+1G>A variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:16199547|PMID:22128245|PMID:23847139|PMID:25741868|PMID:28492532|PMID:31964843|PMID:32531858|PMID:33057649|PMID:7493036 10047918 CV191636 NM_000440.3(PDE6A):c.1926+1G>A variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16199547|PMID:22128245|PMID:23847139|PMID:25741868|PMID:28492532|PMID:31964843|PMID:32531858|PMID:33057649|PMID:7493036 10047919 CV191649 NM_001330078.2(NRXN1):c.2507C>T (p.Ala836Val) variant DOID:0111332 Pitt-Hopkins-like syndrome 2 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 PMID:25741868|PMID:28492532 10047919 CV191649 NM_001330078.2(NRXN1):c.2507C>T (p.Ala836Val) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10047921 CV191655 NM_001297.5(CNGB1):c.1122-15C>T variant DOID:0110402 retinitis pigmentosa 45 IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 45 PMID:25741868|PMID:28492532 10047921 CV191655 NM_001297.5(CNGB1):c.1122-15C>T variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532 10047924 CV191667 NM_003742.4(ABCB11):c.1791G>T (p.Val597=) variant DOID:0070222 progressive familial intrahepatic cholestasis 2 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2 PMID:25741868|PMID:28492532 10047925 CV191668 NM_003742.4(ABCB11):c.1772A>G (p.Asn591Ser) variant DOID:0070222 progressive familial intrahepatic cholestasis 2 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2 PMID:25741868|PMID:28492532 10047927 CV191674 NM_004463.3(FGD1):c.2268C>T (p.Cys756=) variant DOID:630 genetic disease IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10047928 CV191683 NM_005529.7(HSPG2):c.1998+9C>T variant DOID:0090005 Schwartz-Jampel syndrome 1 IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Schwartz-Jampel syndrome PMID:25741868|PMID:26467025|PMID:28492532 10047928 CV191683 NM_005529.7(HSPG2):c.1998+9C>T variant DOID:65 connective tissue disease IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:26467025|PMID:28492532 10047928 CV191683 NM_005529.7(HSPG2):c.1998+9C>T variant DOID:9005084 Kniest Like Dysplasia Lethal IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Lethal Kniest-like syndrome PMID:25741868|PMID:26467025|PMID:28492532 10047930 CV191693 NM_014141.6(CNTNAP2):c.2356G>T (p.Val786Leu) variant DOID:0060488 Pitt-Hopkins syndrome IAGP D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome PMID:25741868|PMID:28492532 10047930 CV191693 NM_014141.6(CNTNAP2):c.2356G>T (p.Val786Leu) variant DOID:0090130 cortical dysplasia-focal epilepsy syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: PITT-HOPKINS-LIKE SYNDROME 1 PMID:25741868|PMID:28492532 10047930 CV191693 NM_014141.6(CNTNAP2):c.2356G>T (p.Val786Leu) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10047933 CV191704 NM_015272.5(RPGRIP1L):c.2030C>T (p.Thr677Ile) variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 10047933 CV191704 NM_015272.5(RPGRIP1L):c.2030C>T (p.Thr677Ile) variant DOID:0050778 Meckel syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:28492532 10047933 CV191704 NM_015272.5(RPGRIP1L):c.2030C>T (p.Thr677Ile) variant DOID:0070115 Meckel syndrome 1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Dysencephalia splachnocystica PMID:28492532 10047933 CV191704 NM_015272.5(RPGRIP1L):c.2030C>T (p.Thr677Ile) variant DOID:0110980 Joubert syndrome 1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 10047934 CV191709 NM_017780.4(CHD7):c.3697G>A (p.Gly1233Ser) variant DOID:0050834 CHARGE syndrome IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Hall-Hittner syndrome PMID:24033266|PMID:25741868|PMID:28492532 10047934 CV191709 NM_017780.4(CHD7):c.3697G>A (p.Gly1233Ser) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 10047936 CV191726 NM_025114.4(CEP290):c.1522+6C>T variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:25741868|PMID:28492532 10047936 CV191726 NM_025114.4(CEP290):c.1522+6C>T variant DOID:0070118 Meckel syndrome 4 IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 4 PMID:25741868|PMID:28492532 10047936 CV191726 NM_025114.4(CEP290):c.1522+6C>T variant DOID:0110136 Bardet-Biedl syndrome 14 IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 14 PMID:25741868|PMID:28492532 10047936 CV191726 NM_025114.4(CEP290):c.1522+6C>T variant DOID:0110291 Leber congenital amaurosis 10 IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 10 PMID:25741868|PMID:28492532 10047936 CV191726 NM_025114.4(CEP290):c.1522+6C>T variant DOID:0111000 Joubert syndrome 5 IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Joubert syndrome 5 PMID:25741868|PMID:28492532 10047936 CV191726 NM_025114.4(CEP290):c.1522+6C>T variant DOID:9008709 Senior-Loken Syndrome 6 IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 6 PMID:25741868|PMID:28492532 10047937 CV191728 NM_031471.6(FERMT3):c.1917G>A (p.Thr639=) variant DOID:0110912 leukocyte adhesion deficiency 3 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:25741868|PMID:28492532 10047939 CV191730 NM_001349338.3(FOXP1):c.1240dup (p.Leu414fs) variant DOID:0111331 intellectual disability-severe speech delay-mild dysmorphism syndrome IAGP D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Intellectual disability-severe speech delay-mild dysmorphism syndrome PMID:25741868|PMID:30564305 10047939 CV191730 NM_001349338.3(FOXP1):c.1240dup (p.Leu414fs) variant DOID:630 genetic disease IAGP D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:30564305 10047939 CV191730 NM_001349338.3(FOXP1):c.1240dup (p.Leu414fs) variant DOID:9008582 Developmental Disease IAGP D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental disorder PMID:25741868|PMID:30564305 10047940 CV191737 NM_207361.6(FREM2):c.7520-5dup variant DOID:0111717 isolated cryptophthalmia IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Isolated cryptophthalmia PMID:25741868|PMID:28492532 10047941 CV191738 NM_207361.6(FREM2):c.7520-6_7520-5dup variant DOID:0111717 isolated cryptophthalmia IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Isolated cryptophthalmia PMID:25741868|PMID:28492532 10047942 CV191740 NM_213599.3(ANO5):c.1520del (p.Phe507fs) variant DOID:0110274 autosomal recessive limb-girdle muscular dystrophy IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy PMID:21186264|PMID:22402862|PMID:22980763|PMID:23041008|PMID:23193613|PMID:23606453|PMID:25741868|PMID:25891276|PMID:28492532|PMID:30919934 10047942 CV191740 NM_213599.3(ANO5):c.1520del (p.Phe507fs) variant DOID:0110284 autosomal recessive limb-girdle muscular dystrophy type 2L IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2L PMID:21186264|PMID:22402862|PMID:22980763|PMID:23041008|PMID:23193613|PMID:23606453|PMID:25741868|PMID:25891276|PMID:28492532|PMID:30919934 10047942 CV191740 NM_213599.3(ANO5):c.1520del (p.Phe507fs) variant DOID:0111533 gnathodiaphyseal dysplasia IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Gnathodiaphyseal dysplasia PMID:21186264|PMID:22402862|PMID:22980763|PMID:23041008|PMID:23193613|PMID:23606453|PMID:25741868|PMID:25891276|PMID:28492532|PMID:30919934 10047943 CV191741 NM_001164508.2(NEB):c.25542C>T (p.Thr8514=) variant DOID:0110928 nemaline myopathy 2 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 2 PMID:25741868|PMID:26467025|PMID:28492532 10047945 CV191748 NM_000038.6(APC):c.4348C>T (p.Arg1450Ter) variant DOID:0050424 familial adenomatous polyposis IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Familial multiple polyposis syndrome PMID:1316610|PMID:15311282|PMID:17293347|PMID:19036155|PMID:20223039|PMID:20924072|PMID:21110124|PMID:22135120|PMID:23561487|PMID:25741868|PMID:26446593|PMID:26613750|PMID:27081525|PMID:28492532|PMID:29368261|PMID:35189564|PMID:8103406|PMID:8381579|PMID:8730280|PMID:8990002|PMID:9824584|PMID:9950360 10047945 CV191748 NM_000038.6(APC):c.4348C>T (p.Arg1450Ter) variant DOID:0080409 familial adenomatous polyposis 1 IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:1316610|PMID:15311282|PMID:17293347|PMID:19036155|PMID:20223039|PMID:20924072|PMID:21110124|PMID:22135120|PMID:23561487|PMID:25741868|PMID:26446593|PMID:26613750|PMID:27081525|PMID:28492532|PMID:29368261|PMID:35189564|PMID:8103406|PMID:8381579|PMID:8730280|PMID:8990002|PMID:9824584|PMID:9950360 10047945 CV191748 NM_000038.6(APC):c.4348C>T (p.Arg1450Ter) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:1316610|PMID:15311282|PMID:17293347|PMID:19036155|PMID:20223039|PMID:20924072|PMID:21110124|PMID:22135120|PMID:23561487|PMID:25741868|PMID:26446593|PMID:26613750|PMID:27081525|PMID:28492532|PMID:29368261|PMID:35189564|PMID:8103406|PMID:8381579|PMID:8730280|PMID:8990002|PMID:9824584|PMID:9950360 10047947 CV191752 NM_000096.4(CP):c.2662-12T>C variant DOID:0050711 aceruloplasminemia IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Deficiency of ferroxidase PMID:25741868|PMID:28492532 10047948 CV191755 NM_000275.3(OCA2):c.1752C>T (p.His584=) variant DOID:0070096 oculocutaneous albinism type II IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Tyrosinase-positive oculocutaneous albinism PMID:25741868|PMID:28492532 10047949 CV191756 NM_000282.4(PCCA):c.1429+7A>G variant DOID:14701 propionic acidemia IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:25741868|PMID:28492532 10047950 CV191759 NM_000404.4(GLB1):c.1768C>T (p.Arg590Cys) variant DOID:0080502 GM1 gangliosidosis type 1 IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Infantile GM1 gangliosidosis PMID:16941474|PMID:17309651|PMID:17664528|PMID:23430803|PMID:25326635|PMID:25741868|PMID:28492532|PMID:37673932 10047950 CV191759 NM_000404.4(GLB1):c.1768C>T (p.Arg590Cys) variant DOID:0111392 mucopolysaccharidosis type IVB IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-B PMID:16941474|PMID:17309651|PMID:17664528|PMID:23430803|PMID:25326635|PMID:25741868|PMID:28492532|PMID:37673932 10047950 CV191759 NM_000404.4(GLB1):c.1768C>T (p.Arg590Cys) variant DOID:3322 GM1 gangliosidosis IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Beta galactosidase 1 deficiency PMID:16941474|PMID:17309651|PMID:17664528|PMID:23430803|PMID:25326635|PMID:25741868|PMID:28492532|PMID:37673932 10047951 CV191766 NM_000466.3(PEX1):c.2584-11_2584-10del variant DOID:0080476 peroxisome biogenesis disorder 1A IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) PMID:28492532 10047951 CV191766 NM_000466.3(PEX1):c.2584-11_2584-10del variant DOID:9006420 Zellweger Leukodystrophy IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Zellweger leukodystrophy PMID:28492532 10047951 CV191766 NM_000466.3(PEX1):c.2584-11_2584-10del variant DOID:905 Zellweger syndrome IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Zellweger syndrome PMID:28492532 10047952 CV191769 NM_000541.5(SAG):c.1207G>A (p.Val403Ile) variant DOID:0110712 Oguchi disease-1 IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Oguchi disease 1 PMID:25741868|PMID:28492532 10047952 CV191769 NM_000541.5(SAG):c.1207G>A (p.Val403Ile) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532 10047952 CV191769 NM_000541.5(SAG):c.1207G>A (p.Val403Ile) variant DOID:8498 hereditary night blindness IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Oguchi disease PMID:25741868|PMID:28492532 10047952 CV191769 NM_000541.5(SAG):c.1207G>A (p.Val403Ile) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532 10047953 CV191773 NM_000875.5(IGF1R):c.3129G>A (p.Glu1043=) variant DOID:9000145 IGF1R-RELATED DISORDER IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Somatomedin-c resistance to PMID:25741868|PMID:28492532 10047954 CV191775 NM_001083961.2(WDR62):c.2016C>T (p.Asp672=) variant DOID:0070293 primary autosomal recessive microcephaly 2 with or without cortical malformations IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Microcephaly 2, primary, autosomal recessive, with or without cortical malformations PMID:25741868|PMID:28492532 10047955 CV191778 NM_001142800.2(EYS):c.2500G>A (p.Val834Ile) variant DOID:0110384 retinitis pigmentosa 25 IAGP D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 25 PMID:20537394|PMID:28492532 10047956 CV191781 NM_001277115.2(DNAH11):c.3237T>C (p.Leu1079=) variant DOID:9562 primary ciliary dyskinesia IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:24033266|PMID:25741868|PMID:28492532 10047957 CV191782 NM_001369.3(DNAH5):c.2355C>T (p.Leu785=) variant DOID:9562 primary ciliary dyskinesia IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:25741868|PMID:28492532 10047958 CV191789 NM_002863.5(PYGL):c.1947C>A (p.Tyr649Ter) variant DOID:2754 glycogen storage disease VI IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type VI PMID:21646031|PMID:25741868|PMID:28492532|PMID:9536091 10047959 CV191790 NM_002863.5(PYGL):c.1828-2del variant DOID:2754 glycogen storage disease VI IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type VI PMID:24033266|PMID:25741868|PMID:28492532 10047961 CV191793 NM_001079872.2(CUL4B):c.1857C>T (p.Cys619=) variant DOID:0060822 syndromic X-linked intellectual disability Cabezas type IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CABEZAS TYPE PMID:25741868|PMID:26467025|PMID:28492532 10047961 CV191793 NM_001079872.2(CUL4B):c.1857C>T (p.Cys619=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 10047962 CV191794 NM_003611.3(OFD1):c.2052C>G (p.Ser684=) variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:25741868|PMID:28492532 10047962 CV191794 NM_003611.3(OFD1):c.2052C>G (p.Ser684=) variant DOID:9562 primary ciliary dyskinesia IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:25741868|PMID:28492532 10047963 CV191797 NM_001367721.1(CASK):c.1504-6dup variant DOID:0060807 syndromic X-linked intellectual disability Najm type IAGP D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked PMID:28492532 10047966 CV191804 NM_005529.7(HSPG2):c.2074G>A (p.Val692Met) variant DOID:0090005 Schwartz-Jampel syndrome 1 IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Schwartz-Jampel syndrome PMID:24781210|PMID:25504735|PMID:25741868|PMID:26467025|PMID:28492532 10047966 CV191804 NM_005529.7(HSPG2):c.2074G>A (p.Val692Met) variant DOID:65 connective tissue disease IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:24781210|PMID:25504735|PMID:25741868|PMID:26467025|PMID:28492532 10047966 CV191804 NM_005529.7(HSPG2):c.2074G>A (p.Val692Met) variant DOID:9005084 Kniest Like Dysplasia Lethal IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Lethal Kniest-like syndrome PMID:24781210|PMID:25504735|PMID:25741868|PMID:26467025|PMID:28492532 10047968 CV191807 NM_006946.4(SPTBN2):c.3282G>A (p.Pro1094=) variant DOID:1441 autosomal dominant cerebellar ataxia IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia PMID:25741868|PMID:26467025|PMID:28492532 10047969 CV191808 NM_007126.5(VCP):c.2214A>G (p.Glu738=) variant DOID:0050881 inclusion body myopathy with Paget disease of bone and frontotemporal dementia IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Inclusion body myopathy with Paget disease of bone and frontotemporal dementia PMID:26467025|PMID:28492532 10047969 CV191808 NM_007126.5(VCP):c.2214A>G (p.Glu738=) variant DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis 6 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia PMID:26467025|PMID:28492532 10047969 CV191808 NM_007126.5(VCP):c.2214A>G (p.Glu738=) variant DOID:0111385 inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 PMID:26467025|PMID:28492532 10047969 CV191808 NM_007126.5(VCP):c.2214A>G (p.Glu738=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532 10047970 CV191809 NM_007214.5(SEC63):c.1605dup (p.Pro536fs) variant DOID:0060975 polycystic liver disease 2 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Polycystic liver disease 2 PMID:25741868 10047971 CV191817 NM_014639.4(SKIC3):c.1427C>G (p.Thr476Arg) variant DOID:0111415 trichohepatoenteric syndrome 1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Trichohepatoenteric syndrome 1 PMID:25741868|PMID:28492532 10047972 CV191820 NM_014780.5(CUL7):c.3041T>G (p.Leu1014Arg) variant DOID:0060241 3-M syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: 3-M syndrome PMID:16142236|PMID:19225462|PMID:21396581|PMID:25741868|PMID:28492532 10047972 CV191820 NM_014780.5(CUL7):c.3041T>G (p.Leu1014Arg) variant DOID:630 genetic disease IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16142236|PMID:19225462|PMID:21396581|PMID:25741868|PMID:28492532 10047972 CV191820 NM_014780.5(CUL7):c.3041T>G (p.Leu1014Arg) variant DOID:9005349 Three M Syndrome 1 IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Three M syndrome 1 PMID:16142236|PMID:19225462|PMID:21396581|PMID:25741868|PMID:28492532 10047973 CV191826 NM_016616.5(NME8):c.1405A>C (p.Ile469Leu) variant DOID:0110606 primary ciliary dyskinesia 6 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 6 PMID:25741868|PMID:28492532 10047973 CV191826 NM_016616.5(NME8):c.1405A>C (p.Ile469Leu) variant DOID:9562 primary ciliary dyskinesia IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:25741868|PMID:28492532 10047974 CV191829 NM_018979.4(WNK1):c.3582G>A (p.Glu1194=) variant DOID:0070155 hereditary sensory and autonomic neuropathy type 2A IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A PMID:25741868|PMID:28492532 10047974 CV191829 NM_018979.4(WNK1):c.3582G>A (p.Glu1194=) variant DOID:630 genetic disease IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10047975 CV191835 NM_022455.5(NSD1):c.5332C>T (p.Arg1778Ter) variant DOID:0112103 Sotos syndrome 1 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: SOTOS SYNDROME 1 PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:25741868|PMID:28492532 10047975 CV191835 NM_022455.5(NSD1):c.5332C>T (p.Arg1778Ter) variant DOID:14748 Sotos syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Sotos syndrome PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:25741868|PMID:28492532 10047975 CV191835 NM_022455.5(NSD1):c.5332C>T (p.Arg1778Ter) variant DOID:9119 acute myeloid leukemia IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Acute myeloid leukemia, adult PMID:12464997|PMID:14571271|PMID:15942875|PMID:16247291|PMID:25741868|PMID:28492532 10047976 CV191839 NM_025137.4(SPG11):c.3037A>G (p.Lys1013Glu) variant DOID:0110764 hereditary spastic paraplegia 11 IAGP D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 11, autosomal recessive PMID:19466474|PMID:23733235|PMID:24833714|PMID:25588603|PMID:25741868|PMID:26467025|PMID:27904835|PMID:28492532 10047976 CV191839 NM_025137.4(SPG11):c.3037A>G (p.Lys1013Glu) variant DOID:2476 hereditary spastic paraplegia IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:19466474|PMID:23733235|PMID:24833714|PMID:25588603|PMID:25741868|PMID:26467025|PMID:27904835|PMID:28492532 10047976 CV191839 NM_025137.4(SPG11):c.3037A>G (p.Lys1013Glu) variant DOID:332 amyotrophic lateral sclerosis IAGP D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis PMID:19466474|PMID:23733235|PMID:24833714|PMID:25588603|PMID:25741868|PMID:26467025|PMID:27904835|PMID:28492532 10047977 CV191843 NM_001379081.2(FREM1):c.2587C>G (p.Leu863Val) variant DOID:9003259 Marles Greenberg Persaud Syndrome IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Manitoba Trichoanal syndrome PMID:25741868|PMID:28492532 10047978 CV191847 NM_198428.3(BBS9):c.1646C>T (p.Thr549Ile) variant DOID:0110131 Bardet-Biedl syndrome 9 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 9 PMID:25741868|PMID:28492532 10047978 CV191847 NM_198428.3(BBS9):c.1646C>T (p.Thr549Ile) variant DOID:1935 Bardet-Biedl syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:25741868|PMID:28492532 10047979 CV191848 NM_198428.3(BBS9):c.1648A>G (p.Ile550Val) variant DOID:0110123 Bardet-Biedl syndrome 1 IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 PMID:25741868|PMID:28492532 10047979 CV191848 NM_198428.3(BBS9):c.1648A>G (p.Ile550Val) variant DOID:0110131 Bardet-Biedl syndrome 9 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: BBS9-related condition PMID:25741868|PMID:28492532 10047979 CV191848 NM_198428.3(BBS9):c.1648A>G (p.Ile550Val) variant DOID:1935 Bardet-Biedl syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:25741868|PMID:28492532 10047981 CV191854 NM_000070.3(CAPN3):c.1981del (p.Gln660_Ile661insTer) variant DOID:0110275 autosomal recessive limb-girdle muscular dystrophy type 2A IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2A PMID:10330340|PMID:15689361|PMID:18055493|PMID:25135358|PMID:25741868|PMID:26467025|PMID:28492532 10047981 CV191854 NM_000070.3(CAPN3):c.1981del (p.Gln660_Ile661insTer) variant DOID:9006843 Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 4 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, autosomal dominant 4 PMID:10330340|PMID:15689361|PMID:18055493|PMID:25135358|PMID:25741868|PMID:26467025|PMID:28492532 10047983 CV191859 NM_000124.4(ERCC6):c.3010C>T (p.Leu1004=) variant DOID:0080908 Cockayne syndrome B IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Cockayne syndrome B PMID:25741868|PMID:28492532 10047983 CV191859 NM_000124.4(ERCC6):c.3010C>T (p.Leu1004=) variant DOID:0080911 cerebrooculofacioskeletal syndrome 1 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 1 PMID:25741868|PMID:28492532 10047983 CV191859 NM_000124.4(ERCC6):c.3010C>T (p.Leu1004=) variant DOID:0110028 age related macular degeneration 5 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Age-related macular degeneration 5 PMID:25741868|PMID:28492532 10047984 CV191863 NM_000195.5(HPS1):c.1698G>A (p.Ser566=) variant DOID:0060539 Hermansky-Pudlak syndrome 1 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 1 PMID:24033266|PMID:25741868|PMID:28492532 10047984 CV191863 NM_000195.5(HPS1):c.1698G>A (p.Ser566=) variant DOID:3753 Hermansky-Pudlak syndrome IAGP D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome PMID:24033266|PMID:25741868|PMID:28492532 10047985 CV191864 NM_000208.4(INSR):c.3255C>T (p.His1085=) variant DOID:0050470 Donohue syndrome IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Leprechaunism syndrome PMID:22775283|PMID:25741868|PMID:28492532 10047985 CV191864 NM_000208.4(INSR):c.3255C>T (p.His1085=) variant DOID:9001751 Insulin-Resistant Diabetes Mellitus, with Acanthosis Nigricans IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: IRAN, TYPE A PMID:22775283|PMID:25741868|PMID:28492532 10047985 CV191864 NM_000208.4(INSR):c.3255C>T (p.His1085=) variant DOID:9001863 PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Rabson-Mendenhall syndrome PMID:22775283|PMID:25741868|PMID:28492532 10047985 CV191864 NM_000208.4(INSR):c.3255C>T (p.His1085=) variant DOID:9007692 Insulin Resistance IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Insulin-resistance syndrome type A PMID:22775283|PMID:25741868|PMID:28492532 10047986 CV191867 NM_000276.4(OCRL):c.1714-1G>A variant DOID:1056 oculocerebrorenal syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Lowe syndrome PMID:16199547|PMID:21031565|PMID:22381590|PMID:28492532 10047988 CV191869 NM_000414.4(HSD17B4):c.1471G>A (p.Ala491Thr) variant DOID:0090031 D-bifunctional protein deficiency IAGP D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Bifunctional peroxisomal enzyme deficiency PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10047988 CV191869 NM_000414.4(HSD17B4):c.1471G>A (p.Ala491Thr) variant DOID:9003326 Perrault Syndrome 1 IAGP D RGD:8554872 20201015 ClinVar ClinVar Annotator: match by term: Perrault syndrome 1 PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10047989 CV191871 NM_000443.4(ABCB4):c.2211+1G>A variant DOID:0070223 progressive familial intrahepatic cholestasis 3 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Low Gamma-GT Familial Intrahepatic Cholestasis PMID:16199547|PMID:17726488|PMID:23022423|PMID:25741868|PMID:25755532|PMID:28492532 10047989 CV191871 NM_000443.4(ABCB4):c.2211+1G>A variant DOID:0070229 intrahepatic cholestasis of pregnancy 3 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Cholestasis, intrahepatic, of pregnancy, 3 PMID:16199547|PMID:17726488|PMID:23022423|PMID:25741868|PMID:25755532|PMID:28492532 10047989 CV191871 NM_000443.4(ABCB4):c.2211+1G>A variant DOID:9004618 Gallbladder Disease 1 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Gallbladder disease 1 PMID:16199547|PMID:17726488|PMID:23022423|PMID:25741868|PMID:25755532|PMID:28492532 10047990 CV191881 NM_001083961.2(WDR62):c.2112G>C (p.Ser704=) variant DOID:0070293 primary autosomal recessive microcephaly 2 with or without cortical malformations IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Microcephaly 2, primary, autosomal recessive, with or without cortical malformations PMID:25741868|PMID:28492532 10047991 CV191883 NM_001127222.2(CACNA1A):c.2130C>G (p.Ala710=) variant DOID:0050990 episodic ataxia type 2 IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia, paroxysmal, Acetazolamide-responsive PMID:25741868|PMID:26467025|PMID:28492532 10047991 CV191883 NM_001127222.2(CACNA1A):c.2130C>G (p.Ala710=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 10047993 CV191887 NM_001429.4(EP300):c.3143-4dup variant DOID:1933 Rubinstein-Taybi syndrome IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 PMID:28492532 10047994 CV191888 NM_001429.4(EP300):c.3143-4del variant DOID:1933 Rubinstein-Taybi syndrome IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 PMID:28492532 10047994 CV191888 NM_001429.4(EP300):c.3143-4del variant DOID:630 genetic disease IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10047997 CV191898 NM_002863.5(PYGL):c.2112T>C (p.Ala704=) variant DOID:2754 glycogen storage disease VI IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type VI PMID:25741868|PMID:28492532 10047998 CV191904 NM_004006.3(DMD):c.2096C>G (p.Ala699Gly) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:26467025|PMID:28492532 10047998 CV191904 NM_004006.3(DMD):c.2096C>G (p.Ala699Gly) variant DOID:0110461 X-linked dilated cardiomyopathy IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 3B PMID:25741868|PMID:26467025|PMID:28492532 10047998 CV191904 NM_004006.3(DMD):c.2096C>G (p.Ala699Gly) variant DOID:11723 Duchenne muscular dystrophy IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:25741868|PMID:26467025|PMID:28492532 10047998 CV191904 NM_004006.3(DMD):c.2096C>G (p.Ala699Gly) variant DOID:9883 Becker muscular dystrophy IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Becker muscular dystrophy PMID:25741868|PMID:26467025|PMID:28492532 10047999 CV191905 NM_004239.4(TRIP11):c.5298G>T (p.Lys1766Asn) variant DOID:0080054 achondrogenesis type IA IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Achondrogenesis Houston-Harris type PMID:28492532 10047999 CV191905 NM_004239.4(TRIP11):c.5298G>T (p.Lys1766Asn) variant DOID:2256 osteochondrodysplasia IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: TRIP11-related condition PMID:28492532 10048000 CV191906 NM_004260.4(RECQL4):c.2953G>A (p.Val985Met) variant DOID:0050654 Baller-Gerold syndrome IAGP D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Baller-Gerold syndrome PMID:25741868|PMID:28492532 10048000 CV191906 NM_004260.4(RECQL4):c.2953G>A (p.Val985Met) variant DOID:0050774 rapadilino syndrome IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Radial and patellar hypoplasia PMID:25741868|PMID:28492532 10048000 CV191906 NM_004260.4(RECQL4):c.2953G>A (p.Val985Met) variant DOID:9005992 Rothmund-Thomson Syndrome Type 2 IAGP D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Rothmund-Thomson syndrome type 2 PMID:25741868|PMID:28492532 10048001 CV191907 NM_004369.4(COL6A3):c.6239G>A (p.Gly2080Asp) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1A PMID:15689448|PMID:19344236|PMID:23175733|PMID:24038877|PMID:28492532|PMID:7695699|PMID:8218237 10048002 CV191909 NM_005529.7(HSPG2):c.2326G>A (p.Val776Met) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532 10048003 CV191911 NM_005609.4(PYGM):c.2009C>T (p.Ala670Val) variant DOID:2746 glycogen storage disease V IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:24503134|PMID:25741868|PMID:28492532 10048005 CV191920 NM_001077365.2(POMT1):c.1657del (p.Leu553fs) variant DOID:0110274 autosomal recessive limb-girdle muscular dystrophy IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy PMID:12369018|PMID:15637732|PMID:16575835|PMID:24491487|PMID:25741868|PMID:28492532 10048005 CV191920 NM_001077365.2(POMT1):c.1657del (p.Leu553fs) variant DOID:0110297 autosomal recessive limb-girdle muscular dystrophy type 2K IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K PMID:12369018|PMID:15637732|PMID:16575835|PMID:24491487|PMID:25741868|PMID:28492532 10048005 CV191920 NM_001077365.2(POMT1):c.1657del (p.Leu553fs) variant DOID:0111237 congenital muscular dystrophy-dystroglycanopathy type A1 IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 PMID:12369018|PMID:15637732|PMID:16575835|PMID:24491487|PMID:25741868|PMID:28492532 10048006 CV191930 NM_015272.5(RPGRIP1L):c.2643T>A (p.Asn881Lys) variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:25741868|PMID:28492532 10048006 CV191930 NM_015272.5(RPGRIP1L):c.2643T>A (p.Asn881Lys) variant DOID:0050778 Meckel syndrome IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:25741868|PMID:28492532 10048006 CV191930 NM_015272.5(RPGRIP1L):c.2643T>A (p.Asn881Lys) variant DOID:0070115 Meckel syndrome 1 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Dysencephalia splachnocystica PMID:25741868|PMID:28492532 10048006 CV191930 NM_015272.5(RPGRIP1L):c.2643T>A (p.Asn881Lys) variant DOID:0070119 Meckel syndrome 5 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 5 PMID:25741868|PMID:28492532 10048006 CV191930 NM_015272.5(RPGRIP1L):c.2643T>A (p.Asn881Lys) variant DOID:0110980 Joubert syndrome 1 IAGP D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:25741868|PMID:28492532 10048006 CV191930 NM_015272.5(RPGRIP1L):c.2643T>A (p.Asn881Lys) variant DOID:0111002 Joubert syndrome 7 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Joubert syndrome 7 PMID:25741868|PMID:28492532 10048006 CV191930 NM_015272.5(RPGRIP1L):c.2643T>A (p.Asn881Lys) variant DOID:12712 nephronophthisis IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Nephronophthisis 8 PMID:25741868|PMID:28492532 10048007 CV191937 NM_017950.4(CCDC40):c.2824_2825insCTGT (p.Arg942fs) variant DOID:0050144 Kartagener syndrome IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Kartagener syndrome PMID:21131974|PMID:22693285|PMID:23255504|PMID:25741868|PMID:28492532|PMID:31443223|PMID:31650533|PMID:31772028|PMID:31879361 10048007 CV191937 NM_017950.4(CCDC40):c.2824_2825insCTGT (p.Arg942fs) variant DOID:0110623 primary ciliary dyskinesia 15 IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 15 PMID:21131974|PMID:22693285|PMID:23255504|PMID:25741868|PMID:28492532|PMID:31443223|PMID:31650533|PMID:31772028|PMID:31879361 10048007 CV191937 NM_017950.4(CCDC40):c.2824_2825insCTGT (p.Arg942fs) variant DOID:9562 primary ciliary dyskinesia IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:21131974|PMID:22693285|PMID:23255504|PMID:25741868|PMID:28492532|PMID:31443223|PMID:31650533|PMID:31772028|PMID:31879361 10048008 CV191943 NM_020800.3(IFT80):c.1864G>A (p.Ala622Thr) variant DOID:0050592 asphyxiating thoracic dystrophy IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:25741868|PMID:28492532 10048008 CV191943 NM_020800.3(IFT80):c.1864G>A (p.Ala622Thr) variant DOID:0110086 asphyxiating thoracic dystrophy 2 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 2 PMID:25741868|PMID:28492532 10048009 CV191945 NM_020822.3(KCNT1):c.1769+16A>G variant DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 IAGP D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, 5 PMID:25741868|PMID:28492532 10048009 CV191945 NM_020822.3(KCNT1):c.1769+16A>G variant DOID:0080439 developmental and epileptic encephalopathy 14 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:25741868|PMID:28492532 10048010 CV191949 NM_023110.3(FGFR1):c.2187-6C>T variant DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia IAGP D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:23348397|PMID:25741868|PMID:26467025|PMID:27884173|PMID:28492532 10048010 CV191949 NM_023110.3(FGFR1):c.2187-6C>T variant DOID:0111532 osteoglophonic dysplasia IAGP D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Osteoglophonic dysplasia PMID:23348397|PMID:25741868|PMID:26467025|PMID:27884173|PMID:28492532 10048010 CV191949 NM_023110.3(FGFR1):c.2187-6C>T variant DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive IAGP D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:23348397|PMID:25741868|PMID:26467025|PMID:27884173|PMID:28492532 10048010 CV191949 NM_023110.3(FGFR1):c.2187-6C>T variant DOID:9008388 Trigonocephaly 1 IAGP D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Trigonocephaly 1 PMID:23348397|PMID:25741868|PMID:26467025|PMID:27884173|PMID:28492532 10048011 CV191950 NM_024312.5(GNPTAB):c.3326dup (p.Asn1109fs) variant DOID:0080070 mucolipidosis II alpha/beta IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Mucolipidosis type II PMID:19617216|PMID:25107912|PMID:28492532 10048011 CV191950 NM_024312.5(GNPTAB):c.3326dup (p.Asn1109fs) variant DOID:0080488 mucolipidosis IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Mucolipidosis PMID:19617216|PMID:25107912|PMID:28492532 10048012 CV191952 NM_025074.7(FRAS1):c.1931del (p.Gly644fs) variant DOID:0111405 Fraser syndrome 1 IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Fraser syndrome 1 PMID:12766769|PMID:18671281|PMID:25741868|PMID:28492532 10048013 CV191953 NM_025074.7(FRAS1):c.1947T>C (p.His649=) variant DOID:0111405 Fraser syndrome 1 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Fraser syndrome 1 PMID:25741868|PMID:28492532 10048014 CV191955 NM_032578.4(MYPN):c.3417C>T (p.Arg1139=) variant DOID:0110445 dilated cardiomyopathy 1KK IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: MYPN-related condition PMID:24033266|PMID:28492532 10048015 CV191957 NM_033100.4(CDHR1):c.2439T>C (p.Thr813=) variant DOID:0050572 cone-rod dystrophy IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive PMID:25741868|PMID:28492532 10048015 CV191957 NM_033100.4(CDHR1):c.2439T>C (p.Thr813=) variant DOID:0111021 cone-rod dystrophy 15 IAGP D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 15 PMID:25741868|PMID:28492532 10048016 CV191963 NM_153603.4(COG7):c.2283C>T (p.Thr761=) variant DOID:0070257 congenital disorder of glycosylation type IIe IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: COG7 congenital disorder of glycosylation PMID:28492532 10048017 CV191968 NM_213599.3(ANO5):c.1898+1G>A variant DOID:0110284 autosomal recessive limb-girdle muscular dystrophy type 2L IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2L PMID:16199547|PMID:21186264|PMID:23041008|PMID:23530687|PMID:23606453|PMID:23607914|PMID:23663589|PMID:23670307|PMID:25741868|PMID:25891276|PMID:26467025|PMID:28492532|PMID:30919934 10048017 CV191968 NM_213599.3(ANO5):c.1898+1G>A variant DOID:0111533 gnathodiaphyseal dysplasia IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Gnathodiaphyseal dysplasia PMID:16199547|PMID:21186264|PMID:23041008|PMID:23530687|PMID:23606453|PMID:23607914|PMID:23663589|PMID:23670307|PMID:25741868|PMID:25891276|PMID:26467025|PMID:28492532|PMID:30919934 10048019 CV191972 NM_000271.5(NPC1):c.2795+19T>C variant DOID:0070113 Niemann-Pick disease type C1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C1 PMID:25741868|PMID:28492532 10048020 CV191973 NM_000271.5(NPC1):c.2621A>T (p.Asp874Val) variant DOID:0070113 Niemann-Pick disease type C1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C1 PMID:10521297|PMID:11333381|PMID:11349231|PMID:11754101|PMID:12408188|PMID:12955717|PMID:17160617|PMID:23773996|PMID:24033266|PMID:25741868|PMID:26666848|PMID:26939636|PMID:27193329|PMID:28492532|PMID:30609409 10048020 CV191973 NM_000271.5(NPC1):c.2621A>T (p.Asp874Val) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10521297|PMID:11333381|PMID:11349231|PMID:11754101|PMID:12408188|PMID:12955717|PMID:17160617|PMID:23773996|PMID:24033266|PMID:25741868|PMID:26666848|PMID:26939636|PMID:27193329|PMID:28492532|PMID:30609409 10048021 CV191974 NM_000321.3(RB1):c.1696-1G>A variant DOID:768 retinoblastoma IAGP D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinoblastoma PMID:16199547|PMID:17096365|PMID:25741868|PMID:28492532|PMID:7704558 10048022 CV191982 NM_001378615.1(CC2D2A):c.2050T>A (p.Leu684Ile) variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:18414213|PMID:28492532 10048022 CV191982 NM_001378615.1(CC2D2A):c.2050T>A (p.Leu684Ile) variant DOID:0070120 Meckel syndrome 6 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: CC2D2A-related disorder PMID:18414213|PMID:28492532 10048022 CV191982 NM_001378615.1(CC2D2A):c.2050T>A (p.Leu684Ile) variant DOID:630 genetic disease IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:28492532 10048023 CV191984 NM_001378615.1(CC2D2A):c.2161C>T (p.Pro721Ser) variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:19777577|PMID:21068128|PMID:22241855|PMID:22995991|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29987673|PMID:33486889 10048023 CV191984 NM_001378615.1(CC2D2A):c.2161C>T (p.Pro721Ser) variant DOID:0070120 Meckel syndrome 6 IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 6 PMID:19777577|PMID:21068128|PMID:22241855|PMID:22995991|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29987673|PMID:33486889 10048023 CV191984 NM_001378615.1(CC2D2A):c.2161C>T (p.Pro721Ser) variant DOID:0110980 Joubert syndrome 1 IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:19777577|PMID:21068128|PMID:22241855|PMID:22995991|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29987673|PMID:33486889 10048024 CV191988 NM_001182.5(ALDH7A1):c.1567A>G (p.Thr523Ala) variant DOID:0080768 pyridoxine-dependent epilepsy IAGP D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Pyridoxine-dependent epilepsy PMID:25741868|PMID:26467025|PMID:28492532 10048024 CV191988 NM_001182.5(ALDH7A1):c.1567A>G (p.Thr523Ala) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 10048025 CV191990 NM_001297.5(CNGB1):c.1626C>T (p.Thr542=) variant DOID:0110402 retinitis pigmentosa 45 IAGP D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 45 PMID:28492532 10048025 CV191990 NM_001297.5(CNGB1):c.1626C>T (p.Thr542=) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532 10048027 CV191995 NM_001853.4(COL9A3):c.901-9T>C variant DOID:65 connective tissue disease IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:26467025|PMID:28492532 10048028 CV191999 NM_002335.4(LRP5):c.4000+10T>A variant DOID:12347 osteogenesis imperfecta IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:25741868|PMID:28492532 10048028 CV191999 NM_002335.4(LRP5):c.4000+10T>A variant DOID:4254 osteosclerosis IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteosclerosis PMID:25741868|PMID:28492532 10048029 CV192003 NM_001130987.2(DYSF):c.1626C>T (p.Asn542=) variant DOID:0110276 autosomal recessive limb-girdle muscular dystrophy type 2B IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 3 PMID:25741868|PMID:28492532 10048030 CV192005 NM_003742.4(ABCB11):c.2093G>A (p.Arg698His) variant DOID:0070222 progressive familial intrahepatic cholestasis 2 IAGP D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2 PMID:20232290|PMID:23022423|PMID:23279303|PMID:23750872|PMID:25741868|PMID:27153395|PMID:28492532|PMID:32581362 10048030 CV192005 NM_003742.4(ABCB11):c.2093G>A (p.Arg698His) variant DOID:0070229 intrahepatic cholestasis of pregnancy 3 IAGP D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Cholestasis, intrahepatic, of pregnancy 3 PMID:20232290|PMID:23022423|PMID:23279303|PMID:23750872|PMID:25741868|PMID:27153395|PMID:28492532|PMID:32581362 10048030 CV192005 NM_003742.4(ABCB11):c.2093G>A (p.Arg698His) variant DOID:0070232 benign recurrent intrahepatic cholestasis 2 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Benign recurrent intrahepatic cholestasis type 2 PMID:20232290|PMID:23022423|PMID:23279303|PMID:23750872|PMID:25741868|PMID:27153395|PMID:28492532|PMID:32581362 10048032 CV192012 NM_004369.4(COL6A3):c.6293G>T (p.Gly2098Val) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:15689448|PMID:19344236|PMID:24038877|PMID:28492532|PMID:7695699|PMID:8218237 10048033 CV192013 NM_004380.3(CREBBP):c.3370-5_3370-4del variant DOID:1933 Rubinstein-Taybi syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Broad thumb-hallux syndrome PMID:25741868|PMID:28492532 10048033 CV192013 NM_004380.3(CREBBP):c.3370-5_3370-4del variant DOID:630 genetic disease IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10048033 CV192013 NM_004380.3(CREBBP):c.3370-5_3370-4del variant DOID:9008974 Menke-Hennekam Syndrome 1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Menke-Hennekam syndrome 1 PMID:25741868|PMID:28492532 10048034 CV192019 NM_006846.4(SPINK5):c.1659C>T (p.Val553=) variant DOID:0050474 Netherton syndrome IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Netherton syndrome PMID:24033266|PMID:25741868|PMID:28492532 10048035 CV192020 NM_006922.4(SCN3A):c.3250G>A (p.Val1084Ile) variant DOID:0080420 developmental and epileptic encephalopathy 62 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 62 PMID:19702560|PMID:25741868|PMID:26467025|PMID:27001614|PMID:27957625|PMID:28492532 10048035 CV192020 NM_006922.4(SCN3A):c.3250G>A (p.Val1084Ile) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:19702560|PMID:25741868|PMID:26467025|PMID:27001614|PMID:27957625|PMID:28492532 10048036 CV192022 NM_001077365.2(POMT1):c.1798C>T (p.Arg600Ter) variant DOID:0110297 autosomal recessive limb-girdle muscular dystrophy type 2K IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K PMID:12369018|PMID:15637732|PMID:16575835|PMID:22522420|PMID:22549409|PMID:25741868|PMID:28492532 10048036 CV192022 NM_001077365.2(POMT1):c.1798C>T (p.Arg600Ter) variant DOID:0111237 congenital muscular dystrophy-dystroglycanopathy type A1 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 PMID:12369018|PMID:15637732|PMID:16575835|PMID:22522420|PMID:22549409|PMID:25741868|PMID:28492532 10048037 CV192024 NM_012448.4(STAT5B):c.2237+15T>C variant DOID:0080836 growth hormone insensitivity syndrome with immune dysregulation 1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Growth hormone insensitivity with immune dysregulation 1, autosomal recessive PMID:25741868|PMID:28492532 10048038 CV192026 NM_013382.7(POMT2):c.1881G>A (p.Ala627=) variant DOID:0110298 autosomal recessive limb-girdle muscular dystrophy type 2N IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 PMID:17878207|PMID:26467025|PMID:28492532 10048038 CV192026 NM_013382.7(POMT2):c.1881G>A (p.Ala627=) variant DOID:0111240 congenital muscular dystrophy-dystroglycanopathy type A2 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 PMID:17878207|PMID:26467025|PMID:28492532 10048040 CV190191 NM_001378454.1(ALMS1):c.11821G>A (p.Gly3941Ser) variant DOID:0050473 Alstrom syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Alstrom's syndrome PMID:24033266|PMID:25741868|PMID:25846608|PMID:28492532|PMID:30421101|PMID:33669459|PMID:34148947 10048040 CV190191 NM_001378454.1(ALMS1):c.11821G>A (p.Gly3941Ser) variant DOID:9351 diabetes mellitus IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:24033266|PMID:25741868|PMID:25846608|PMID:28492532|PMID:30421101|PMID:33669459|PMID:34148947 10048041 CV192031 NM_017617.5(NOTCH1):c.2769A>G (p.Thr923=) variant DOID:0080333 aortic valve disease 1 IAGP D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Aortic valve disease 1 PMID:15472075|PMID:16614245|PMID:19245433|PMID:19635999|PMID:21670202|PMID:22077063|PMID:22210878|PMID:22858860|PMID:23086750|PMID:23734977|PMID:24943832|PMID:25741868|PMID:26837699|PMID:28492532 10048041 CV192031 NM_017617.5(NOTCH1):c.2769A>G (p.Thr923=) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:15472075|PMID:16614245|PMID:19245433|PMID:19635999|PMID:21670202|PMID:22077063|PMID:22210878|PMID:22858860|PMID:23086750|PMID:23734977|PMID:24943832|PMID:25741868|PMID:26837699|PMID:28492532 10048041 CV192031 NM_017617.5(NOTCH1):c.2769A>G (p.Thr923=) variant DOID:9005781 Adams-Oliver Syndrome 5 IAGP D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:15472075|PMID:16614245|PMID:19245433|PMID:19635999|PMID:21670202|PMID:22077063|PMID:22210878|PMID:22858860|PMID:23086750|PMID:23734977|PMID:24943832|PMID:25741868|PMID:26837699|PMID:28492532 10048042 CV192032 NM_001134831.2(AHI1):c.2505G>A (p.Arg835=) variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:25741868|PMID:28492532 10048042 CV192032 NM_001134831.2(AHI1):c.2505G>A (p.Arg835=) variant DOID:0110998 Joubert syndrome 3 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Joubert syndrome 3 PMID:25741868|PMID:28492532 10048044 CV192041 NM_018136.5(ASPM):c.7475G>A (p.Arg2492Lys) variant DOID:0070280 primary autosomal recessive microcephaly 5 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Microcephaly 5, primary, autosomal recessive PMID:28492532 10048045 CV192043 NM_020631.6(PLEKHG5):c.2001T>C (p.Ser667=) variant DOID:0110198 Charcot-Marie-Tooth disease recessive intermediate C IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, recessive intermediate c PMID:25741868|PMID:28492532 10048045 CV192043 NM_020631.6(PLEKHG5):c.2001T>C (p.Ser667=) variant DOID:0111213 autosomal recessive distal hereditary motor neuronopathy 4 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 4 PMID:25741868|PMID:28492532 10048046 CV192046 NM_020921.4(NIN):c.3959G>A (p.Gly1320Glu) variant DOID:0070011 Seckel syndrome 7 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Seckel syndrome 7 PMID:25741868|PMID:28492532 10048047 CV192047 NM_001291415.2(KDM6A):c.2859-7_2859-5del variant DOID:9007875 Kabuki Syndrome 2 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 2 PMID:25741868|PMID:28492532 10048048 CV192048 NM_001193315.2(VIPAS39):c.1242G>A (p.Leu414=) variant DOID:0111354 arthrogryposis, renal dysfunction, and cholestasis 2 IAGP D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: VIPAS39-related condition PMID:25741868|PMID:28492532 10048049 CV192053 NM_023110.3(FGFR1):c.2314C>T (p.Pro772Ser) variant DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:12627230|PMID:15365636|PMID:17154279|PMID:18160472|PMID:19707180|PMID:22378383|PMID:25741868|PMID:28492532 10048049 CV192053 NM_023110.3(FGFR1):c.2314C>T (p.Pro772Ser) variant DOID:0111532 osteoglophonic dysplasia IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Osteoglophonic dysplasia PMID:12627230|PMID:15365636|PMID:17154279|PMID:18160472|PMID:19707180|PMID:22378383|PMID:25741868|PMID:28492532 10048049 CV192053 NM_023110.3(FGFR1):c.2314C>T (p.Pro772Ser) variant DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive IAGP D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:12627230|PMID:15365636|PMID:17154279|PMID:18160472|PMID:19707180|PMID:22378383|PMID:25741868|PMID:28492532 10048049 CV192053 NM_023110.3(FGFR1):c.2314C>T (p.Pro772Ser) variant DOID:9008388 Trigonocephaly 1 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Trigonocephaly 1 PMID:12627230|PMID:15365636|PMID:17154279|PMID:18160472|PMID:19707180|PMID:22378383|PMID:25741868|PMID:28492532 10048051 CV192062 NM_182961.4(SYNE1):c.1878A>G (p.Gln626=) variant DOID:0070249 autosomal dominant Emery-Dreifuss muscular dystrophy 4 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant PMID:25741868|PMID:26467025|PMID:28492532 10048051 CV192062 NM_182961.4(SYNE1):c.1878A>G (p.Gln626=) variant DOID:0111618 autosomal recessive spinocerebellar ataxia 8 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 PMID:25741868|PMID:26467025|PMID:28492532 10048052 CV192063 NM_052989.3(IFT122):c.1993-7G>C variant DOID:0050577 cranioectodermal dysplasia IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Cranioectodermal dysplasia PMID:25741868|PMID:28492532 10048052 CV192063 NM_052989.3(IFT122):c.1993-7G>C variant DOID:0080803 cranioectodermal dysplasia 1 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Cranioectodermal dysplasia 1 PMID:25741868|PMID:28492532 10048053 CV192064 NM_053025.4(MYLK):c.3027G>A (p.Glu1009=) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:24033266|PMID:25741868|PMID:28492532 10048053 CV192064 NM_053025.4(MYLK):c.3027G>A (p.Glu1009=) variant DOID:9006750 Familial Thoracic Aortic Aneurysm 7 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: AORTIC DISSECTION, FAMILIAL, WITH OR WITHOUT AORTIC ANEURYSM PMID:24033266|PMID:25741868|PMID:28492532 10048054 CV192065 NM_053025.4(MYLK):c.3402C>T (p.Asn1134=) variant DOID:0060610 megacystis-microcolon-intestinal hypoperistalsis syndrome IAGP D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Berdon syndrome PMID:24033266|PMID:25333361|PMID:25741868|PMID:28492532 10048054 CV192065 NM_053025.4(MYLK):c.3402C>T (p.Asn1134=) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:24033266|PMID:25333361|PMID:25741868|PMID:28492532 10048054 CV192065 NM_053025.4(MYLK):c.3402C>T (p.Asn1134=) variant DOID:9006750 Familial Thoracic Aortic Aneurysm 7 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: AORTIC DISSECTION, FAMILIAL, WITH OR WITHOUT AORTIC ANEURYSM PMID:24033266|PMID:25333361|PMID:25741868|PMID:28492532 10048055 CV192073 NM_000061.3(BTK):c.1909-9T>C variant DOID:0060875 isolated growth hormone deficiency type III IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency PMID:26915675|PMID:28492532 10048055 CV192073 NM_000061.3(BTK):c.1909-9T>C variant DOID:14179 X-linked agammaglobulinemia IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: X-linked agammaglobulinemia PMID:26915675|PMID:28492532 10048057 CV192077 NM_000180.4(GUCY2D):c.3225-7C>T variant DOID:0111011 cone-rod dystrophy 6 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 6 PMID:25741868|PMID:28492532 10048058 CV192078 NM_000180.4(GUCY2D):c.3297G>A (p.Pro1099=) variant DOID:0111011 cone-rod dystrophy 6 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 6 PMID:25741868|PMID:28492532 10048059 CV192079 NM_000182.5(HADHA):c.2146+1G>A variant DOID:0061186 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 10048059 CV192079 NM_000182.5(HADHA):c.2146+1G>A variant DOID:0111277 mitochondrial trifunctional protein deficiency IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Mitochondrial trifunctional protein deficiency PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 10048060 CV192082 NM_000426.4(LAMA2):c.2749+1G>C variant DOID:0110636 congenital merosin-deficient muscular dystrophy 1A IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Merosin deficient congenital muscular dystrophy PMID:16199547|PMID:18700894|PMID:21922472|PMID:24225367|PMID:25741868|PMID:28492532|PMID:32904964|PMID:33250842 10048061 CV192083 NM_000443.4(ABCB4):c.2363G>A (p.Arg788Gln) variant DOID:0070223 progressive familial intrahepatic cholestasis 3 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis 3 PMID:12891548|PMID:20849526|PMID:23217326|PMID:23533021|PMID:23820649|PMID:25741868|PMID:28492532 10048061 CV192083 NM_000443.4(ABCB4):c.2363G>A (p.Arg788Gln) variant DOID:0070229 intrahepatic cholestasis of pregnancy 3 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Cholestasis, intrahepatic, of pregnancy 3 PMID:12891548|PMID:20849526|PMID:23217326|PMID:23533021|PMID:23820649|PMID:25741868|PMID:28492532 10048062 CV192097 NM_001457.4(FLNB):c.2773G>T (p.Gly925Cys) variant DOID:14764 Larsen syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: FLNB-Related Spectrum Disorders PMID:25741868|PMID:28492532 10048062 CV192097 NM_001457.4(FLNB):c.2773G>T (p.Gly925Cys) variant DOID:9004436 Atelosteogenesis Type 3 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Atelosteogenesis type III PMID:25741868|PMID:28492532 10048064 CV192100 NM_001851.6(COL9A1):c.1349A>G (p.Glu450Gly) variant DOID:0070301 multiple epiphyseal dysplasia 6 IAGP D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Multiple epiphyseal dysplasia 6 PMID:25741868|PMID:26467025|PMID:28492532 10048064 CV192100 NM_001851.6(COL9A1):c.1349A>G (p.Glu450Gly) variant DOID:65 connective tissue disease IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disease PMID:25741868|PMID:26467025|PMID:28492532 10048065 CV192101 NM_001852.4(COL9A2):c.1007C>A (p.Ala336Glu) variant DOID:65 connective tissue disease IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:26467025|PMID:28492532 10048066 CV192104 NM_001378452.1(ITPR1):c.2007-3T>C variant DOID:1059 intellectual disability IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:21367767|PMID:25741868|PMID:26467025|PMID:28492532 10048066 CV192104 NM_001378452.1(ITPR1):c.2007-3T>C variant DOID:1441 autosomal dominant cerebellar ataxia IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia PMID:21367767|PMID:25741868|PMID:26467025|PMID:28492532 10048066 CV192104 NM_001378452.1(ITPR1):c.2007-3T>C variant DOID:9002121 Spinocerebellar Ataxias IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Spinocerebellar Ataxia, Dominant PMID:21367767|PMID:25741868|PMID:26467025|PMID:28492532 10048067 CV192105 NM_002335.4(LRP5):c.4089C>T (p.Asp1363=) variant DOID:12347 osteogenesis imperfecta IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:25741868|PMID:28492532 10048067 CV192105 NM_002335.4(LRP5):c.4089C>T (p.Asp1363=) variant DOID:4254 osteosclerosis IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteosclerosis PMID:25741868|PMID:28492532 10048068 CV192113 NM_004006.3(DMD):c.2380+10C>T variant DOID:11723 Duchenne muscular dystrophy IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:25741868|PMID:28492532 10048068 CV192113 NM_004006.3(DMD):c.2380+10C>T variant DOID:9883 Becker muscular dystrophy IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Becker muscular dystrophy PMID:25741868|PMID:28492532 10048069 CV192116 NM_004239.4(TRIP11):c.5479G>A (p.Gly1827Ser) variant DOID:0080054 achondrogenesis type IA IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:25741868|PMID:28492532 10048069 CV192116 NM_004239.4(TRIP11):c.5479G>A (p.Gly1827Ser) variant DOID:9003459 Odontochondrodysplasia 1 IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Goldblatt syndrome PMID:25741868|PMID:28492532 10048070 CV192124 NM_001077365.2(POMT1):c.1892C>T (p.Pro631Leu) variant DOID:0110274 autosomal recessive limb-girdle muscular dystrophy IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy PMID:24491487|PMID:25741868|PMID:28492532|PMID:31311558|PMID:34925456 10048070 CV192124 NM_001077365.2(POMT1):c.1892C>T (p.Pro631Leu) variant DOID:0110297 autosomal recessive limb-girdle muscular dystrophy type 2K IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K PMID:24491487|PMID:25741868|PMID:28492532|PMID:31311558|PMID:34925456 10048070 CV192124 NM_001077365.2(POMT1):c.1892C>T (p.Pro631Leu) variant DOID:0111237 congenital muscular dystrophy-dystroglycanopathy type A1 IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 PMID:24491487|PMID:25741868|PMID:28492532|PMID:31311558|PMID:34925456 10048072 CV192130 NM_014780.5(CUL7):c.3490C>T (p.Arg1164Trp) variant DOID:9005349 Three M Syndrome 1 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Three M syndrome 1 PMID:25741868|PMID:28492532 10048073 CV192133 NM_015294.6(TRIM37):c.2049C>T (p.Ala683=) variant DOID:0050436 mulibrey nanism IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Mulibrey nanism syndrome PMID:28492532 10048074 CV192134 NM_015311.3(OBSL1):c.5309-4C>G variant DOID:9006598 Three M Syndrome 2 IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Three M syndrome 2 PMID:25741868|PMID:28492532 10048076 CV192140 NM_020631.6(PLEKHG5):c.2163G>A (p.Glu721=) variant DOID:0111213 autosomal recessive distal hereditary motor neuronopathy 4 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 4 PMID:25741868|PMID:28492532 10048076 CV192140 NM_020631.6(PLEKHG5):c.2163G>A (p.Glu721=) variant DOID:630 genetic disease IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10048077 CV192142 NM_020822.3(KCNT1):c.2235C>T (p.Ser745=) variant DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 IAGP D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:25741868|PMID:26467025|PMID:28492532 10048077 CV192142 NM_020822.3(KCNT1):c.2235C>T (p.Ser745=) variant DOID:0080439 developmental and epileptic encephalopathy 14 IAGP D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:25741868|PMID:26467025|PMID:28492532 10048077 CV192142 NM_020822.3(KCNT1):c.2235C>T (p.Ser745=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 10048078 CV192146 NM_001366722.1(GRIP1):c.2606G>A (p.Arg869Gln) variant DOID:0111406 Fraser syndrome 3 IAGP D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: FRASER SYNDROME 3 PMID:25741868|PMID:28492532 10048078 CV192146 NM_001366722.1(GRIP1):c.2606G>A (p.Arg869Gln) variant DOID:1059 intellectual disability IAGP D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 10048082 CV192153 NM_182961.4(SYNE1):c.1983C>T (p.Asn661=) variant DOID:0070249 autosomal dominant Emery-Dreifuss muscular dystrophy 4 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant PMID:25741868|PMID:26467025|PMID:28178086|PMID:28492532 10048082 CV192153 NM_182961.4(SYNE1):c.1983C>T (p.Asn661=) variant DOID:0111618 autosomal recessive spinocerebellar ataxia 8 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type PMID:25741868|PMID:26467025|PMID:28178086|PMID:28492532 10048083 CV192164 NM_213599.3(ANO5):c.2172_2178del (p.Ala724_His725insTer) variant DOID:0111533 gnathodiaphyseal dysplasia IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Gnathodiaphyseal dysplasia PMID:21186264|PMID:23606453|PMID:25891276|PMID:28492532|PMID:30919934|PMID:31127727 10048084 CV192165 NM_213599.3(ANO5):c.2176dup (p.Ser726fs) variant DOID:0110284 autosomal recessive limb-girdle muscular dystrophy type 2L IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2L PMID:21186264|PMID:23606453|PMID:25741868|PMID:25891276|PMID:28492532|PMID:30919934 10048084 CV192165 NM_213599.3(ANO5):c.2176dup (p.Ser726fs) variant DOID:0111533 gnathodiaphyseal dysplasia IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta with unusual skeletal lesions PMID:21186264|PMID:23606453|PMID:25741868|PMID:25891276|PMID:28492532|PMID:30919934 10048085 CV192173 NM_000070.3(CAPN3):c.319G>A (p.Glu107Lys) variant DOID:0110275 autosomal recessive limb-girdle muscular dystrophy type 2A IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2A PMID:10330340|PMID:16141003|PMID:24033266|PMID:25741868|PMID:26060040|PMID:26467025|PMID:28492532 10048086 CV192175 NM_000089.4(COL1A2):c.71-7del variant DOID:0110334 osteogenesis imperfecta type 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type I PMID:28492532 10048087 CV192176 NM_000093.5(COL5A1):c.240C>T (p.Asp80=) variant DOID:0080727 Ehlers-Danlos syndrome arthrochalasia type 1 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 7A PMID:25741868|PMID:28492532 10048087 CV192176 NM_000093.5(COL5A1):c.240C>T (p.Asp80=) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10048087 CV192176 NM_000093.5(COL5A1):c.240C>T (p.Asp80=) variant DOID:14720 Ehlers-Danlos syndrome classic type 1 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:25741868|PMID:28492532 10048087 CV192176 NM_000093.5(COL5A1):c.240C>T (p.Asp80=) variant DOID:9003323 Multifocal Fibromuscular Dysplasia IAGP D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: FIBROMUSCULAR DYSPLASIA, MULTIFOCAL PMID:25741868|PMID:28492532 10048088 CV192182 NM_000153.4(GALC):c.205C>T (p.Arg69Ter) variant DOID:10587 Krabbe disease IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency PMID:16607461|PMID:20886637|PMID:21824559|PMID:25741868|PMID:26795590|PMID:28492532|PMID:7437911|PMID:9272171 10048089 CV192186 NM_000162.5(GCK):c.118G>A (p.Glu40Lys) variant DOID:0111100 maturity-onset diabetes of the young type 2 IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 2 PMID:12627330|PMID:22332836|PMID:25741868 10048089 CV192186 NM_000162.5(GCK):c.118G>A (p.Glu40Lys) variant DOID:9351 diabetes mellitus IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:12627330|PMID:22332836|PMID:25741868 10048090 CV192187 NM_000166.6(GJB1):c.271G>A (p.Val91Met) variant DOID:0050542 Charcot-Marie-Tooth disease type X IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:11140841|PMID:11571214|PMID:19448103|PMID:22464564|PMID:25741868|PMID:27027447|PMID:27844031|PMID:28097225|PMID:28448691|PMID:28492532 10048090 CV192187 NM_000166.6(GJB1):c.271G>A (p.Val91Met) variant DOID:0110209 Charcot-Marie-Tooth disease X-linked dominant 1 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked dominant 1 PMID:11140841|PMID:11571214|PMID:19448103|PMID:22464564|PMID:25741868|PMID:27027447|PMID:27844031|PMID:28097225|PMID:28448691|PMID:28492532 10048091 CV192190 NM_000169.3(GLA):c.335G>A (p.Arg112His) variant DOID:14499 Fabry disease IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Fabry disease PMID:11889412|PMID:15776423|PMID:17532296|PMID:17555407|PMID:18205205|PMID:20022777|PMID:21598360|PMID:23691425|PMID:23913314|PMID:23935525|PMID:24033266|PMID:24386359|PMID:25026990|PMID:25040344|PMID:25382311|PMID:25596309|PMID:25741868|PMID:26563328|PMID:27831900|PMID:27979989|PMID:28492532|PMID:30386727|PMID:30594474|PMID:32023956|PMID:33204599|PMID:34803097|PMID:37480128|PMID:7531540 10048092 CV192195 NM_000191.3(HMGCL):c.109G>T (p.Glu37Ter) variant DOID:0070541 3-hydroxy-3-methylglutaryl-CoA lyase deficiency IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase PMID:15308132|PMID:17692550|PMID:19177531|PMID:23465862|PMID:25741868|PMID:28257639|PMID:28492532|PMID:28583327|PMID:9163320|PMID:9439591 10048092 CV192195 NM_000191.3(HMGCL):c.109G>T (p.Glu37Ter) variant DOID:630 genetic disease IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15308132|PMID:17692550|PMID:19177531|PMID:23465862|PMID:25741868|PMID:28257639|PMID:28492532|PMID:28583327|PMID:9163320|PMID:9439591 10048093 CV192196 NM_181486.4(TBX5):c.114C>T (p.Ser38=) variant DOID:0060468 Holt-Oram syndrome IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Holt-Oram syndrome PMID:28492532 10048093 CV192196 NM_181486.4(TBX5):c.114C>T (p.Ser38=) variant DOID:0080334 aortic valve disease 2 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Aortic valve disease 2 PMID:28492532 10048094 CV192199 NM_000202.8(IDS):c.208dup (p.His70fs) variant DOID:12799 mucopolysaccharidosis II IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-II PMID:25741868|PMID:31071499|PMID:9950361 10048095 CV192201 NM_000203.5(IDUA):c.245A>C (p.His82Pro) variant DOID:0111390 mucopolysaccharidosis Ih IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hurler syndrome PMID:12203999|PMID:25741868|PMID:28492532|PMID:8401515 10048095 CV192201 NM_000203.5(IDUA):c.245A>C (p.His82Pro) variant DOID:12802 mucopolysaccharidosis I IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 PMID:12203999|PMID:25741868|PMID:28492532|PMID:8401515 10048096 CV192202 NM_000203.5(IDUA):c.191_192del (p.Tyr64fs) variant DOID:0111390 mucopolysaccharidosis Ih IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hurler syndrome PMID:11735025|PMID:21480867|PMID:25741868|PMID:28492532 10048096 CV192202 NM_000203.5(IDUA):c.191_192del (p.Tyr64fs) variant DOID:12802 mucopolysaccharidosis I IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 PMID:11735025|PMID:21480867|PMID:25741868|PMID:28492532 10048097 CV192206 NM_000217.3(KCNA1):c.237G>A (p.Glu79=) variant DOID:0050989 episodic ataxia type 1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 1 PMID:25741868|PMID:26467025|PMID:28492532 10048098 CV192207 NM_000217.3(KCNA1):c.1296C>G (p.Ser432=) variant DOID:0050989 episodic ataxia type 1 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 1 PMID:25741868|PMID:26467025|PMID:28492532 10048098 CV192207 NM_000217.3(KCNA1):c.1296C>G (p.Ser432=) variant DOID:9003935 Myokymia IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Myokymia PMID:25741868|PMID:26467025|PMID:28492532 10048099 CV192211 NM_000235.4(LIPA):c.46A>C (p.Thr16Pro) variant DOID:0080217 lysosomal acid lipase deficiency IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Lysosomal acid lipase deficiency PMID:25741868|PMID:28492532 10048099 CV192211 NM_000235.4(LIPA):c.46A>C (p.Thr16Pro) variant DOID:14497 Wolman disease IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Wolman disease PMID:25741868|PMID:28492532 10048099 CV192211 NM_000235.4(LIPA):c.46A>C (p.Thr16Pro) variant DOID:9004186 Wolman Disease with Hypolipoproteinemia and Acanthocytosis IAGP D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Wolman disease with hypolipoproteinemia and acanthocytosis PMID:25741868|PMID:28492532 10048100 CV192212 NM_000243.3(MEFV):c.329T>C (p.Leu110Pro) variant DOID:2935 Chediak-Higashi syndrome IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:10854105|PMID:11464238|PMID:17329916|PMID:19531756|PMID:19877056|PMID:19967574|PMID:20721559|PMID:21413889|PMID:22467954|PMID:22903357|PMID:23166428|PMID:24383976|PMID:24469716|PMID:24929125|PMID:25261100|PMID:25741868|PMID:26003477|PMID:27100444|PMID:27473114|PMID:28492532|PMID:29599418|PMID:33331265|PMID:33497256|PMID:33733382 10048100 CV192212 NM_000243.3(MEFV):c.329T>C (p.Leu110Pro) variant DOID:2987 familial Mediterranean fever IAGP D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Familial Mediterranean fever PMID:10854105|PMID:11464238|PMID:17329916|PMID:19531756|PMID:19877056|PMID:19967574|PMID:20721559|PMID:21413889|PMID:22467954|PMID:22903357|PMID:23166428|PMID:24383976|PMID:24469716|PMID:24929125|PMID:25261100|PMID:25741868|PMID:26003477|PMID:27100444|PMID:27473114|PMID:28492532|PMID:29599418|PMID:33331265|PMID:33497256|PMID:33733382 10048101 CV192213 NM_000263.4(NAGLU):c.531+50G>C variant DOID:0110178 Charcot-Marie-Tooth disease axonal type 2V IAGP D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal type 2V PMID:25741868 10048101 CV192213 NM_000263.4(NAGLU):c.531+50G>C variant DOID:0111394 mucopolysaccharidosis type IIIB IAGP D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-B PMID:25741868 10048103 CV192231 NM_000346.4(SOX9):c.685+8G>A variant DOID:0050463 campomelic dysplasia IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Camptomelic dysplasia PMID:25741868|PMID:28492532 10048103 CV192231 NM_000346.4(SOX9):c.685+8G>A variant DOID:65 connective tissue disease IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 10048104 CV192232 NM_000381.4(MID1):c.588C>G (p.Ala196=) variant DOID:0080697 Opitz GBBB syndrome IAGP D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: MID1-related condition PMID:25741868|PMID:28492532 10048104 CV192232 NM_000381.4(MID1):c.588C>G (p.Ala196=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10048106 CV192236 NM_000404.4(GLB1):c.203G>A (p.Arg68Gln) variant DOID:0080501 GM1 gangliosidosis type 2 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: GM1 gangliosidosis type 2 PMID:12644936|PMID:19472408|PMID:22128166|PMID:25741868|PMID:25936995|PMID:28492532|PMID:29439846 10048106 CV192236 NM_000404.4(GLB1):c.203G>A (p.Arg68Gln) variant DOID:0111392 mucopolysaccharidosis type IVB IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-B PMID:12644936|PMID:19472408|PMID:22128166|PMID:25741868|PMID:25936995|PMID:28492532|PMID:29439846 10048106 CV192236 NM_000404.4(GLB1):c.203G>A (p.Arg68Gln) variant DOID:3322 GM1 gangliosidosis IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: GM1 gangliosidosis PMID:12644936|PMID:19472408|PMID:22128166|PMID:25741868|PMID:25936995|PMID:28492532|PMID:29439846 10048107 CV192238 NM_000466.3(PEX1):c.130-9T>C variant DOID:0080476 peroxisome biogenesis disorder 1A IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) PMID:25741868|PMID:28492532 10048107 CV192238 NM_000466.3(PEX1):c.130-9T>C variant DOID:9006420 Zellweger Leukodystrophy IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Zellweger leukodystrophy PMID:25741868|PMID:28492532 10048107 CV192238 NM_000466.3(PEX1):c.130-9T>C variant DOID:905 Zellweger syndrome IAGP D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Zellweger syndrome PMID:25741868|PMID:28492532 10048108 CV192239 NM_000493.4(COL10A1):c.23T>G (p.Leu8Trp) variant DOID:0080021 Schmid metaphyseal chondrodysplasia IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: SPONDYLOMETAPHYSEAL DYSPLASIA, JAPANESE TYPE PMID:25741868|PMID:28492532 10048109 CV192240 NM_000515.5(GH1):c.150C>A (p.Ala50=) variant DOID:0060870 isolated growth hormone deficiency IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Growth hormone deficiency PMID:28492532 10048110 CV192241 NM_000515.5(GH1):c.152T>A (p.Phe51Tyr) variant DOID:0060870 isolated growth hormone deficiency IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Growth hormone deficiency PMID:18473352|PMID:25741868|PMID:28492532 10048110 CV192241 NM_000515.5(GH1):c.152T>A (p.Phe51Tyr) variant DOID:0060872 isolated growth hormone deficiency type II IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Pituitary dwarfism due to isolated growth hormone deficiency autosomal dominant PMID:18473352|PMID:25741868|PMID:28492532 10048111 CV192247 NM_000543.5(SMPD1):c.785_807del (p.Leu262fs) variant DOID:0070111 Niemann-Pick disease type A IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis PMID:12369017|PMID:12712061|PMID:15221801|PMID:15234149|PMID:17011332|PMID:23418865|PMID:25741868|PMID:28492532 10048111 CV192247 NM_000543.5(SMPD1):c.785_807del (p.Leu262fs) variant DOID:0070112 Niemann-Pick disease type B IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis PMID:12369017|PMID:12712061|PMID:15221801|PMID:15234149|PMID:17011332|PMID:23418865|PMID:25741868|PMID:28492532 10048112 CV192248 NM_000543.5(SMPD1):c.559C>T (p.Pro187Ser) variant DOID:0070111 Niemann-Pick disease type A IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis PMID:25741868|PMID:28492532 10048112 CV192248 NM_000543.5(SMPD1):c.559C>T (p.Pro187Ser) variant DOID:0070112 Niemann-Pick disease type B IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis PMID:25741868|PMID:28492532 10048115 CV192252 NM_000543.5(SMPD1):c.887G>A (p.Arg296Gln) variant DOID:0070111 Niemann-Pick disease type A IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis PMID:15221801|PMID:21228398|PMID:25741868|PMID:26499107|PMID:28492532 10048115 CV192252 NM_000543.5(SMPD1):c.887G>A (p.Arg296Gln) variant DOID:0070112 Niemann-Pick disease type B IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis PMID:15221801|PMID:21228398|PMID:25741868|PMID:26499107|PMID:28492532 10048116 CV192253 NM_000550.3(TYRP1):c.278G>A (p.Arg93His) variant DOID:0070097 oculocutaneous albinism type III IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Oculocutaneous albinism type 3 PMID:25741868|PMID:28492532 10048117 CV192254 NM_000551.4(VHL):c.449del (p.Asn150fs) variant DOID:0060474 familial erythrocytosis 2 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Chuvash polycythemia PMID:10567493|PMID:11309459|PMID:18067796|PMID:25741868|PMID:27527340|PMID:28492532|PMID:7728151|PMID:8707293 10048117 CV192254 NM_000551.4(VHL):c.449del (p.Asn150fs) variant DOID:14175 von Hippel-Lindau disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Von Hippel-Lindau syndrome PMID:10567493|PMID:11309459|PMID:18067796|PMID:25741868|PMID:27527340|PMID:28492532|PMID:7728151|PMID:8707293 10048118 CV192258 NM_000642.3(AGL):c.18_19del (p.Gln6fs) variant DOID:2748 glycogen storage disease III IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Glycogen storage disease type III PMID:19299494|PMID:20071996|PMID:20490926|PMID:20526204|PMID:20648714|PMID:25741868|PMID:28492532|PMID:8755644 10048118 CV192258 NM_000642.3(AGL):c.18_19del (p.Gln6fs) variant DOID:9004482 Glycogen Storage Disease IIIB IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IIIb PMID:19299494|PMID:20071996|PMID:20490926|PMID:20526204|PMID:20648714|PMID:25741868|PMID:28492532|PMID:8755644 10048119 CV192264 NM_001005361.3(DNM2):c.162-7C>A variant DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B IAGP D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate B PMID:26467025|PMID:28492532 10048119 CV192264 NM_001005361.3(DNM2):c.162-7C>A variant DOID:0111217 autosomal dominant centronuclear myopathy IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy PMID:26467025|PMID:28492532 10048119 CV192264 NM_001005361.3(DNM2):c.162-7C>A variant DOID:422 congenital structural myopathy IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy PMID:26467025|PMID:28492532 10048120 CV192268 NM_001029883.3(PCARE):c.3739G>A (p.Gly1247Ser) variant DOID:0110364 retinitis pigmentosa 54 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 54 PMID:25741868|PMID:28492532 10048120 CV192268 NM_001029883.3(PCARE):c.3739G>A (p.Gly1247Ser) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532 10048120 CV192268 NM_001029883.3(PCARE):c.3739G>A (p.Gly1247Ser) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532 10048121 CV192272 NM_001101.5(ACTB):c.-6-4G>T variant DOID:0060229 Baraitser-Winter syndrome IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Cerebrofrontofacial syndrome PMID:25741868 10048121 CV192272 NM_001101.5(ACTB):c.-6-4G>T variant DOID:0081112 Baraitser-Winter syndrome 1 IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Iris coloboma with ptosis, hypertelorism, and mental retardation PMID:25741868 10048122 CV192273 NM_001111.5(ADAR):c.1151A>G (p.Lys384Arg) variant DOID:0060257 dyschromatosis symmetrica hereditaria IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities PMID:25741868|PMID:28492532 10048122 CV192273 NM_001111.5(ADAR):c.1151A>G (p.Lys384Arg) variant DOID:9007522 Aicardi-Goutieres Syndrome 6 IAGP D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 6 PMID:25741868|PMID:28492532 10048123 CV192274 NM_001367624.2(ZNF469):c.10975G>A (p.Gly3659Arg) variant DOID:13359 Ehlers-Danlos syndrome IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:25741868|PMID:28492532 10048123 CV192274 NM_001367624.2(ZNF469):c.10975G>A (p.Gly3659Arg) variant DOID:14775 brittle cornea syndrome 1 IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Brittle cornea syndrome 1 PMID:25741868|PMID:28492532 10048124 CV192275 NM_001367624.2(ZNF469):c.10990= (p.Ala3664=) variant DOID:14775 brittle cornea syndrome 1 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility PMID:25741868|PMID:28492532 10048125 CV192276 NM_001367624.2(ZNF469):c.9268C>T (p.Arg3090Ter) variant DOID:14775 brittle cornea syndrome 1 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Brittle cornea syndrome 1 PMID:18452888|PMID:25741868|PMID:28492532 10048126 CV192277 NM_001367624.2(ZNF469):c.10795G>T (p.Ala3599Ser) variant DOID:14775 brittle cornea syndrome 1 IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Brittle cornea syndrome 1 PMID:25741868|PMID:28492532 10048127 CV192279 NM_001367624.2(ZNF469):c.10326G>C (p.Arg3442Ser) variant DOID:13359 Ehlers-Danlos syndrome IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:25741868|PMID:28492532 10048127 CV192279 NM_001367624.2(ZNF469):c.10326G>C (p.Arg3442Ser) variant DOID:14775 brittle cornea syndrome 1 IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Brittle cornea syndrome 1 PMID:25741868|PMID:28492532 10048128 CV192285 NM_001367624.2(ZNF469):c.8076G>A (p.Pro2692=) variant DOID:14775 brittle cornea syndrome 1 IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Brittle cornea syndrome 1 PMID:25741868|PMID:28492532 10048129 CV192286 NM_001367624.2(ZNF469):c.8627A>G (p.His2876Arg) variant DOID:14775 brittle cornea syndrome 1 IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Brittle cornea syndrome 1 PMID:25741868|PMID:28492532 10048130 CV192295 NM_001199107.2(TBC1D24):c.22T>C (p.Cys8Arg) variant DOID:0080468 developmental and epileptic encephalopathy 1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 PMID:24033266|PMID:28492532 10048130 CV192295 NM_001199107.2(TBC1D24):c.22T>C (p.Cys8Arg) variant DOID:0110586 autosomal dominant nonsyndromic deafness 65 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 65 PMID:24033266|PMID:28492532 10048130 CV192295 NM_001199107.2(TBC1D24):c.22T>C (p.Cys8Arg) variant DOID:308 early myoclonic encephalopathy IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile PMID:24033266|PMID:28492532 10048130 CV192295 NM_001199107.2(TBC1D24):c.22T>C (p.Cys8Arg) variant DOID:630 genetic disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:28492532 10048130 CV192295 NM_001199107.2(TBC1D24):c.22T>C (p.Cys8Arg) variant DOID:9007063 Myoclonic Epilepsy, Familial Infantile IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Familial infantile myoclonic epilepsy PMID:24033266|PMID:28492532 10048131 CV192296 NM_001199107.2(TBC1D24):c.785C>T (p.Ser262Leu) variant DOID:0080468 developmental and epileptic encephalopathy 1 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10048131 CV192296 NM_001199107.2(TBC1D24):c.785C>T (p.Ser262Leu) variant DOID:0110586 autosomal dominant nonsyndromic deafness 65 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 65 PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10048131 CV192296 NM_001199107.2(TBC1D24):c.785C>T (p.Ser262Leu) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10048132 CV192297 NM_001200.4(BMP2):c.261A>G (p.Ser87=) variant DOID:9004675 Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies IAGP D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies PMID:25741868|PMID:28492532 10048133 CV192298 NM_001200.4(BMP2):c.109T>G (p.Ser37Ala) variant DOID:9003959 Ventricular Septal Defect 1 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Ventricular septal defect 1 PMID:25741868|PMID:28492532 10048134 CV192301 NM_001235.5(SERPINH1):c.363C>G (p.Ser121=) variant DOID:0110346 osteogenesis imperfecta type 10 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 10 PMID:25741868|PMID:28492532 10048135 CV192302 NM_001235.5(SERPINH1):c.234A>G (p.Leu78=) variant DOID:0110346 osteogenesis imperfecta type 10 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 10 PMID:25741868|PMID:28492532 10048136 CV192309 NM_001844.5(COL2A1):c.258C>A (p.Cys86Ter) variant DOID:0080056 achondrogenesis type II IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Achondrogenesis type II PMID:12429249|PMID:20179744|PMID:23592912|PMID:25741868|PMID:28492532|PMID:28559085 10048137 CV192310 NM_001844.5(COL2A1):c.213C>T (p.Asp71=) variant DOID:0080676 Stickler syndrome 1 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Arthroophthalmopathy, hereditary progressive PMID:25741868|PMID:26467025|PMID:28492532 10048137 CV192310 NM_001844.5(COL2A1):c.213C>T (p.Asp71=) variant DOID:65 connective tissue disease IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disease PMID:25741868|PMID:26467025|PMID:28492532 10048139 CV192315 NM_001853.4(COL9A3):c.93C>A (p.Pro31=) variant DOID:0070304 multiple epiphyseal dysplasia 3 IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, 3 PMID:25741868|PMID:28492532 10048141 CV192318 NM_001918.5(DBT):c.126T>G (p.Tyr42Ter) variant DOID:0061203 maple syrup urine disease type IA IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease type 1A PMID:16579849|PMID:16786533|PMID:25741868|PMID:28492532 10048141 CV192318 NM_001918.5(DBT):c.126T>G (p.Tyr42Ter) variant DOID:9269 maple syrup urine disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:16579849|PMID:16786533|PMID:25741868|PMID:28492532 10048142 CV192323 NM_002180.3(IGHMBP2):c.132C>T (p.Gly44=) variant DOID:0111064 autosomal recessive distal hereditary motor neuronopathy 1 IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy, distal, autosomal recessive, 1 PMID:25741868|PMID:28492532 10048142 CV192323 NM_002180.3(IGHMBP2):c.132C>T (p.Gly44=) variant DOID:10595 Charcot-Marie-Tooth disease IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:25741868|PMID:28492532 10048143 CV192330 NM_002381.5(MATN3):c.447C>T (p.Ala149=) variant DOID:0070299 multiple epiphyseal dysplasia 5 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: MICROEPIPHYSEAL DYSPLASIA, BILATERAL HEREDITARY PMID:25741868|PMID:28492532 10048144 CV192331 NM_002381.5(MATN3):c.615G>A (p.Glu205=) variant DOID:0070299 multiple epiphyseal dysplasia 5 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: MICROEPIPHYSEAL DYSPLASIA, BILATERAL HEREDITARY PMID:25741868|PMID:28492532 10048145 CV192333 NM_002437.5(MPV17):c.27G>T (p.Arg9=) variant DOID:0070329 mitochondrial DNA depletion syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome PMID:28492532 10048145 CV192333 NM_002437.5(MPV17):c.27G>T (p.Arg9=) variant DOID:0080125 mitochondrial DNA depletion syndrome 6 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) PMID:28492532 10048145 CV192333 NM_002437.5(MPV17):c.27G>T (p.Arg9=) variant DOID:0111559 Charcot-Marie-Tooth disease type 2EE IAGP D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: MPV17-related condition PMID:28492532 10048146 CV192340 NM_002693.3(POLG):c.134A>G (p.Gln45Arg) variant DOID:0080122 Alpers-Huttenlocher syndrome IAGP D RGD:8554872 20190702 ClinVar ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy PMID:19578034|PMID:21880868|PMID:25741868|PMID:26467025|PMID:28492532 10048146 CV192340 NM_002693.3(POLG):c.134A>G (p.Gln45Arg) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19578034|PMID:21880868|PMID:25741868|PMID:26467025|PMID:28492532 10048149 CV192361 NM_001367721.1(CASK):c.79C>T (p.Arg27Ter) variant DOID:0060807 syndromic X-linked intellectual disability Najm type IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Najm type PMID:19165920|PMID:20029458|PMID:21735175|PMID:21954287|PMID:22452838|PMID:22709267|PMID:25326635|PMID:25741868|PMID:25886057|PMID:28492532|PMID:31474318|PMID:35670295 10048149 CV192361 NM_001367721.1(CASK):c.79C>T (p.Arg27Ter) variant DOID:0070338 cerebellar hypoplasia IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:19165920|PMID:20029458|PMID:21735175|PMID:21954287|PMID:22452838|PMID:22709267|PMID:25326635|PMID:25741868|PMID:25886057|PMID:28492532|PMID:31474318|PMID:35670295 10048150 CV192363 NM_003701.4(TNFSF11):c.387+14G>A variant DOID:0110943 autosomal recessive osteopetrosis 2 IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 2 PMID:25741868|PMID:28492532 10048151 CV192364 NM_003907.3(EIF2B5):c.318A>T (p.Leu106Phe) variant DOID:0060868 leukoencephalopathy with vanishing white matter IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter PMID:11704758|PMID:14993275|PMID:25089094|PMID:25326635|PMID:25741868|PMID:28492532|PMID:31418856 10048151 CV192364 NM_003907.3(EIF2B5):c.318A>T (p.Leu106Phe) variant DOID:0070367 leukoencephalopathy with vanishing white matter 5 IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Cree leukoencephalopathy PMID:11704758|PMID:14993275|PMID:25089094|PMID:25326635|PMID:25741868|PMID:28492532|PMID:31418856 10048151 CV192364 NM_003907.3(EIF2B5):c.318A>T (p.Leu106Phe) variant DOID:0070374 leukoencephalopathy with vanishing white matter 1 IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter 1 PMID:11704758|PMID:14993275|PMID:25089094|PMID:25326635|PMID:25741868|PMID:28492532|PMID:31418856 10048151 CV192364 NM_003907.3(EIF2B5):c.318A>T (p.Leu106Phe) variant DOID:630 genetic disease IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11704758|PMID:14993275|PMID:25089094|PMID:25326635|PMID:25741868|PMID:28492532|PMID:31418856 10048151 CV192364 NM_003907.3(EIF2B5):c.318A>T (p.Leu106Phe) variant DOID:9002704 Leukoencephalopathies IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: CACH syndrome PMID:11704758|PMID:14993275|PMID:25089094|PMID:25326635|PMID:25741868|PMID:28492532|PMID:31418856 10048152 CV192366 NM_004004.6(GJB2):c.465T>A (p.Tyr155Ter) variant DOID:0110475 autosomal recessive nonsyndromic deafness 1A IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1A PMID:20863150|PMID:25741868 10048155 CV192381 NM_004393.6(DAG1):c.258G>C (p.Leu86Phe) variant DOID:0110293 autosomal recessive limb-girdle muscular dystrophy type 2P IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 PMID:25741868|PMID:26467025|PMID:28492532|PMID:29970176|PMID:30838779 10048155 CV192381 NM_004393.6(DAG1):c.258G>C (p.Leu86Phe) variant DOID:0111232 congenital muscular dystrophy-dystroglycanopathy type A9 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 PMID:25741868|PMID:26467025|PMID:28492532|PMID:29970176|PMID:30838779 10048156 CV192383 NM_004453.4(ETFDH):c.51dup (p.Ala18fs) variant DOID:0060358 multiple acyl-CoA dehydrogenase deficiency IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency PMID:12359134|PMID:12815589|PMID:16510302|PMID:17584774|PMID:23785301|PMID:25741868|PMID:28468868|PMID:28492532 10048157 CV192386 NM_004482.4(GALNT3):c.132A>G (p.Gln44=) variant DOID:9007992 Hyperphosphatemic Familial Tumoral Calcinosis 1 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1 PMID:25741868|PMID:28492532 10048159 CV192389 NM_004727.3(SLC24A1):c.931G>C (p.Val311Leu) variant DOID:0110868 congenital stationary night blindness 1D IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness, type 1D PMID:25741868|PMID:28492532 10048160 CV192393 NM_004820.5(CYP7B1):c.123-9del variant DOID:2476 hereditary spastic paraplegia IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:25741868|PMID:26467025|PMID:28492532 10048160 CV192393 NM_004820.5(CYP7B1):c.123-9del variant DOID:607 paraplegia IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:25741868|PMID:26467025|PMID:28492532 10048161 CV192398 NM_001256789.3(CACNA1F):c.244C>T (p.Arg82Ter) variant DOID:0050630 Aland Island eye disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ocular albinism, type II PMID:11281458|PMID:17525176|PMID:22194652|PMID:24124559|PMID:26992781|PMID:28492532|PMID:30718709|PMID:9662399 10048161 CV192398 NM_001256789.3(CACNA1F):c.244C>T (p.Arg82Ter) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11281458|PMID:17525176|PMID:22194652|PMID:24124559|PMID:26992781|PMID:28492532|PMID:30718709|PMID:9662399 10048162 CV192400 NM_005199.5(CHRNG):c.117dup (p.Asn40fs) variant DOID:0081322 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Autosomal recessive multiple pterygium syndrome PMID:16826520|PMID:24319099|PMID:25741868|PMID:28492532|PMID:33820833 10048162 CV192400 NM_005199.5(CHRNG):c.117dup (p.Asn40fs) variant DOID:630 genetic disease IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16826520|PMID:24319099|PMID:25741868|PMID:28492532|PMID:33820833 10048162 CV192400 NM_005199.5(CHRNG):c.117dup (p.Asn40fs) variant DOID:9005962 Multiple Pterygium Syndrome, Lethal Type IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Lethal multiple pterygium syndrome PMID:16826520|PMID:24319099|PMID:25741868|PMID:28492532|PMID:33820833 10048163 CV192419 NM_001354768.3(NRL):c.151C>T (p.Pro51Ser) variant DOID:0110397 retinitis pigmentosa 27 IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 27 PMID:11385710|PMID:11879142|PMID:15591106|PMID:17335001|PMID:21981118|PMID:25741868|PMID:28492532 10048165 CV192426 NM_006371.5(CRTAP):c.534C>T (p.Asp178=) variant DOID:0110337 osteogenesis imperfecta type 7 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 7 PMID:25741868|PMID:28492532 10048166 CV192427 NM_006371.5(CRTAP):c.558A>G (p.Ala186=) variant DOID:0110337 osteogenesis imperfecta type 7 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 7 PMID:25741868|PMID:28492532 10048166 CV192427 NM_006371.5(CRTAP):c.558A>G (p.Ala186=) variant DOID:12347 osteogenesis imperfecta IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:25741868|PMID:28492532 10048169 CV192436 NM_012179.4(FBXO7):c.345G>A (p.Met115Ile) variant DOID:0060372 Parkinson's disease 15 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Parkinsonian-pyramidal syndrome PMID:25741868|PMID:28492532 10048170 CV192437 NM_012188.5(FOXI1):c.726C>T (p.Ser242=) variant DOID:0110498 autosomal recessive nonsyndromic deafness 4 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct PMID:20621367|PMID:26467025|PMID:28492532 10048171 CV192447 NM_001199397.3(NEK1):c.117+1G>A variant DOID:0110092 short-rib thoracic dysplasia 6 with or without polydactyly IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly PMID:16199547|PMID:22499340|PMID:28492532|PMID:29068549 10048174 CV192460 NM_014780.5(CUL7):c.465A>T (p.Gly155=) variant DOID:9005349 Three M Syndrome 1 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Three M syndrome 1 PMID:28492532 10048175 CV192463 NM_014780.5(CUL7):c.533G>T (p.Arg178Leu) variant DOID:9005349 Three M Syndrome 1 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Three M syndrome 1 PMID:28492532 10048176 CV192467 NM_015311.3(OBSL1):c.1273dup (p.Thr425fs) variant DOID:9006598 Three M Syndrome 2 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: 3M syndrome 2 PMID:19481195|PMID:19877176|PMID:25741868|PMID:25923536|PMID:27796265|PMID:28492532|PMID:28969986 10048179 CV192482 NM_017780.4(CHD7):c.469C>T (p.Arg157Ter) variant DOID:0050834 CHARGE syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CHARGE association PMID:15300250|PMID:16155193|PMID:17661815|PMID:20624498|PMID:21158681|PMID:21554267|PMID:22461308|PMID:23024289|PMID:25077900|PMID:25741868|PMID:26538304|PMID:28492532 10048179 CV192482 NM_017780.4(CHD7):c.469C>T (p.Arg157Ter) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15300250|PMID:16155193|PMID:17661815|PMID:20624498|PMID:21158681|PMID:21554267|PMID:22461308|PMID:23024289|PMID:25077900|PMID:25741868|PMID:26538304|PMID:28492532 10048179 CV192482 NM_017780.4(CHD7):c.469C>T (p.Arg157Ter) variant DOID:9004226 Hittner Hirsch Kreh Syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome PMID:15300250|PMID:16155193|PMID:17661815|PMID:20624498|PMID:21158681|PMID:21554267|PMID:22461308|PMID:23024289|PMID:25077900|PMID:25741868|PMID:26538304|PMID:28492532 10048180 CV192487 NM_017780.4(CHD7):c.712G>A (p.Val238Met) variant DOID:0050834 CHARGE syndrome IAGP D RGD:8554872 20180807 ClinVar ClinVar Annotator: match by term: CHARGE association PMID:25741868|PMID:28492532 10048182 CV192491 NM_017780.4(CHD7):c.1536A>G (p.Pro512=) variant DOID:0050834 CHARGE syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CHARGE association PMID:25741868|PMID:26467025|PMID:28492532 10048182 CV192491 NM_017780.4(CHD7):c.1536A>G (p.Pro512=) variant DOID:0090084 hypogonadotropic hypogonadism 5 with or without anosmia IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 5 with or without anosmia PMID:25741868|PMID:26467025|PMID:28492532 10048182 CV192491 NM_017780.4(CHD7):c.1536A>G (p.Pro512=) variant DOID:630 genetic disease IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 10048182 CV192491 NM_017780.4(CHD7):c.1536A>G (p.Pro512=) variant DOID:9004226 Hittner Hirsch Kreh Syndrome IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome PMID:25741868|PMID:26467025|PMID:28492532 10048184 CV192498 NM_001127649.3(PEX26):c.130C>T (p.Leu44Phe) variant DOID:0080482 peroxisome biogenesis disorder 7A IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 7A PMID:25741868|PMID:28492532 10048185 CV192500 NM_018297.4(NGLY1):c.132-14T>C variant DOID:0060991 congenital disorder of deglycosylation IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Congenital disorder of deglycosylation PMID:25741868|PMID:28492532 10048186 CV192509 NM_018941.4(CLN8):c.11C>T (p.Ala4Val) variant DOID:0110724 neuronal ceroid lipofuscinosis 8 northern epilepsy variant IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 8 northern epilepsy variant PMID:28492532 10048186 CV192509 NM_018941.4(CLN8):c.11C>T (p.Ala4Val) variant DOID:14503 neuronal ceroid lipofuscinosis IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 10048186 CV192509 NM_018941.4(CLN8):c.11C>T (p.Ala4Val) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10048187 CV192511 NM_018965.4(TREM2):c.140G>A (p.Arg47His) variant DOID:0110049 Alzheimer's disease 17 IAGP D RGD:8554872 20250821 ClinVar ClinVar Annotator: match by term: TREM2-related disorder PMID:25741868|PMID:28492532 10048187 CV192511 NM_018965.4(TREM2):c.140G>A (p.Arg47His) variant DOID:10652 Alzheimer's disease IAGP D RGD:405850206 20250917 GWAS_CATALOG Based on the EFO term ID PMID:28714976 10048187 CV192511 NM_018965.4(TREM2):c.140G>A (p.Arg47His) variant DOID:9003895 Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 2 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 PMID:25741868|PMID:28492532 10048188 CV192513 NM_019109.5(ALG1):c.262T>G (p.Leu88Val) variant DOID:0080563 congenital disorder of glycosylation Ik IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1K PMID:26931382|PMID:28492532 10048188 CV192513 NM_019109.5(ALG1):c.262T>G (p.Leu88Val) variant DOID:5212 congenital disorder of glycosylation IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:26931382|PMID:28492532 10048189 CV192514 NM_020223.4(FAM20C):c.646G>A (p.Gly216Arg) variant DOID:9000666 Raine Syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: FAM20C-related condition PMID:28492532 10048190 CV192516 NM_020366.4(RPGRIP1):c.154C>T (p.Arg52Ter) variant DOID:0110329 Leber congenital amaurosis 6 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 6 PMID:11528500|PMID:23105016|PMID:25741868|PMID:28456785|PMID:28492532|PMID:31736247 10048190 CV192516 NM_020366.4(RPGRIP1):c.154C>T (p.Arg52Ter) variant DOID:0111016 cone-rod dystrophy 13 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 13 PMID:11528500|PMID:23105016|PMID:25741868|PMID:28456785|PMID:28492532|PMID:31736247 10048190 CV192516 NM_020366.4(RPGRIP1):c.154C>T (p.Arg52Ter) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:11528500|PMID:23105016|PMID:25741868|PMID:28456785|PMID:28492532|PMID:31736247 10048191 CV192518 NM_020436.5(SALL4):c.2290T>C (p.Ser764Pro) variant DOID:0060747 Duane-radial ray syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Duane-radial ray syndrome PMID:28492532 10048192 CV192520 NM_020436.5(SALL4):c.1353C>T (p.Ala451=) variant DOID:0060747 Duane-radial ray syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Duane-radial ray syndrome PMID:25741868|PMID:28492532 10048193 CV192521 NM_020436.5(SALL4):c.1779G>T (p.Pro593=) variant DOID:0060747 Duane-radial ray syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Duane-radial ray syndrome PMID:25741868|PMID:28492532 10048194 CV192522 NM_020436.5(SALL4):c.1497G>T (p.Thr499=) variant DOID:0060747 Duane-radial ray syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Duane-radial ray syndrome PMID:25741868|PMID:28492532 10048195 CV192523 NM_020436.5(SALL4):c.2215G>T (p.Ala739Ser) variant DOID:0060747 Duane-radial ray syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Duane-radial ray syndrome PMID:25741868|PMID:28492532 10048196 CV192528 NM_021101.5(CLDN1):c.369T>C (p.Gly123=) variant DOID:9007711 ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Neonatal ichthyosis-sclerosing cholangitis syndrome PMID:25741868|PMID:28492532 10048197 CV192529 NM_021625.5(TRPV4):c.33G>T (p.Gly11=) variant DOID:0050690 brachyolmia IAGP D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Brachyolmia PMID:22851605|PMID:25741868|PMID:26467025|PMID:28492532 10048197 CV192529 NM_021625.5(TRPV4):c.33G>T (p.Gly11=) variant DOID:0110182 Charcot-Marie-Tooth disease axonal type 2C IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2C PMID:22851605|PMID:25741868|PMID:26467025|PMID:28492532 10048197 CV192529 NM_021625.5(TRPV4):c.33G>T (p.Gly11=) variant DOID:0111215 autosomal dominant distal hereditary motor neuronopathy 8 IAGP D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy, congenital nonprogressive PMID:22851605|PMID:25741868|PMID:26467025|PMID:28492532 10048197 CV192529 NM_021625.5(TRPV4):c.33G>T (p.Gly11=) variant DOID:0111514 metatropic dysplasia IAGP D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Metatrophic dysplasia PMID:22851605|PMID:25741868|PMID:26467025|PMID:28492532 10048197 CV192529 NM_021625.5(TRPV4):c.33G>T (p.Gly11=) variant DOID:0111552 scapuloperoneal spinal muscular atrophy IAGP D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Scapuloperoneal spinal muscular atrophy PMID:22851605|PMID:25741868|PMID:26467025|PMID:28492532 10048197 CV192529 NM_021625.5(TRPV4):c.33G>T (p.Gly11=) variant DOID:0111554 spondylometaphyseal dysplasia Kozlowski type IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Spondylometaphyseal dysplasia, Kozlowski type PMID:22851605|PMID:25741868|PMID:26467025|PMID:28492532 10048197 CV192529 NM_021625.5(TRPV4):c.33G>T (p.Gly11=) variant DOID:10595 Charcot-Marie-Tooth disease IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:22851605|PMID:25741868|PMID:26467025|PMID:28492532 10048197 CV192529 NM_021625.5(TRPV4):c.33G>T (p.Gly11=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22851605|PMID:25741868|PMID:26467025|PMID:28492532 10048197 CV192529 NM_021625.5(TRPV4):c.33G>T (p.Gly11=) variant DOID:65 connective tissue disease IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:22851605|PMID:25741868|PMID:26467025|PMID:28492532 10048197 CV192529 NM_021625.5(TRPV4):c.33G>T (p.Gly11=) variant DOID:9003559 Brachyolmia Type 3 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Brachyolmia Type 3 PMID:22851605|PMID:25741868|PMID:26467025|PMID:28492532 10048198 CV192535 NM_001378477.3(NYX):c.1202C>G (p.Ala401Gly) variant DOID:0110870 congenital stationary night blindness 1A IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness, type 1A PMID:28492532 10048202 CV192545 NM_030973.4(MED25):c.165G>A (p.Thr55=) variant DOID:0050539 Charcot-Marie-Tooth disease type 2 IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 PMID:25741868|PMID:28492532 10048202 CV192545 NM_030973.4(MED25):c.165G>A (p.Thr55=) variant DOID:10595 Charcot-Marie-Tooth disease IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:25741868|PMID:28492532 10048203 CV192548 NM_031471.6(FERMT3):c.159C>G (p.Ile53Met) variant DOID:0110912 leukocyte adhesion deficiency 3 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:25741868|PMID:28492532 10048204 CV192549 NM_031471.6(FERMT3):c.130G>A (p.Gly44Arg) variant DOID:0110912 leukocyte adhesion deficiency 3 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency, type III PMID:28492532 10048205 CV192552 NM_032601.4(MCEE):c.102C>G (p.Pro34=) variant DOID:9000454 Methylmalonyl-CoA Epimerase Deficiency IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Methylmalonyl-CoA epimerase deficiency PMID:28492532 10048206 CV192553 NM_001319074.4(RAX2):c.45T>G (p.Gly15=) variant DOID:0110018 age related macular degeneration 6 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Age related macular degeneration 6 PMID:25741868|PMID:28492532 10048206 CV192553 NM_001319074.4(RAX2):c.45T>G (p.Gly15=) variant DOID:0111018 cone-rod dystrophy 11 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 11 PMID:25741868|PMID:28492532 10048207 CV192559 NM_001159773.2(CANT1):c.159T>C (p.Ala53=) variant DOID:9007521 Desbuquois Dysplasia 1 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Desbuquois dysplasia 1 PMID:25741868|PMID:28492532 10048210 CV192577 NM_152618.3(BBS12):c.1286G>C (p.Ser429Thr) variant DOID:0110123 Bardet-Biedl syndrome 1 IAGP D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 PMID:25741868|PMID:28492532 10048210 CV192577 NM_152618.3(BBS12):c.1286G>C (p.Ser429Thr) variant DOID:0110134 Bardet-Biedl syndrome 12 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 12 PMID:25741868|PMID:28492532 10048210 CV192577 NM_152618.3(BBS12):c.1286G>C (p.Ser429Thr) variant DOID:1935 Bardet-Biedl syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:25741868|PMID:28492532 10048212 CV192582 NM_153212.3(GJB4):c.153del (p.Phe51fs) variant DOID:0080248 erythrokeratodermia variabilis et progressiva 2 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 2 PMID:11933201|PMID:25741868|PMID:28492532 10048214 CV192585 NM_153252.5(BRWD3):c.33G>A (p.Glu11=) variant DOID:0112045 non-syndromic X-linked intellectual disability 93 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Mental retardation, X-linked 93 PMID:25741868|PMID:28492532 10048214 CV192585 NM_153252.5(BRWD3):c.33G>A (p.Glu11=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10048215 CV192586 NM_153717.3(EVC):c.284A>G (p.Asp95Gly) variant DOID:12712 nephronophthisis IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:25741868|PMID:28492532 10048215 CV192586 NM_153717.3(EVC):c.284A>G (p.Asp95Gly) variant DOID:12714 Ellis-Van Creveld syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld Syndrome PMID:25741868|PMID:28492532 10048216 CV192589 NM_173495.3(PTCHD1):c.657C>T (p.Asn219=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10048217 CV192594 NM_001291867.2(NHS):c.666C>T (p.Cys222=) variant DOID:0060599 Nance-Horan syndrome IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Nance-Horan syndrome PMID:28492532 10048217 CV192594 NM_001291867.2(NHS):c.666C>T (p.Cys222=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10048218 CV192598 NM_198506.5(LRIT3):c.524G>A (p.Ser175Asn) variant DOID:0050534 congenital stationary night blindness IAGP D RGD:8554872 20211109 ClinVar ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Recessive PMID:25741868|PMID:28492532 10048218 CV192598 NM_198506.5(LRIT3):c.524G>A (p.Ser175Asn) variant DOID:0110864 congenital stationary night blindness 1F IAGP D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness, type 1F PMID:25741868|PMID:28492532 10048219 CV192599 NM_198506.5(LRIT3):c.331C>G (p.Arg111Gly) variant DOID:0050534 congenital stationary night blindness IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Recessive PMID:25741868|PMID:28492532 10048220 CV192600 NM_198506.5(LRIT3):c.565C>T (p.Leu189Phe) variant DOID:0050534 congenital stationary night blindness IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Recessive PMID:25741868|PMID:28492532 10048221 CV192602 NM_198525.3(KIF7):c.61C>T (p.Arg21Ter) variant DOID:9250 acrocallosal syndrome IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Acrocallosal syndrome PMID:19666503|PMID:21552264|PMID:21633164|PMID:25741868|PMID:26648833|PMID:28492532 10048222 CV192606 NM_207122.2(EXT2):c.28C>A (p.Arg10=) variant DOID:9003050 Multiple Exostoses Type I IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: EXT PMID:25741868|PMID:28492532 10048222 CV192606 NM_207122.2(EXT2):c.28C>A (p.Arg10=) variant DOID:9003693 Multiple Exostoses Type II IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Multiple exostoses type 2 PMID:25741868|PMID:28492532 10048223 CV192612 NM_000088.4(COL1A1):c.1300-8C>T variant DOID:0080727 Ehlers-Danlos syndrome arthrochalasia type 1 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasia type PMID:25741868|PMID:26467025|PMID:28492532 10048223 CV192612 NM_000088.4(COL1A1):c.1300-8C>T variant DOID:0110334 osteogenesis imperfecta type 1 IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type I PMID:25741868|PMID:26467025|PMID:28492532 10048223 CV192612 NM_000088.4(COL1A1):c.1300-8C>T variant DOID:12347 osteogenesis imperfecta IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:25741868|PMID:26467025|PMID:28492532 10048223 CV192612 NM_000088.4(COL1A1):c.1300-8C>T variant DOID:13359 Ehlers-Danlos syndrome IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:25741868|PMID:26467025|PMID:28492532 10048223 CV192612 NM_000088.4(COL1A1):c.1300-8C>T variant DOID:4257 Caffey disease IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Infantile cortical hyperostosis PMID:25741868|PMID:26467025|PMID:28492532 10048224 CV192615 NM_000090.4(COL3A1):c.1348-4dup variant DOID:9001287 Ehlers-Danlos Syndrome Type 4 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4 PMID:28492532 10048225 CV192617 NM_000282.4(PCCA):c.1788G>A (p.Trp596Ter) variant DOID:14701 propionic acidemia IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:15464417|PMID:27489777|PMID:28492532 10048226 CV192619 NM_000368.5(TSC1):c.2515_2518del (p.Glu839fs) variant DOID:0080324 tuberous sclerosis 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:10227394|PMID:17304050|PMID:21520333|PMID:25741868|PMID:28492532 10048227 CV192620 NM_000414.4(HSD17B4):c.1767+8T>C variant DOID:0050857 Perrault syndrome IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Perrault syndrome PMID:24033266|PMID:25741868|PMID:28492532 10048227 CV192620 NM_000414.4(HSD17B4):c.1767+8T>C variant DOID:0090031 D-bifunctional protein deficiency IAGP D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Bifunctional peroxisomal enzyme deficiency PMID:24033266|PMID:25741868|PMID:28492532 10048227 CV192620 NM_000414.4(HSD17B4):c.1767+8T>C variant DOID:9003326 Perrault Syndrome 1 IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Bifunctional peroxisomal enzyme deficiency PMID:24033266|PMID:25741868|PMID:28492532 10048228 CV192623 NM_000440.3(PDE6A):c.2332_2335del (p.Asp778fs) variant DOID:0110379 retinitis pigmentosa 43 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 43 PMID:22128245|PMID:23847139|PMID:25741868|PMID:28492532|PMID:30718709|PMID:3196484|PMID:33057649|PMID:7493036 10048228 CV192623 NM_000440.3(PDE6A):c.2332_2335del (p.Asp778fs) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive PMID:22128245|PMID:23847139|PMID:25741868|PMID:28492532|PMID:30718709|PMID:3196484|PMID:33057649|PMID:7493036 10048228 CV192623 NM_000440.3(PDE6A):c.2332_2335del (p.Asp778fs) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:22128245|PMID:23847139|PMID:25741868|PMID:28492532|PMID:30718709|PMID:3196484|PMID:33057649|PMID:7493036 10048229 CV192626 NM_000528.4(MAN2B1):c.2402dup (p.Ser802fs) variant DOID:3413 alpha-mannosidosis IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:22161967|PMID:25741868|PMID:26048034|PMID:26633546|PMID:28492532|PMID:9915946 10048230 CV192629 NM_020779.4(WDR35):c.2149A>G (p.Ile717Val) variant DOID:0080804 cranioectodermal dysplasia 2 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 PMID:25741868|PMID:28492532 10048230 CV192629 NM_020779.4(WDR35):c.2149A>G (p.Ile717Val) variant DOID:0110090 short-rib thoracic dysplasia 7 with or without polydactyly IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 7 with or without polydactyly PMID:25741868|PMID:28492532 10048231 CV192634 NM_000501.4(ELN):c.1269C>T (p.Val423=) variant DOID:0070130 autosomal dominant cutis laxa 1 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal dominant 1 PMID:25741868|PMID:28492532 10048231 CV192634 NM_000501.4(ELN):c.1269C>T (p.Val423=) variant DOID:1929 supravalvular aortic stenosis IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Supravalvar aortic stenosis PMID:25741868|PMID:28492532 10048232 CV192636 NM_001457.4(FLNB):c.3090C>T (p.Tyr1030=) variant DOID:14764 Larsen syndrome IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: FLNB-Related Spectrum Disorders PMID:28492532 10048233 CV192640 NM_001854.4(COL11A1):c.1944+11T>C variant DOID:0080672 fibrochondrogenesis 1 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Fibrochondrogenesis 1 PMID:25741868|PMID:28492532 10048233 CV192640 NM_001854.4(COL11A1):c.1944+11T>C variant DOID:0080675 Stickler syndrome 2 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Stickler syndrome type 2 PMID:25741868|PMID:28492532 10048234 CV192643 NM_001378452.1(ITPR1):c.2226G>A (p.Ala742=) variant DOID:1441 autosomal dominant cerebellar ataxia IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia PMID:20437544|PMID:25741868|PMID:26467025|PMID:28492532 10048234 CV192643 NM_001378452.1(ITPR1):c.2226G>A (p.Ala742=) variant DOID:9002121 Spinocerebellar Ataxias IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Spinocerebellar Ataxia, Dominant PMID:20437544|PMID:25741868|PMID:26467025|PMID:28492532 10048235 CV192645 NM_001127671.2(LIFR):c.3288C>T (p.Asn1096=) variant DOID:9004577 Stuve-Wiedemann Syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Stuve-Wiedemann syndrome PMID:25741868|PMID:28492532 10048235 CV192645 NM_001127671.2(LIFR):c.3288C>T (p.Asn1096=) variant DOID:9008909 Stuve-Wiedemann Syndrome 1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Stüve-Wiedemann syndrome 1 PMID:25741868|PMID:28492532 10048236 CV192646 NM_002335.4(LRP5):c.4278T>C (p.Tyr1426=) variant DOID:0060849 osteoporosis-pseudoglioma syndrome IAGP D RGD:8554872 20240213 ClinVar ClinVar Annotator: match by term: Pseudoglioma with bone fragility PMID:25741868|PMID:28492532 10048236 CV192646 NM_002335.4(LRP5):c.4278T>C (p.Tyr1426=) variant DOID:0060977 polycystic liver disease 4 IAGP D RGD:8554872 20240213 ClinVar ClinVar Annotator: match by term: Polycystic liver disease 4 with or without kidney cysts PMID:25741868|PMID:28492532 10048236 CV192646 NM_002335.4(LRP5):c.4278T>C (p.Tyr1426=) variant DOID:0080037 Worth syndrome IAGP D RGD:8554872 20240213 ClinVar ClinVar Annotator: match by term: Osteosclerosis autosomal dominant Worth type PMID:25741868|PMID:28492532 10048236 CV192646 NM_002335.4(LRP5):c.4278T>C (p.Tyr1426=) variant DOID:0110937 autosomal dominant osteopetrosis 1 IAGP D RGD:8554872 20240213 ClinVar ClinVar Annotator: match by term: OSTEOPETROSIS, AUTOSOMAL DOMINANT, TYPE I PMID:25741868|PMID:28492532 10048236 CV192646 NM_002335.4(LRP5):c.4278T>C (p.Tyr1426=) variant DOID:0111411 exudative vitreoretinopathy 4 IAGP D RGD:8554872 20240213 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 4 PMID:25741868|PMID:28492532 10048236 CV192646 NM_002335.4(LRP5):c.4278T>C (p.Tyr1426=) variant DOID:0111412 exudative vitreoretinopathy 1 IAGP D RGD:8554872 20240213 ClinVar ClinVar Annotator: match by term: Familial exudative vitreoretinopathy, autosomal dominant PMID:25741868|PMID:28492532 10048236 CV192646 NM_002335.4(LRP5):c.4278T>C (p.Tyr1426=) variant DOID:11476 osteoporosis IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 1 PMID:25741868|PMID:28492532 10048238 CV192653 NM_004006.3(DMD):c.2381-3T>C variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:18583217|PMID:25636106|PMID:25741868|PMID:28492532 10048238 CV192653 NM_004006.3(DMD):c.2381-3T>C variant DOID:0110461 X-linked dilated cardiomyopathy IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 3B PMID:18583217|PMID:25636106|PMID:25741868|PMID:28492532 10048238 CV192653 NM_004006.3(DMD):c.2381-3T>C variant DOID:11723 Duchenne muscular dystrophy IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:18583217|PMID:25636106|PMID:25741868|PMID:28492532 10048238 CV192653 NM_004006.3(DMD):c.2381-3T>C variant DOID:9883 Becker muscular dystrophy IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Muscular dystrophy pseudohypertrophic progressive, Becker type PMID:18583217|PMID:25636106|PMID:25741868|PMID:28492532 10048240 CV192657 NM_005045.4(RELN):c.2466-7dup variant DOID:0060902 Norman-Roberts syndrome IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Norman-Roberts syndrome PMID:26467025|PMID:28492532 10048241 CV192662 NM_006363.6(SEC23B):c.*9_*10del variant DOID:1338 congenital dyserythropoietic anemia IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Congenital dyserythropoietic anemia PMID:25741868 10048243 CV192665 NM_001077365.2(POMT1):c.2004-1G>C variant DOID:0111237 congenital muscular dystrophy-dystroglycanopathy type A1 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 PMID:25741868 10048244 CV192666 NM_001077365.2(POMT1):c.2097C>A (p.Tyr699Ter) variant DOID:0110297 autosomal recessive limb-girdle muscular dystrophy type 2K IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K PMID:12369018|PMID:16575835|PMID:17559086|PMID:18752264|PMID:22323514|PMID:24304607|PMID:24491487|PMID:25741868|PMID:28492532 10048244 CV192666 NM_001077365.2(POMT1):c.2097C>A (p.Tyr699Ter) variant DOID:0111237 congenital muscular dystrophy-dystroglycanopathy type A1 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 PMID:12369018|PMID:16575835|PMID:17559086|PMID:18752264|PMID:22323514|PMID:24304607|PMID:24491487|PMID:25741868|PMID:28492532 10048247 CV192678 NM_017534.6(MYH2):c.2304+7T>G variant DOID:0080719 congenital myopathy 6 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia PMID:25741868|PMID:28492532 10048248 CV192679 NM_001134831.2(AHI1):c.2798A>G (p.Tyr933Cys) variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:25741868|PMID:28492532 10048248 CV192679 NM_001134831.2(AHI1):c.2798A>G (p.Tyr933Cys) variant DOID:0110998 Joubert syndrome 3 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Joubert syndrome 3 PMID:25741868|PMID:28492532 10048249 CV192683 NM_017950.4(CCDC40):c.3354C>A (p.Tyr1118Ter) variant DOID:0110622 primary ciliary dyskinesia 9 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Respiratory ciliopathies including non-CF bronchiectasis PMID:25741868|PMID:28492532 10048249 CV192683 NM_017950.4(CCDC40):c.3354C>A (p.Tyr1118Ter) variant DOID:9562 primary ciliary dyskinesia IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:25741868|PMID:28492532 10048250 CV192686 NM_018979.4(WNK1):c.5281-4G>A variant DOID:0070155 hereditary sensory and autonomic neuropathy type 2A IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A PMID:25741868|PMID:28492532 10048250 CV192686 NM_018979.4(WNK1):c.5281-4G>A variant DOID:630 genetic disease IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10048250 CV192686 NM_018979.4(WNK1):c.5281-4G>A variant DOID:9006034 Pseudohypoaldosteronism, Type IIC IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Pseudohypoaldosteronism type 2C PMID:25741868|PMID:28492532 10048251 CV192690 NM_024312.5(GNPTAB):c.3693+10A>T variant DOID:0080070 mucolipidosis II alpha/beta IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Mucolipidosis type II PMID:25741868|PMID:28492532 10048251 CV192690 NM_024312.5(GNPTAB):c.3693+10A>T variant DOID:0080071 mucolipidosis III alpha/beta IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy PMID:25741868|PMID:28492532 10048251 CV192690 NM_024312.5(GNPTAB):c.3693+10A>T variant DOID:3343 glycoproteinosis IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy PMID:25741868|PMID:28492532 10048252 CV192691 NM_024753.5(TTC21B):c.2569-10dup variant DOID:0050592 asphyxiating thoracic dystrophy IAGP D RGD:8554872 20181023 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:25741868|PMID:28492532 10048252 CV192691 NM_024753.5(TTC21B):c.2569-10dup variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:25741868|PMID:28492532 10048252 CV192691 NM_024753.5(TTC21B):c.2569-10dup variant DOID:65 connective tissue disease IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 10048253 CV192694 NM_024757.5(EHMT1):c.3011G>A (p.Ser1004Asn) variant DOID:0060352 Kleefstra syndrome 1 IAGP D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:25741868|PMID:28492532 10048253 CV192694 NM_024757.5(EHMT1):c.3011G>A (p.Ser1004Asn) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10048254 CV192700 NM_147127.5(EVC2):c.3507C>T (p.His1169=) variant DOID:0111571 Weyers acrofacial dysostosis IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Curry-Hall syndrome PMID:25741868|PMID:28492532 10048254 CV192700 NM_147127.5(EVC2):c.3507C>T (p.His1169=) variant DOID:12714 Ellis-Van Creveld syndrome IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:25741868|PMID:28492532 10048255 CV192701 NM_147127.5(EVC2):c.3557+10G>A variant DOID:12714 Ellis-Van Creveld syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld Syndrome PMID:25741868|PMID:28492532 10048256 CV192702 NM_147127.5(EVC2):c.3405_3411del (p.Gly1136fs) variant DOID:0050592 asphyxiating thoracic dystrophy IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:17024374|PMID:19810119|PMID:19876929|PMID:25741868|PMID:28492532|PMID:29068549 10048256 CV192702 NM_147127.5(EVC2):c.3405_3411del (p.Gly1136fs) variant DOID:0110085 asphyxiating thoracic dystrophy 1 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome PMID:17024374|PMID:19810119|PMID:19876929|PMID:25741868|PMID:28492532|PMID:29068549 10048256 CV192702 NM_147127.5(EVC2):c.3405_3411del (p.Gly1136fs) variant DOID:0111571 Weyers acrofacial dysostosis IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: WEYERS ACRODENTAL DYSOSTOSIS PMID:17024374|PMID:19810119|PMID:19876929|PMID:25741868|PMID:28492532|PMID:29068549 10048256 CV192702 NM_147127.5(EVC2):c.3405_3411del (p.Gly1136fs) variant DOID:12714 Ellis-Van Creveld syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:17024374|PMID:19810119|PMID:19876929|PMID:25741868|PMID:28492532|PMID:29068549 10048257 CV192704 NM_213599.3(ANO5):c.2387C>T (p.Ser796Leu) variant DOID:0070201 Miyoshi muscular dystrophy 3 IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Miyoshi muscular dystrophy 3 PMID:22980763|PMID:23041008|PMID:23606453|PMID:25741868|PMID:25891276|PMID:26467025|PMID:28492532 10048257 CV192704 NM_213599.3(ANO5):c.2387C>T (p.Ser796Leu) variant DOID:0110284 autosomal recessive limb-girdle muscular dystrophy type 2L IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2L PMID:22980763|PMID:23041008|PMID:23606453|PMID:25741868|PMID:25891276|PMID:26467025|PMID:28492532 10048257 CV192704 NM_213599.3(ANO5):c.2387C>T (p.Ser796Leu) variant DOID:0111533 gnathodiaphyseal dysplasia IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Gnathodiaphyseal dysplasia PMID:22980763|PMID:23041008|PMID:23606453|PMID:25741868|PMID:25891276|PMID:26467025|PMID:28492532 10048258 CV192705 NM_213599.3(ANO5):c.2236-10dup variant DOID:0070201 Miyoshi muscular dystrophy 3 IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Miyoshi muscular dystrophy 3 PMID:25741868|PMID:28492532 10048258 CV192705 NM_213599.3(ANO5):c.2236-10dup variant DOID:0110284 autosomal recessive limb-girdle muscular dystrophy type 2L IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2L PMID:25741868|PMID:28492532 10048258 CV192705 NM_213599.3(ANO5):c.2236-10dup variant DOID:0111533 gnathodiaphyseal dysplasia IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Gnathodiaphyseal dysplasia PMID:25741868|PMID:28492532 10048261 CV192720 NM_000276.4(OCRL):c.2299C>T (p.Gln767Ter) variant DOID:1056 oculocerebrorenal syndrome IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lowe syndrome PMID:19390221|PMID:21031565|PMID:22381590|PMID:28492532 10048262 CV192721 NM_000282.4(PCCA):c.1899+4_1899+7del variant DOID:14701 propionic acidemia IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:10101253|PMID:10780784|PMID:12385775|PMID:15235904|PMID:17576681|PMID:22033733|PMID:23348723|PMID:25741868|PMID:28492532|PMID:33473339|PMID:6790853|PMID:9385377|PMID:9536098 10048263 CV192723 NM_000368.5(TSC1):c.2626-4dup variant DOID:0080324 tuberous sclerosis 1 IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:25741868|PMID:28492532 10048263 CV192723 NM_000368.5(TSC1):c.2626-4dup variant DOID:13515 tuberous sclerosis IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis syndrome PMID:25741868|PMID:28492532 10048263 CV192723 NM_000368.5(TSC1):c.2626-4dup variant DOID:3319 lymphangioleiomyomatosis IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lymphangiomyomatosis PMID:25741868|PMID:28492532 10048263 CV192723 NM_000368.5(TSC1):c.2626-4dup variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532 10048264 CV192725 NM_000368.5(TSC1):c.2626-5_2626-4del variant DOID:0080324 tuberous sclerosis 1 IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:25741868|PMID:28492532 10048264 CV192725 NM_000368.5(TSC1):c.2626-5_2626-4del variant DOID:13515 tuberous sclerosis IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis syndrome PMID:25741868|PMID:28492532 10048264 CV192725 NM_000368.5(TSC1):c.2626-5_2626-4del variant DOID:3319 lymphangioleiomyomatosis IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Lymphangiomyomatosis PMID:25741868|PMID:28492532 10048264 CV192725 NM_000368.5(TSC1):c.2626-5_2626-4del variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532 10048265 CV192732 NM_001377.3(DYNC2H1):c.3015A>G (p.Leu1005=) variant DOID:0050592 asphyxiating thoracic dystrophy IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:25741868|PMID:28492532 10048268 CV192737 NM_001165963.4(SCN1A):c.4224G>A (p.Trp1408Ter) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:12566275|PMID:17347258|PMID:18930999|PMID:26096185|PMID:28492532 10048269 CV192741 NM_001376.5(DYNC1H1):c.4533G>A (p.Pro1511=) variant DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:25741868|PMID:26467025|PMID:28492532 10048269 CV192741 NM_001376.5(DYNC1H1):c.4533G>A (p.Pro1511=) variant DOID:630 genetic disease IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 10048272 CV192750 NM_002547.3(OPHN1):c.2056C>T (p.Pro686Ser) variant DOID:0080311 Billuart-type X-linked syndromic intellectual developmental disorder IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, BILLUART TYPE PMID:25741868|PMID:26467025|PMID:28492532 10048272 CV192750 NM_002547.3(OPHN1):c.2056C>T (p.Pro686Ser) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 10048274 CV192757 NM_001130987.2(DYSF):c.1985-2del variant DOID:9004518 Dysferlinopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dysferlinopathy PMID:16199547|PMID:17698709|PMID:20301480|PMID:28492532 10048276 CV192760 NM_004006.3(DMD):c.2745A>C (p.Thr915=) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:25741868|PMID:28492532 10048276 CV192760 NM_004006.3(DMD):c.2745A>C (p.Thr915=) variant DOID:11723 Duchenne muscular dystrophy IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:25741868|PMID:28492532 10048276 CV192760 NM_004006.3(DMD):c.2745A>C (p.Thr915=) variant DOID:9883 Becker muscular dystrophy IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, BECKER TYPE PMID:25741868|PMID:28492532 10048279 CV192764 NM_005562.3(LAMC2):c.3206C>T (p.Thr1069Met) variant DOID:3209 junctional epidermolysis bullosa IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Junctional epidermolysis bullosa PMID:25741868|PMID:28492532 10048282 CV192779 NM_020822.3(KCNT1):c.2430C>T (p.Ala810=) variant DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 IAGP D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:25741868|PMID:28492532 10048282 CV192779 NM_020822.3(KCNT1):c.2430C>T (p.Ala810=) variant DOID:0080439 developmental and epileptic encephalopathy 14 IAGP D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:25741868|PMID:28492532 10048282 CV192779 NM_020822.3(KCNT1):c.2430C>T (p.Ala810=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10048283 CV192780 NM_020822.3(KCNT1):c.2376C>T (p.Asp792=) variant DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 IAGP D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:25741868|PMID:26467025|PMID:28492532 10048283 CV192780 NM_020822.3(KCNT1):c.2376C>T (p.Asp792=) variant DOID:0080439 developmental and epileptic encephalopathy 14 IAGP D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:25741868|PMID:26467025|PMID:28492532 10048283 CV192780 NM_020822.3(KCNT1):c.2376C>T (p.Asp792=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 10048288 CV192802 NM_000070.3(CAPN3):c.2338G>C (p.Asp780His) variant DOID:0110275 autosomal recessive limb-girdle muscular dystrophy type 2A IAGP D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2A PMID:15733273|PMID:21386772|PMID:23666804|PMID:24846670|PMID:25079074|PMID:25741868|PMID:26467025|PMID:27011640|PMID:28492532 10048288 CV192802 NM_000070.3(CAPN3):c.2338G>C (p.Asp780His) variant DOID:9006843 Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 4 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, autosomal dominant 4 PMID:15733273|PMID:21386772|PMID:23666804|PMID:24846670|PMID:25079074|PMID:25741868|PMID:26467025|PMID:27011640|PMID:28492532 10048289 CV192804 NM_000275.3(OCA2):c.2328T>C (p.Ala776=) variant DOID:0070096 oculocutaneous albinism type II IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Tyrosinase-positive oculocutaneous albinism PMID:25741868|PMID:28492532 10048291 CV192810 NM_000392.5(ABCC2):c.2901C>A (p.Tyr967Ter) variant DOID:12308 Dubin-Johnson syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: ABCC2-related condition PMID:16549534|PMID:16952291|PMID:28492532|PMID:9185779 10048292 CV192811 NM_000393.5(COL5A2):c.1455+6G>T variant DOID:0080726 Ehlers-Danlos syndrome classic type 2 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: COL5A2-related condition PMID:28492532 10048292 CV192811 NM_000393.5(COL5A2):c.1455+6G>T variant DOID:14720 Ehlers-Danlos syndrome classic type 1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:28492532 10048293 CV192818 NM_000552.5(VWF):c.2880G>A (p.Arg960=) variant DOID:0060573 von Willebrand's disease 1 IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: von Willebrand disease type 1 PMID:25741868 10048293 CV192818 NM_000552.5(VWF):c.2880G>A (p.Arg960=) variant DOID:0060574 von Willebrand's disease 2 IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: von Willebrand disease type 2 PMID:25741868 10048293 CV192818 NM_000552.5(VWF):c.2880G>A (p.Arg960=) variant DOID:0111054 von Willebrand's disease 3 IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: von Willebrand disease type 3 PMID:25741868 10048293 CV192818 NM_000552.5(VWF):c.2880G>A (p.Arg960=) variant DOID:12531 von Willebrand's disease IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: von Willebrand disorder PMID:25741868 10048294 CV192822 NM_001377.3(DYNC2H1):c.3097-4A>G variant DOID:0050592 asphyxiating thoracic dystrophy IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:25741868|PMID:28492532|PMID:29068549 10048294 CV192822 NM_001377.3(DYNC2H1):c.3097-4A>G variant DOID:0110087 asphyxiating thoracic dystrophy 3 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 PMID:25741868|PMID:28492532|PMID:29068549 10048295 CV192823 NM_001083961.2(WDR62):c.2666T>C (p.Met889Thr) variant DOID:0070293 primary autosomal recessive microcephaly 2 with or without cortical malformations IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Primary autosomal recessive microcephaly 2 PMID:25741868|PMID:28492532 10048296 CV192824 NM_001127222.2(CACNA1A):c.3822+1G>A variant DOID:0050990 episodic ataxia type 2 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:10371528|PMID:16199547|PMID:19486177|PMID:25735478|PMID:25741868|PMID:27250579|PMID:28492532|PMID:31618753 10048296 CV192824 NM_001127222.2(CACNA1A):c.3822+1G>A variant DOID:0080454 developmental and epileptic encephalopathy 42 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 42 PMID:10371528|PMID:16199547|PMID:19486177|PMID:25735478|PMID:25741868|PMID:27250579|PMID:28492532|PMID:31618753 10048296 CV192824 NM_001127222.2(CACNA1A):c.3822+1G>A variant DOID:630 genetic disease IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10371528|PMID:16199547|PMID:19486177|PMID:25735478|PMID:25741868|PMID:27250579|PMID:28492532|PMID:31618753 10048297 CV192826 NM_001142800.2(EYS):c.3443+1G>T variant DOID:0110384 retinitis pigmentosa 25 IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 25 PMID:16199547|PMID:18836446|PMID:20237254|PMID:20333770|PMID:25097241|PMID:25741868|PMID:26667666|PMID:28492532|PMID:29550188|PMID:34906470|PMID:36196406 10048297 CV192826 NM_001142800.2(EYS):c.3443+1G>T variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:16199547|PMID:18836446|PMID:20237254|PMID:20333770|PMID:25097241|PMID:25741868|PMID:26667666|PMID:28492532|PMID:29550188|PMID:34906470|PMID:36196406 10048297 CV192826 NM_001142800.2(EYS):c.3443+1G>T variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16199547|PMID:18836446|PMID:20237254|PMID:20333770|PMID:25097241|PMID:25741868|PMID:26667666|PMID:28492532|PMID:29550188|PMID:34906470|PMID:36196406 10048298 CV192829 NM_001369.3(DNAH5):c.3363T>G (p.Ser1121=) variant DOID:9562 primary ciliary dyskinesia IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 10048299 CV192833 NM_002335.4(LRP5):c.4574C>T (p.Ala1525Val) variant DOID:0111411 exudative vitreoretinopathy 4 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 4 PMID:25741868|PMID:28492532 10048299 CV192833 NM_002335.4(LRP5):c.4574C>T (p.Ala1525Val) variant DOID:12347 osteogenesis imperfecta IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:25741868|PMID:28492532 10048302 CV192839 NM_004006.3(DMD):c.2804-2A>T variant DOID:11723 Duchenne muscular dystrophy IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:15351422|PMID:16199547|PMID:16770791|PMID:17041906|PMID:20485447|PMID:25007885|PMID:27593222|PMID:28492532 10048305 CV192844 NM_001374385.1(ATP8B1):c.2442G>T (p.Lys814Asn) variant DOID:0070226 progressive familial intrahepatic cholestasis 1 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Byler disease PMID:24260417|PMID:25741868|PMID:28492532 10048306 CV192847 NM_014014.5(SNRNP200):c.3005A>G (p.Asn1002Ser) variant DOID:0110366 retinitis pigmentosa 33 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 33 PMID:25741868|PMID:28492532 10048306 CV192847 NM_014014.5(SNRNP200):c.3005A>G (p.Asn1002Ser) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532 10048306 CV192847 NM_014014.5(SNRNP200):c.3005A>G (p.Asn1002Ser) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532 10048307 CV192855 NM_018668.5(VPS33B):c.1701C>T (p.Leu567=) variant DOID:0111353 arthrogryposis, renal dysfunction, and cholestasis 1 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1 PMID:25741868|PMID:28492532 10048308 CV192858 NM_025074.7(FRAS1):c.2722+1G>A variant DOID:0111405 Fraser syndrome 1 IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Fraser syndrome 1 PMID:12766769|PMID:16199547|PMID:18671281|PMID:24551978|PMID:25741868|PMID:28492532 10048309 CV192859 NM_001365088.1(SLC12A6):c.3042+8A>G variant DOID:0090003 agenesis of the corpus callosum with peripheral neuropathy IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Agenesis of the corpus callosum with peripheral neuropathy PMID:25741868|PMID:28492532 10048311 CV192890 NM_000392.5(ABCC2):c.3107T>C (p.Ile1036Thr) variant DOID:12308 Dubin-Johnson syndrome IAGP D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Dubin-Johnson syndrome PMID:25741868|PMID:28492532 10048312 CV192894 NM_001377.3(DYNC2H1):c.3353del (p.Ser1118fs) variant DOID:0050592 asphyxiating thoracic dystrophy IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:23339108|PMID:28492532|PMID:29068549|PMID:32753734|PMID:33755199 10048313 CV192903 NM_001844.5(COL2A1):c.1510G>A (p.Gly504Ser) variant DOID:0080056 achondrogenesis type II IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Achondrogenesis type II PMID:15895462|PMID:17078022|PMID:17509551|PMID:19344236|PMID:23079993|PMID:25741868|PMID:25900302|PMID:28492532|PMID:7550321|PMID:7695699|PMID:8218237|PMID:9016532 10048313 CV192903 NM_001844.5(COL2A1):c.1510G>A (p.Gly504Ser) variant DOID:0112195 spondyloperipheral dysplasia IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Spondyloperipheral dysplasia-short ulna syndrome PMID:15895462|PMID:17078022|PMID:17509551|PMID:19344236|PMID:23079993|PMID:25741868|PMID:25900302|PMID:28492532|PMID:7550321|PMID:7695699|PMID:8218237|PMID:9016532 10048313 CV192903 NM_001844.5(COL2A1):c.1510G>A (p.Gly504Ser) variant DOID:630 genetic disease IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15895462|PMID:17078022|PMID:17509551|PMID:19344236|PMID:23079993|PMID:25741868|PMID:25900302|PMID:28492532|PMID:7550321|PMID:7695699|PMID:8218237|PMID:9016532 10048315 CV192905 NM_001844.5(COL2A1):c.1433C>T (p.Pro478Leu) variant DOID:65 connective tissue disease IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 10048317 CV192911 NM_003742.4(ABCB11):c.2943C>T (p.Tyr981=) variant DOID:0070222 progressive familial intrahepatic cholestasis 2 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2 PMID:25741868|PMID:28492532 10048318 CV192913 NM_004006.3(DMD):c.2971G>C (p.Glu991Gln) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:14695533|PMID:19937601|PMID:25163546|PMID:25741868|PMID:26467025|PMID:28492532 10048318 CV192913 NM_004006.3(DMD):c.2971G>C (p.Glu991Gln) variant DOID:11723 Duchenne muscular dystrophy IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:14695533|PMID:19937601|PMID:25163546|PMID:25741868|PMID:26467025|PMID:28492532 10048318 CV192913 NM_004006.3(DMD):c.2971G>C (p.Glu991Gln) variant DOID:9883 Becker muscular dystrophy IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, BECKER TYPE PMID:14695533|PMID:19937601|PMID:25163546|PMID:25741868|PMID:26467025|PMID:28492532 10048319 CV192915 NM_004415.4(DSP):c.4009del (p.Glu1337fs) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:20716751|PMID:24503780|PMID:25227139|PMID:25741868|PMID:28492532 10048319 CV192915 NM_004415.4(DSP):c.4009del (p.Glu1337fs) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Carvajal syndrome PMID:20716751|PMID:24503780|PMID:25227139|PMID:25741868|PMID:28492532 10048319 CV192915 NM_004415.4(DSP):c.4009del (p.Glu1337fs) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 8 PMID:20716751|PMID:24503780|PMID:25227139|PMID:25741868|PMID:28492532 10048321 CV192927 NM_014846.4(WASHC5):c.2771-7T>C variant DOID:0110823 hereditary spastic paraplegia 8 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 PMID:25741868|PMID:28492532 10048321 CV192927 NM_014846.4(WASHC5):c.2771-7T>C variant DOID:2476 hereditary spastic paraplegia IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:25741868|PMID:28492532 10048322 CV192931 NM_001134831.2(AHI1):c.3164C>T (p.Thr1055Met) variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:25741868|PMID:28492532 10048322 CV192931 NM_001134831.2(AHI1):c.3164C>T (p.Thr1055Met) variant DOID:0110998 Joubert syndrome 3 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Joubert syndrome 3 PMID:25741868|PMID:28492532 10048322 CV192931 NM_001134831.2(AHI1):c.3164C>T (p.Thr1055Met) variant DOID:1059 intellectual disability IAGP D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 10048323 CV192938 NM_024753.5(TTC21B):c.3004C>G (p.Leu1002Val) variant DOID:0050592 asphyxiating thoracic dystrophy IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:24033266|PMID:25741868|PMID:28492532 10048323 CV192938 NM_024753.5(TTC21B):c.3004C>G (p.Leu1002Val) variant DOID:0110088 asphyxiating thoracic dystrophy 4 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 4 PMID:24033266|PMID:25741868|PMID:28492532 10048323 CV192938 NM_024753.5(TTC21B):c.3004C>G (p.Leu1002Val) variant DOID:0110980 Joubert syndrome 1 IAGP D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Joubert syndrome 1 PMID:24033266|PMID:25741868|PMID:28492532 10048323 CV192938 NM_024753.5(TTC21B):c.3004C>G (p.Leu1002Val) variant DOID:0111119 nephronophthisis 12 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Nephronophthisis 12 PMID:24033266|PMID:25741868|PMID:28492532 10048323 CV192938 NM_024753.5(TTC21B):c.3004C>G (p.Leu1002Val) variant DOID:65 connective tissue disease IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:24033266|PMID:25741868|PMID:28492532 10048323 CV192938 NM_024753.5(TTC21B):c.3004C>G (p.Leu1002Val) variant DOID:784 chronic kidney disease IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:24033266|PMID:25741868|PMID:28492532 10048324 CV192946 NM_172364.5(CACNA2D4):c.2189C>T (p.Ala730Val) variant DOID:0081023 retinal cone dystrophy 4 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Retinal cone dystrophy 4 PMID:25741868|PMID:28492532 10048325 CV192947 NM_172364.5(CACNA2D4):c.2239A>G (p.Met747Val) variant DOID:0081023 retinal cone dystrophy 4 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Retinal cone dystrophy 4 PMID:28492532 10048326 CV192950 NM_207361.6(FREM2):c.8902G>A (p.Val2968Ile) variant DOID:0090001 Fraser syndrome IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Cryptophthalmos with other malformations PMID:25741868|PMID:26275891|PMID:28492532 10048326 CV192950 NM_207361.6(FREM2):c.8902G>A (p.Val2968Ile) variant DOID:0111405 Fraser syndrome 1 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Fraser syndrome 1 PMID:25741868|PMID:26275891|PMID:28492532 10048326 CV192950 NM_207361.6(FREM2):c.8902G>A (p.Val2968Ile) variant DOID:0111407 Fraser syndrome 2 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: FRASER SYNDROME 2 PMID:25741868|PMID:26275891|PMID:28492532 10048326 CV192950 NM_207361.6(FREM2):c.8902G>A (p.Val2968Ile) variant DOID:0111717 isolated cryptophthalmia IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Isolated cryptophthalmia PMID:25741868|PMID:26275891|PMID:28492532 10048328 CV192971 NM_001376.5(DYNC1H1):c.5001C>T (p.Asn1667=) variant DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2O PMID:25741868|PMID:26467025|PMID:28492532 10048328 CV192971 NM_001376.5(DYNC1H1):c.5001C>T (p.Asn1667=) variant DOID:10595 Charcot-Marie-Tooth disease IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:25741868|PMID:26467025|PMID:28492532 10048328 CV192971 NM_001376.5(DYNC1H1):c.5001C>T (p.Asn1667=) variant DOID:1441 autosomal dominant cerebellar ataxia IAGP D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia PMID:25741868|PMID:26467025|PMID:28492532 10048328 CV192971 NM_001376.5(DYNC1H1):c.5001C>T (p.Asn1667=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 10048328 CV192971 NM_001376.5(DYNC1H1):c.5001C>T (p.Asn1667=) variant DOID:9002121 Spinocerebellar Ataxias IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Spinocerebellar Ataxia, Dominant PMID:25741868|PMID:26467025|PMID:28492532 10048329 CV192974 NM_001851.6(COL9A1):c.1656T>C (p.Pro552=) variant DOID:65 connective tissue disease IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 10048330 CV192980 NM_004380.3(CREBBP):c.4133+4A>G variant DOID:1933 Rubinstein-Taybi syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:28492532 10048330 CV192980 NM_004380.3(CREBBP):c.4133+4A>G variant DOID:630 genetic disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10048332 CV192986 NM_005529.7(HSPG2):c.3056C>T (p.Pro1019Leu) variant DOID:0090005 Schwartz-Jampel syndrome 1 IAGP D RGD:8554872 20211109 ClinVar ClinVar Annotator: match by term: Schwartz-Jampel syndrome PMID:16927315|PMID:21228398|PMID:25741868|PMID:26467025|PMID:28492532 10048332 CV192986 NM_005529.7(HSPG2):c.3056C>T (p.Pro1019Leu) variant DOID:65 connective tissue disease IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:16927315|PMID:21228398|PMID:25741868|PMID:26467025|PMID:28492532 10048334 CV192998 NM_182961.4(SYNE1):c.2882G>A (p.Arg961Gln) variant DOID:0070249 autosomal dominant Emery-Dreifuss muscular dystrophy 4 IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant PMID:25741868|PMID:26467025|PMID:28492532 10048334 CV192998 NM_182961.4(SYNE1):c.2882G>A (p.Arg961Gln) variant DOID:0111618 autosomal recessive spinocerebellar ataxia 8 IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 PMID:25741868|PMID:26467025|PMID:28492532 10048335 CV193008 NM_000090.4(COL3A1):c.1815+5G>A variant DOID:13359 Ehlers-Danlos syndrome IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:22001912|PMID:25741868|PMID:25776230|PMID:26332594|PMID:28492532 10048335 CV193008 NM_000090.4(COL3A1):c.1815+5G>A variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:22001912|PMID:25741868|PMID:25776230|PMID:26332594|PMID:28492532 10048335 CV193008 NM_000090.4(COL3A1):c.1815+5G>A variant DOID:14756 vascular type Ehlers-Danlos syndrome IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Ehlers Danlos syndrome, Sack-Barabas type PMID:22001912|PMID:25741868|PMID:25776230|PMID:26332594|PMID:28492532 10048335 CV193008 NM_000090.4(COL3A1):c.1815+5G>A variant DOID:65 connective tissue disease IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:22001912|PMID:25741868|PMID:25776230|PMID:26332594|PMID:28492532 10048335 CV193008 NM_000090.4(COL3A1):c.1815+5G>A variant DOID:9001287 Ehlers-Danlos Syndrome Type 4 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos Syndrome Type IV PMID:22001912|PMID:25741868|PMID:25776230|PMID:26332594|PMID:28492532 10048337 CV193012 NM_000392.5(ABCC2):c.3542G>T (p.Arg1181Leu) variant DOID:12308 Dubin-Johnson syndrome IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Dubin-Johnson syndrome PMID:25741868|PMID:28492532 10048338 CV193018 NM_201384.3(PLEC):c.2978G>A (p.Arg993Gln) variant DOID:0060736 epidermolysis bullosa simplex Ogna type IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Ogna type PMID:28492532 10048338 CV193018 NM_201384.3(PLEC):c.2978G>A (p.Arg993Gln) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy PMID:28492532 10048338 CV193018 NM_201384.3(PLEC):c.2978G>A (p.Arg993Gln) variant DOID:0110285 autosomal recessive limb-girdle muscular dystrophy type 2Q IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2Q PMID:28492532 10048338 CV193018 NM_201384.3(PLEC):c.2978G>A (p.Arg993Gln) variant DOID:630 genetic disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10048338 CV193018 NM_201384.3(PLEC):c.2978G>A (p.Arg993Gln) variant DOID:9001254 Epidermolysis Bullosa Simplex 5D with Nail Dystrophy IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy PMID:28492532 10048338 CV193018 NM_201384.3(PLEC):c.2978G>A (p.Arg993Gln) variant DOID:9003881 Epidermolysis Bullosa Simplex 5C with Pyloric Atresia IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with pyloric atresia PMID:28492532 10048341 CV193028 NM_001457.4(FLNB):c.4390+8T>A variant DOID:0080096 myofibrillar myopathy 5 IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: FLNB-Related Disorders PMID:25741868|PMID:28492532 10048341 CV193028 NM_001457.4(FLNB):c.4390+8T>A variant DOID:14764 Larsen syndrome IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: FLNB-Related Spectrum Disorders PMID:25741868|PMID:28492532 10048342 CV193033 NM_001853.4(COL9A3):c.1288-5T>C variant DOID:0070304 multiple epiphyseal dysplasia 3 IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, 3 PMID:25741868|PMID:28492532 10048343 CV193034 NM_001853.4(COL9A3):c.1304C>A (p.Ala435Glu) variant DOID:0070304 multiple epiphyseal dysplasia 3 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, 3 PMID:25741868|PMID:28492532 10048343 CV193034 NM_001853.4(COL9A3):c.1304C>A (p.Ala435Glu) variant DOID:65 connective tissue disease IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 10048346 CV193043 NM_001164508.2(NEB):c.2343G>A (p.Lys781=) variant DOID:0110928 nemaline myopathy 2 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 2 PMID:25741868|PMID:28492532 10048347 CV193044 NM_005529.7(HSPG2):c.3269G>A (p.Arg1090Gln) variant DOID:0090005 Schwartz-Jampel syndrome 1 IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Schwartz Jampel syndrome type 1 PMID:26467025|PMID:28492532 10048347 CV193044 NM_005529.7(HSPG2):c.3269G>A (p.Arg1090Gln) variant DOID:9005084 Kniest Like Dysplasia Lethal IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Lethal Kniest-like syndrome PMID:26467025|PMID:28492532 10048348 CV193046 NM_006208.3(ENPP1):c.2657G>C (p.Arg886Thr) variant DOID:0050644 arterial calcification of infancy IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Idiopathic infantile arterial calcification PMID:28492532|PMID:34609116 10048348 CV193046 NM_006208.3(ENPP1):c.2657G>C (p.Arg886Thr) variant DOID:0111099 maturity-onset diabetes of the young type 1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532|PMID:34609116 10048348 CV193046 NM_006208.3(ENPP1):c.2657G>C (p.Arg886Thr) variant DOID:9001198 Hypophosphatemic Rickets, Autosomal Recessive, 2 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Hypophosphatemic rickets, autosomal recessive, 2 PMID:28492532|PMID:34609116 10048348 CV193046 NM_006208.3(ENPP1):c.2657G>C (p.Arg886Thr) variant DOID:9006958 Generalized Arterial Calcification of Infancy, 1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1 PMID:28492532|PMID:34609116 10048348 CV193046 NM_006208.3(ENPP1):c.2657G>C (p.Arg886Thr) variant DOID:9352 type 2 diabetes mellitus IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:28492532|PMID:34609116 10048351 CV193050 NM_006662.3(SRCAP):c.4218C>A (p.Ser1406=) variant DOID:0111358 Floating-Harbor syndrome IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Floating-Harbor syndrome PMID:25741868|PMID:28492532 10048351 CV193050 NM_006662.3(SRCAP):c.4218C>A (p.Ser1406=) variant DOID:9004230 DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES PMID:25741868|PMID:28492532 10048352 CV193055 NM_014780.5(CUL7):c.4717C>T (p.Arg1573Ter) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16142236|PMID:17675530|PMID:19225462|PMID:28492532 10048352 CV193055 NM_014780.5(CUL7):c.4717C>T (p.Arg1573Ter) variant DOID:9005349 Three M Syndrome 1 IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: 3M syndrome 1 PMID:16142236|PMID:17675530|PMID:19225462|PMID:28492532 10048353 CV193056 NM_014780.5(CUL7):c.4762C>A (p.Leu1588Ile) variant DOID:9005349 Three M Syndrome 1 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Three M syndrome 1 PMID:25741868|PMID:28492532 10048354 CV193057 NM_130837.3(OPA1):c.2734C>T (p.Arg912Ter) variant DOID:0080336 mitochondrial DNA depletion syndrome 14 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type) PMID:11017079|PMID:19319978|PMID:25741868|PMID:26385429|PMID:26467025|PMID:28492532|PMID:28926202|PMID:34242285 10048354 CV193057 NM_130837.3(OPA1):c.2734C>T (p.Arg912Ter) variant DOID:0111340 dominant optic atrophy plus syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy PMID:11017079|PMID:19319978|PMID:25741868|PMID:26385429|PMID:26467025|PMID:28492532|PMID:28926202|PMID:34242285 10048354 CV193057 NM_130837.3(OPA1):c.2734C>T (p.Arg912Ter) variant DOID:0111441 optic atrophy 1 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Optic Atrophy Type 1 PMID:11017079|PMID:19319978|PMID:25741868|PMID:26385429|PMID:26467025|PMID:28492532|PMID:28926202|PMID:34242285 10048354 CV193057 NM_130837.3(OPA1):c.2734C>T (p.Arg912Ter) variant DOID:0111580 Behr syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss PMID:11017079|PMID:19319978|PMID:25741868|PMID:26385429|PMID:26467025|PMID:28492532|PMID:28926202|PMID:34242285 10048354 CV193057 NM_130837.3(OPA1):c.2734C>T (p.Arg912Ter) variant DOID:9001062 Normal Tension Glaucoma IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: GLAUCOMA, NORMAL PRESSURE, SUSCEPTIBILITY TO PMID:11017079|PMID:19319978|PMID:25741868|PMID:26385429|PMID:26467025|PMID:28492532|PMID:28926202|PMID:34242285 10048355 CV193066 NM_001384732.1(CPLANE1):c.4190-10_4190-9del variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:25741868|PMID:28492532 10048356 CV193068 NM_024408.4(NOTCH2):c.4305G>A (p.Arg1435=) variant DOID:2736 Hajdu-Cheney syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Hajdu-Cheney syndrome PMID:25741868|PMID:28492532 10048358 CV193077 NM_206933.4(USH2A):c.5167+1G>T variant DOID:0110838 Usher syndrome type 2A IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2A PMID:10729113|PMID:10909849|PMID:16199547|PMID:20507924|PMID:25649381|PMID:25741868|PMID:28492532 10048359 CV193081 NM_001267550.2(TTN):c.60681dup (p.Lys20228Ter) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Salih Myopathy PMID:23975875|PMID:25589632|PMID:25741868|PMID:28492532|PMID:33874732 10048359 CV193081 NM_001267550.2(TTN):c.60681dup (p.Lys20228Ter) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:23975875|PMID:25589632|PMID:25741868|PMID:28492532|PMID:33874732 10048359 CV193081 NM_001267550.2(TTN):c.60681dup (p.Lys20228Ter) variant DOID:0110315 hypertrophic cardiomyopathy 9 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 9 PMID:23975875|PMID:25589632|PMID:25741868|PMID:28492532|PMID:33874732 10048359 CV193081 NM_001267550.2(TTN):c.60681dup (p.Lys20228Ter) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23975875|PMID:25589632|PMID:25741868|PMID:28492532|PMID:33874732 10048359 CV193081 NM_001267550.2(TTN):c.60681dup (p.Lys20228Ter) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Udd Distal Myopathy PMID:23975875|PMID:25589632|PMID:25741868|PMID:28492532|PMID:33874732 10048359 CV193081 NM_001267550.2(TTN):c.60681dup (p.Lys20228Ter) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant PMID:23975875|PMID:25589632|PMID:25741868|PMID:28492532|PMID:33874732 10048362 CV193097 NM_001142800.2(EYS):c.4350_4356del (p.Ile1451fs) variant DOID:0110384 retinitis pigmentosa 25 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 25 PMID:18836446|PMID:20333770|PMID:20537394|PMID:21217109|PMID:24265693|PMID:25491159|PMID:25741868|PMID:28492532|PMID:30718709|PMID:31074760|PMID:31964843|PMID:32037395|PMID:32531858|PMID:34906470|PMID:36819107 10048362 CV193097 NM_001142800.2(EYS):c.4350_4356del (p.Ile1451fs) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:18836446|PMID:20333770|PMID:20537394|PMID:21217109|PMID:24265693|PMID:25491159|PMID:25741868|PMID:28492532|PMID:30718709|PMID:31074760|PMID:31964843|PMID:32037395|PMID:32531858|PMID:34906470|PMID:36819107 10048362 CV193097 NM_001142800.2(EYS):c.4350_4356del (p.Ile1451fs) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:18836446|PMID:20333770|PMID:20537394|PMID:21217109|PMID:24265693|PMID:25491159|PMID:25741868|PMID:28492532|PMID:30718709|PMID:31074760|PMID:31964843|PMID:32037395|PMID:32531858|PMID:34906470|PMID:36819107 10048363 CV193098 NM_001142800.2(EYS):c.5510G>C (p.Trp1837Ser) variant DOID:0110384 retinitis pigmentosa 25 IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 25 PMID:20333770|PMID:20537394|PMID:24265693|PMID:25097241|PMID:26806561|PMID:28041643|PMID:28492532 10048363 CV193098 NM_001142800.2(EYS):c.5510G>C (p.Trp1837Ser) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:20333770|PMID:20537394|PMID:24265693|PMID:25097241|PMID:26806561|PMID:28041643|PMID:28492532 10048365 CV193109 NM_001110556.2(FLNA):c.4420G>A (p.Asp1474Asn) variant DOID:0050454 periventricular nodular heterotopia IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:25741868|PMID:28492532|PMID:36734119 10048365 CV193109 NM_001110556.2(FLNA):c.4420G>A (p.Asp1474Asn) variant DOID:0111784 otopalatodigital syndrome type 2 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Faciopalatoosseous syndrome PMID:25741868|PMID:28492532|PMID:36734119 10048365 CV193109 NM_001110556.2(FLNA):c.4420G>A (p.Asp1474Asn) variant DOID:0111785 frontometaphyseal dysplasia IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Frontometaphyseal dysplasia PMID:25741868|PMID:28492532|PMID:36734119 10048365 CV193109 NM_001110556.2(FLNA):c.4420G>A (p.Asp1474Asn) variant DOID:0111788 Melnick-Needles syndrome IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles PMID:25741868|PMID:28492532|PMID:36734119 10048365 CV193109 NM_001110556.2(FLNA):c.4420G>A (p.Asp1474Asn) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532|PMID:36734119 10048365 CV193109 NM_001110556.2(FLNA):c.4420G>A (p.Asp1474Asn) variant DOID:9005082 Periventricular Nodular Heterotopia 4 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: PERIVENTRICULAR NODULAR HETEROTOPIA 4 PMID:25741868|PMID:28492532|PMID:36734119 10048366 CV193111 NM_001845.6(COL4A1):c.1815T>C (p.Pro605=) variant DOID:0060263 porencephaly IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: PORENCEPHALY, TYPE 1, AUTOSOMAL DOMINANT PMID:25741868|PMID:26467025|PMID:28492532 10048366 CV193111 NM_001845.6(COL4A1):c.1815T>C (p.Pro605=) variant DOID:0090125 brain small vessel disease 1 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Brain small vessel disease with hemorrhage PMID:25741868|PMID:26467025|PMID:28492532 10048366 CV193111 NM_001845.6(COL4A1):c.1815T>C (p.Pro605=) variant DOID:9003529 Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps PMID:25741868|PMID:26467025|PMID:28492532 10048367 CV193116 NM_001849.4(COL6A2):c.2332G>A (p.Asp778Asn) variant DOID:0050663 Bethlem myopathy IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Myopathy, benign congenital, with contractures PMID:28492532 10048367 CV193116 NM_001849.4(COL6A2):c.2332G>A (p.Asp778Asn) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:28492532 10048367 CV193116 NM_001849.4(COL6A2):c.2332G>A (p.Asp778Asn) variant DOID:9007626 Myosclerosis, Autosomal Recessive IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Myosclerosis PMID:28492532 10048368 CV193118 NM_001851.6(COL9A1):c.1728T>G (p.Pro576=) variant DOID:0070301 multiple epiphyseal dysplasia 6 IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Multiple epiphyseal dysplasia 6 PMID:25741868|PMID:28492532 10048369 CV193119 NM_001252024.2(TRPM1):c.3571del (p.Glu1191fs) variant DOID:0110867 congenital stationary night blindness 1C IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness, type 1C PMID:25741868 10048370 CV193121 NM_003482.4(KMT2D):c.5677C>T (p.Gln1893Ter) variant DOID:0060473 Kabuki syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kabuki syndrome PMID:22126750|PMID:28492532|PMID:33084842 10048371 CV193123 NM_003664.5(AP3B1):c.2995G>A (p.Val999Met) variant DOID:0060540 Hermansky-Pudlak syndrome 2 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 PMID:25741868|PMID:28492532 10048371 CV193123 NM_003664.5(AP3B1):c.2995G>A (p.Val999Met) variant DOID:2935 Chediak-Higashi syndrome IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:25741868|PMID:28492532 10048371 CV193123 NM_003664.5(AP3B1):c.2995G>A (p.Val999Met) variant DOID:3753 Hermansky-Pudlak syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome PMID:25741868|PMID:28492532 10048372 CV193126 NM_004006.3(DMD):c.3603+3dup variant DOID:11723 Duchenne muscular dystrophy IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:28492532 10048374 CV193128 NM_004006.3(DMD):c.3535G>T (p.Glu1179Ter) variant DOID:11723 Duchenne muscular dystrophy IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:16770791|PMID:25007885|PMID:28492532 10048375 CV193132 NM_004380.3(CREBBP):c.4350C>T (p.Tyr1450=) variant DOID:1933 Rubinstein-Taybi syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Broad thumb-hallux syndrome PMID:25741868|PMID:28492532 10048375 CV193132 NM_004380.3(CREBBP):c.4350C>T (p.Tyr1450=) variant DOID:630 genetic disease IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10048375 CV193132 NM_004380.3(CREBBP):c.4350C>T (p.Tyr1450=) variant DOID:9008974 Menke-Hennekam Syndrome 1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Menke-Hennekam syndrome 1 PMID:25741868|PMID:28492532 10048376 CV193134 NM_005529.7(HSPG2):c.3336C>T (p.Pro1112=) variant DOID:0090005 Schwartz-Jampel syndrome 1 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Schwartz-Jampel syndrome PMID:26467025|PMID:28492532 10048376 CV193134 NM_005529.7(HSPG2):c.3336C>T (p.Pro1112=) variant DOID:9005084 Kniest Like Dysplasia Lethal IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Lethal Kniest-like syndrome PMID:26467025|PMID:28492532 10048377 CV193136 NM_015046.7(SETX):c.7834A>G (p.Ser2612Gly) variant DOID:0050755 spinocerebellar ataxia with axonal neuropathy 2 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 PMID:25741868|PMID:26467025|PMID:28492532 10048377 CV193136 NM_015046.7(SETX):c.7834A>G (p.Ser2612Gly) variant DOID:0060196 amyotrophic lateral sclerosis type 4 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 4 PMID:25741868|PMID:26467025|PMID:28492532 10048378 CV193140 NM_018979.4(WNK1):c.6624C>A (p.Ser2208Arg) variant DOID:0070155 hereditary sensory and autonomic neuropathy type 2A IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A PMID:25741868|PMID:28492532 10048378 CV193140 NM_018979.4(WNK1):c.6624C>A (p.Ser2208Arg) variant DOID:630 genetic disease IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10048379 CV193143 NM_020822.3(KCNT1):c.2994G>A (p.Leu998=) variant DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 IAGP D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:25741868|PMID:28492532 10048379 CV193143 NM_020822.3(KCNT1):c.2994G>A (p.Leu998=) variant DOID:0080439 developmental and epileptic encephalopathy 14 IAGP D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:25741868|PMID:28492532 10048379 CV193143 NM_020822.3(KCNT1):c.2994G>A (p.Leu998=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10048381 CV193146 NM_001291415.2(KDM6A):c.3893-6del variant DOID:9007875 Kabuki Syndrome 2 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 2 PMID:28492532 10048382 CV193168 NM_000088.4(COL1A1):c.1873G>A (p.Ala625Thr) variant DOID:0080727 Ehlers-Danlos syndrome arthrochalasia type 1 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasia type, 1 PMID:25741868|PMID:26467025|PMID:28492532 10048382 CV193168 NM_000088.4(COL1A1):c.1873G>A (p.Ala625Thr) variant DOID:0080730 Ehlers-Danlos syndrome cardiac valvular type IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasis type PMID:25741868|PMID:26467025|PMID:28492532 10048382 CV193168 NM_000088.4(COL1A1):c.1873G>A (p.Ala625Thr) variant DOID:0110334 osteogenesis imperfecta type 1 IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type I PMID:25741868|PMID:26467025|PMID:28492532 10048382 CV193168 NM_000088.4(COL1A1):c.1873G>A (p.Ala625Thr) variant DOID:12347 osteogenesis imperfecta IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:25741868|PMID:26467025|PMID:28492532 10048382 CV193168 NM_000088.4(COL1A1):c.1873G>A (p.Ala625Thr) variant DOID:13359 Ehlers-Danlos syndrome IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:25741868|PMID:26467025|PMID:28492532 10048382 CV193168 NM_000088.4(COL1A1):c.1873G>A (p.Ala625Thr) variant DOID:4257 Caffey disease IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Infantile cortical hyperostosis PMID:25741868|PMID:26467025|PMID:28492532 10048383 CV193170 NM_001377.3(DYNC2H1):c.4238A>G (p.Lys1413Arg) variant DOID:0050592 asphyxiating thoracic dystrophy IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:24033266|PMID:25741868|PMID:28492532 10048383 CV193170 NM_001377.3(DYNC2H1):c.4238A>G (p.Lys1413Arg) variant DOID:0110087 asphyxiating thoracic dystrophy 3 IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 3 with or without polydactyly PMID:24033266|PMID:25741868|PMID:28492532 10048384 CV193172 NM_001083961.2(WDR62):c.3271_3273del (p.His1091del) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10048389 CV193186 NM_004380.3(CREBBP):c.4494A>G (p.Arg1498=) variant DOID:1933 Rubinstein-Taybi syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Broad thumb-hallux syndrome PMID:25741868|PMID:28492532 10048389 CV193186 NM_004380.3(CREBBP):c.4494A>G (p.Arg1498=) variant DOID:630 genetic disease IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10048389 CV193186 NM_004380.3(CREBBP):c.4494A>G (p.Arg1498=) variant DOID:9008974 Menke-Hennekam Syndrome 1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Menke-Hennekam syndrome 1 PMID:25741868|PMID:28492532 10048390 CV193188 NM_005045.4(RELN):c.3712A>C (p.Asn1238His) variant DOID:0060751 familial temporal lobe epilepsy 7 IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Familial temporal lobe epilepsy 7 PMID:25741868|PMID:28492532 10048390 CV193188 NM_005045.4(RELN):c.3712A>C (p.Asn1238His) variant DOID:0060902 Norman-Roberts syndrome IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: RELN-related condition PMID:25741868|PMID:28492532 10048392 CV193197 NM_001134831.2(AHI1):c.3579T>C (p.Thr1193=) variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:25741868|PMID:28492532 10048392 CV193197 NM_001134831.2(AHI1):c.3579T>C (p.Thr1193=) variant DOID:0110998 Joubert syndrome 3 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Joubert syndrome 3 PMID:25741868|PMID:28492532 10048393 CV193200 NM_001040142.2(SCN2A):c.5645G>A (p.Arg1882Gln) variant DOID:0050562 West syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: West syndrome PMID:23708187|PMID:25326635|PMID:25741868|PMID:26291284|PMID:26645390|PMID:26993267|PMID:28379373|PMID:28492532|PMID:29844171|PMID:31558572|PMID:33818783 10048393 CV193200 NM_001040142.2(SCN2A):c.5645G>A (p.Arg1882Gln) variant DOID:0080421 developmental and epileptic encephalopathy 11 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 PMID:23708187|PMID:25326635|PMID:25741868|PMID:26291284|PMID:26645390|PMID:26993267|PMID:28379373|PMID:28492532|PMID:29844171|PMID:31558572|PMID:33818783 10048393 CV193200 NM_001040142.2(SCN2A):c.5645G>A (p.Arg1882Gln) variant DOID:0081116 benign familial infantile seizures 3 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 PMID:23708187|PMID:25326635|PMID:25741868|PMID:26291284|PMID:26645390|PMID:26993267|PMID:28379373|PMID:28492532|PMID:29844171|PMID:31558572|PMID:33818783 10048393 CV193200 NM_001040142.2(SCN2A):c.5645G>A (p.Arg1882Gln) variant DOID:1826 epilepsy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:23708187|PMID:25326635|PMID:25741868|PMID:26291284|PMID:26645390|PMID:26993267|PMID:28379373|PMID:28492532|PMID:29844171|PMID:31558572|PMID:33818783 10048393 CV193200 NM_001040142.2(SCN2A):c.5645G>A (p.Arg1882Gln) variant DOID:1827 generalized epilepsy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:23708187|PMID:25326635|PMID:25741868|PMID:26291284|PMID:26645390|PMID:26993267|PMID:28379373|PMID:28492532|PMID:29844171|PMID:31558572|PMID:33818783 10048394 CV193202 NM_025074.7(FRAS1):c.3312T>C (p.Ser1104=) variant DOID:0111405 Fraser syndrome 1 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Fraser syndrome 1 PMID:25741868|PMID:28492532 10048395 CV193203 NM_025074.7(FRAS1):c.3406G>A (p.Glu1136Lys) variant DOID:0111405 Fraser syndrome 1 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Fraser syndrome 1 PMID:25741868|PMID:28492532 10048398 CV193208 NM_182961.4(SYNE1):c.3188T>C (p.Val1063Ala) variant DOID:0070249 autosomal dominant Emery-Dreifuss muscular dystrophy 4 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant PMID:23352163|PMID:25133958|PMID:25741868|PMID:26467025|PMID:28492532 10048398 CV193208 NM_182961.4(SYNE1):c.3188T>C (p.Val1063Ala) variant DOID:0111618 autosomal recessive spinocerebellar ataxia 8 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 PMID:23352163|PMID:25133958|PMID:25741868|PMID:26467025|PMID:28492532 10048399 CV193209 NM_052989.3(IFT122):c.3244A>G (p.Ile1082Val) variant DOID:0080803 cranioectodermal dysplasia 1 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Cranioectodermal dysplasia 1 PMID:25741868|PMID:28492532 10048400 CV193213 NM_138694.4(PKHD1):c.2854G>A (p.Gly952Arg) variant DOID:0050770 polycystic liver disease IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Polycystic liver disease PMID:16133180|PMID:25741868|PMID:27225849|PMID:28492532|PMID:33845788 10048400 CV193213 NM_138694.4(PKHD1):c.2854G>A (p.Gly952Arg) variant DOID:0080212 polycystic kidney disease 4 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease 4 PMID:16133180|PMID:25741868|PMID:27225849|PMID:28492532|PMID:33845788 10048400 CV193213 NM_138694.4(PKHD1):c.2854G>A (p.Gly952Arg) variant DOID:0110860 polycystic kidney disease 3 IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: PKD3 PMID:16133180|PMID:25741868|PMID:27225849|PMID:28492532|PMID:33845788 10048400 CV193213 NM_138694.4(PKHD1):c.2854G>A (p.Gly952Arg) variant DOID:0110861 autosomal recessive polycystic kidney disease IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease PMID:16133180|PMID:25741868|PMID:27225849|PMID:28492532|PMID:33845788 10048400 CV193213 NM_138694.4(PKHD1):c.2854G>A (p.Gly952Arg) variant DOID:898 autosomal dominant polycystic kidney disease IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1 PMID:16133180|PMID:25741868|PMID:27225849|PMID:28492532|PMID:33845788 10048401 CV193215 NM_001384474.1(LOXHD1):c.4148C>G (p.Thr1383Arg) variant DOID:0110525 autosomal recessive nonsyndromic deafness 77 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 77 PMID:25741868|PMID:28492532 10048401 CV193215 NM_001384474.1(LOXHD1):c.4148C>G (p.Thr1383Arg) variant DOID:630 genetic disease IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10048404 CV193262 NM_000392.5(ABCC2):c.3972C>T (p.Ile1324=) variant DOID:12308 Dubin-Johnson syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dubin-Johnson syndrome PMID:25741868|PMID:28492532 10048405 CV193263 NM_000392.5(ABCC2):c.3872C>T (p.Pro1291Leu) variant DOID:12308 Dubin-Johnson syndrome IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: ABCC2-related condition PMID:25741868|PMID:28492532 10048409 CV193277 NM_001849.4(COL6A2):c.2871G>A (p.Leu957=) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:28492532 10048410 CV193279 NM_001849.4(COL6A2):c.2462-5dup variant DOID:0050663 Bethlem myopathy IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Collagen VI-related myopathy PMID:28492532 10048410 CV193279 NM_001849.4(COL6A2):c.2462-5dup variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:28492532 10048410 CV193279 NM_001849.4(COL6A2):c.2462-5dup variant DOID:9007626 Myosclerosis, Autosomal Recessive IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Myosclerosis PMID:28492532 10048411 CV193281 NM_001849.4(COL6A2):c.2944A>G (p.Met982Val) variant DOID:0050663 Bethlem myopathy IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Myopathy, benign congenital, with contractures PMID:25741868|PMID:28492532 10048411 CV193281 NM_001849.4(COL6A2):c.2944A>G (p.Met982Val) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: BETHLEM MYOPATHY 1A PMID:25741868|PMID:28492532 10048411 CV193281 NM_001849.4(COL6A2):c.2944A>G (p.Met982Val) variant DOID:9007626 Myosclerosis, Autosomal Recessive IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Myosclerosis PMID:25741868|PMID:28492532 10048412 CV193287 NM_004006.3(DMD):c.3838A>T (p.Lys1280Ter) variant DOID:11723 Duchenne muscular dystrophy IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:16770791|PMID:25007885|PMID:28492532 10048413 CV193290 NM_001244008.2(KIF1A):c.3259C>T (p.Pro1087Ser) variant DOID:0070039 NESCAV syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: NEURODEGENERATION AND SPASTICITY WITH OR WITHOUT CEREBELLAR ATROPHY OR CORTICAL VISUAL IMPAIRMENT PMID:21376300|PMID:25741868|PMID:26467025|PMID:28492532 10048413 CV193290 NM_001244008.2(KIF1A):c.3259C>T (p.Pro1087Ser) variant DOID:0070147 hereditary sensory neuropathy type 2C IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIC PMID:21376300|PMID:25741868|PMID:26467025|PMID:28492532 10048413 CV193290 NM_001244008.2(KIF1A):c.3259C>T (p.Pro1087Ser) variant DOID:0070647 hereditary spastic paraplegia 30A IAGP D RGD:8554872 20240723 ClinVar ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 30, AUTOSOMAL DOMINANT PMID:21376300|PMID:25741868|PMID:26467025|PMID:28492532 10048413 CV193290 NM_001244008.2(KIF1A):c.3259C>T (p.Pro1087Ser) variant DOID:0110781 hereditary spastic paraplegia 30 IAGP D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 30, autosomal recessive PMID:21376300|PMID:25741868|PMID:26467025|PMID:28492532 10048413 CV193290 NM_001244008.2(KIF1A):c.3259C>T (p.Pro1087Ser) variant DOID:2476 hereditary spastic paraplegia IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:21376300|PMID:25741868|PMID:26467025|PMID:28492532 10048414 CV193293 NM_006445.4(PRPF8):c.4467C>T (p.Leu1489=) variant DOID:0110403 retinitis pigmentosa 13 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 13 PMID:25741868|PMID:28492532 10048414 CV193293 NM_006445.4(PRPF8):c.4467C>T (p.Leu1489=) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532 10048415 CV193294 NM_001364905.1(LRBA):c.4569+9C>T variant DOID:0081151 common variable immunodeficiency 8 IAGP D RGD:8554872 20211109 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency 8, with autoimmunity PMID:24033266|PMID:25741868|PMID:28492532 10048416 CV193295 NM_014014.5(SNRNP200):c.3654C>T (p.Ser1218=) variant DOID:0110366 retinitis pigmentosa 33 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 33 PMID:25741868|PMID:28492532 10048416 CV193295 NM_014014.5(SNRNP200):c.3654C>T (p.Ser1218=) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532 10048416 CV193295 NM_014014.5(SNRNP200):c.3654C>T (p.Ser1218=) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532 10048417 CV193296 NM_014639.4(SKIC3):c.2808G>A (p.Trp936Ter) variant DOID:0111415 trichohepatoenteric syndrome 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Trichohepatoenteric syndrome 1 PMID:20176027|PMID:21120949|PMID:23326254|PMID:28492532 10048418 CV193301 NM_017617.5(NOTCH1):c.5168-10G>A variant DOID:0080333 aortic valve disease 1 IAGP D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Aortic valve disease 1 PMID:16614245|PMID:19245433|PMID:19635999|PMID:22858860|PMID:25741868|PMID:28492532 10048418 CV193301 NM_017617.5(NOTCH1):c.5168-10G>A variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:16614245|PMID:19245433|PMID:19635999|PMID:22858860|PMID:25741868|PMID:28492532 10048418 CV193301 NM_017617.5(NOTCH1):c.5168-10G>A variant DOID:9005781 Adams-Oliver Syndrome 5 IAGP D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:16614245|PMID:19245433|PMID:19635999|PMID:22858860|PMID:25741868|PMID:28492532 10048419 CV193303 NM_053025.4(MYLK):c.4764G>A (p.Pro1588=) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection PMID:25741868|PMID:28492532 10048419 CV193303 NM_053025.4(MYLK):c.4764G>A (p.Pro1588=) variant DOID:9000719 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 PMID:25741868|PMID:28492532 10048419 CV193303 NM_053025.4(MYLK):c.4764G>A (p.Pro1588=) variant DOID:9006750 Familial Thoracic Aortic Aneurysm 7 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 PMID:25741868|PMID:28492532 10048420 CV193310 NM_001267550.2(TTN):c.88594+1G>T variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23975875|PMID:25589632|PMID:28492532 10048421 CV193312 NM_001267550.2(TTN):c.88979_88985del (p.Asp29660fs) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23975875|PMID:25589632|PMID:28492532 10048423 CV193328 NM_001458.5(FLNC):c.4928-7T>C variant DOID:0080096 myofibrillar myopathy 5 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 5 PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10048425 CV193332 NM_001852.4(COL9A2):c.1551C>T (p.Gly517=) variant DOID:65 connective tissue disease IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:26467025|PMID:28492532 10048426 CV193335 NM_003482.4(KMT2D):c.6180C>T (p.Tyr2060=) variant DOID:0060473 Kabuki syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Kabuki syndrome PMID:25741868|PMID:26467025|PMID:28492532 10048426 CV193335 NM_003482.4(KMT2D):c.6180C>T (p.Tyr2060=) variant DOID:9001255 Kabuki Syndrome 1 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868|PMID:26467025|PMID:28492532 10048427 CV193336 NM_001130987.2(DYSF):c.3095A>G (p.Tyr1032Cys) variant DOID:0070199 Miyoshi muscular dystrophy 1 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Miyoshi muscular dystrophy 1 PMID:15827562|PMID:20544924|PMID:25741868|PMID:26467025|PMID:27602406|PMID:28492532|PMID:33250842 10048427 CV193336 NM_001130987.2(DYSF):c.3095A>G (p.Tyr1032Cys) variant DOID:0110274 autosomal recessive limb-girdle muscular dystrophy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy PMID:15827562|PMID:20544924|PMID:25741868|PMID:26467025|PMID:27602406|PMID:28492532|PMID:33250842 10048427 CV193336 NM_001130987.2(DYSF):c.3095A>G (p.Tyr1032Cys) variant DOID:0110276 autosomal recessive limb-girdle muscular dystrophy type 2B IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 3 PMID:15827562|PMID:20544924|PMID:25741868|PMID:26467025|PMID:27602406|PMID:28492532|PMID:33250842 10048428 CV193339 NM_014714.4(IFT140):c.4040+10C>T variant DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly IAGP D RGD:8554872 20190312 ClinVar ClinVar Annotator: match by term: Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia PMID:28492532 10048432 CV193347 NM_001384732.1(CPLANE1):c.5738-6C>T variant DOID:0110986 Joubert Syndrome 17 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Joubert syndrome 17 PMID:28492532 10048432 CV193347 NM_001384732.1(CPLANE1):c.5738-6C>T variant DOID:630 genetic disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10048433 CV193358 NM_000017.4(ACADS):c.360C>T (p.Asn120=) variant DOID:0080154 short chain acyl-CoA dehydrogenase deficiency IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase PMID:25741868|PMID:28492532 10048434 CV193359 NM_000019.4(ACAT1):c.203G>T (p.Gly68Val) variant DOID:14723 beta-ketothiolase deficiency IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Deficiency of acetyl-CoA acetyltransferase PMID:28492532 10048435 CV193362 NM_000035.4(ALDOB):c.324+8C>G variant DOID:5204 fructose-1,6-bisphosphatase deficiency IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Fructose-1-phosphate aldolase deficiency PMID:28492532 10048435 CV193362 NM_000035.4(ALDOB):c.324+8C>G variant DOID:9869 hereditary fructose intolerance syndrome IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Hereditary fructose intolerance PMID:28492532 10048436 CV48619 NM_000049.4(ASPA):c.433-2A>G variant DOID:3613 Canavan disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spongy degeneration of central nervous system PMID:12638939|PMID:16199547|PMID:28492532|PMID:8023850 10048436 CV48619 NM_000049.4(ASPA):c.433-2A>G variant DOID:630 genetic disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12638939|PMID:16199547|PMID:28492532|PMID:8023850 10048438 CV193366 NM_000089.4(COL1A2):c.87T>C (p.Thr29=) variant DOID:0080728 Ehlers-Danlos syndrome arthrochalasia type 2 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Ehlers-danlos syndrome, arthrochalasia type, 2 PMID:25741868|PMID:26467025|PMID:28492532 10048438 CV193366 NM_000089.4(COL1A2):c.87T>C (p.Thr29=) variant DOID:0110334 osteogenesis imperfecta type 1 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type I PMID:25741868|PMID:26467025|PMID:28492532 10048438 CV193366 NM_000089.4(COL1A2):c.87T>C (p.Thr29=) variant DOID:12347 osteogenesis imperfecta IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:25741868|PMID:26467025|PMID:28492532 10048438 CV193366 NM_000089.4(COL1A2):c.87T>C (p.Thr29=) variant DOID:14720 Ehlers-Danlos syndrome classic type 1 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 PMID:25741868|PMID:26467025|PMID:28492532 10048439 CV193367 NM_000089.4(COL1A2):c.82-12A>G variant DOID:0080728 Ehlers-Danlos syndrome arthrochalasia type 2 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Ehlers-danlos syndrome, arthrochalasia type, 2 PMID:25741868|PMID:26467025|PMID:28492532 10048439 CV193367 NM_000089.4(COL1A2):c.82-12A>G variant DOID:0110334 osteogenesis imperfecta type 1 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type I PMID:25741868|PMID:26467025|PMID:28492532 10048439 CV193367 NM_000089.4(COL1A2):c.82-12A>G variant DOID:12347 osteogenesis imperfecta IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:25741868|PMID:26467025|PMID:28492532 10048440 CV193368 NM_000101.4(CYBA):c.203+8T>C variant DOID:0070193 autosomal recessive chronic granulomatous disease 4 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:25741868|PMID:28492532 10048440 CV193368 NM_000101.4(CYBA):c.203+8T>C variant DOID:3265 chronic granulomatous disease IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Chronic granulomatous disease PMID:25741868|PMID:28492532 10048441 CV193370 NM_000112.4(SLC26A2):c.1721T>C (p.Ile574Thr) variant DOID:0070300 multiple epiphyseal dysplasia 4 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Multiple epiphyseal dysplasia with bilayered patellae PMID:17393463|PMID:25741868|PMID:28492532 10048441 CV193370 NM_000112.4(SLC26A2):c.1721T>C (p.Ile574Thr) variant DOID:0080055 achondrogenesis type IB IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Achondrogenesis Fraccaro type PMID:17393463|PMID:25741868|PMID:28492532 10048441 CV193370 NM_000112.4(SLC26A2):c.1721T>C (p.Ile574Thr) variant DOID:14687 diastrophic dysplasia IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Diastrophic dysplasia PMID:17393463|PMID:25741868|PMID:28492532 10048441 CV193370 NM_000112.4(SLC26A2):c.1721T>C (p.Ile574Thr) variant DOID:65 connective tissue disease IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disease PMID:17393463|PMID:25741868|PMID:28492532 10048441 CV193370 NM_000112.4(SLC26A2):c.1721T>C (p.Ile574Thr) variant DOID:9006897 Atelosteogenesis Type 2 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Atelosteogenesis type II PMID:17393463|PMID:25741868|PMID:28492532 10048442 CV193374 NM_000124.4(ERCC6):c.528A>G (p.Arg176=) variant DOID:0080910 cerebrooculofacioskeletal syndrome IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: COFS syndrome PMID:25741868|PMID:28492532 10048442 CV193374 NM_000124.4(ERCC6):c.528A>G (p.Arg176=) variant DOID:2962 Cockayne syndrome IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Cockayne syndrome PMID:25741868|PMID:28492532 10048442 CV193374 NM_000124.4(ERCC6):c.528A>G (p.Arg176=) variant DOID:4448 macular degeneration IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Macular degeneration PMID:25741868|PMID:28492532 10048443 CV193376 NM_000127.3(EXT1):c.1065C>T (p.Cys355=) variant DOID:206 hereditary multiple exostoses IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Hereditary multiple exostosis PMID:25741868|PMID:28492532 10048443 CV193376 NM_000127.3(EXT1):c.1065C>T (p.Cys355=) variant DOID:9003050 Multiple Exostoses Type I IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: EXOSTOSES, MULTIPLE, TYPE I PMID:25741868|PMID:28492532 10048444 CV193378 NM_000141.5(FGFR2):c.294G>A (p.Thr98=) variant DOID:0050660 Beare-Stevenson cutis gyrata syndrome IAGP D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Cutis Gyrata syndrome of Beare and Stevenson PMID:17264867|PMID:25741868|PMID:26467025|PMID:28492532 10048444 CV193378 NM_000141.5(FGFR2):c.294G>A (p.Thr98=) variant DOID:12960 acrocephalosyndactylia IAGP D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Apert syndrome PMID:17264867|PMID:25741868|PMID:26467025|PMID:28492532 10048444 CV193378 NM_000141.5(FGFR2):c.294G>A (p.Thr98=) variant DOID:14768 Saethre-Chotzen syndrome IAGP D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Saethre-Chotzen syndrome PMID:17264867|PMID:25741868|PMID:26467025|PMID:28492532 10048444 CV193378 NM_000141.5(FGFR2):c.294G>A (p.Thr98=) variant DOID:2339 Crouzon syndrome IAGP D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Craniofacial dysostosis type 1 PMID:17264867|PMID:25741868|PMID:26467025|PMID:28492532 10048444 CV193378 NM_000141.5(FGFR2):c.294G>A (p.Thr98=) variant DOID:2340 craniosynostosis IAGP D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Premature closure of cranial sutures PMID:17264867|PMID:25741868|PMID:26467025|PMID:28492532 10048444 CV193378 NM_000141.5(FGFR2):c.294G>A (p.Thr98=) variant DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive IAGP D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:17264867|PMID:25741868|PMID:26467025|PMID:28492532 10048445 CV193379 NM_000141.5(FGFR2):c.159G>A (p.Ala53=) variant DOID:0050660 Beare-Stevenson cutis gyrata syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Cutis Gyrata syndrome of Beare and Stevenson PMID:25741868|PMID:28492532 10048445 CV193379 NM_000141.5(FGFR2):c.159G>A (p.Ala53=) variant DOID:12960 acrocephalosyndactylia IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Saethre-Chotzen syndrome PMID:25741868|PMID:28492532 10048445 CV193379 NM_000141.5(FGFR2):c.159G>A (p.Ala53=) variant DOID:14768 Saethre-Chotzen syndrome IAGP D RGD:8554872 20180508 ClinVar ClinVar Annotator: match by term: Saethre-Chotzen syndrome PMID:25741868|PMID:28492532 10048445 CV193379 NM_000141.5(FGFR2):c.159G>A (p.Ala53=) variant DOID:2339 Crouzon syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Craniofacial dysostosis type 1 PMID:25741868|PMID:28492532 10048445 CV193379 NM_000141.5(FGFR2):c.159G>A (p.Ala53=) variant DOID:2340 craniosynostosis IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Craniostenosis PMID:25741868|PMID:28492532 10048445 CV193379 NM_000141.5(FGFR2):c.159G>A (p.Ala53=) variant DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive IAGP D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:25741868|PMID:28492532 10048446 CV193381 NM_000142.5(FGFR3):c.348C>T (p.Arg116=) variant DOID:4480 achondroplasia IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Achondroplasia PMID:25741868|PMID:28492532 10048446 CV193381 NM_000142.5(FGFR3):c.348C>T (p.Arg116=) variant DOID:65 connective tissue disease IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 10048448 CV193388 NM_000174.5(GP9):c.466G>A (p.Ala156Thr) variant DOID:2217 Bernard-Soulier syndrome IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Bernard Soulier syndrome PMID:15351858|PMID:25741868|PMID:28492532 10048449 CV193395 NM_000202.8(IDS):c.314_317dup (p.Ser107fs) variant DOID:12799 mucopolysaccharidosis II IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-II PMID:22976768|PMID:25741868 10048451 CV51200 NM_000232.5(SGCB):c.341C>T (p.Ser114Phe) variant DOID:0110279 autosomal recessive limb-girdle muscular dystrophy type 2E IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Beta-sarcoglycan limb-girdle muscular dystrophy PMID:10942431|PMID:10993494|PMID:18285821|PMID:18996010|PMID:20071171|PMID:22095924|PMID:23349452|PMID:25135358|PMID:25741868|PMID:25862795|PMID:26404900|PMID:26467025|PMID:26990548|PMID:28492532|PMID:30564623|PMID:30919934|PMID:31980526|PMID:32528171|PMID:9032047 10048451 CV51200 NM_000232.5(SGCB):c.341C>T (p.Ser114Phe) variant DOID:630 genetic disease IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10942431|PMID:10993494|PMID:18285821|PMID:18996010|PMID:20071171|PMID:22095924|PMID:23349452|PMID:25135358|PMID:25741868|PMID:25862795|PMID:26404900|PMID:26467025|PMID:26990548|PMID:28492532|PMID:30564623|PMID:30919934|PMID:31980526|PMID:32528171|PMID:9032047 10048452 CV193399 NM_000235.4(LIPA):c.112-6C>T variant DOID:0080217 lysosomal acid lipase deficiency IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Lysosomal acid lipase deficiency PMID:25741868|PMID:28492532 10048452 CV193399 NM_000235.4(LIPA):c.112-6C>T variant DOID:14497 Wolman disease IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Wolman disease PMID:25741868|PMID:28492532 10048453 CV193402 NM_000261.2(MYOC):c.855G>T (p.Thr285=) variant DOID:1068 juvenile glaucoma IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Glaucoma of childhood PMID:25741868|PMID:28492532 10048453 CV193402 NM_000261.2(MYOC):c.855G>T (p.Thr285=) variant DOID:1686 glaucoma IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Glaucoma PMID:25741868|PMID:28492532 10048454 CV193403 NM_000262.3(NAGA):c.279G>A (p.Pro93=) variant DOID:0112318 Schindler disease type 1 IAGP D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Alpha-N-acetylgalactosaminidase deficiency type 1 PMID:25741868|PMID:28492532 10048454 CV193403 NM_000262.3(NAGA):c.279G>A (p.Pro93=) variant DOID:0112319 Kanzaki disease IAGP D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Alpha-N-acetylgalactosaminidase deficiency type 2 PMID:25741868|PMID:28492532 10048456 CV193408 NM_000302.4(PLOD1):c.295G>A (p.Ala99Thr) variant DOID:0080734 Ehlers-Danlos syndrome kyphoscoliotic type 1 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, hydroxylysine-deficient PMID:25741868|PMID:28492532 10048456 CV193408 NM_000302.4(PLOD1):c.295G>A (p.Ala99Thr) variant DOID:13359 Ehlers-Danlos syndrome IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:25741868|PMID:28492532 10048456 CV193408 NM_000302.4(PLOD1):c.295G>A (p.Ala99Thr) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10048457 CV193412 NM_000321.3(RB1):c.297G>A (p.Trp99Ter) variant DOID:768 retinoblastoma IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Retinoblastoma PMID:12402348|PMID:17096365|PMID:28492532|PMID:29568217|PMID:7795591 10048457 CV193412 NM_000321.3(RB1):c.297G>A (p.Trp99Ter) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:12402348|PMID:17096365|PMID:28492532|PMID:29568217|PMID:7795591 10048458 CV193413 NM_000327.4(ROM1):c.868del (p.Gln290fs) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant PMID:28492532 10048459 CV193418 NM_000346.4(SOX9):c.1113G>A (p.Ala371=) variant DOID:0050463 campomelic dysplasia IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Camptomelic dysplasia PMID:25741868|PMID:28492532 10048459 CV193418 NM_000346.4(SOX9):c.1113G>A (p.Ala371=) variant DOID:65 connective tissue disease IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 10048462 CV193423 NM_000388.4(CASR):c.748G>A (p.Glu250Lys) variant DOID:0060699 familial hypocalciuric hypercalcemia IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Familial benign hypercalcemia PMID:11807402|PMID:17698911|PMID:21521328|PMID:22192860|PMID:22422767|PMID:25741868|PMID:26467025|PMID:28492532 10048462 CV193423 NM_000388.4(CASR):c.748G>A (p.Glu250Lys) variant DOID:0060700 familial hypocalciuric hypercalcemia 1 IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Hypercalcemia, familial benign type 1 PMID:11807402|PMID:17698911|PMID:21521328|PMID:22192860|PMID:22422767|PMID:25741868|PMID:26467025|PMID:28492532 10048462 CV193423 NM_000388.4(CASR):c.748G>A (p.Glu250Lys) variant DOID:0090107 autosomal dominant hypocalcemia 1 IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Autosomal dominant hypocalcemia 1 PMID:11807402|PMID:17698911|PMID:21521328|PMID:22192860|PMID:22422767|PMID:25741868|PMID:26467025|PMID:28492532 10048462 CV193423 NM_000388.4(CASR):c.748G>A (p.Glu250Lys) variant DOID:0111387 familial isolated hypoparathyroidism IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Familial isolated hypoparathyroidism PMID:11807402|PMID:17698911|PMID:21521328|PMID:22192860|PMID:22422767|PMID:25741868|PMID:26467025|PMID:28492532 10048462 CV193423 NM_000388.4(CASR):c.748G>A (p.Glu250Lys) variant DOID:11202 primary hyperparathyroidism IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Familial benign hypercalcemia PMID:11807402|PMID:17698911|PMID:21521328|PMID:22192860|PMID:22422767|PMID:25741868|PMID:26467025|PMID:28492532 10048462 CV193423 NM_000388.4(CASR):c.748G>A (p.Glu250Lys) variant DOID:9000874 Hyperparathyroidism, Neonatal Severe Primary IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Neonatal severe primary hyperparathyroidism PMID:11807402|PMID:17698911|PMID:21521328|PMID:22192860|PMID:22422767|PMID:25741868|PMID:26467025|PMID:28492532 10048462 CV193423 NM_000388.4(CASR):c.748G>A (p.Glu250Lys) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:11807402|PMID:17698911|PMID:21521328|PMID:22192860|PMID:22422767|PMID:25741868|PMID:26467025|PMID:28492532 10048462 CV193423 NM_000388.4(CASR):c.748G>A (p.Glu250Lys) variant DOID:9009313 Idiopathic Generalized Epilepsy 8 IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Epilepsy, idiopathic generalized 8 PMID:11807402|PMID:17698911|PMID:21521328|PMID:22192860|PMID:22422767|PMID:25741868|PMID:26467025|PMID:28492532 10048463 CV193428 NM_001384910.1(GUCA1A):c.9C>T (p.Asn3=) variant DOID:0080314 cone-rod dystrophy 14 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Cone dystrophy 3 PMID:28492532 10048464 CV193438 NM_000492.4(CFTR):c.220C>T (p.Arg74Trp) variant DOID:0080526 bronchiectasis 1 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1 PMID:10386624|PMID:10875853|PMID:10923036|PMID:12127423|PMID:12439892|PMID:14963811|PMID:15287992|PMID:15371903|PMID:15520400|PMID:15744517|PMID:15858154|PMID:17329263|PMID:17331079|PMID:17975025|PMID:18456578|PMID:18703181|PMID:20460946|PMID:20880762|PMID:20981092|PMID:21520337|PMID:22992668|PMID:23420618|PMID:23687349|PMID:23891399|PMID:23951356|PMID:23974870|PMID:24033266|PMID:24451227|PMID:24525081|PMID:25033378|PMID:25304080|PMID:25741868|PMID:25910067|PMID:26014425|PMID:26467025|PMID:26900683|PMID:26946416|PMID:27022295|PMID:27264265|PMID:27738188|PMID:28492532|PMID:28546993|PMID:28603918|PMID:29271547|PMID:29859674|PMID:30600599|PMID:31005549|PMID:31350925|PMID:31665830|PMID:32172930|PMID:32256364|PMID:32357917|PMID:32484936|PMID:32687833|PMID:32773111|PMID:32819855|PMID:32926152|PMID:32934006|PMID:33020115|PMID:33260873|PMID:33341408|PMID:33572515|PMID:33771570|PMID:33946859|PMID:33949881|PMID:34086689|PMID:34996830|PMID:35171259|PMID:35451201|PMID:35527187|PMID:35626323|PMID:35698092|PMID:36142302|PMID:36293274|PMID:36409994|PMID:36631132|PMID:36670555|PMID:36828084|PMID:36982273|PMID:37327085|PMID:37431359|PMID:38388235|PMID:7513889|PMID:7529962|PMID:7532150|PMID:7691344 10048464 CV193438 NM_000492.4(CFTR):c.220C>T (p.Arg74Trp) variant DOID:0111864 autosomal recessive congenital bilateral absence of vas deferens IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Congenital bilateral aplasia of vas deferens from CFTR mutation PMID:10386624|PMID:10875853|PMID:10923036|PMID:12127423|PMID:12439892|PMID:14963811|PMID:15287992|PMID:15371903|PMID:15520400|PMID:15744517|PMID:15858154|PMID:17329263|PMID:17331079|PMID:17975025|PMID:18456578|PMID:18703181|PMID:20460946|PMID:20880762|PMID:20981092|PMID:21520337|PMID:22992668|PMID:23420618|PMID:23687349|PMID:23891399|PMID:23951356|PMID:23974870|PMID:24033266|PMID:24451227|PMID:24525081|PMID:25033378|PMID:25304080|PMID:25741868|PMID:25910067|PMID:26014425|PMID:26467025|PMID:26900683|PMID:26946416|PMID:27022295|PMID:27264265|PMID:27738188|PMID:28492532|PMID:28546993|PMID:28603918|PMID:29271547|PMID:29859674|PMID:30600599|PMID:31005549|PMID:31350925|PMID:31665830|PMID:32172930|PMID:32256364|PMID:32357917|PMID:32484936|PMID:32687833|PMID:32773111|PMID:32819855|PMID:32926152|PMID:32934006|PMID:33020115|PMID:33260873|PMID:33341408|PMID:33572515|PMID:33771570|PMID:33946859|PMID:33949881|PMID:34086689|PMID:34996830|PMID:35171259|PMID:35451201|PMID:35527187|PMID:35626323|PMID:35698092|PMID:36142302|PMID:36293274|PMID:36409994|PMID:36631132|PMID:36670555|PMID:36828084|PMID:36982273|PMID:37327085|PMID:37431359|PMID:38388235|PMID:7513889|PMID:7529962|PMID:7532150|PMID:7691344 10048464 CV193438 NM_000492.4(CFTR):c.220C>T (p.Arg74Trp) variant DOID:1485 cystic fibrosis IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Cystic fibrosis PMID:10386624|PMID:10875853|PMID:10923036|PMID:12127423|PMID:12439892|PMID:14963811|PMID:15287992|PMID:15371903|PMID:15520400|PMID:15744517|PMID:15858154|PMID:17329263|PMID:17331079|PMID:17975025|PMID:18456578|PMID:18703181|PMID:20460946|PMID:20880762|PMID:20981092|PMID:21520337|PMID:22992668|PMID:23420618|PMID:23687349|PMID:23891399|PMID:23951356|PMID:23974870|PMID:24033266|PMID:24451227|PMID:24525081|PMID:25033378|PMID:25304080|PMID:25741868|PMID:25910067|PMID:26014425|PMID:26467025|PMID:26900683|PMID:26946416|PMID:27022295|PMID:27264265|PMID:27738188|PMID:28492532|PMID:28546993|PMID:28603918|PMID:29271547|PMID:29859674|PMID:30600599|PMID:31005549|PMID:31350925|PMID:31665830|PMID:32172930|PMID:32256364|PMID:32357917|PMID:32484936|PMID:32687833|PMID:32773111|PMID:32819855|PMID:32926152|PMID:32934006|PMID:33020115|PMID:33260873|PMID:33341408|PMID:33572515|PMID:33771570|PMID:33946859|PMID:33949881|PMID:34086689|PMID:34996830|PMID:35171259|PMID:35451201|PMID:35527187|PMID:35626323|PMID:35698092|PMID:36142302|PMID:36293274|PMID:36409994|PMID:36631132|PMID:36670555|PMID:36828084|PMID:36982273|PMID:37327085|PMID:37431359|PMID:38388235|PMID:7513889|PMID:7529962|PMID:7532150|PMID:7691344 10048464 CV193438 NM_000492.4(CFTR):c.220C>T (p.Arg74Trp) variant DOID:9008999 Hereditary Pancreatitis IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Hereditary pancreatitis PMID:10386624|PMID:10875853|PMID:10923036|PMID:12127423|PMID:12439892|PMID:14963811|PMID:15287992|PMID:15371903|PMID:15520400|PMID:15744517|PMID:15858154|PMID:17329263|PMID:17331079|PMID:17975025|PMID:18456578|PMID:18703181|PMID:20460946|PMID:20880762|PMID:20981092|PMID:21520337|PMID:22992668|PMID:23420618|PMID:23687349|PMID:23891399|PMID:23951356|PMID:23974870|PMID:24033266|PMID:24451227|PMID:24525081|PMID:25033378|PMID:25304080|PMID:25741868|PMID:25910067|PMID:26014425|PMID:26467025|PMID:26900683|PMID:26946416|PMID:27022295|PMID:27264265|PMID:27738188|PMID:28492532|PMID:28546993|PMID:28603918|PMID:29271547|PMID:29859674|PMID:30600599|PMID:31005549|PMID:31350925|PMID:31665830|PMID:32172930|PMID:32256364|PMID:32357917|PMID:32484936|PMID:32687833|PMID:32773111|PMID:32819855|PMID:32926152|PMID:32934006|PMID:33020115|PMID:33260873|PMID:33341408|PMID:33572515|PMID:33771570|PMID:33946859|PMID:33949881|PMID:34086689|PMID:34996830|PMID:35171259|PMID:35451201|PMID:35527187|PMID:35626323|PMID:35698092|PMID:36142302|PMID:36293274|PMID:36409994|PMID:36631132|PMID:36670555|PMID:36828084|PMID:36982273|PMID:37327085|PMID:37431359|PMID:38388235|PMID:7513889|PMID:7529962|PMID:7532150|PMID:7691344 10048464 CV193438 NM_000492.4(CFTR):c.220C>T (p.Arg74Trp) variant DOID:9563 bronchiectasis IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Cystic Fibrosis-Like Syndrome PMID:10386624|PMID:10875853|PMID:10923036|PMID:12127423|PMID:12439892|PMID:14963811|PMID:15287992|PMID:15371903|PMID:15520400|PMID:15744517|PMID:15858154|PMID:17329263|PMID:17331079|PMID:17975025|PMID:18456578|PMID:18703181|PMID:20460946|PMID:20880762|PMID:20981092|PMID:21520337|PMID:22992668|PMID:23420618|PMID:23687349|PMID:23891399|PMID:23951356|PMID:23974870|PMID:24033266|PMID:24451227|PMID:24525081|PMID:25033378|PMID:25304080|PMID:25741868|PMID:25910067|PMID:26014425|PMID:26467025|PMID:26900683|PMID:26946416|PMID:27022295|PMID:27264265|PMID:27738188|PMID:28492532|PMID:28546993|PMID:28603918|PMID:29271547|PMID:29859674|PMID:30600599|PMID:31005549|PMID:31350925|PMID:31665830|PMID:32172930|PMID:32256364|PMID:32357917|PMID:32484936|PMID:32687833|PMID:32773111|PMID:32819855|PMID:32926152|PMID:32934006|PMID:33020115|PMID:33260873|PMID:33341408|PMID:33572515|PMID:33771570|PMID:33946859|PMID:33949881|PMID:34086689|PMID:34996830|PMID:35171259|PMID:35451201|PMID:35527187|PMID:35626323|PMID:35698092|PMID:36142302|PMID:36293274|PMID:36409994|PMID:36631132|PMID:36670555|PMID:36828084|PMID:36982273|PMID:37327085|PMID:37431359|PMID:38388235|PMID:7513889|PMID:7529962|PMID:7532150|PMID:7691344 10048465 CV193439 NM_000500.9(CYP21A2):c.293-13C>A variant DOID:9003733 Congenital Adrenal Hyperplasia due to 21 Hydroxylase Deficiency IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency PMID:25741868|PMID:28492532 10048466 CV193441 NM_000514.4(GDNF):c.540A>G (p.Arg180=) variant DOID:10487 Hirschsprung's disease IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 3 PMID:25741868|PMID:28492532 10048467 CV193443 NM_000539.3(RHO):c.541G>A (p.Glu181Lys) variant DOID:0110372 retinitis pigmentosa 4 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 4 PMID:11139241|PMID:1833777|PMID:19913029|PMID:21094163|PMID:24265693|PMID:24935155|PMID:25741868|PMID:28041643|PMID:28492532|PMID:29068140|PMID:30718709|PMID:30977563|PMID:31054281|PMID:31213501|PMID:31456290|PMID:32581362|PMID:33749171|PMID:33781268|PMID:36460718|PMID:36819107|PMID:8253795 10048467 CV193443 NM_000539.3(RHO):c.541G>A (p.Glu181Lys) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:11139241|PMID:1833777|PMID:19913029|PMID:21094163|PMID:24265693|PMID:24935155|PMID:25741868|PMID:28041643|PMID:28492532|PMID:29068140|PMID:30718709|PMID:30977563|PMID:31054281|PMID:31213501|PMID:31456290|PMID:32581362|PMID:33749171|PMID:33781268|PMID:36460718|PMID:36819107|PMID:8253795 10048467 CV193443 NM_000539.3(RHO):c.541G>A (p.Glu181Lys) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11139241|PMID:1833777|PMID:19913029|PMID:21094163|PMID:24265693|PMID:24935155|PMID:25741868|PMID:28041643|PMID:28492532|PMID:29068140|PMID:30718709|PMID:30977563|PMID:31054281|PMID:31213501|PMID:31456290|PMID:32581362|PMID:33749171|PMID:33781268|PMID:36460718|PMID:36819107|PMID:8253795 10048468 CV193445 NM_000551.4(VHL):c.586A>T (p.Lys196Ter) variant DOID:0060474 familial erythrocytosis 2 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Chuvash polycythemia PMID:19096585|PMID:19270817|PMID:19333546|PMID:24555745|PMID:25078357|PMID:25741868|PMID:27539324|PMID:28492532|PMID:29124493 10048468 CV193445 NM_000551.4(VHL):c.586A>T (p.Lys196Ter) variant DOID:14175 von Hippel-Lindau disease IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Von Hippel-Lindau syndrome PMID:19096585|PMID:19270817|PMID:19333546|PMID:24555745|PMID:25078357|PMID:25741868|PMID:27539324|PMID:28492532|PMID:29124493 10048469 CV193447 NM_000642.3(AGL):c.256C>T (p.Gln86Ter) variant DOID:2748 glycogen storage disease III IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Glycogen storage disease type III PMID:10655153|PMID:19299494|PMID:20648714|PMID:22899091|PMID:25525159|PMID:25741868|PMID:28492532 10048469 CV193447 NM_000642.3(AGL):c.256C>T (p.Gln86Ter) variant DOID:9000150 Glycogen Storage Disease IIIA IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IIIa PMID:10655153|PMID:19299494|PMID:20648714|PMID:22899091|PMID:25525159|PMID:25741868|PMID:28492532 10048470 CV193455 NM_001004334.4(GPR179):c.909= (p.Val303=) variant DOID:0110869 congenital stationary night blindness 1E IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness 1E PMID:25741868|PMID:28492532 10048472 CV193457 NM_000157.4(GBA1):c.38A>G (p.Lys13Arg) variant DOID:1926 Gaucher's disease IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Gaucher disease PMID:25741868 10048473 CV193459 NM_001017420.3(ESCO2):c.147C>G (p.Cys49Trp) variant DOID:5325 Roberts syndrome IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Roberts-SC phocomelia syndrome PMID:28492532 10048474 CV193461 NM_001017420.3(ESCO2):c.764T>C (p.Phe255Ser) variant DOID:5325 Roberts syndrome IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Roberts-SC phocomelia syndrome PMID:25741868|PMID:28492532 10048475 CV193462 NM_001024630.4(RUNX2):c.240G>A (p.Ala80=) variant DOID:13994 cleidocranial dysplasia IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Cleidocranial dysostosis PMID:25741868|PMID:28492532 10048476 CV193464 NM_001037.5(SCN1B):c.347del (p.Ser116fs) variant DOID:0110222 Brugada syndrome 5 IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Brugada syndrome 5 PMID:18464934|PMID:28492532|PMID:29056246 10048477 CV193465 NM_001038.6(SCNN1A):c.540G>T (p.Leu180=) variant DOID:0080527 bronchiectasis 2 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 2 PMID:25741868 10048477 CV193465 NM_001038.6(SCNN1A):c.540G>T (p.Leu180=) variant DOID:9006963 Pseudohypoaldosteronism Type IB1, Autosomal Recessive IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Pseudohypoaldosteronism, type IB1, autosomal recessive PMID:25741868 10048478 CV193466 NM_001038.6(SCNN1A):c.541C>T (p.Arg181Trp) variant DOID:0080527 bronchiectasis 2 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 2 PMID:25741868 10048478 CV193466 NM_001038.6(SCNN1A):c.541C>T (p.Arg181Trp) variant DOID:9006963 Pseudohypoaldosteronism Type IB1, Autosomal Recessive IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Pseudohypoaldosteronism, type IB1, autosomal recessive PMID:25741868 10048480 CV193468 NM_001044385.3(TMEM237):c.75-13T>C variant DOID:0110983 Joubert syndrome 14 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Joubert syndrome 14 PMID:25741868|PMID:28492532 10048481 CV193471 NM_012418.4(FSCN2):c.1092C>T (p.Ile364=) variant DOID:0110406 retinitis pigmentosa 30 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 30 PMID:25741868|PMID:28492532 10048482 CV193473 NM_001111.5(ADAR):c.1760A>G (p.Tyr587Cys) variant DOID:0060257 dyschromatosis symmetrica hereditaria IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities PMID:25741868|PMID:28492532 10048482 CV193473 NM_001111.5(ADAR):c.1760A>G (p.Tyr587Cys) variant DOID:9007522 Aicardi-Goutieres Syndrome 6 IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 6 PMID:25741868|PMID:28492532 10048483 CV193479 NM_001173467.3(SP7):c.864G>A (p.Leu288=) variant DOID:0110348 osteogenesis imperfecta type 12 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 12 PMID:25741868|PMID:28492532 10048483 CV193479 NM_001173467.3(SP7):c.864G>A (p.Leu288=) variant DOID:12347 osteogenesis imperfecta IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:25741868|PMID:28492532 10048484 CV193481 NM_001173990.3(TMEM216):c.211G>T (p.Val71Leu) variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:25741868|PMID:28492532 10048484 CV193481 NM_001173990.3(TMEM216):c.211G>T (p.Val71Leu) variant DOID:0110988 Joubert Syndrome 2 IAGP D RGD:8554872 20210119 ClinVar ClinVar Annotator: match by term: Joubert syndrome type 2 PMID:25741868|PMID:28492532 10048485 CV193483 NM_001200.4(BMP2):c.570A>T (p.Arg190Ser) variant DOID:9004675 Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies PMID:25741868|PMID:28492532 10048487 CV193485 NM_001235.5(SERPINH1):c.721+9T>C variant DOID:0110346 osteogenesis imperfecta type 10 IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 10 PMID:25741868|PMID:28492532 10048487 CV193485 NM_001235.5(SERPINH1):c.721+9T>C variant DOID:12347 osteogenesis imperfecta IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:25741868|PMID:28492532 10048488 CV193488 NM_001845.6(COL4A1):c.161C>T (p.Pro54Leu) variant DOID:0060263 porencephaly IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: PORENCEPHALY, TYPE 1, AUTOSOMAL DOMINANT PMID:25741868|PMID:28492532 10048488 CV193488 NM_001845.6(COL4A1):c.161C>T (p.Pro54Leu) variant DOID:0090125 brain small vessel disease 1 IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: LEUKOENCEPHALOPATHY WITH AXENFELD-RIEGER ANOMALY PMID:25741868|PMID:28492532 10048488 CV193488 NM_001845.6(COL4A1):c.161C>T (p.Pro54Leu) variant DOID:784 chronic kidney disease IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:25741868|PMID:28492532 10048488 CV193488 NM_001845.6(COL4A1):c.161C>T (p.Pro54Leu) variant DOID:9003529 Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps PMID:25741868|PMID:28492532 10048489 CV193489 NM_001845.6(COL4A1):c.234+8C>T variant DOID:0060263 porencephaly IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: PORENCEPHALY, TYPE 1, AUTOSOMAL DOMINANT PMID:25741868|PMID:26467025|PMID:28492532 10048489 CV193489 NM_001845.6(COL4A1):c.234+8C>T variant DOID:0090125 brain small vessel disease 1 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Brain small vessel disease with hemorrhage PMID:25741868|PMID:26467025|PMID:28492532 10048489 CV193489 NM_001845.6(COL4A1):c.234+8C>T variant DOID:9003529 Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps PMID:25741868|PMID:26467025|PMID:28492532 10048490 CV193491 NM_001849.4(COL6A2):c.510C>T (p.Cys170=) variant DOID:0050663 Bethlem myopathy IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Collagen VI-related myopathy PMID:25741868|PMID:28492532 10048490 CV193491 NM_001849.4(COL6A2):c.510C>T (p.Cys170=) variant DOID:0060946 Ullrich congenital muscular dystrophy 1A IAGP D RGD:8554872 20230627 ClinVar ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1 PMID:25741868|PMID:28492532 10048490 CV193491 NM_001849.4(COL6A2):c.510C>T (p.Cys170=) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:25741868|PMID:28492532 10048490 CV193491 NM_001849.4(COL6A2):c.510C>T (p.Cys170=) variant DOID:630 genetic disease IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10048490 CV193491 NM_001849.4(COL6A2):c.510C>T (p.Cys170=) variant DOID:9007626 Myosclerosis, Autosomal Recessive IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Myosclerosis PMID:25741868|PMID:28492532 10048491 CV193492 NM_001849.4(COL6A2):c.483C>T (p.Thr161=) variant DOID:0050663 Bethlem myopathy IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Myopathy, benign congenital, with contractures PMID:25741868|PMID:28492532 10048491 CV193492 NM_001849.4(COL6A2):c.483C>T (p.Thr161=) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:25741868|PMID:28492532 10048491 CV193492 NM_001849.4(COL6A2):c.483C>T (p.Thr161=) variant DOID:9007626 Myosclerosis, Autosomal Recessive IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Myosclerosis PMID:25741868|PMID:28492532 10048492 CV193498 NM_002087.4(GRN):c.264+7G>A variant DOID:0060672 frontotemporal dementia 2 IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia, ubiquitin-positive PMID:17345602|PMID:25741868|PMID:26467025|PMID:28492532 10048493 CV193499 NM_002103.5(GYS1):c.492+9C>T variant DOID:9005648 Glycogen Storage Disease 0, Muscle IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Glycogen storage disease 0, muscle PMID:28492532 10048495 CV193504 NM_001252024.2(TRPM1):c.161G>A (p.Ser54Asn) variant DOID:0110867 congenital stationary night blindness 1C IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness, type 1C PMID:25741868|PMID:28492532 10048496 CV193506 NM_001252024.2(TRPM1):c.234T>C (p.Tyr78=) variant DOID:0110867 congenital stationary night blindness 1C IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness 1C PMID:25741868|PMID:28492532 10048497 CV193510 NM_002546.4(TNFRSF11B):c.401-5T>C variant DOID:0081368 Paget's disease of bone 5 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hyperphosphatasemia with bone disease PMID:25741868|PMID:28492532 10048498 CV193515 NM_002693.3(POLG):c.803G>C (p.Gly268Ala) variant DOID:0080122 Alpers-Huttenlocher syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Neuronal degeneration of childhood with liver disease, progressive PMID:14557557|PMID:14635118|PMID:16401742|PMID:16940310|PMID:18546365|PMID:19578034|PMID:21880868|PMID:23921535|PMID:24508722|PMID:25118206|PMID:25462018|PMID:25741868|PMID:26095671|PMID:26357557|PMID:26467025|PMID:27119776|PMID:27987238|PMID:28128857|PMID:28492532|PMID:29474836|PMID:30404819|PMID:30637288|PMID:32949115|PMID:34023347|PMID:34504347|PMID:34504726|PMID:34803902|PMID:37091313 10048498 CV193515 NM_002693.3(POLG):c.803G>C (p.Gly268Ala) variant DOID:0080123 mitochondrial DNA depletion syndrome 4B IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4b PMID:14557557|PMID:14635118|PMID:16401742|PMID:16940310|PMID:18546365|PMID:19578034|PMID:21880868|PMID:23921535|PMID:24508722|PMID:25118206|PMID:25462018|PMID:25741868|PMID:26095671|PMID:26357557|PMID:26467025|PMID:27119776|PMID:27987238|PMID:28128857|PMID:28492532|PMID:29474836|PMID:30404819|PMID:30637288|PMID:32949115|PMID:34023347|PMID:34504347|PMID:34504726|PMID:34803902|PMID:37091313 10048498 CV193515 NM_002693.3(POLG):c.803G>C (p.Gly268Ala) variant DOID:0110173 Charcot-Marie-Tooth disease axonal type 2U IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U PMID:14557557|PMID:14635118|PMID:16401742|PMID:16940310|PMID:18546365|PMID:19578034|PMID:21880868|PMID:23921535|PMID:24508722|PMID:25118206|PMID:25462018|PMID:25741868|PMID:26095671|PMID:26357557|PMID:26467025|PMID:27119776|PMID:27987238|PMID:28128857|PMID:28492532|PMID:29474836|PMID:30404819|PMID:30637288|PMID:32949115|PMID:34023347|PMID:34504347|PMID:34504726|PMID:34803902|PMID:37091313 10048498 CV193515 NM_002693.3(POLG):c.803G>C (p.Gly268Ala) variant DOID:0111276 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE PMID:14557557|PMID:14635118|PMID:16401742|PMID:16940310|PMID:18546365|PMID:19578034|PMID:21880868|PMID:23921535|PMID:24508722|PMID:25118206|PMID:25462018|PMID:25741868|PMID:26095671|PMID:26357557|PMID:26467025|PMID:27119776|PMID:27987238|PMID:28128857|PMID:28492532|PMID:29474836|PMID:30404819|PMID:30637288|PMID:32949115|PMID:34023347|PMID:34504347|PMID:34504726|PMID:34803902|PMID:37091313 10048498 CV193515 NM_002693.3(POLG):c.803G>C (p.Gly268Ala) variant DOID:0111521 autosomal dominant progressive external ophthalmoplegia 1 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 PMID:14557557|PMID:14635118|PMID:16401742|PMID:16940310|PMID:18546365|PMID:19578034|PMID:21880868|PMID:23921535|PMID:24508722|PMID:25118206|PMID:25462018|PMID:25741868|PMID:26095671|PMID:26357557|PMID:26467025|PMID:27119776|PMID:27987238|PMID:28128857|PMID:28492532|PMID:29474836|PMID:30404819|PMID:30637288|PMID:32949115|PMID:34023347|PMID:34504347|PMID:34504726|PMID:34803902|PMID:37091313 10048498 CV193515 NM_002693.3(POLG):c.803G>C (p.Gly268Ala) variant DOID:0111522 autosomal recessive progressive external ophthalmoplegia 1 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1 PMID:14557557|PMID:14635118|PMID:16401742|PMID:16940310|PMID:18546365|PMID:19578034|PMID:21880868|PMID:23921535|PMID:24508722|PMID:25118206|PMID:25462018|PMID:25741868|PMID:26095671|PMID:26357557|PMID:26467025|PMID:27119776|PMID:27987238|PMID:28128857|PMID:28492532|PMID:29474836|PMID:30404819|PMID:30637288|PMID:32949115|PMID:34023347|PMID:34504347|PMID:34504726|PMID:34803902|PMID:37091313 10048498 CV193515 NM_002693.3(POLG):c.803G>C (p.Gly268Ala) variant DOID:2476 hereditary spastic paraplegia IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:14557557|PMID:14635118|PMID:16401742|PMID:16940310|PMID:18546365|PMID:19578034|PMID:21880868|PMID:23921535|PMID:24508722|PMID:25118206|PMID:25462018|PMID:25741868|PMID:26095671|PMID:26357557|PMID:26467025|PMID:27119776|PMID:27987238|PMID:28128857|PMID:28492532|PMID:29474836|PMID:30404819|PMID:30637288|PMID:32949115|PMID:34023347|PMID:34504347|PMID:34504726|PMID:34803902|PMID:37091313 10048498 CV193515 NM_002693.3(POLG):c.803G>C (p.Gly268Ala) variant DOID:630 genetic disease IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14557557|PMID:14635118|PMID:16401742|PMID:16940310|PMID:18546365|PMID:19578034|PMID:21880868|PMID:23921535|PMID:24508722|PMID:25118206|PMID:25462018|PMID:25741868|PMID:26095671|PMID:26357557|PMID:26467025|PMID:27119776|PMID:27987238|PMID:28128857|PMID:28492532|PMID:29474836|PMID:30404819|PMID:30637288|PMID:32949115|PMID:34023347|PMID:34504347|PMID:34504726|PMID:34803902|PMID:37091313 10048498 CV193515 NM_002693.3(POLG):c.803G>C (p.Gly268Ala) variant DOID:9008631 progressive myoclonus epilepsy 5 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5 PMID:14557557|PMID:14635118|PMID:16401742|PMID:16940310|PMID:18546365|PMID:19578034|PMID:21880868|PMID:23921535|PMID:24508722|PMID:25118206|PMID:25462018|PMID:25741868|PMID:26095671|PMID:26357557|PMID:26467025|PMID:27119776|PMID:27987238|PMID:28128857|PMID:28492532|PMID:29474836|PMID:30404819|PMID:30637288|PMID:32949115|PMID:34023347|PMID:34504347|PMID:34504726|PMID:34803902|PMID:37091313 10048499 CV193516 NM_002951.5(RPN2):c.265T>C (p.Tyr89His) variant DOID:5212 congenital disorder of glycosylation IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:28492532 10048500 CV193523 NM_003361.4(UMOD):c.840C>T (p.Pro280=) variant DOID:0061122 autosomal dominant tubulointerstitial kidney disease 1 IAGP D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 1 PMID:25741868|PMID:26467025|PMID:28492532 10048500 CV193523 NM_003361.4(UMOD):c.840C>T (p.Pro280=) variant DOID:557 kidney disease IAGP D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney disease PMID:25741868|PMID:26467025|PMID:28492532 10048501 CV193524 NM_003361.4(UMOD):c.538C>G (p.Leu180Val) variant DOID:0061122 autosomal dominant tubulointerstitial kidney disease 1 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: UMOD-related condition PMID:25741868|PMID:26467025|PMID:28492532|PMID:32450155|PMID:35947615 10048503 CV193526 NM_003722.5(TP63):c.192-9_192-8del variant DOID:0050601 ADULT syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Acro-dermato-ungual-lacrimal-tooth syndrome PMID:25741868|PMID:28492532 10048503 CV193526 NM_003722.5(TP63):c.192-9_192-8del variant DOID:0060330 Rapp-Hodgkin syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ectodermal dysplasia, anhidrotic, with cleft lip/palate PMID:25741868|PMID:28492532 10048503 CV193526 NM_003722.5(TP63):c.192-9_192-8del variant DOID:0060782 EEC syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome PMID:25741868|PMID:28492532 10048503 CV193526 NM_003722.5(TP63):c.192-9_192-8del variant DOID:0060783 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 PMID:25741868|PMID:28492532 10048503 CV193526 NM_003722.5(TP63):c.192-9_192-8del variant DOID:0080401 orofacial cleft 8 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Orofacial cleft 8 PMID:25741868|PMID:28492532 10048503 CV193526 NM_003722.5(TP63):c.192-9_192-8del variant DOID:0090023 split hand-foot malformation 4 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Split-hand/foot malformation 4 PMID:25741868|PMID:28492532 10048503 CV193526 NM_003722.5(TP63):c.192-9_192-8del variant DOID:0090119 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ankyloblepharon-ectodermal defects, cleft lip/palate PMID:25741868|PMID:28492532 10048503 CV193526 NM_003722.5(TP63):c.192-9_192-8del variant DOID:9002385 Limb-Mammary Syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Mammary hypoplasia, ectrodactyly, and other hand/foot anomalies PMID:25741868|PMID:28492532 10048503 CV193526 NM_003722.5(TP63):c.192-9_192-8del variant DOID:9006424 Cleft Lip with or without Cleft Palate, Nonsyndromic, 8 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cleft lip with or without cleft palate, nonsyndromic, 8 PMID:25741868|PMID:28492532 10048504 CV193529 NM_003923.3(FOXH1):c.373A>T (p.Thr125Ser) variant DOID:4621 holoprosencephaly IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:18538293|PMID:25741868|PMID:28492532 10048505 CV193531 NM_003923.3(FOXH1):c.783T>C (p.Pro261=) variant DOID:4621 holoprosencephaly IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Holoprosencephaly PMID:28492532 10048506 CV193532 NM_003924.4(PHOX2B):c.741_755del (p.Ala256_Ala260del) variant DOID:9000270 Congenital Central Hypoventilation Syndrome 1 IAGP D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Haddad syndrome PMID:12631670|PMID:12640453|PMID:14709596|PMID:17637745|PMID:24033266|PMID:25741868|PMID:28433712|PMID:28492532 10048506 CV193532 NM_003924.4(PHOX2B):c.741_755del (p.Ala256_Ala260del) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:12631670|PMID:12640453|PMID:14709596|PMID:17637745|PMID:24033266|PMID:25741868|PMID:28433712|PMID:28492532 10048507 CV193533 NM_004006.3(DMD):c.133C>T (p.Gln45Ter) variant DOID:11723 Duchenne muscular dystrophy IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:15643612|PMID:16770791|PMID:25007885|PMID:25741868|PMID:28492532 10048509 CV193538 NM_004273.5(CHST3):c.1173C>A (p.Ile391=) variant DOID:0050813 spondyloepiphyseal dysplasia with congenital joint dislocations IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia with congenital joint dislocations PMID:25741868|PMID:28492532 10048510 CV193539 NM_004273.5(CHST3):c.417C>T (p.Ala139=) variant DOID:0050813 spondyloepiphyseal dysplasia with congenital joint dislocations IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia with congenital joint dislocations PMID:28492532 10048510 CV193539 NM_004273.5(CHST3):c.417C>T (p.Ala139=) variant DOID:14764 Larsen syndrome IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Larsen syndrome PMID:28492532 10048510 CV193539 NM_004273.5(CHST3):c.417C>T (p.Ala139=) variant DOID:14789 spondyloepiphyseal dysplasia congenita IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia congenita PMID:28492532 10048510 CV193539 NM_004273.5(CHST3):c.417C>T (p.Ala139=) variant DOID:2256 osteochondrodysplasia IAGP D RGD:8554872 20230613 ClinVar ClinVar Annotator: match by term: Skeletal dysplasia PMID:28492532 10048511 CV193545 NM_004393.6(DAG1):c.1233G>A (p.Val411=) variant DOID:0110293 autosomal recessive limb-girdle muscular dystrophy type 2P IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 PMID:25741868|PMID:26467025|PMID:28492532 10048511 CV193545 NM_004393.6(DAG1):c.1233G>A (p.Val411=) variant DOID:0111232 congenital muscular dystrophy-dystroglycanopathy type A9 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 PMID:25741868|PMID:26467025|PMID:28492532 10048512 CV193550 NM_004463.3(FGD1):c.527dup (p.Leu177fs) variant DOID:0111824 Aarskog syndrome IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Aarskog disease PMID:14560308|PMID:21739585|PMID:23211637|PMID:25046119|PMID:25741868|PMID:26029706|PMID:28492532|PMID:29276006|PMID:39033378 10048512 CV193550 NM_004463.3(FGD1):c.527dup (p.Leu177fs) variant DOID:6683 X-linked Aarskog syndrome IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: FGD1-Related Disorders PMID:14560308|PMID:21739585|PMID:23211637|PMID:25046119|PMID:25741868|PMID:26029706|PMID:28492532|PMID:29276006|PMID:39033378 10048513 CV193556 NM_001005242.3(PKP2):c.368G>A (p.Trp123Ter) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:15489853|PMID:17041889|PMID:22035158|PMID:23911551|PMID:25445213|PMID:25741868|PMID:28492532|PMID:28600387|PMID:30847666|PMID:31402444|PMID:31447099|PMID:32372669|PMID:32397162|PMID:32659924|PMID:34469894|PMID:34816084 10048513 CV193556 NM_001005242.3(PKP2):c.368G>A (p.Trp123Ter) variant DOID:0110077 arrhythmogenic right ventricular dysplasia 9 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 PMID:15489853|PMID:17041889|PMID:22035158|PMID:23911551|PMID:25445213|PMID:25741868|PMID:28492532|PMID:28600387|PMID:30847666|PMID:31402444|PMID:31447099|PMID:32372669|PMID:32397162|PMID:32659924|PMID:34469894|PMID:34816084 10048514 CV193559 NM_004817.4(TJP2):c.239+19T>C variant DOID:0061181 familial hypercholanemia 1 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypercholanemia, familial 1 PMID:25741868|PMID:28492532 10048514 CV193559 NM_004817.4(TJP2):c.239+19T>C variant DOID:0070224 progressive familial intrahepatic cholestasis 4 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 4 PMID:25741868|PMID:28492532 10048516 CV193565 NM_005029.4(PITX3):c.285C>T (p.Ile95=) variant DOID:0080606 anterior segment dysgenesis 1 IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Anterior segment dysgenesis 1 PMID:25741868|PMID:28492532 10048516 CV193565 NM_005029.4(PITX3):c.285C>T (p.Ile95=) variant DOID:0110249 cataract 11 multiple types IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: CATARACT 11, MULTIPLE TYPES PMID:25741868|PMID:28492532 10048517 CV193568 NM_005220.3(DLX3):c.832G>A (p.Gly278Arg) variant DOID:0110053 amelogenesis imperfecta type 4 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Amelogenesis imperfecta, type IV PMID:25741868|PMID:28492532 10048518 CV193572 NM_005476.7(GNE):c.600C>T (p.Ile200=) variant DOID:0080718 GNE myopathy IAGP D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Inclusion body myopathy quadriceps sparing PMID:25741868|PMID:26467025|PMID:28492532 10048518 CV193572 NM_005476.7(GNE):c.600C>T (p.Ile200=) variant DOID:0081363 distal myopathy with rimmed vacuoles IAGP D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: MYOPATHY, DISTAL, WITH OR WITHOUT RIMMED VACUOLES PMID:25741868|PMID:26467025|PMID:28492532 10048518 CV193572 NM_005476.7(GNE):c.600C>T (p.Ile200=) variant DOID:3659 sialuria IAGP D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Sialuria PMID:25741868|PMID:26467025|PMID:28492532 10048518 CV193572 NM_005476.7(GNE):c.600C>T (p.Ile200=) variant DOID:9001727 French Type Sialuria IAGP D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Sialuria, French type PMID:25741868|PMID:26467025|PMID:28492532 10048519 CV193576 NM_005677.4(COLQ):c.291G>A (p.Ser97=) variant DOID:0110667 congenital myasthenic syndrome 5 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Endplate acetylcholinesterase deficiency PMID:25741868|PMID:28492532 10048520 CV193579 NM_005802.5(TOPORS):c.814A>G (p.Ile272Val) variant DOID:0110391 retinitis pigmentosa 31 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: TOPORS-related condition PMID:25741868|PMID:28492532 10048520 CV193579 NM_005802.5(TOPORS):c.814A>G (p.Ile272Val) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532 10048521 CV193587 NM_005802.5(TOPORS):c.2643C>G (p.His881Gln) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532 10048522 CV193590 NM_005957.5(MTHFR):c.417G>A (p.Thr139=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10048522 CV193590 NM_005957.5(MTHFR):c.417G>A (p.Thr139=) variant DOID:9001648 Methylenetetrahydrofolate Reductase Deficiency IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency PMID:28492532 10048523 CV193591 NM_005957.5(MTHFR):c.276C>T (p.Asp92=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10048523 CV193591 NM_005957.5(MTHFR):c.276C>T (p.Asp92=) variant DOID:9001648 Methylenetetrahydrofolate Reductase Deficiency IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency PMID:28492532 10048524 CV193595 NM_006261.5(PROP1):c.424G>A (p.Ala142Thr) variant DOID:0061020 combined pituitary hormone deficiency 2 IAGP D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Pituitary hormone deficiency, combined 2 PMID:11549703|PMID:15963055|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10048525 CV193596 NM_006269.2(RP1):c.616-6T>C variant DOID:0110390 retinitis pigmentosa 1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 1 PMID:25741868|PMID:28041643|PMID:28492532 10048525 CV193596 NM_006269.2(RP1):c.616-6T>C variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28041643|PMID:28492532 10048526 CV193597 NM_006445.4(PRPF8):c.101-3C>T variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532 10048527 CV193606 NM_006922.4(SCN3A):c.171T>C (p.Ala57=) variant DOID:0080420 developmental and epileptic encephalopathy 62 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 62 PMID:25741868|PMID:26467025|PMID:28492532 10048527 CV193606 NM_006922.4(SCN3A):c.171T>C (p.Ala57=) variant DOID:0081424 familial focal epilepsy with variable foci 4 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: SCN3A-related condition PMID:25741868|PMID:26467025|PMID:28492532 10048528 CV193608 NM_007129.5(ZIC2):c.1326C>T (p.Ser442=) variant DOID:0110878 holoprosencephaly 5 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:25741868|PMID:28492532 10048529 CV193611 NM_001077365.2(POMT1):c.123-6_123-5dup variant DOID:0110274 autosomal recessive limb-girdle muscular dystrophy IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive PMID:25741868|PMID:28492532 10048529 CV193611 NM_001077365.2(POMT1):c.123-6_123-5dup variant DOID:0110297 autosomal recessive limb-girdle muscular dystrophy type 2K IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K PMID:25741868|PMID:28492532 10048531 CV193616 NM_013236.4(ATXN10):c.321G>A (p.Thr107=) variant DOID:0050960 spinocerebellar ataxia 10 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 10 PMID:25741868 10048532 CV193617 NM_014140.4(SMARCAL1):c.341G>A (p.Arg114His) variant DOID:0060490 Schimke immuno-osseous dysplasia IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Schimke immunoosseous dysplasia PMID:25741868|PMID:28492532 10048532 CV193617 NM_014140.4(SMARCAL1):c.341G>A (p.Arg114His) variant DOID:557 kidney disease IAGP D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney disease PMID:25741868|PMID:28492532 10048533 CV193626 NM_014336.5(AIPL1):c.401A>T (p.Tyr134Phe) variant DOID:0110078 Leber congenital amaurosis 1 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 1 PMID:15249368|PMID:18055820|PMID:23737531|PMID:25741868|PMID:26626312|PMID:28492532|PMID:29068479 10048533 CV193626 NM_014336.5(AIPL1):c.401A>T (p.Tyr134Phe) variant DOID:0110332 Leber congenital amaurosis 4 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 4 PMID:15249368|PMID:18055820|PMID:23737531|PMID:25741868|PMID:26626312|PMID:28492532|PMID:29068479 10048534 CV193633 NM_016032.4(ZDHHC9):c.167+10G>A variant DOID:0060824 syndromic X-linked intellectual disability Raymond type IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, RAYMOND TYPE PMID:28492532 10048536 CV193637 NM_016729.3(FOLR1):c.292C>T (p.Arg98Trp) variant DOID:0050719 cerebral folate receptor alpha deficiency IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency PMID:22695967|PMID:26467025|PMID:27781028|PMID:28492532 10048536 CV193637 NM_016729.3(FOLR1):c.292C>T (p.Arg98Trp) variant DOID:630 genetic disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22695967|PMID:26467025|PMID:27781028|PMID:28492532 10048537 CV193638 NM_017777.4(MKS1):c.213C>G (p.Asp71Glu) variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:25741868|PMID:28492532 10048537 CV193638 NM_017777.4(MKS1):c.213C>G (p.Asp71Glu) variant DOID:0050778 Meckel syndrome IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:25741868|PMID:28492532 10048537 CV193638 NM_017777.4(MKS1):c.213C>G (p.Asp71Glu) variant DOID:0070115 Meckel syndrome 1 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Meckel syndrome type 1 PMID:25741868|PMID:28492532 10048537 CV193638 NM_017777.4(MKS1):c.213C>G (p.Asp71Glu) variant DOID:0110135 Bardet-Biedl syndrome 13 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 13 PMID:25741868|PMID:28492532 10048537 CV193638 NM_017777.4(MKS1):c.213C>G (p.Asp71Glu) variant DOID:0110980 Joubert syndrome 1 IAGP D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:25741868|PMID:28492532 10048538 CV193645 NM_018100.4(EFHC1):c.475C>G (p.Arg159Gly) variant DOID:0070309 absence epilepsy IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Absence epilepsy PMID:25741868|PMID:28492532 10048538 CV193645 NM_018100.4(EFHC1):c.475C>G (p.Arg159Gly) variant DOID:4890 juvenile myoclonic epilepsy IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: EJM1 PMID:25741868|PMID:28492532 10048539 CV193653 NM_170784.3(MKKS):c.985+16T>G variant DOID:1935 Bardet-Biedl syndrome IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:25741868|PMID:28492532 10048540 CV193655 NM_018965.4(TREM2):c.469C>T (p.His157Tyr) variant DOID:9003895 Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 2 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 PMID:25741868|PMID:28492532 10048543 CV193659 NM_020549.5(CHAT):c.418C>T (p.Gln140Ter) variant DOID:0110671 congenital myasthenic syndrome 6 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Familial infantile myasthenia PMID:12548525|PMID:21786365|PMID:23292760|PMID:28492532 10048544 CV193661 NM_181332.3(NLGN4X):c.591C>T (p.Ile197=) variant DOID:0050432 Asperger syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Asperger syndrome, X-linked, susceptibility to, 2 PMID:25741868|PMID:28492532 10048544 CV193661 NM_181332.3(NLGN4X):c.591C>T (p.Ile197=) variant DOID:12849 autistic disorder IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Autism, susceptibility to, X-linked 2 PMID:25741868|PMID:28492532 10048544 CV193661 NM_181332.3(NLGN4X):c.591C>T (p.Ile197=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10048545 CV193664 NM_020822.3(KCNT1):c.333G>A (p.Ser111=) variant DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:25741868|PMID:26467025|PMID:28492532|PMID:34670123 10048545 CV193664 NM_020822.3(KCNT1):c.333G>A (p.Ser111=) variant DOID:0080439 developmental and epileptic encephalopathy 14 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:25741868|PMID:26467025|PMID:28492532|PMID:34670123 10048545 CV193664 NM_020822.3(KCNT1):c.333G>A (p.Ser111=) variant DOID:630 genetic disease IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532|PMID:34670123 10048546 CV193667 NM_021120.4(DLG3):c.409-4G>T variant DOID:0112041 non-syndromic X-linked intellectual disability 90 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: DLG3-related disorder PMID:28492532 10048546 CV193667 NM_021120.4(DLG3):c.409-4G>T variant DOID:630 genetic disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10048547 CV193672 NM_023110.3(FGFR1):c.320C>T (p.Ser107Leu) variant DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:20696889|PMID:23329143|PMID:23657145|PMID:25064402|PMID:25383892|PMID:25759380|PMID:28492532 10048547 CV193672 NM_023110.3(FGFR1):c.320C>T (p.Ser107Leu) variant DOID:0111532 osteoglophonic dysplasia IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Osteoglophonic dysplasia PMID:20696889|PMID:23329143|PMID:23657145|PMID:25064402|PMID:25383892|PMID:25759380|PMID:28492532 10048547 CV193672 NM_023110.3(FGFR1):c.320C>T (p.Ser107Leu) variant DOID:14705 Pfeiffer syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Acrocephalosyndactyly, type 5 PMID:20696889|PMID:23329143|PMID:23657145|PMID:25064402|PMID:25383892|PMID:25759380|PMID:28492532 10048547 CV193672 NM_023110.3(FGFR1):c.320C>T (p.Ser107Leu) variant DOID:2340 craniosynostosis IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Craniosynostosis PMID:20696889|PMID:23329143|PMID:23657145|PMID:25064402|PMID:25383892|PMID:25759380|PMID:28492532 10048547 CV193672 NM_023110.3(FGFR1):c.320C>T (p.Ser107Leu) variant DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:20696889|PMID:23329143|PMID:23657145|PMID:25064402|PMID:25383892|PMID:25759380|PMID:28492532 10048547 CV193672 NM_023110.3(FGFR1):c.320C>T (p.Ser107Leu) variant DOID:9008388 Trigonocephaly 1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Trigonocephaly 1 PMID:20696889|PMID:23329143|PMID:23657145|PMID:25064402|PMID:25383892|PMID:25759380|PMID:28492532 10048548 CV193673 NM_023110.3(FGFR1):c.336C>T (p.Thr112=) variant DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:25741868|PMID:28492532 10048548 CV193673 NM_023110.3(FGFR1):c.336C>T (p.Thr112=) variant DOID:0111337 Jackson-Weiss syndrome IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Craniosynostosis, midfacial hypoplasia, and foot abnormalities PMID:25741868|PMID:28492532 10048548 CV193673 NM_023110.3(FGFR1):c.336C>T (p.Thr112=) variant DOID:0111532 osteoglophonic dysplasia IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Fairbank-Keats syndrome PMID:25741868|PMID:28492532 10048548 CV193673 NM_023110.3(FGFR1):c.336C>T (p.Thr112=) variant DOID:14705 Pfeiffer syndrome IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Acrocephalosyndactyly, type 5 PMID:25741868|PMID:28492532 10048548 CV193673 NM_023110.3(FGFR1):c.336C>T (p.Thr112=) variant DOID:9004955 Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Hartsfield syndrome PMID:25741868|PMID:28492532 10048548 CV193673 NM_023110.3(FGFR1):c.336C>T (p.Thr112=) variant DOID:9007632 Encephalocraniocutaneous Lipomatosis IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Encephalocraniocutaneous lipomatosis PMID:25741868|PMID:28492532 10048548 CV193673 NM_023110.3(FGFR1):c.336C>T (p.Thr112=) variant DOID:9008388 Trigonocephaly 1 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Trigonocephaly 1 PMID:25741868|PMID:28492532 10048549 CV193674 NM_023110.3(FGFR1):c.345C>T (p.Ser115=) variant DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:26467025|PMID:28492532 10048549 CV193674 NM_023110.3(FGFR1):c.345C>T (p.Ser115=) variant DOID:0111532 osteoglophonic dysplasia IAGP D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Osteoglophonic dysplasia PMID:26467025|PMID:28492532 10048549 CV193674 NM_023110.3(FGFR1):c.345C>T (p.Ser115=) variant DOID:9008216 Craniosynostosis Syndrome, Autosomal Recessive IAGP D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Craniosynostosis syndrome PMID:26467025|PMID:28492532 10048549 CV193674 NM_023110.3(FGFR1):c.345C>T (p.Ser115=) variant DOID:9008388 Trigonocephaly 1 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Trigonocephaly 1 PMID:26467025|PMID:28492532 10048550 CV193676 NM_024596.5(MCPH1):c.182A>G (p.Asp61Gly) variant DOID:0070285 primary autosomal recessive microcephaly 1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Microcephaly 1, primary, autosomal recessive PMID:28492532 10048551 CV193681 NM_024757.5(EHMT1):c.581C>T (p.Pro194Leu) variant DOID:0060352 Kleefstra syndrome 1 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:28492532 10048551 CV193681 NM_024757.5(EHMT1):c.581C>T (p.Pro194Leu) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10048552 CV193688 NM_025219.3(DNAJC5):c.144C>T (p.Pro48=) variant DOID:0110720 neuronal ceroid lipofuscinosis 4 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 4B PMID:25741868|PMID:26467025|PMID:28492532 10048552 CV193688 NM_025219.3(DNAJC5):c.144C>T (p.Pro48=) variant DOID:14503 neuronal ceroid lipofuscinosis IAGP D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:25741868|PMID:26467025|PMID:28492532 10048552 CV193688 NM_025219.3(DNAJC5):c.144C>T (p.Pro48=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 10048552 CV193688 NM_025219.3(DNAJC5):c.144C>T (p.Pro48=) variant DOID:891 progressive myoclonus epilepsy IAGP D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive PMID:25741868|PMID:26467025|PMID:28492532 10048553 CV193689 NM_025243.4(SLC19A3):c.546G>A (p.Val182=) variant DOID:0050659 biotin-responsive basal ganglia disease IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Biotin-responsive basal ganglia disease PMID:25741868|PMID:26467025|PMID:28492532 10048555 CV193706 NM_030665.4(RAI1):c.4438A>G (p.Arg1480Gly) variant DOID:0060768 Smith-Magenis syndrome IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Smith-Magenis syndrome PMID:25741868|PMID:28492532 10048555 CV193706 NM_030665.4(RAI1):c.4438A>G (p.Arg1480Gly) variant DOID:630 genetic disease IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10048556 CV193713 NM_030665.4(RAI1):c.1656C>T (p.Ser552=) variant DOID:0060768 Smith-Magenis syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: RAI1-related condition PMID:28492532 10048556 CV193713 NM_030665.4(RAI1):c.1656C>T (p.Ser552=) variant DOID:630 genetic disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10048559 CV193741 NM_152415.3(VPS37A):c.202T>C (p.Leu68=) variant DOID:0110805 hereditary spastic paraplegia 53 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 53 PMID:25741868|PMID:28492532 10048560 CV193742 NM_001042413.2(GLIS3):c.1545G>C (p.Glu515Asp) variant DOID:0060638 neonatal diabetes mellitus with congenital hypothyroidism IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Diabetes mellitus, neonatal, with congenital hypothyroidism PMID:25741868|PMID:28492532 10048561 CV193745 NM_153427.3(PITX2):c.46+8C>G variant DOID:0050786 iridogoniodysgenesis syndrome IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Iridogoniodysgenesis syndrome PMID:25741868|PMID:28492532 10048561 CV193745 NM_153427.3(PITX2):c.46+8C>G variant DOID:0060673 Peters anomaly IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis PMID:25741868|PMID:28492532 10048561 CV193745 NM_153427.3(PITX2):c.46+8C>G variant DOID:0080609 anterior segment dysgenesis 4 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Anterior segment dysgenesis 4 PMID:25741868|PMID:28492532 10048561 CV193745 NM_153427.3(PITX2):c.46+8C>G variant DOID:0080610 anterior segment dysgenesis 5 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5 PMID:25741868|PMID:28492532 10048561 CV193745 NM_153427.3(PITX2):c.46+8C>G variant DOID:0110120 Axenfeld-Rieger syndrome type 1 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 PMID:25741868|PMID:28492532 10048561 CV193745 NM_153427.3(PITX2):c.46+8C>G variant DOID:0111548 ring dermoid of cornea IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Ring dermoid of cornea PMID:25741868|PMID:28492532 10048561 CV193745 NM_153427.3(PITX2):c.46+8C>G variant DOID:83 cataract IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Cataract PMID:25741868|PMID:28492532 10048562 CV193746 NC_000004.12:g.110632944_110632945insAA variant DOID:0110120 Axenfeld-Rieger syndrome type 1 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 PMID:28492532 10048563 CV193748 NM_153603.4(COG7):c.323dup (p.Leu108fs) variant DOID:0070257 congenital disorder of glycosylation type IIe IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: COG7 congenital disorder of glycosylation PMID:21811164|PMID:28492532 10048564 CV193753 NM_173495.3(PTCHD1):c.1494C>T (p.Thr498=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10048565 CV193755 NM_173495.3(PTCHD1):c.1665G>A (p.Val555=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10048566 CV193757 NM_173660.5(DOK7):c.220= (p.Leu74=) variant DOID:0110668 congenital myasthenic syndrome 10 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 10 PMID:25741868|PMID:28492532 10048566 CV193757 NM_173660.5(DOK7):c.220= (p.Leu74=) variant DOID:0111376 fetal akinesia deformation sequence syndrome 3 IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 3 PMID:25741868|PMID:28492532 10048566 CV193757 NM_173660.5(DOK7):c.220= (p.Leu74=) variant DOID:0111377 fetal akinesia deformation sequence syndrome 1 IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Pena-Shokeir syndrome type I PMID:25741868|PMID:28492532 10048567 CV193759 NM_001291867.2(NHS):c.828G>A (p.Glu276=) variant DOID:0060599 Nance-Horan syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Nance-Horan syndrome PMID:25741868|PMID:28492532 10048567 CV193759 NM_001291867.2(NHS):c.828G>A (p.Glu276=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10048569 CV193768 NM_000088.4(COL1A1):c.1984-5C>A variant DOID:0080727 Ehlers-Danlos syndrome arthrochalasia type 1 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Arthrochalasis multiplex congenita PMID:16879195|PMID:25525159|PMID:25741868|PMID:25963598|PMID:26467025|PMID:28492532 10048569 CV193768 NM_000088.4(COL1A1):c.1984-5C>A variant DOID:0080730 Ehlers-Danlos syndrome cardiac valvular type IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasis type PMID:16879195|PMID:25525159|PMID:25741868|PMID:25963598|PMID:26467025|PMID:28492532 10048569 CV193768 NM_000088.4(COL1A1):c.1984-5C>A variant DOID:0110334 osteogenesis imperfecta type 1 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type I PMID:16879195|PMID:25525159|PMID:25741868|PMID:25963598|PMID:26467025|PMID:28492532 10048569 CV193768 NM_000088.4(COL1A1):c.1984-5C>A variant DOID:12347 osteogenesis imperfecta IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:16879195|PMID:25525159|PMID:25741868|PMID:25963598|PMID:26467025|PMID:28492532 10048569 CV193768 NM_000088.4(COL1A1):c.1984-5C>A variant DOID:13359 Ehlers-Danlos syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:16879195|PMID:25525159|PMID:25741868|PMID:25963598|PMID:26467025|PMID:28492532 10048569 CV193768 NM_000088.4(COL1A1):c.1984-5C>A variant DOID:4257 Caffey disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Infantile cortical hyperostosis PMID:16879195|PMID:25525159|PMID:25741868|PMID:25963598|PMID:26467025|PMID:28492532 10048569 CV193768 NM_000088.4(COL1A1):c.1984-5C>A variant DOID:65 connective tissue disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Connective tissue disease PMID:16879195|PMID:25525159|PMID:25741868|PMID:25963598|PMID:26467025|PMID:28492532 10048572 CV193778 NM_001458.5(FLNC):c.5042C>G (p.Thr1681Arg) variant DOID:0080096 myofibrillar myopathy 5 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 5 PMID:25741868|PMID:28492532 10048572 CV193778 NM_001458.5(FLNC):c.5042C>G (p.Thr1681Arg) variant DOID:0110327 hypertrophic cardiomyopathy 26 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 26 PMID:25741868|PMID:28492532 10048572 CV193778 NM_001458.5(FLNC):c.5042C>G (p.Thr1681Arg) variant DOID:0111190 distal myopathy 4 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Distal myopathy with posterior leg and anterior hand involvement PMID:25741868|PMID:28492532 10048572 CV193778 NM_001458.5(FLNC):c.5042C>G (p.Thr1681Arg) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant PMID:25741868|PMID:28492532 10048573 CV193781 NM_001852.4(COL9A2):c.1741G>A (p.Val581Ile) variant DOID:0070298 multiple epiphyseal dysplasia 2 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, 2 PMID:25741868|PMID:26467025|PMID:28492532 10048576 CV193785 NM_001130987.2(DYSF):c.3303C>T (p.Tyr1101=) variant DOID:9004518 Dysferlinopathy IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dysferlinopathy PMID:25741868|PMID:28492532 10048577 CV193786 NM_001130987.2(DYSF):c.3284G>A (p.Trp1095Ter) variant DOID:9004518 Dysferlinopathy IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysferlinopathy PMID:17698709|PMID:20301480|PMID:28492532 10048578 CV193789 NM_004380.3(CREBBP):c.5115C>T (p.Tyr1705=) variant DOID:1933 Rubinstein-Taybi syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Broad thumb-hallux syndrome PMID:25741868|PMID:28492532 10048578 CV193789 NM_004380.3(CREBBP):c.5115C>T (p.Tyr1705=) variant DOID:630 genetic disease IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10048578 CV193789 NM_004380.3(CREBBP):c.5115C>T (p.Tyr1705=) variant DOID:9008974 Menke-Hennekam Syndrome 1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Menke-Hennekam syndrome 1 PMID:25741868|PMID:28492532 10048579 CV193796 NM_080680.3(COL11A2):c.2336C>T (p.Pro779Leu) variant DOID:0080026 otospondylomegaepiphyseal dysplasia, autosomal recessive IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Otospondylomegaepiphyseal dysplasia, autosomal recessive PMID:24033266|PMID:25741868|PMID:28492532 10048579 CV193796 NM_080680.3(COL11A2):c.2336C>T (p.Pro779Leu) variant DOID:0080046 Stickler syndrome IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Stickler Syndrome, Dominant PMID:24033266|PMID:25741868|PMID:28492532 10048579 CV193796 NM_080680.3(COL11A2):c.2336C>T (p.Pro779Leu) variant DOID:0080673 fibrochondrogenesis 2 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Fibrochondrogenesis 2 PMID:24033266|PMID:25741868|PMID:28492532 10048579 CV193796 NM_080680.3(COL11A2):c.2336C>T (p.Pro779Leu) variant DOID:0080677 otospondylomegaepiphyseal dysplasia, autosomal dominant IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Otospondylomegaepiphyseal dysplasia, autosomal dominant PMID:24033266|PMID:25741868|PMID:28492532 10048580 CV193797 NM_138694.4(PKHD1):c.3528dup (p.Ser1177fs) variant DOID:0080212 polycystic kidney disease 4 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease 4 PMID:15805161|PMID:19940839|PMID:25741868|PMID:28492532 10048580 CV193797 NM_138694.4(PKHD1):c.3528dup (p.Ser1177fs) variant DOID:0110861 autosomal recessive polycystic kidney disease IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease PMID:15805161|PMID:19940839|PMID:25741868|PMID:28492532 10048581 CV193798 NM_001379081.2(FREM1):c.5335-11dup variant DOID:9003259 Marles Greenberg Persaud Syndrome IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Manitoba Trichoanal syndrome PMID:28492532 10048582 CV193805 NM_001267550.2(TTN):c.99719C>G (p.Ser33240Ter) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:23975875|PMID:25589632|PMID:28492532 10048582 CV193805 NM_001267550.2(TTN):c.99719C>G (p.Ser33240Ter) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23975875|PMID:25589632|PMID:28492532 10048583 CV193812 NM_001267550.2(TTN):c.100766-10dup variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, early-onset, with fatal cardiomyopathy PMID:25741868 10048583 CV193812 NM_001267550.2(TTN):c.100766-10dup variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2J PMID:25741868 10048583 CV193812 NM_001267550.2(TTN):c.100766-10dup variant DOID:0110308 hypertrophic cardiomyopathy 2 IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 2 PMID:25741868 10048583 CV193812 NM_001267550.2(TTN):c.100766-10dup variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:25741868 10048583 CV193812 NM_001267550.2(TTN):c.100766-10dup variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:25741868 10048584 CV193818 NM_001267550.2(TTN):c.107163_107167del (p.Phe35721fs) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2J PMID:25741868 10048585 CV193824 NM_000552.5(VWF):c.5313G>T (p.Gly1771=) variant DOID:0060573 von Willebrand's disease 1 IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: von Willebrand disease type 1 PMID:25741868|PMID:26467025|PMID:34662354 10048585 CV193824 NM_000552.5(VWF):c.5313G>T (p.Gly1771=) variant DOID:0060574 von Willebrand's disease 2 IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: von Willebrand disease type 2 PMID:25741868|PMID:26467025|PMID:34662354 10048585 CV193824 NM_000552.5(VWF):c.5313G>T (p.Gly1771=) variant DOID:0111054 von Willebrand's disease 3 IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: von Willebrand disease type 3 PMID:25741868|PMID:26467025|PMID:34662354 10048586 CV193834 NM_001297.5(CNGB1):c.3135C>T (p.Asn1045=) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532 10048587 CV193835 NM_001297.5(CNGB1):c.3115G>A (p.Gly1039Arg) variant DOID:0110402 retinitis pigmentosa 45 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: CNGB1-related condition PMID:25741868|PMID:28492532 10048587 CV193835 NM_001297.5(CNGB1):c.3115G>A (p.Gly1039Arg) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532 10048587 CV193835 NM_001297.5(CNGB1):c.3115G>A (p.Gly1039Arg) variant DOID:630 genetic disease IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10048588 CV193836 NM_001429.4(EP300):c.5259C>T (p.Cys1753=) variant DOID:1933 Rubinstein-Taybi syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 PMID:28492532 10048589 CV193839 NM_001429.4(EP300):c.6729C>T (p.Gly2243=) variant DOID:1933 Rubinstein-Taybi syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 PMID:25741868|PMID:28492532 10048592 CV193851 NM_003482.4(KMT2D):c.7046C>T (p.Pro2349Leu) variant DOID:0060473 Kabuki syndrome IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Kabuki syndrome PMID:25741868|PMID:28492532 10048592 CV193851 NM_003482.4(KMT2D):c.7046C>T (p.Pro2349Leu) variant DOID:9001255 Kabuki Syndrome 1 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868|PMID:28492532 10048594 CV193853 NM_003482.4(KMT2D):c.7903C>T (p.Arg2635Ter) variant DOID:0060473 Kabuki syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kabuki syndrome PMID:21658225|PMID:22126750|PMID:24633898|PMID:27302555|PMID:28492532 10048595 CV193854 NM_003482.4(KMT2D):c.6349C>T (p.Pro2117Ser) variant DOID:0060473 Kabuki syndrome IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Kabuki syndrome PMID:28492532 10048596 CV193855 NM_001130987.2(DYSF):c.3403-2A>G variant DOID:0070199 Miyoshi muscular dystrophy 1 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Miyoshi muscular dystrophy 1 PMID:16199547|PMID:17698709|PMID:19528035|PMID:20301480|PMID:25312915|PMID:25741868|PMID:28492532 10048596 CV193855 NM_001130987.2(DYSF):c.3403-2A>G variant DOID:0110274 autosomal recessive limb-girdle muscular dystrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy PMID:16199547|PMID:17698709|PMID:19528035|PMID:20301480|PMID:25312915|PMID:25741868|PMID:28492532 10048596 CV193855 NM_001130987.2(DYSF):c.3403-2A>G variant DOID:0110276 autosomal recessive limb-girdle muscular dystrophy type 2B IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 3 PMID:16199547|PMID:17698709|PMID:19528035|PMID:20301480|PMID:25312915|PMID:25741868|PMID:28492532 10048600 CV193873 NM_025074.7(FRAS1):c.4308+10G>T variant DOID:0090001 Fraser syndrome IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Cryptophthalmos with other malformations PMID:25741868|PMID:28492532 10048600 CV193873 NM_025074.7(FRAS1):c.4308+10G>T variant DOID:0111405 Fraser syndrome 1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Fraser syndrome 1 PMID:25741868|PMID:28492532 10048601 CV193875 NM_025114.4(CEP290):c.3654T>C (p.Leu1218=) variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:25741868|PMID:28492532 10048601 CV193875 NM_025114.4(CEP290):c.3654T>C (p.Leu1218=) variant DOID:0070118 Meckel syndrome 4 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 4 PMID:25741868|PMID:28492532 10048601 CV193875 NM_025114.4(CEP290):c.3654T>C (p.Leu1218=) variant DOID:0110136 Bardet-Biedl syndrome 14 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 14 PMID:25741868|PMID:28492532 10048601 CV193875 NM_025114.4(CEP290):c.3654T>C (p.Leu1218=) variant DOID:0110291 Leber congenital amaurosis 10 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 10 PMID:25741868|PMID:28492532 10048601 CV193875 NM_025114.4(CEP290):c.3654T>C (p.Leu1218=) variant DOID:0111000 Joubert syndrome 5 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Joubert syndrome 5 PMID:25741868|PMID:28492532 10048601 CV193875 NM_025114.4(CEP290):c.3654T>C (p.Leu1218=) variant DOID:14791 Leber congenital amaurosis IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:25741868|PMID:28492532 10048601 CV193875 NM_025114.4(CEP290):c.3654T>C (p.Leu1218=) variant DOID:9008709 Senior-Loken Syndrome 6 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 6 PMID:25741868|PMID:28492532 10048604 CV193889 NM_000093.5(COL5A1):c.2695G>A (p.Gly899Ser) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10048604 CV193889 NM_000093.5(COL5A1):c.2695G>A (p.Gly899Ser) variant DOID:14720 Ehlers-Danlos syndrome classic type 1 IAGP D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:25741868|PMID:28492532 10048604 CV193889 NM_000093.5(COL5A1):c.2695G>A (p.Gly899Ser) variant DOID:9003323 Multifocal Fibromuscular Dysplasia IAGP D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: FIBROMUSCULAR DYSPLASIA, MULTIFOCAL PMID:25741868|PMID:28492532 10048605 CV193890 NM_000392.5(ABCC2):c.4527C>T (p.Asn1509=) variant DOID:12308 Dubin-Johnson syndrome IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Dubin-Johnson syndrome PMID:25741868|PMID:28492532 10048606 CV193891 NM_000392.5(ABCC2):c.4509-9T>C variant DOID:12308 Dubin-Johnson syndrome IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Dubin-Johnson syndrome PMID:28492532 10048607 CV193895 NM_201384.3(PLEC):c.5712C>T (p.Ser1904=) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy PMID:26467025|PMID:28492532 10048608 CV193917 NM_201384.3(PLEC):c.6162C>T (p.His2054=) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy PMID:25741868|PMID:26467025|PMID:28492532 10048609 CV193937 NM_001848.3(COL6A1):c.2220G>A (p.Pro740=) variant DOID:0050663 Bethlem myopathy IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Myopathy, benign congenital, with contractures PMID:25741868|PMID:28492532 10048609 CV193937 NM_001848.3(COL6A1):c.2220G>A (p.Pro740=) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:25741868|PMID:28492532 10048610 CV193940 NM_001854.4(COL11A1):c.2578T>A (p.Phe860Ile) variant DOID:0080672 fibrochondrogenesis 1 IAGP D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Fibrochondrogenesis 1 PMID:23967202|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30245029 10048610 CV193940 NM_001854.4(COL11A1):c.2578T>A (p.Phe860Ile) variant DOID:0080675 Stickler syndrome 2 IAGP D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Stickler syndrome type 2 PMID:23967202|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30245029 10048610 CV193940 NM_001854.4(COL11A1):c.2578T>A (p.Phe860Ile) variant DOID:65 connective tissue disease IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:23967202|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30245029 10048611 CV193949 NM_001365951.3(KIF1B):c.3645G>A (p.Pro1215=) variant DOID:0050539 Charcot-Marie-Tooth disease type 2 IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 PMID:25741868|PMID:28492532 10048611 CV193949 NM_001365951.3(KIF1B):c.3645G>A (p.Pro1215=) variant DOID:10595 Charcot-Marie-Tooth disease IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:25741868|PMID:28492532 10048611 CV193949 NM_001365951.3(KIF1B):c.3645G>A (p.Pro1215=) variant DOID:769 neuroblastoma IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Neuroblastoma PMID:25741868|PMID:28492532 10048612 CV193963 NM_138694.4(PKHD1):c.3686G>C (p.Trp1229Ser) variant DOID:0080212 polycystic kidney disease 4 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease 4 PMID:16876319|PMID:25741868|PMID:27225849|PMID:28492532 10048612 CV193963 NM_138694.4(PKHD1):c.3686G>C (p.Trp1229Ser) variant DOID:0110861 autosomal recessive polycystic kidney disease IAGP D RGD:8554872 20191210 ClinVar ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE, INFANTILE, TYPE I PMID:16876319|PMID:25741868|PMID:27225849|PMID:28492532 10048613 CV193964 NM_138694.4(PKHD1):c.4035C>A (p.Gly1345=) variant DOID:0080212 polycystic kidney disease 4 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease 4 PMID:25741868|PMID:28492532 10048613 CV193964 NM_138694.4(PKHD1):c.4035C>A (p.Gly1345=) variant DOID:0110861 autosomal recessive polycystic kidney disease IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease PMID:25741868|PMID:28492532 10048614 CV193971 NM_201384.3(PLEC):c.13575G>A (p.Ser4525=) variant DOID:0060736 epidermolysis bullosa simplex Ogna type IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Ogna type PMID:26467025|PMID:28492532 10048614 CV193971 NM_201384.3(PLEC):c.13575G>A (p.Ser4525=) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy PMID:26467025|PMID:28492532 10048614 CV193971 NM_201384.3(PLEC):c.13575G>A (p.Ser4525=) variant DOID:0110285 autosomal recessive limb-girdle muscular dystrophy type 2Q IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2Q PMID:26467025|PMID:28492532 10048614 CV193971 NM_201384.3(PLEC):c.13575G>A (p.Ser4525=) variant DOID:9001254 Epidermolysis Bullosa Simplex 5D with Nail Dystrophy IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy PMID:26467025|PMID:28492532 10048614 CV193971 NM_201384.3(PLEC):c.13575G>A (p.Ser4525=) variant DOID:9003881 Epidermolysis Bullosa Simplex 5C with Pyloric Atresia IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with pyloric atresia PMID:26467025|PMID:28492532 10048615 CV194022 NM_001130438.3(SPTAN1):c.4283C>G (p.Ala1428Gly) variant DOID:0080438 developmental and epileptic encephalopathy 5 IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 5 PMID:25741868|PMID:28492532|PMID:29358611|PMID:31515523 10048615 CV194022 NM_001130438.3(SPTAN1):c.4283C>G (p.Ala1428Gly) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:25741868|PMID:28492532|PMID:29358611|PMID:31515523 10048615 CV194022 NM_001130438.3(SPTAN1):c.4283C>G (p.Ala1428Gly) variant DOID:3329 benign epilepsy with centrotemporal spikes IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:25741868|PMID:28492532|PMID:29358611|PMID:31515523 10048615 CV194022 NM_001130438.3(SPTAN1):c.4283C>G (p.Ala1428Gly) variant DOID:630 genetic disease IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:29358611|PMID:31515523 10048616 CV194023 NM_001457.4(FLNB):c.5445C>T (p.Tyr1815=) variant DOID:0080096 myofibrillar myopathy 5 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: FLNB-Related Disorders PMID:28492532 10048618 CV194026 NM_001164508.2(NEB):c.3348C>T (p.Asn1116=) variant DOID:0110928 nemaline myopathy 2 IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 2 PMID:25741868|PMID:26467025|PMID:28492532 10048619 CV194031 NM_017780.4(CHD7):c.6995G>A (p.Trp2332Ter) variant DOID:0050834 CHARGE syndrome IAGP D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: CHARGE association PMID:16400610 10048621 CV194039 NM_138694.4(PKHD1):c.5325_5326del (p.Val1776fs) variant DOID:0110861 autosomal recessive polycystic kidney disease IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease PMID:19940839|PMID:28492532 10048622 CV194041 NM_000352.6(ABCC8):c.4160_4162del (p.Phe1387del) variant DOID:0050524 maturity-onset diabetes of the young IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:10447255|PMID:11226335|PMID:11999683|PMID:21716120|PMID:22031516|PMID:23275527|PMID:23345197|PMID:25741868|PMID:27065949|PMID:28492532|PMID:30753133|PMID:30873120|PMID:8923011|PMID:9618169|PMID:9648840 10048622 CV194041 NM_000352.6(ABCC8):c.4160_4162del (p.Phe1387del) variant DOID:0061174 transient neonatal diabetes mellitus 2 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Diabetes mellitus, transient neonatal, 2 PMID:10447255|PMID:11226335|PMID:11999683|PMID:21716120|PMID:22031516|PMID:23275527|PMID:23345197|PMID:25741868|PMID:27065949|PMID:28492532|PMID:30753133|PMID:30873120|PMID:8923011|PMID:9618169|PMID:9648840 10048622 CV194041 NM_000352.6(ABCC8):c.4160_4162del (p.Phe1387del) variant DOID:0070219 familial hyperinsulinemic hypoglycemia 1 IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 PMID:10447255|PMID:11226335|PMID:11999683|PMID:21716120|PMID:22031516|PMID:23275527|PMID:23345197|PMID:25741868|PMID:27065949|PMID:28492532|PMID:30753133|PMID:30873120|PMID:8923011|PMID:9618169|PMID:9648840 10048622 CV194041 NM_000352.6(ABCC8):c.4160_4162del (p.Phe1387del) variant DOID:0111099 maturity-onset diabetes of the young type 1 IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10447255|PMID:11226335|PMID:11999683|PMID:21716120|PMID:22031516|PMID:23275527|PMID:23345197|PMID:25741868|PMID:27065949|PMID:28492532|PMID:30753133|PMID:30873120|PMID:8923011|PMID:9618169|PMID:9648840 10048622 CV194041 NM_000352.6(ABCC8):c.4160_4162del (p.Phe1387del) variant DOID:0112262 leucine-sensitive hypoglycemia of infancy IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: LEUCINE-SENSITIVE HYPOGLYCEMIA OF INFANCY PMID:10447255|PMID:11226335|PMID:11999683|PMID:21716120|PMID:22031516|PMID:23275527|PMID:23345197|PMID:25741868|PMID:27065949|PMID:28492532|PMID:30753133|PMID:30873120|PMID:8923011|PMID:9618169|PMID:9648840 10048622 CV194041 NM_000352.6(ABCC8):c.4160_4162del (p.Phe1387del) variant DOID:13317 hyperinsulinemic hypoglycemia IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Persistent hyperinsulinemic hypoglycemia of infancy PMID:10447255|PMID:11226335|PMID:11999683|PMID:21716120|PMID:22031516|PMID:23275527|PMID:23345197|PMID:25741868|PMID:27065949|PMID:28492532|PMID:30753133|PMID:30873120|PMID:8923011|PMID:9618169|PMID:9648840 10048622 CV194041 NM_000352.6(ABCC8):c.4160_4162del (p.Phe1387del) variant DOID:2018 hyperinsulinism IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Hereditary hyperinsulinism PMID:10447255|PMID:11226335|PMID:11999683|PMID:21716120|PMID:22031516|PMID:23275527|PMID:23345197|PMID:25741868|PMID:27065949|PMID:28492532|PMID:30753133|PMID:30873120|PMID:8923011|PMID:9618169|PMID:9648840 10048622 CV194041 NM_000352.6(ABCC8):c.4160_4162del (p.Phe1387del) variant DOID:9002279 Permanent Neonatal Diabetes Mellitus 3 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Diabetes mellitus, permanent neonatal 3 PMID:10447255|PMID:11226335|PMID:11999683|PMID:21716120|PMID:22031516|PMID:23275527|PMID:23345197|PMID:25741868|PMID:27065949|PMID:28492532|PMID:30753133|PMID:30873120|PMID:8923011|PMID:9618169|PMID:9648840 10048622 CV194041 NM_000352.6(ABCC8):c.4160_4162del (p.Phe1387del) variant DOID:9006828 Congenital Hyperinsulinism IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Familial hyperinsulinism PMID:10447255|PMID:11226335|PMID:11999683|PMID:21716120|PMID:22031516|PMID:23275527|PMID:23345197|PMID:25741868|PMID:27065949|PMID:28492532|PMID:30753133|PMID:30873120|PMID:8923011|PMID:9618169|PMID:9648840 10048622 CV194041 NM_000352.6(ABCC8):c.4160_4162del (p.Phe1387del) variant DOID:9352 type 2 diabetes mellitus IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:10447255|PMID:11226335|PMID:11999683|PMID:21716120|PMID:22031516|PMID:23275527|PMID:23345197|PMID:25741868|PMID:27065949|PMID:28492532|PMID:30753133|PMID:30873120|PMID:8923011|PMID:9618169|PMID:9648840 10048623 CV194045 NM_000548.5(TSC2):c.4415del (p.Gly1472fs) variant DOID:0080325 tuberous sclerosis 2 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:10205261|PMID:17304050|PMID:28492532|PMID:29056246 10048624 CV194047 NM_001184.4(ATR):c.5739-7_5739-6del variant DOID:0070007 Seckel syndrome 1 IAGP D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Seckel syndrome 1 PMID:25741868|PMID:28492532 10048624 CV194047 NM_001184.4(ATR):c.5739-7_5739-6del variant DOID:9002856 Cutaneous Telangiectasia and Cancer Syndrome, Familial IAGP D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cutaneous telangiectasia and cancer syndrome, familial PMID:25741868|PMID:28492532 10048625 CV194048 NM_001184.4(ATR):c.5739-14_5739-9del variant DOID:0070007 Seckel syndrome 1 IAGP D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Seckel syndrome 1 PMID:25741868|PMID:28492532 10048625 CV194048 NM_001184.4(ATR):c.5739-14_5739-9del variant DOID:9002856 Cutaneous Telangiectasia and Cancer Syndrome, Familial IAGP D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cutaneous telangiectasia and cancer syndrome, familial PMID:25741868|PMID:28492532 10048626 CV194049 NM_001458.5(FLNC):c.5578C>T (p.Arg1860Cys) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:25741868|PMID:26467025|PMID:28492532 10048626 CV194049 NM_001458.5(FLNC):c.5578C>T (p.Arg1860Cys) variant DOID:0080096 myofibrillar myopathy 5 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy, filamin C-related PMID:25741868|PMID:26467025|PMID:28492532 10048626 CV194049 NM_001458.5(FLNC):c.5578C>T (p.Arg1860Cys) variant DOID:0110327 hypertrophic cardiomyopathy 26 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 26 PMID:25741868|PMID:26467025|PMID:28492532 10048626 CV194049 NM_001458.5(FLNC):c.5578C>T (p.Arg1860Cys) variant DOID:0111190 distal myopathy 4 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Distal myopathy with posterior leg and anterior hand involvement PMID:25741868|PMID:26467025|PMID:28492532 10048626 CV194049 NM_001458.5(FLNC):c.5578C>T (p.Arg1860Cys) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant PMID:25741868|PMID:26467025|PMID:28492532 10048629 CV194064 NM_005045.4(RELN):c.4937-4del variant DOID:0060902 Norman-Roberts syndrome IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Norman-Roberts syndrome PMID:28492532 10048630 CV194075 NM_017617.5(NOTCH1):c.6777T>C (p.Gly2259=) variant DOID:0080333 aortic valve disease 1 IAGP D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Aortic valve disease 1 PMID:15472075|PMID:16614245|PMID:19245433|PMID:19635999|PMID:21670202|PMID:22077063|PMID:22210878|PMID:22858860|PMID:23086750|PMID:23734977|PMID:24943832|PMID:25741868|PMID:26837699|PMID:28492532 10048630 CV194075 NM_017617.5(NOTCH1):c.6777T>C (p.Gly2259=) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:15472075|PMID:16614245|PMID:19245433|PMID:19635999|PMID:21670202|PMID:22077063|PMID:22210878|PMID:22858860|PMID:23086750|PMID:23734977|PMID:24943832|PMID:25741868|PMID:26837699|PMID:28492532 10048630 CV194075 NM_017617.5(NOTCH1):c.6777T>C (p.Gly2259=) variant DOID:9005781 Adams-Oliver Syndrome 5 IAGP D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:15472075|PMID:16614245|PMID:19245433|PMID:19635999|PMID:21670202|PMID:22077063|PMID:22210878|PMID:22858860|PMID:23086750|PMID:23734977|PMID:24943832|PMID:25741868|PMID:26837699|PMID:28492532 10048631 CV194076 NM_017780.4(CHD7):c.7209G>A (p.Arg2403=) variant DOID:0050834 CHARGE syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CHARGE association PMID:25741868|PMID:26467025|PMID:28492532 10048631 CV194076 NM_017780.4(CHD7):c.7209G>A (p.Arg2403=) variant DOID:0090084 hypogonadotropic hypogonadism 5 with or without anosmia IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 5 with or without anosmia PMID:25741868|PMID:26467025|PMID:28492532 10048631 CV194076 NM_017780.4(CHD7):c.7209G>A (p.Arg2403=) variant DOID:630 genetic disease IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 10048632 CV194083 NM_001384732.1(CPLANE1):c.6957A>G (p.Gln2319=) variant DOID:0110986 Joubert Syndrome 17 IAGP D RGD:8554872 20180508 ClinVar ClinVar Annotator: match by term: Joubert syndrome 17 PMID:25741868|PMID:28492532 10048635 CV194094 NM_206933.4(USH2A):c.6601C>T (p.Gln2201Ter) variant DOID:0110360 retinitis pigmentosa 39 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 39 PMID:10729113|PMID:10909849|PMID:20507924|PMID:25425308|PMID:25649381|PMID:25741868|PMID:28492532|PMID:29953849 10048635 CV194094 NM_206933.4(USH2A):c.6601C>T (p.Gln2201Ter) variant DOID:0110838 Usher syndrome type 2A IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2A PMID:10729113|PMID:10909849|PMID:20507924|PMID:25425308|PMID:25649381|PMID:25741868|PMID:28492532|PMID:29953849 10048635 CV194094 NM_206933.4(USH2A):c.6601C>T (p.Gln2201Ter) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10729113|PMID:10909849|PMID:20507924|PMID:25425308|PMID:25649381|PMID:25741868|PMID:28492532|PMID:29953849 10048637 CV194097 NM_000393.5(COL5A2):c.2376A>C (p.Gly792=) variant DOID:0080726 Ehlers-Danlos syndrome classic type 2 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: COL5A2-related condition PMID:25741868|PMID:28492532 10048637 CV194097 NM_000393.5(COL5A2):c.2376A>C (p.Gly792=) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10048637 CV194097 NM_000393.5(COL5A2):c.2376A>C (p.Gly792=) variant DOID:14720 Ehlers-Danlos syndrome classic type 1 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1 PMID:25741868|PMID:28492532 10048641 CV194107 NM_001457.4(FLNB):c.5769C>T (p.Ala1923=) variant DOID:14764 Larsen syndrome IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: FLNB-Related Spectrum Disorders PMID:25741868|PMID:28492532 10048642 CV194116 NM_003482.4(KMT2D):c.10233C>T (p.Asp3411=) variant DOID:0060473 Kabuki syndrome IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Kabuki syndrome PMID:25741868|PMID:28492532 10048642 CV194116 NM_003482.4(KMT2D):c.10233C>T (p.Asp3411=) variant DOID:9001255 Kabuki Syndrome 1 IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868|PMID:28492532 10048644 CV194123 NM_172364.5(CACNA2D4):c.3065C>T (p.Pro1022Leu) variant DOID:0081023 retinal cone dystrophy 4 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Retinal cone dystrophy 4 PMID:25741868|PMID:28492532 10048645 CV194127 NM_000719.7(CACNA1C):c.4418C>G (p.Ala1473Gly) variant DOID:0060173 Timothy syndrome IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Timothy syndrome PMID:22106044 10048648 CV194154 NM_000426.4(LAMA2):c.5260del (p.Lys1753_Val1754insTer) variant DOID:0061132 autosomal recessive limb-girdle muscular dystrophy type 23 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, autosomal recessive 23 PMID:18700894|PMID:25663498|PMID:25741868|PMID:28492532|PMID:32904964 10048648 CV194154 NM_000426.4(LAMA2):c.5260del (p.Lys1753_Val1754insTer) variant DOID:0110636 congenital merosin-deficient muscular dystrophy 1A IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Merosin deficient congenital muscular dystrophy PMID:18700894|PMID:25663498|PMID:25741868|PMID:28492532|PMID:32904964 10048649 CV194158 NM_001377.3(DYNC2H1):c.5846del (p.Glu1949fs) variant DOID:0050592 asphyxiating thoracic dystrophy IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:23339108|PMID:28492532|PMID:32753734 10048650 CV194161 NM_001458.5(FLNC):c.6005-9T>C variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10048650 CV194161 NM_001458.5(FLNC):c.6005-9T>C variant DOID:0080096 myofibrillar myopathy 5 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy, filamin C-related PMID:25741868|PMID:28492532 10048652 CV194171 NM_005529.7(HSPG2):c.4627-3del variant DOID:0090005 Schwartz-Jampel syndrome 1 IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Schwartz Jampel syndrome type 1 PMID:26467025|PMID:28492532 10048652 CV194171 NM_005529.7(HSPG2):c.4627-3del variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532 10048652 CV194171 NM_005529.7(HSPG2):c.4627-3del variant DOID:9005084 Kniest Like Dysplasia Lethal IAGP D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Lethal Kniest-like syndrome PMID:26467025|PMID:28492532 10048654 CV194182 NM_000069.3(CACNA1S):c.4615C>T (p.Arg1539Cys) variant DOID:0081350 congenital myopathy 18 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Congenital myopathy 18 PMID:25741868|PMID:26467025|PMID:28492532 10048654 CV194182 NM_000069.3(CACNA1S):c.4615C>T (p.Arg1539Cys) variant DOID:8545 malignant hyperthermia IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5 PMID:25741868|PMID:26467025|PMID:28492532 10048654 CV194182 NM_000069.3(CACNA1S):c.4615C>T (p.Arg1539Cys) variant DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis 1 PMID:25741868|PMID:26467025|PMID:28492532 10048654 CV194182 NM_000069.3(CACNA1S):c.4615C>T (p.Arg1539Cys) variant DOID:9006927 Thyrotoxic Periodic Paralysis IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Thyrotoxic periodic paralysis, susceptibility to, 1 PMID:25741868|PMID:26467025|PMID:28492532 10048656 CV194185 NM_000426.4(LAMA2):c.5562+5G>C variant DOID:0061132 autosomal recessive limb-girdle muscular dystrophy type 23 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, autosomal recessive 23 PMID:10611118|PMID:12552556|PMID:17576681|PMID:20207543|PMID:25525159|PMID:25741868|PMID:28492532|PMID:28688748|PMID:9536098 10048656 CV194185 NM_000426.4(LAMA2):c.5562+5G>C variant DOID:0110636 congenital merosin-deficient muscular dystrophy 1A IAGP D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Merosin deficient congenital muscular dystrophy PMID:10611118|PMID:12552556|PMID:17576681|PMID:20207543|PMID:25525159|PMID:25741868|PMID:28492532|PMID:28688748|PMID:9536098 10048657 CV194190 NM_001458.5(FLNC):c.6309C>T (p.Thr2103=) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:25741868|PMID:28492532 10048657 CV194190 NM_001458.5(FLNC):c.6309C>T (p.Thr2103=) variant DOID:0080096 myofibrillar myopathy 5 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 5 PMID:25741868|PMID:28492532 10048657 CV194190 NM_001458.5(FLNC):c.6309C>T (p.Thr2103=) variant DOID:0110327 hypertrophic cardiomyopathy 26 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 26 PMID:25741868|PMID:28492532 10048657 CV194190 NM_001458.5(FLNC):c.6309C>T (p.Thr2103=) variant DOID:0111190 distal myopathy 4 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Distal myopathy with posterior leg and anterior hand involvement PMID:25741868|PMID:28492532 10048657 CV194190 NM_001458.5(FLNC):c.6309C>T (p.Thr2103=) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant PMID:25741868|PMID:28492532 10048658 CV194193 NM_004369.4(COL6A3):c.8346G>A (p.Glu2782=) variant DOID:0050663 Bethlem myopathy IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Collagen VI-related myopathy PMID:25741868|PMID:28492532 10048658 CV194193 NM_004369.4(COL6A3):c.8346G>A (p.Glu2782=) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:25741868|PMID:28492532 10048660 CV194204 NM_025074.7(FRAS1):c.5046C>G (p.Asp1682Glu) variant DOID:0090001 Fraser syndrome IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Cryptophthalmos with other malformations PMID:23532946|PMID:25741868|PMID:28492532 10048660 CV194204 NM_025074.7(FRAS1):c.5046C>G (p.Asp1682Glu) variant DOID:0111405 Fraser syndrome 1 IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Cryptophthalmos syndrome PMID:23532946|PMID:25741868|PMID:28492532 10048661 CV194205 NM_025114.4(CEP290):c.5182G>T (p.Glu1728Ter) variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16909394|PMID:17345604|PMID:20690115|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25525159|PMID:25741868|PMID:28492532|PMID:28497568|PMID:28559085|PMID:29146704|PMID:31964843|PMID:35627109 10048661 CV194205 NM_025114.4(CEP290):c.5182G>T (p.Glu1728Ter) variant DOID:0070118 Meckel syndrome 4 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 4 PMID:16909394|PMID:17345604|PMID:20690115|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25525159|PMID:25741868|PMID:28492532|PMID:28497568|PMID:28559085|PMID:29146704|PMID:31964843|PMID:35627109 10048661 CV194205 NM_025114.4(CEP290):c.5182G>T (p.Glu1728Ter) variant DOID:0110136 Bardet-Biedl syndrome 14 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 14 PMID:16909394|PMID:17345604|PMID:20690115|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25525159|PMID:25741868|PMID:28492532|PMID:28497568|PMID:28559085|PMID:29146704|PMID:31964843|PMID:35627109 10048661 CV194205 NM_025114.4(CEP290):c.5182G>T (p.Glu1728Ter) variant DOID:0110291 Leber congenital amaurosis 10 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 10 PMID:16909394|PMID:17345604|PMID:20690115|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25525159|PMID:25741868|PMID:28492532|PMID:28497568|PMID:28559085|PMID:29146704|PMID:31964843|PMID:35627109 10048661 CV194205 NM_025114.4(CEP290):c.5182G>T (p.Glu1728Ter) variant DOID:14791 Leber congenital amaurosis IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:16909394|PMID:17345604|PMID:20690115|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25525159|PMID:25741868|PMID:28492532|PMID:28497568|PMID:28559085|PMID:29146704|PMID:31964843|PMID:35627109 10048661 CV194205 NM_025114.4(CEP290):c.5182G>T (p.Glu1728Ter) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16909394|PMID:17345604|PMID:20690115|PMID:21068128|PMID:21866095|PMID:23559409|PMID:25525159|PMID:25741868|PMID:28492532|PMID:28497568|PMID:28559085|PMID:29146704|PMID:31964843|PMID:35627109 10048662 CV194208 NM_032119.4(ADGRV1):c.8730+21dup variant DOID:0110839 Usher syndrome type 2C IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2C PMID:25741868|PMID:28492532 10048663 CV194210 NM_138694.4(PKHD1):c.6245C>T (p.Thr2082Ile) variant DOID:0080212 polycystic kidney disease 4 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease 4 PMID:25741868|PMID:28492532|PMID:31056860 10048663 CV194210 NM_138694.4(PKHD1):c.6245C>T (p.Thr2082Ile) variant DOID:0110861 autosomal recessive polycystic kidney disease IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease PMID:25741868|PMID:28492532|PMID:31056860 10048664 CV194212 NM_172364.5(CACNA2D4):c.3330C>T (p.Gly1110=) variant DOID:0081023 retinal cone dystrophy 4 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Retinal cone dystrophy 4 PMID:25741868|PMID:28492532 10048665 CV194213 NM_173630.4(RTTN):c.5143A>G (p.Asn1715Asp) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10048665 CV194213 NM_173630.4(RTTN):c.5143A>G (p.Asn1715Asp) variant DOID:9003865 Microcephaly, Short Stature, and Polymicrogyria with or without Seizures IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: RTTN-related condition PMID:25741868|PMID:28492532 10048666 CV194218 NM_000540.3(RYR1):c.6498C>T (p.Leu2166=) variant DOID:0080102 congenital myopathy 4A IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion PMID:25741868|PMID:28492532 10048666 CV194218 NM_000540.3(RYR1):c.6498C>T (p.Leu2166=) variant DOID:0080990 King Denborough syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: King syndrome PMID:25741868|PMID:28492532 10048666 CV194218 NM_000540.3(RYR1):c.6498C>T (p.Leu2166=) variant DOID:0080991 congenital myopathy 1B IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Multiminicore myopathy PMID:25741868|PMID:28492532 10048666 CV194218 NM_000540.3(RYR1):c.6498C>T (p.Leu2166=) variant DOID:3529 congenital myopathy 1A IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Myopathy, Central Core PMID:25741868|PMID:28492532 10048666 CV194218 NM_000540.3(RYR1):c.6498C>T (p.Leu2166=) variant DOID:422 congenital structural myopathy IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy PMID:25741868|PMID:28492532 10048666 CV194218 NM_000540.3(RYR1):c.6498C>T (p.Leu2166=) variant DOID:8545 malignant hyperthermia IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Malignant hyperthermia susceptibility PMID:25741868|PMID:28492532 10048666 CV194218 NM_000540.3(RYR1):c.6498C>T (p.Leu2166=) variant DOID:9005001 Congenital Neuromuscular Disease, with Uniform Type 1 Fiber IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Neuromuscular disease, congenital, with uniform type 1 fiber PMID:25741868|PMID:28492532 10048666 CV194218 NM_000540.3(RYR1):c.6498C>T (p.Leu2166=) variant DOID:9005320 Malignant Fever IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Pharmacogenic myopathy PMID:25741868|PMID:28492532 10048667 CV194225 NM_001458.5(FLNC):c.6459C>T (p.Thr2153=) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:25741868|PMID:28492532 10048667 CV194225 NM_001458.5(FLNC):c.6459C>T (p.Thr2153=) variant DOID:0080096 myofibrillar myopathy 5 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy, filamin C-related PMID:25741868|PMID:28492532 10048667 CV194225 NM_001458.5(FLNC):c.6459C>T (p.Thr2153=) variant DOID:0110327 hypertrophic cardiomyopathy 26 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 26 PMID:25741868|PMID:28492532 10048667 CV194225 NM_001458.5(FLNC):c.6459C>T (p.Thr2153=) variant DOID:0111190 distal myopathy 4 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Distal myopathy with posterior leg and anterior hand involvement PMID:25741868|PMID:28492532 10048667 CV194225 NM_001458.5(FLNC):c.6459C>T (p.Thr2153=) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant PMID:25741868|PMID:28492532 10048669 CV194231 NM_003482.4(KMT2D):c.11957C>G (p.Ser3986Cys) variant DOID:0060473 Kabuki syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Kabuki syndrome PMID:28492532 10048673 CV194240 NM_004369.4(COL6A3):c.8465-7del variant DOID:0050663 Bethlem myopathy IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Myopathy, benign congenital, with contractures PMID:28492532 10048673 CV194240 NM_004369.4(COL6A3):c.8465-7del variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:28492532 10048674 CV194244 NM_025074.7(FRAS1):c.5366+13T>G variant DOID:0111405 Fraser syndrome 1 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Fraser syndrome 1 PMID:25741868|PMID:28492532 10048675 CV194246 NM_025114.4(CEP290):c.5322C>T (p.Leu1774=) variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:25741868|PMID:26467025|PMID:28492532 10048675 CV194246 NM_025114.4(CEP290):c.5322C>T (p.Leu1774=) variant DOID:0070118 Meckel syndrome 4 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 4 PMID:25741868|PMID:26467025|PMID:28492532 10048675 CV194246 NM_025114.4(CEP290):c.5322C>T (p.Leu1774=) variant DOID:0110136 Bardet-Biedl syndrome 14 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 14 PMID:25741868|PMID:26467025|PMID:28492532 10048675 CV194246 NM_025114.4(CEP290):c.5322C>T (p.Leu1774=) variant DOID:0110291 Leber congenital amaurosis 10 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 10 PMID:25741868|PMID:26467025|PMID:28492532 10048675 CV194246 NM_025114.4(CEP290):c.5322C>T (p.Leu1774=) variant DOID:0111000 Joubert syndrome 5 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Joubert syndrome 5 PMID:25741868|PMID:26467025|PMID:28492532 10048675 CV194246 NM_025114.4(CEP290):c.5322C>T (p.Leu1774=) variant DOID:14791 Leber congenital amaurosis IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:25741868|PMID:26467025|PMID:28492532 10048675 CV194246 NM_025114.4(CEP290):c.5322C>T (p.Leu1774=) variant DOID:630 genetic disease IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 10048675 CV194246 NM_025114.4(CEP290):c.5322C>T (p.Leu1774=) variant DOID:9008709 Senior-Loken Syndrome 6 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 6 PMID:25741868|PMID:26467025|PMID:28492532 10048676 CV194253 NM_000017.4(ACADS):c.423G>A (p.Thr141=) variant DOID:0080154 short chain acyl-CoA dehydrogenase deficiency IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase PMID:28492532 10048677 CV194257 NM_000033.4(ABCD1):c.1288C>T (p.Gln430Ter) variant DOID:10588 adrenoleukodystrophy IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:11748843|PMID:25741868|PMID:28492532 10048678 CV194259 NM_054012.4(ASS1):c.106-10T>G variant DOID:0070340 classic citrullinemia IAGP D RGD:8554872 20200303 ClinVar ClinVar Annotator: match by term: Citrullinemia type I PMID:25741868|PMID:28492532 10048678 CV194259 NM_054012.4(ASS1):c.106-10T>G variant DOID:9273 citrullinemia IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Citrullinemia PMID:25741868|PMID:28492532 10048679 CV194260 NM_000059.4(BRCA2):c.425G>A (p.Ser142Asn) variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:17576681|PMID:21638052|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29446198|PMID:30927264|PMID:31125106|PMID:31131967|PMID:32398771|PMID:32782288|PMID:32853339|PMID:33469799|PMID:33471991|PMID:9536098 10048679 CV194260 NM_000059.4(BRCA2):c.425G>A (p.Ser142Asn) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17576681|PMID:21638052|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29446198|PMID:30927264|PMID:31125106|PMID:31131967|PMID:32398771|PMID:32782288|PMID:32853339|PMID:33469799|PMID:33471991|PMID:9536098 10048679 CV194260 NM_000059.4(BRCA2):c.425G>A (p.Ser142Asn) variant DOID:9008952 Breast Cancer, Familial IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:17576681|PMID:21638052|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29446198|PMID:30927264|PMID:31125106|PMID:31131967|PMID:32398771|PMID:32782288|PMID:32853339|PMID:33469799|PMID:33471991|PMID:9536098 10048680 CV194265 NM_000098.3(CPT2):c.511C>T (p.Leu171=) variant DOID:0060235 carnitine palmitoyltransferase II deficiency IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency PMID:25741868|PMID:26467025|PMID:28492532 10048680 CV194265 NM_000098.3(CPT2):c.511C>T (p.Leu171=) variant DOID:9001501 Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, lethal neonatal PMID:25741868|PMID:26467025|PMID:28492532 10048680 CV194265 NM_000098.3(CPT2):c.511C>T (p.Leu171=) variant DOID:9007623 Late-Onset Carnitine Palmitoyltransferase II Deficiency IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced PMID:25741868|PMID:26467025|PMID:28492532 10048680 CV194265 NM_000098.3(CPT2):c.511C>T (p.Leu171=) variant DOID:9007668 Carnitine Palmitoyltransferase II Deficiency, Infantile IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, infantile PMID:25741868|PMID:26467025|PMID:28492532 10048680 CV194265 NM_000098.3(CPT2):c.511C>T (p.Leu171=) variant DOID:936 brain disease IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced, susceptibility to, 4 PMID:25741868|PMID:26467025|PMID:28492532 10048681 CV194271 NM_000153.4(GALC):c.430del (p.Ile144fs) variant DOID:10587 Krabbe disease IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency PMID:16607461|PMID:25741868|PMID:26795590|PMID:28492532|PMID:30089515|PMID:30777126|PMID:7437911|PMID:9272171|PMID:9338580 10048682 CV194277 NM_000180.4(GUCY2D):c.1371C>T (p.Cys457=) variant DOID:0110078 Leber congenital amaurosis 1 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: AMAUROSIS CONGENITA OF LEBER I PMID:18682808|PMID:25741868|PMID:28492532 10048682 CV194277 NM_000180.4(GUCY2D):c.1371C>T (p.Cys457=) variant DOID:0111011 cone-rod dystrophy 6 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Retinal cone dystrophy 2 PMID:18682808|PMID:25741868|PMID:28492532 10048682 CV194277 NM_000180.4(GUCY2D):c.1371C>T (p.Cys457=) variant DOID:14791 Leber congenital amaurosis IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Leber's disease PMID:18682808|PMID:25741868|PMID:28492532 10048682 CV194277 NM_000180.4(GUCY2D):c.1371C>T (p.Cys457=) variant DOID:9004519 Congenital Stationary Night Blindness 1I IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1I PMID:18682808|PMID:25741868|PMID:28492532 10048682 CV194277 NM_000180.4(GUCY2D):c.1371C>T (p.Cys457=) variant DOID:980 choroidal sclerosis IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Choroidal dystrophy, central areolar, 1 PMID:18682808|PMID:25741868|PMID:28492532 10048684 CV194285 NM_001386140.1(MTTP):c.285G>C (p.Gln95His) variant DOID:0111062 familial hypobetalipoproteinemia 1 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Apolipoprotein B deficiency PMID:25741868|PMID:28492532 10048684 CV194285 NM_001386140.1(MTTP):c.285G>C (p.Gln95His) variant DOID:1386 abetalipoproteinemia IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Betalipoprotein deficiency disease PMID:25741868|PMID:28492532 10048684 CV194285 NM_001386140.1(MTTP):c.285G>C (p.Gln95His) variant DOID:9006098 Abetalipoproteinemia Neuropathy IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Abetalipoproteinemia neuropathy PMID:25741868|PMID:28492532 10048685 CV194286 NM_000277.3(PAH):c.357del (p.Trp120fs) variant DOID:9281 phenylketonuria IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Phenylketonuria PMID:1301187|PMID:24130151|PMID:25741868|PMID:28492532|PMID:9634518 10048686 CV194287 NM_000282.4(PCCA):c.232-1G>A variant DOID:14701 propionic acidemia IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:15464417|PMID:16199547|PMID:28492532 10048687 CV194294 NM_000326.5(RLBP1):c.29T>A (p.Met10Lys) variant DOID:0111015 Newfoundland cone-rod dystrophy IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Newfoundland rod-cone dystrophy PMID:28492532 10048687 CV194294 NM_000326.5(RLBP1):c.29T>A (p.Met10Lys) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive PMID:28492532 10048687 CV194294 NM_000326.5(RLBP1):c.29T>A (p.Met10Lys) variant DOID:11105 fundus albipunctatus IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Pigmentary retinal dystrophy PMID:28492532 10048689 CV194306 NM_000454.5(SOD1):c.341T>C (p.Ile114Thr) variant DOID:0060193 amyotrophic lateral sclerosis type 1 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL PMID:10400992|PMID:10593307|PMID:10732812|PMID:12165567|PMID:12358759|PMID:1259395|PMID:15056757|PMID:15208263|PMID:16291929|PMID:16423367|PMID:17394531|PMID:17543992|PMID:18301754|PMID:19259395|PMID:19483195|PMID:20184521|PMID:21549128|PMID:23286750|PMID:23726301|PMID:23773010|PMID:23873540|PMID:24439480|PMID:2517465|PMID:25741868|PMID:26362407|PMID:26467025|PMID:28089114|PMID:28105640|PMID:28291249|PMID:28430856|PMID:28492532|PMID:30637102|PMID:32789025|PMID:34721532|PMID:39825153|PMID:7673954|PMID:7997024|PMID:8069312|PMID:8446170|PMID:8528216|PMID:8572658 10048689 CV194306 NM_000454.5(SOD1):c.341T>C (p.Ile114Thr) variant DOID:231 motor neuron disease IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Motor neuron disease PMID:10400992|PMID:10593307|PMID:10732812|PMID:12165567|PMID:12358759|PMID:1259395|PMID:15056757|PMID:15208263|PMID:16291929|PMID:16423367|PMID:17394531|PMID:17543992|PMID:18301754|PMID:19259395|PMID:19483195|PMID:20184521|PMID:21549128|PMID:23286750|PMID:23726301|PMID:23773010|PMID:23873540|PMID:24439480|PMID:2517465|PMID:25741868|PMID:26362407|PMID:26467025|PMID:28089114|PMID:28105640|PMID:28291249|PMID:28430856|PMID:28492532|PMID:30637102|PMID:32789025|PMID:34721532|PMID:39825153|PMID:7673954|PMID:7997024|PMID:8069312|PMID:8446170|PMID:8528216|PMID:8572658 10048689 CV194306 NM_000454.5(SOD1):c.341T>C (p.Ile114Thr) variant DOID:9000578 SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Spastic tetraplegia and axial hypotonia, progressive PMID:10400992|PMID:10593307|PMID:10732812|PMID:12165567|PMID:12358759|PMID:1259395|PMID:15056757|PMID:15208263|PMID:16291929|PMID:16423367|PMID:17394531|PMID:17543992|PMID:18301754|PMID:19259395|PMID:19483195|PMID:20184521|PMID:21549128|PMID:23286750|PMID:23726301|PMID:23773010|PMID:23873540|PMID:24439480|PMID:2517465|PMID:25741868|PMID:26362407|PMID:26467025|PMID:28089114|PMID:28105640|PMID:28291249|PMID:28430856|PMID:28492532|PMID:30637102|PMID:32789025|PMID:34721532|PMID:39825153|PMID:7673954|PMID:7997024|PMID:8069312|PMID:8446170|PMID:8528216|PMID:8572658 10048690 CV194310 NM_000512.5(GALNS):c.421T>A (p.Trp141Arg) variant DOID:0111391 mucopolysaccharidosis IVA IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A PMID:22940367|PMID:24411403|PMID:24726177|PMID:25741868|PMID:28492532|PMID:30980944|PMID:33752727|PMID:34387910|PMID:36964972|PMID:9298823 10048691 CV194312 NM_000515.5(GH1):c.406G>A (p.Val136Ile) variant DOID:0060870 isolated growth hormone deficiency IAGP D RGD:8554872 20200714 ClinVar ClinVar Annotator: match by term: Growth hormone deficiency PMID:12655557|PMID:16741161|PMID:25741868|PMID:28492532 10048692 CV194315 NM_000531.6(OTC):c.299-8del variant DOID:9271 ornithine carbamoyltransferase deficiency IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:28492532 10048695 CV194324 NM_000702.4(ATP1A2):c.381+16C>T variant DOID:0060178 familial hemiplegic migraine IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Familial hemiplegic migraine PMID:25741868|PMID:28492532 10048695 CV194324 NM_000702.4(ATP1A2):c.381+16C>T variant DOID:0070384 developmental and epileptic encephalopathy 98 IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 98 PMID:25741868|PMID:28492532 10048695 CV194324 NM_000702.4(ATP1A2):c.381+16C>T variant DOID:0111182 familial hemiplegic migraine 2 IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Migraine, familial hemiplegic, 2 PMID:25741868|PMID:28492532 10048695 CV194324 NM_000702.4(ATP1A2):c.381+16C>T variant DOID:9001804 FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES PMID:25741868|PMID:28492532 10048695 CV194324 NM_000702.4(ATP1A2):c.381+16C>T variant DOID:9009197 Alternating Hemiplegia of Childhood 1 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Alternating hemiplegia of childhood 1 PMID:25741868|PMID:28492532 10048696 CV194329 NM_007325.5(GRIA3):c.646C>T (p.Arg216Ter) variant DOID:0060823 syndromic X-linked intellectual disability 94 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 94 PMID:25741868 10048697 CV194332 NM_001010892.3(RSPH4A):c.1731A>G (p.Lys577=) variant DOID:0110602 primary ciliary dyskinesia 11 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 11 PMID:28492532 10048697 CV194332 NM_001010892.3(RSPH4A):c.1731A>G (p.Lys577=) variant DOID:9562 primary ciliary dyskinesia IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 10048698 CV194335 NM_001012720.2(RGR):c.459C>T (p.Tyr153=) variant DOID:0110394 retinitis pigmentosa 44 IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 44 PMID:25741868|PMID:28492532 10048698 CV194335 NM_001012720.2(RGR):c.459C>T (p.Tyr153=) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532 10048698 CV194335 NM_001012720.2(RGR):c.459C>T (p.Tyr153=) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532 10048699 CV194337 NM_001044385.3(TMEM237):c.136+8G>A variant DOID:0110983 Joubert syndrome 14 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: TMEM237-related condition PMID:28492532 10048704 CV194345 NM_005476.7(GNE):c.736C>T (p.Arg246Trp) variant DOID:0080718 GNE myopathy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: GNE myopathy PMID:12409274|PMID:15987957|PMID:19917666|PMID:20346669|PMID:21307865|PMID:22507750|PMID:24027297|PMID:24136589|PMID:24796702|PMID:25741868|PMID:26231298|PMID:28492532|PMID:29305133 10048705 CV194347 NM_001142800.2(EYS):c.490C>T (p.Arg164Ter) variant DOID:0110384 retinitis pigmentosa 25 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 25 PMID:18836446|PMID:20333770|PMID:22581970|PMID:25741868|PMID:25753737|PMID:28041643|PMID:28492532|PMID:28704921|PMID:31964843|PMID:33749171|PMID:35754085|PMID:36819107 10048705 CV194347 NM_001142800.2(EYS):c.490C>T (p.Arg164Ter) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:18836446|PMID:20333770|PMID:22581970|PMID:25741868|PMID:25753737|PMID:28041643|PMID:28492532|PMID:28704921|PMID:31964843|PMID:33749171|PMID:35754085|PMID:36819107 10048705 CV194347 NM_001142800.2(EYS):c.490C>T (p.Arg164Ter) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:18836446|PMID:20333770|PMID:22581970|PMID:25741868|PMID:25753737|PMID:28041643|PMID:28492532|PMID:28704921|PMID:31964843|PMID:33749171|PMID:35754085|PMID:36819107 10048706 CV194348 NM_001165963.4(SCN1A):c.602+1G>A variant DOID:0070379 developmental and epileptic encephalopathy 6B IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 6B, non-Dravet PMID:12566275|PMID:16199547|PMID:17347258|PMID:18930999|PMID:20522430|PMID:22071555|PMID:22409937|PMID:23934111|PMID:25741868|PMID:28148630|PMID:28492532|PMID:29190809|PMID:32581362 10048706 CV194348 NM_001165963.4(SCN1A):c.602+1G>A variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:12566275|PMID:16199547|PMID:17347258|PMID:18930999|PMID:20522430|PMID:22071555|PMID:22409937|PMID:23934111|PMID:25741868|PMID:28148630|PMID:28492532|PMID:29190809|PMID:32581362 10048706 CV194348 NM_001165963.4(SCN1A):c.602+1G>A variant DOID:0111183 familial hemiplegic migraine 3 IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Migraine, familial hemiplegic, 3 PMID:12566275|PMID:16199547|PMID:17347258|PMID:18930999|PMID:20522430|PMID:22071555|PMID:22409937|PMID:23934111|PMID:25741868|PMID:28148630|PMID:28492532|PMID:29190809|PMID:32581362 10048706 CV194348 NM_001165963.4(SCN1A):c.602+1G>A variant DOID:0111294 generalized epilepsy with febrile seizures plus 2 IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 2 PMID:12566275|PMID:16199547|PMID:17347258|PMID:18930999|PMID:20522430|PMID:22071555|PMID:22409937|PMID:23934111|PMID:25741868|PMID:28148630|PMID:28492532|PMID:29190809|PMID:32581362 10048706 CV194348 NM_001165963.4(SCN1A):c.602+1G>A variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:12566275|PMID:16199547|PMID:17347258|PMID:18930999|PMID:20522430|PMID:22071555|PMID:22409937|PMID:23934111|PMID:25741868|PMID:28148630|PMID:28492532|PMID:29190809|PMID:32581362 10048706 CV194348 NM_001165963.4(SCN1A):c.602+1G>A variant DOID:0112212 developmental and epileptic encephalopathy 76 IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL DELAY, EPILEPTIC ENCEPHALOPATHY, CEREBRAL ATROPHY, AND ABNORMAL MYELINATION PMID:12566275|PMID:16199547|PMID:17347258|PMID:18930999|PMID:20522430|PMID:22071555|PMID:22409937|PMID:23934111|PMID:25741868|PMID:28148630|PMID:28492532|PMID:29190809|PMID:32581362 10048706 CV194348 NM_001165963.4(SCN1A):c.602+1G>A variant DOID:12849 autistic disorder IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Autistic disorder PMID:12566275|PMID:16199547|PMID:17347258|PMID:18930999|PMID:20522430|PMID:22071555|PMID:22409937|PMID:23934111|PMID:25741868|PMID:28148630|PMID:28492532|PMID:29190809|PMID:32581362 10048706 CV194348 NM_001165963.4(SCN1A):c.602+1G>A variant DOID:1826 epilepsy IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Seizure PMID:12566275|PMID:16199547|PMID:17347258|PMID:18930999|PMID:20522430|PMID:22071555|PMID:22409937|PMID:23934111|PMID:25741868|PMID:28148630|PMID:28492532|PMID:29190809|PMID:32581362 10048706 CV194348 NM_001165963.4(SCN1A):c.602+1G>A variant DOID:2234 focal epilepsy IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Focal seizures with impairment of consciousness or awareness PMID:12566275|PMID:16199547|PMID:17347258|PMID:18930999|PMID:20522430|PMID:22071555|PMID:22409937|PMID:23934111|PMID:25741868|PMID:28148630|PMID:28492532|PMID:29190809|PMID:32581362 10048706 CV194348 NM_001165963.4(SCN1A):c.602+1G>A variant DOID:308 early myoclonic encephalopathy IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe PMID:12566275|PMID:16199547|PMID:17347258|PMID:18930999|PMID:20522430|PMID:22071555|PMID:22409937|PMID:23934111|PMID:25741868|PMID:28148630|PMID:28492532|PMID:29190809|PMID:32581362 10048706 CV194348 NM_001165963.4(SCN1A):c.602+1G>A variant DOID:9008086 Developmental Disabilities IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:12566275|PMID:16199547|PMID:17347258|PMID:18930999|PMID:20522430|PMID:22071555|PMID:22409937|PMID:23934111|PMID:25741868|PMID:28148630|PMID:28492532|PMID:29190809|PMID:32581362 10048707 CV194351 NM_001202.6(BMP4):c.455T>C (p.Val152Ala) variant DOID:0080404 orofacial cleft 11 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Orofacial cleft 11 PMID:12404109|PMID:18771417|PMID:19249007|PMID:19557432|PMID:23227324|PMID:25741868|PMID:28492532 10048707 CV194351 NM_001202.6(BMP4):c.455T>C (p.Val152Ala) variant DOID:0111805 syndromic microphthalmia 6 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Microphthalmia with brain and digit anomalies PMID:12404109|PMID:18771417|PMID:19249007|PMID:19557432|PMID:23227324|PMID:25741868|PMID:28492532 10048707 CV194351 NM_001202.6(BMP4):c.455T>C (p.Val152Ala) variant DOID:9296 cleft lip IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant PMID:12404109|PMID:18771417|PMID:19249007|PMID:19557432|PMID:23227324|PMID:25741868|PMID:28492532 10048708 CV194352 NM_001235.5(SERPINH1):c.744C>T (p.Asp248=) variant DOID:0110346 osteogenesis imperfecta type 10 IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 10 PMID:25741868|PMID:28492532 10048708 CV194352 NM_001235.5(SERPINH1):c.744C>T (p.Asp248=) variant DOID:12347 osteogenesis imperfecta IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:25741868|PMID:28492532 10048709 CV194360 NM_001701.4(BAAT):c.951G>A (p.Gln317=) variant DOID:0061181 familial hypercholanemia 1 IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Hypercholanemia, familial 1 PMID:25741868|PMID:28492532 10048711 CV194367 NM_002335.4(LRP5):c.687-8G>A variant DOID:4254 osteosclerosis IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteosclerosis PMID:25741868|PMID:28492532 10048713 CV194371 NM_003000.3(SDHB):c.343C>T (p.Arg115Ter) variant DOID:0050771 pheochromocytoma IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Pheochromocytoma PMID:16258955|PMID:16317055|PMID:16405730|PMID:17200167|PMID:19389109|PMID:19454582|PMID:19802898|PMID:21348866|PMID:24033266|PMID:24523625|PMID:25047027|PMID:25151137|PMID:25683602|PMID:25741868|PMID:25873086|PMID:28374168|PMID:28490599|PMID:28492532|PMID:29386252|PMID:30050099|PMID:30201732|PMID:30352407|PMID:31666924|PMID:32688340 10048713 CV194371 NM_003000.3(SDHB):c.343C>T (p.Arg115Ter) variant DOID:0050773 paraganglioma IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Paraganglioma, familial malignant PMID:16258955|PMID:16317055|PMID:16405730|PMID:17200167|PMID:19389109|PMID:19454582|PMID:19802898|PMID:21348866|PMID:24033266|PMID:24523625|PMID:25047027|PMID:25151137|PMID:25683602|PMID:25741868|PMID:25873086|PMID:28374168|PMID:28490599|PMID:28492532|PMID:29386252|PMID:30050099|PMID:30201732|PMID:30352407|PMID:31666924|PMID:32688340 10048713 CV194371 NM_003000.3(SDHB):c.343C>T (p.Arg115Ter) variant DOID:0061218 pheochromocytoma/paraganglioma syndrome 3 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Pheochromocytoma, familial extraadrenal PMID:16258955|PMID:16317055|PMID:16405730|PMID:17200167|PMID:19389109|PMID:19454582|PMID:19802898|PMID:21348866|PMID:24033266|PMID:24523625|PMID:25047027|PMID:25151137|PMID:25683602|PMID:25741868|PMID:25873086|PMID:28374168|PMID:28490599|PMID:28492532|PMID:29386252|PMID:30050099|PMID:30201732|PMID:30352407|PMID:31666924|PMID:32688340 10048713 CV194371 NM_003000.3(SDHB):c.343C>T (p.Arg115Ter) variant DOID:0061219 pheochromocytoma/paraganglioma syndrome 4 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Paragangliomas 4 PMID:16258955|PMID:16317055|PMID:16405730|PMID:17200167|PMID:19389109|PMID:19454582|PMID:19802898|PMID:21348866|PMID:24033266|PMID:24523625|PMID:25047027|PMID:25151137|PMID:25683602|PMID:25741868|PMID:25873086|PMID:28374168|PMID:28490599|PMID:28492532|PMID:29386252|PMID:30050099|PMID:30201732|PMID:30352407|PMID:31666924|PMID:32688340 10048713 CV194371 NM_003000.3(SDHB):c.343C>T (p.Arg115Ter) variant DOID:9005607 Hereditary Paraganglioma-Pheochromocytoma Syndromes IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes PMID:16258955|PMID:16317055|PMID:16405730|PMID:17200167|PMID:19389109|PMID:19454582|PMID:19802898|PMID:21348866|PMID:24033266|PMID:24523625|PMID:25047027|PMID:25151137|PMID:25683602|PMID:25741868|PMID:25873086|PMID:28374168|PMID:28490599|PMID:28492532|PMID:29386252|PMID:30050099|PMID:30201732|PMID:30352407|PMID:31666924|PMID:32688340 10048713 CV194371 NM_003000.3(SDHB):c.343C>T (p.Arg115Ter) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:16258955|PMID:16317055|PMID:16405730|PMID:17200167|PMID:19389109|PMID:19454582|PMID:19802898|PMID:21348866|PMID:24033266|PMID:24523625|PMID:25047027|PMID:25151137|PMID:25683602|PMID:25741868|PMID:25873086|PMID:28374168|PMID:28490599|PMID:28492532|PMID:29386252|PMID:30050099|PMID:30201732|PMID:30352407|PMID:31666924|PMID:32688340 10048713 CV194371 NM_003000.3(SDHB):c.343C>T (p.Arg115Ter) variant DOID:9253 gastrointestinal stromal tumor IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma PMID:16258955|PMID:16317055|PMID:16405730|PMID:17200167|PMID:19389109|PMID:19454582|PMID:19802898|PMID:21348866|PMID:24033266|PMID:24523625|PMID:25047027|PMID:25151137|PMID:25683602|PMID:25741868|PMID:25873086|PMID:28374168|PMID:28490599|PMID:28492532|PMID:29386252|PMID:30050099|PMID:30201732|PMID:30352407|PMID:31666924|PMID:32688340 10048714 CV194375 NM_003392.7(WNT5A):c.588C>T (p.Phe196=) variant DOID:0060766 autosomal dominant Robinow syndrome 1 IAGP D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: WNT5A-related condition PMID:28492532 10048715 CV194378 NM_001130987.2(DYSF):c.268C>T (p.Arg90Ter) variant DOID:0070199 Miyoshi muscular dystrophy 1 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Miyoshi muscular dystrophy 1 PMID:14673575|PMID:17698709|PMID:18853459|PMID:20301480|PMID:21173544|PMID:23641709|PMID:25741868|PMID:28492532 10048715 CV194378 NM_001130987.2(DYSF):c.268C>T (p.Arg90Ter) variant DOID:0110276 autosomal recessive limb-girdle muscular dystrophy type 2B IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 3 PMID:14673575|PMID:17698709|PMID:18853459|PMID:20301480|PMID:21173544|PMID:23641709|PMID:25741868|PMID:28492532 10048718 CV194385 NM_003896.4(ST3GAL5):c.648C>T (p.Phe216=) variant DOID:0060470 salt and pepper syndrome IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: GM3 synthase deficiency PMID:25741868|PMID:26467025|PMID:28492532 10048719 CV194386 NM_003919.3(SGCE):c.391-3T>C variant DOID:0090034 myoclonic dystonia 11 IAGP D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 11 PMID:15728306|PMID:18349702|PMID:18362280|PMID:2367709|PMID:25741868|PMID:26467025|PMID:28492532 10048721 CV194396 NM_004369.4(COL6A3):c.775G>A (p.Ala259Thr) variant DOID:0050663 Bethlem myopathy IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Myopathy, benign congenital, with contractures PMID:26467025|PMID:28492532 10048721 CV194396 NM_004369.4(COL6A3):c.775G>A (p.Ala259Thr) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:26467025|PMID:28492532 10048721 CV194396 NM_004369.4(COL6A3):c.775G>A (p.Ala259Thr) variant DOID:630 genetic disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532 10048723 CV194409 NM_005055.5(RAPSN):c.737C>T (p.Ala246Val) variant DOID:0110675 congenital myasthenic syndrome 11 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 11 PMID:12796535|PMID:16770791|PMID:25741868|PMID:28492532|PMID:31127727|PMID:34565654 10048723 CV194409 NM_005055.5(RAPSN):c.737C>T (p.Ala246Val) variant DOID:0111377 fetal akinesia deformation sequence syndrome 1 IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:12796535|PMID:16770791|PMID:25741868|PMID:28492532|PMID:31127727|PMID:34565654 10048723 CV194409 NM_005055.5(RAPSN):c.737C>T (p.Ala246Val) variant DOID:0111378 fetal akinesia deformation sequence syndrome 2 IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 2 PMID:12796535|PMID:16770791|PMID:25741868|PMID:28492532|PMID:31127727|PMID:34565654 10048724 CV194410 NM_005055.5(RAPSN):c.691-11del variant DOID:0110675 congenital myasthenic syndrome 11 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 11 PMID:25741868|PMID:28492532 10048724 CV194410 NM_005055.5(RAPSN):c.691-11del variant DOID:0111377 fetal akinesia deformation sequence syndrome 1 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:28492532 10048724 CV194410 NM_005055.5(RAPSN):c.691-11del variant DOID:0111378 fetal akinesia deformation sequence syndrome 2 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 2 PMID:25741868|PMID:28492532 10048724 CV194410 NM_005055.5(RAPSN):c.691-11del variant DOID:3635 congenital myasthenic syndrome IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome PMID:25741868|PMID:28492532 10048725 CV194412 NM_001377295.2(GNAT2):c.370G>A (p.Val124Met) variant DOID:0110010 achromatopsia 4 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: GNAT2-related condition PMID:25741868|PMID:27479814|PMID:28492532 10048725 CV194412 NM_001377295.2(GNAT2):c.370G>A (p.Val124Met) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:27479814|PMID:28492532 10048726 CV194414 NM_005477.3(HCN4):c.1444G>A (p.Gly482Arg) variant DOID:0110225 Brugada syndrome 8 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Brugada syndrome 8 PMID:25145517|PMID:25145518|PMID:26206080|PMID:26688388|PMID:27173043|PMID:28104484|PMID:28492532|PMID:30471092|PMID:31731876|PMID:32577394 10048727 CV194417 NM_005592.4(MUSK):c.398T>C (p.Ile133Thr) variant DOID:0110670 congenital myasthenic syndrome 9 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency PMID:25741868|PMID:26467025|PMID:28492532 10048727 CV194417 NM_005592.4(MUSK):c.398T>C (p.Ile133Thr) variant DOID:0111377 fetal akinesia deformation sequence syndrome 1 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Pena-Shokeir syndrome type I PMID:25741868|PMID:26467025|PMID:28492532 10048728 CV194432 NM_006269.2(RP1):c.4555del (p.Arg1519fs) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28418496 10048729 CV194433 NM_006269.2(RP1):c.2700dup (p.Pro901fs) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:11527933|PMID:19933189|PMID:25741868|PMID:28492532|PMID:29425069|PMID:30027431|PMID:33681214 10048730 CV194439 NM_006415.4(SPTLC1):c.261C>T (p.Gly87=) variant DOID:0070152 hereditary sensory and autonomic neuropathy type 1A IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 1A PMID:25741868|PMID:28492532 10048730 CV194439 NM_006415.4(SPTLC1):c.261C>T (p.Gly87=) variant DOID:0070162 hereditary sensory and autonomic neuropathy type 1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 1 PMID:25741868|PMID:28492532 10048730 CV194439 NM_006415.4(SPTLC1):c.261C>T (p.Gly87=) variant DOID:0081381 juvenile amyotrophic lateral sclerosis type 27 IAGP D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: SPTLC1-related condition PMID:25741868|PMID:28492532 10048730 CV194439 NM_006415.4(SPTLC1):c.261C>T (p.Gly87=) variant DOID:630 genetic disease IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10048731 CV194447 NM_007214.5(SEC63):c.340-12_340-11del variant DOID:0060975 polycystic liver disease 2 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Polycystic liver disease 2 PMID:25741868|PMID:28492532 10048731 CV194447 NM_007214.5(SEC63):c.340-12_340-11del variant DOID:0060980 polycystic liver disease 1 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Polycystic liver disease 1 PMID:25741868|PMID:28492532 10048736 CV194460 NM_014780.5(CUL7):c.1030G>A (p.Ala344Thr) variant DOID:9005349 Three M Syndrome 1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: 3M syndrome 1 PMID:25741868|PMID:28492532 10048737 CV194462 NM_014846.4(WASHC5):c.333-19A>G variant DOID:0110823 hereditary spastic paraplegia 8 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 PMID:25741868|PMID:28492532 10048738 CV194463 NM_014846.4(WASHC5):c.417+11A>G variant DOID:0110823 hereditary spastic paraplegia 8 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 PMID:25741868|PMID:28492532 10048739 CV194465 NM_015272.5(RPGRIP1L):c.255A>G (p.Leu85=) variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 10048739 CV194465 NM_015272.5(RPGRIP1L):c.255A>G (p.Leu85=) variant DOID:0050778 Meckel syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:28492532 10048739 CV194465 NM_015272.5(RPGRIP1L):c.255A>G (p.Leu85=) variant DOID:0070115 Meckel syndrome 1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Dysencephalia splachnocystica PMID:28492532 10048739 CV194465 NM_015272.5(RPGRIP1L):c.255A>G (p.Leu85=) variant DOID:0110980 Joubert syndrome 1 IAGP D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 10048740 CV194470 NM_016180.5(SLC45A2):c.987A>G (p.Thr329=) variant DOID:0070098 oculocutaneous albinism type IV IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Oculocutaneous albinism type 4 PMID:25741868|PMID:28492532 10048740 CV194470 NM_016180.5(SLC45A2):c.987A>G (p.Thr329=) variant DOID:9006017 Skin/Hair/Eye Pigmentation, Variation In, 5 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Skin/hair/eye pigmentation, variation in, 5 PMID:25741868|PMID:28492532 10048741 CV194471 NM_017617.5(NOTCH1):c.711C>T (p.Gly237=) variant DOID:0080333 aortic valve disease 1 IAGP D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Aortic valve disease 1 PMID:15472075|PMID:16614245|PMID:19245433|PMID:19635999|PMID:21670202|PMID:22077063|PMID:22210878|PMID:22858860|PMID:23086750|PMID:23734977|PMID:24943832|PMID:25741868|PMID:26837699|PMID:28492532 10048741 CV194471 NM_017617.5(NOTCH1):c.711C>T (p.Gly237=) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:15472075|PMID:16614245|PMID:19245433|PMID:19635999|PMID:21670202|PMID:22077063|PMID:22210878|PMID:22858860|PMID:23086750|PMID:23734977|PMID:24943832|PMID:25741868|PMID:26837699|PMID:28492532 10048741 CV194471 NM_017617.5(NOTCH1):c.711C>T (p.Gly237=) variant DOID:9005781 Adams-Oliver Syndrome 5 IAGP D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 5 PMID:15472075|PMID:16614245|PMID:19245433|PMID:19635999|PMID:21670202|PMID:22077063|PMID:22210878|PMID:22858860|PMID:23086750|PMID:23734977|PMID:24943832|PMID:25741868|PMID:26837699|PMID:28492532 10048742 CV194478 NM_017950.4(CCDC40):c.630C>T (p.Ser210=) variant DOID:0110623 primary ciliary dyskinesia 15 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 15 PMID:25741868|PMID:28492532 10048742 CV194478 NM_017950.4(CCDC40):c.630C>T (p.Ser210=) variant DOID:9562 primary ciliary dyskinesia IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:25741868|PMID:28492532 10048743 CV194479 NM_018297.4(NGLY1):c.493-9del variant DOID:0060991 congenital disorder of deglycosylation IAGP D RGD:8554872 20240820 ClinVar ClinVar Annotator: match by term: Congenital disorder of deglycosylation PMID:28492532 10048745 CV194494 NM_001370466.1(NOD2):c.2026C>T (p.Arg676Cys) variant DOID:0050678 Blau syndrome IAGP D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Blau syndrome PMID:11875755|PMID:12626759|PMID:15024686|PMID:15320482|PMID:15770725|PMID:16278823|PMID:21983784|PMID:22942351|PMID:24803813|PMID:25741868|PMID:26164256|PMID:28492532 10048745 CV194494 NM_001370466.1(NOD2):c.2026C>T (p.Arg676Cys) variant DOID:0110892 inflammatory bowel disease 1 IAGP D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 1 PMID:11875755|PMID:12626759|PMID:15024686|PMID:15320482|PMID:15770725|PMID:16278823|PMID:21983784|PMID:22942351|PMID:24803813|PMID:25741868|PMID:26164256|PMID:28492532 10048745 CV194494 NM_001370466.1(NOD2):c.2026C>T (p.Arg676Cys) variant DOID:2935 Chediak-Higashi syndrome IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:11875755|PMID:12626759|PMID:15024686|PMID:15320482|PMID:15770725|PMID:16278823|PMID:21983784|PMID:22942351|PMID:24803813|PMID:25741868|PMID:26164256|PMID:28492532 10048745 CV194494 NM_001370466.1(NOD2):c.2026C>T (p.Arg676Cys) variant DOID:8778 Crohn's disease IAGP D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 1 PMID:11875755|PMID:12626759|PMID:15024686|PMID:15320482|PMID:15770725|PMID:16278823|PMID:21983784|PMID:22942351|PMID:24803813|PMID:25741868|PMID:26164256|PMID:28492532 10048746 CV194501 NM_024301.5(FKRP):c.636G>A (p.Ala212=) variant DOID:0050560 Walker-Warburg syndrome IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:25741868|PMID:26467025|PMID:28492532 10048747 CV194511 NM_024301.5(FKRP):c.1179A>G (p.Val393=) variant DOID:0050560 Walker-Warburg syndrome IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:25741868|PMID:26467025|PMID:28492532 10048748 CV194512 NM_024592.5(SRD5A3):c.603G>A (p.Trp201Ter) variant DOID:5212 congenital disorder of glycosylation IAGP D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:27480077 10048748 CV194512 NM_024592.5(SRD5A3):c.603G>A (p.Trp201Ter) variant DOID:630 genetic disease IAGP D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:27480077 10048749 CV194514 NM_024757.5(EHMT1):c.737G>A (p.Arg246Gln) variant DOID:0060352 Kleefstra syndrome 1 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:25741868|PMID:28492532 10048749 CV194514 NM_024757.5(EHMT1):c.737G>A (p.Arg246Gln) variant DOID:630 genetic disease IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10048750 CV194520 NM_031471.6(FERMT3):c.405C>T (p.His135=) variant DOID:0110912 leukocyte adhesion deficiency 3 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:25741868|PMID:28492532 10048751 CV194530 NM_001159773.2(CANT1):c.836-9G>A variant DOID:9007521 Desbuquois Dysplasia 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Desbuquois dysplasia 1 PMID:21037275|PMID:25741868|PMID:28492532 10048752 CV194535 NM_001370298.3(FGD4):c.846C>G (p.Asp282Glu) variant DOID:0050541 Charcot-Marie-Tooth disease type 4 IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:25741868|PMID:28492532 10048752 CV194535 NM_001370298.3(FGD4):c.846C>G (p.Asp282Glu) variant DOID:0110192 Charcot-Marie-Tooth disease type 4H IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 4H PMID:25741868|PMID:28492532 10048752 CV194535 NM_001370298.3(FGD4):c.846C>G (p.Asp282Glu) variant DOID:10595 Charcot-Marie-Tooth disease IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:25741868|PMID:28492532 10048753 CV194543 NM_153717.3(EVC):c.473C>G (p.Ser158Cys) variant DOID:12714 Ellis-Van Creveld syndrome IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld Syndrome PMID:28492532 10048754 CV194545 NM_153717.3(EVC):c.469C>G (p.Pro157Ala) variant DOID:12714 Ellis-Van Creveld syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:25741868|PMID:28492532 10048754 CV194545 NM_153717.3(EVC):c.469C>G (p.Pro157Ala) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10048755 CV194549 NM_177924.5(ASAH1):c.303+7G>A variant DOID:0050464 Farber lipogranulomatosis IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Farber disease PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10048755 CV194549 NM_177924.5(ASAH1):c.303+7G>A variant DOID:0111527 spinal muscular atrophy with progressive myoclonic epilepsy IAGP D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: MYOCLONUS, HEREDITARY, WITH PROGRESSIVE DISTAL MUSCULAR ATROPHY PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10048756 CV194550 NM_177924.5(ASAH1):c.277A>G (p.Ile93Val) variant DOID:0050464 Farber lipogranulomatosis IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Farber disease PMID:24033266|PMID:25741868|PMID:28492532 10048756 CV194550 NM_177924.5(ASAH1):c.277A>G (p.Ile93Val) variant DOID:0111527 spinal muscular atrophy with progressive myoclonic epilepsy IAGP D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: MYOCLONUS, HEREDITARY, WITH PROGRESSIVE DISTAL MUSCULAR ATROPHY PMID:24033266|PMID:25741868|PMID:28492532 10048757 CV194552 NM_194318.4(B3GLCT):c.161-8dup variant DOID:0080201 Peters plus syndrome IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Peters plus syndrome PMID:28492532 10048760 CV194558 NM_198506.5(LRIT3):c.1006A>T (p.Met336Leu) variant DOID:0050534 congenital stationary night blindness IAGP D RGD:8554872 20211109 ClinVar ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Recessive PMID:25741868|PMID:28492532 10048760 CV194558 NM_198506.5(LRIT3):c.1006A>T (p.Met336Leu) variant DOID:0110864 congenital stationary night blindness 1F IAGP D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness, type 1F PMID:25741868|PMID:28492532 10048761 CV194559 NM_198506.5(LRIT3):c.1509G>A (p.Thr503=) variant DOID:0050534 congenital stationary night blindness IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Recessive PMID:25741868|PMID:28492532 10048762 CV194563 NM_213599.3(ANO5):c.172C>T (p.Arg58Trp) variant DOID:0070201 Miyoshi muscular dystrophy 3 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Miyoshi muscular dystrophy 3 PMID:22336395|PMID:22499103|PMID:23041008|PMID:23670307|PMID:25741868|PMID:25864073|PMID:25891276|PMID:26467025|PMID:27671536|PMID:27854218|PMID:28492532|PMID:30919934|PMID:32528171|PMID:32925086|PMID:33496727|PMID:36913258 10048762 CV194563 NM_213599.3(ANO5):c.172C>T (p.Arg58Trp) variant DOID:0110274 autosomal recessive limb-girdle muscular dystrophy IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy PMID:22336395|PMID:22499103|PMID:23041008|PMID:23670307|PMID:25741868|PMID:25864073|PMID:25891276|PMID:26467025|PMID:27671536|PMID:27854218|PMID:28492532|PMID:30919934|PMID:32528171|PMID:32925086|PMID:33496727|PMID:36913258 10048762 CV194563 NM_213599.3(ANO5):c.172C>T (p.Arg58Trp) variant DOID:0110284 autosomal recessive limb-girdle muscular dystrophy type 2L IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2L PMID:22336395|PMID:22499103|PMID:23041008|PMID:23670307|PMID:25741868|PMID:25864073|PMID:25891276|PMID:26467025|PMID:27671536|PMID:27854218|PMID:28492532|PMID:30919934|PMID:32528171|PMID:32925086|PMID:33496727|PMID:36913258 10048762 CV194563 NM_213599.3(ANO5):c.172C>T (p.Arg58Trp) variant DOID:0111533 gnathodiaphyseal dysplasia IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Gnathodiaphyseal dysplasia PMID:22336395|PMID:22499103|PMID:23041008|PMID:23670307|PMID:25741868|PMID:25864073|PMID:25891276|PMID:26467025|PMID:27671536|PMID:27854218|PMID:28492532|PMID:30919934|PMID:32528171|PMID:32925086|PMID:33496727|PMID:36913258 10048763 CV194565 NM_000093.5(COL5A1):c.3204+3G>A variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10048763 CV194565 NM_000093.5(COL5A1):c.3204+3G>A variant DOID:14720 Ehlers-Danlos syndrome classic type 1 IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:25741868|PMID:28492532 10048764 CV194570 NM_001457.4(FLNB):c.6683T>C (p.Ile2228Thr) variant DOID:0080096 myofibrillar myopathy 5 IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: FLNB-Related Disorders PMID:25741868|PMID:28492532 10048764 CV194570 NM_001457.4(FLNB):c.6683T>C (p.Ile2228Thr) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10048764 CV194570 NM_001457.4(FLNB):c.6683T>C (p.Ile2228Thr) variant DOID:65 connective tissue disease IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 10048765 CV194573 NM_004006.3(DMD):c.5697del (p.Lys1899fs) variant DOID:11723 Duchenne muscular dystrophy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:16770791|PMID:19409785|PMID:25007885|PMID:25741868|PMID:28492532|PMID:31727011 10048765 CV194573 NM_004006.3(DMD):c.5697del (p.Lys1899fs) variant DOID:9883 Becker muscular dystrophy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Becker muscular dystrophy PMID:16770791|PMID:19409785|PMID:25007885|PMID:25741868|PMID:28492532|PMID:31727011 10048766 CV194575 NM_004006.3(DMD):c.5723A>T (p.Asp1908Val) variant DOID:0080326 familial hypertrophic cardiomyopathy IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532|PMID:31333075|PMID:31568572 10048766 CV194575 NM_004006.3(DMD):c.5723A>T (p.Asp1908Val) variant DOID:0110307 hypertrophic cardiomyopathy 1 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:24033266|PMID:25741868|PMID:28492532|PMID:31333075|PMID:31568572 10048766 CV194575 NM_004006.3(DMD):c.5723A>T (p.Asp1908Val) variant DOID:11723 Duchenne muscular dystrophy IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:24033266|PMID:25741868|PMID:28492532|PMID:31333075|PMID:31568572 10048767 CV194576 NM_004369.4(COL6A3):c.8745G>A (p.Ala2915=) variant DOID:0050663 Bethlem myopathy IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Myopathy, benign congenital, with contractures PMID:25741868|PMID:28492532 10048767 CV194576 NM_004369.4(COL6A3):c.8745G>A (p.Ala2915=) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:25741868|PMID:28492532 10048768 CV194580 NM_014014.5(SNRNP200):c.5664C>T (p.His1888=) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532 10048770 CV194594 NM_001130987.2(DYSF):c.4551G>A (p.Trp1517Ter) variant DOID:0070199 Miyoshi muscular dystrophy 1 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Miyoshi muscular dystrophy 1 PMID:17698709|PMID:20301480|PMID:25741868|PMID:25868377|PMID:26467025|PMID:28492532|PMID:32400077|PMID:33215690|PMID:36672942 10048770 CV194594 NM_001130987.2(DYSF):c.4551G>A (p.Trp1517Ter) variant DOID:0110276 autosomal recessive limb-girdle muscular dystrophy type 2B IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 3 PMID:17698709|PMID:20301480|PMID:25741868|PMID:25868377|PMID:26467025|PMID:28492532|PMID:32400077|PMID:33215690|PMID:36672942 10048770 CV194594 NM_001130987.2(DYSF):c.4551G>A (p.Trp1517Ter) variant DOID:0111187 distal myopathy with anterior tibial onset IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Distal myopathy with anterior tibial onset PMID:17698709|PMID:20301480|PMID:25741868|PMID:25868377|PMID:26467025|PMID:28492532|PMID:32400077|PMID:33215690|PMID:36672942 10048771 CV194595 NM_004006.3(DMD):c.5868G>A (p.Trp1956Ter) variant DOID:11723 Duchenne muscular dystrophy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:16770791|PMID:19937601|PMID:25007885|PMID:25741868|PMID:28492532|PMID:30833962 10048771 CV194595 NM_004006.3(DMD):c.5868G>A (p.Trp1956Ter) variant DOID:9883 Becker muscular dystrophy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Becker muscular dystrophy PMID:16770791|PMID:19937601|PMID:25007885|PMID:25741868|PMID:28492532|PMID:30833962 10048772 CV194604 NM_014014.5(SNRNP200):c.5766C>T (p.Leu1922=) variant DOID:0110366 retinitis pigmentosa 33 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 33 PMID:25741868|PMID:28492532 10048772 CV194604 NM_014014.5(SNRNP200):c.5766C>T (p.Leu1922=) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532 10048773 CV194605 NM_152564.5(VPS13B):c.7338T>C (p.Phe2446=) variant DOID:0111590 Cohen syndrome IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:25741868|PMID:28492532 10048773 CV194605 NM_152564.5(VPS13B):c.7338T>C (p.Phe2446=) variant DOID:630 genetic disease IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10048774 CV194607 NM_133433.4(NIPBL):c.6955-9del variant DOID:0080505 Cornelia de Lange syndrome 1 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 PMID:18414213|PMID:25741868|PMID:28492532 10048775 CV194608 NM_206933.4(USH2A):c.7595-3C>G variant DOID:0050439 Usher syndrome IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:17405132|PMID:17576681|PMID:20052763|PMID:22135276|PMID:24944099|PMID:25097241|PMID:25649381|PMID:25741868|PMID:26969326|PMID:27208204|PMID:27460420|PMID:28041643|PMID:28492532|PMID:28981474|PMID:31589614|PMID:31816670|PMID:31964843|PMID:32176120|PMID:32581362|PMID:34758253|PMID:34948090|PMID:35266249|PMID:36011334|PMID:36819107|PMID:9536098 10048775 CV194608 NM_206933.4(USH2A):c.7595-3C>G variant DOID:0110360 retinitis pigmentosa 39 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 39 PMID:17405132|PMID:17576681|PMID:20052763|PMID:22135276|PMID:24944099|PMID:25097241|PMID:25649381|PMID:25741868|PMID:26969326|PMID:27208204|PMID:27460420|PMID:28041643|PMID:28492532|PMID:28981474|PMID:31589614|PMID:31816670|PMID:31964843|PMID:32176120|PMID:32581362|PMID:34758253|PMID:34948090|PMID:35266249|PMID:36011334|PMID:36819107|PMID:9536098 10048775 CV194608 NM_206933.4(USH2A):c.7595-3C>G variant DOID:0110838 Usher syndrome type 2A IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2A PMID:17405132|PMID:17576681|PMID:20052763|PMID:22135276|PMID:24944099|PMID:25097241|PMID:25649381|PMID:25741868|PMID:26969326|PMID:27208204|PMID:27460420|PMID:28041643|PMID:28492532|PMID:28981474|PMID:31589614|PMID:31816670|PMID:31964843|PMID:32176120|PMID:32581362|PMID:34758253|PMID:34948090|PMID:35266249|PMID:36011334|PMID:36819107|PMID:9536098 10048775 CV194608 NM_206933.4(USH2A):c.7595-3C>G variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:17405132|PMID:17576681|PMID:20052763|PMID:22135276|PMID:24944099|PMID:25097241|PMID:25649381|PMID:25741868|PMID:26969326|PMID:27208204|PMID:27460420|PMID:28041643|PMID:28492532|PMID:28981474|PMID:31589614|PMID:31816670|PMID:31964843|PMID:32176120|PMID:32581362|PMID:34758253|PMID:34948090|PMID:35266249|PMID:36011334|PMID:36819107|PMID:9536098 10048776 CV194613 NM_000393.5(COL5A2):c.2787G>A (p.Ala929=) variant DOID:0080726 Ehlers-Danlos syndrome classic type 2 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 2 PMID:25741868|PMID:28492532 10048776 CV194613 NM_000393.5(COL5A2):c.2787G>A (p.Ala929=) variant DOID:0080727 Ehlers-Danlos syndrome arthrochalasia type 1 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome type 7A PMID:25741868|PMID:28492532 10048776 CV194613 NM_000393.5(COL5A2):c.2787G>A (p.Ala929=) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10048776 CV194613 NM_000393.5(COL5A2):c.2787G>A (p.Ala929=) variant DOID:14720 Ehlers-Danlos syndrome classic type 1 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1 PMID:25741868|PMID:28492532 10048777 CV194622 NM_001458.5(FLNC):c.7091G>A (p.Arg2364His) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25617006|PMID:25741868|PMID:26467025|PMID:27296017|PMID:28356264|PMID:28492532 10048777 CV194622 NM_001458.5(FLNC):c.7091G>A (p.Arg2364His) variant DOID:0080096 myofibrillar myopathy 5 IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 5 PMID:25617006|PMID:25741868|PMID:26467025|PMID:27296017|PMID:28356264|PMID:28492532 10048777 CV194622 NM_001458.5(FLNC):c.7091G>A (p.Arg2364His) variant DOID:0110327 hypertrophic cardiomyopathy 26 IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 26 PMID:25617006|PMID:25741868|PMID:26467025|PMID:27296017|PMID:28356264|PMID:28492532 10048777 CV194622 NM_001458.5(FLNC):c.7091G>A (p.Arg2364His) variant DOID:0111190 distal myopathy 4 IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Distal myopathy with posterior leg and anterior hand involvement PMID:25617006|PMID:25741868|PMID:26467025|PMID:27296017|PMID:28356264|PMID:28492532 10048777 CV194622 NM_001458.5(FLNC):c.7091G>A (p.Arg2364His) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant PMID:25617006|PMID:25741868|PMID:26467025|PMID:27296017|PMID:28356264|PMID:28492532 10048779 CV194635 NM_080680.3(COL11A2):c.3111G>T (p.Pro1037=) variant DOID:0080026 otospondylomegaepiphyseal dysplasia, autosomal recessive IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Otospondylomegaepiphyseal dysplasia, autosomal recessive PMID:24033266|PMID:25741868|PMID:28492532 10048779 CV194635 NM_080680.3(COL11A2):c.3111G>T (p.Pro1037=) variant DOID:0080046 Stickler syndrome IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Stickler Syndrome, Dominant PMID:24033266|PMID:25741868|PMID:28492532 10048779 CV194635 NM_080680.3(COL11A2):c.3111G>T (p.Pro1037=) variant DOID:0080673 fibrochondrogenesis 2 IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Fibrochondrogenesis 2 PMID:24033266|PMID:25741868|PMID:28492532 10048779 CV194635 NM_080680.3(COL11A2):c.3111G>T (p.Pro1037=) variant DOID:0080677 otospondylomegaepiphyseal dysplasia, autosomal dominant IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Otospondylomegaepiphyseal dysplasia, autosomal dominant PMID:24033266|PMID:25741868|PMID:28492532 10048779 CV194635 NM_080680.3(COL11A2):c.3111G>T (p.Pro1037=) variant DOID:65 connective tissue disease IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:24033266|PMID:25741868|PMID:28492532 10048780 CV194636 NM_138694.4(PKHD1):c.6854G>A (p.Gly2285Glu) variant DOID:0050770 polycystic liver disease IAGP D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver PMID:15805161|PMID:16523049|PMID:25741868|PMID:26489027|PMID:28492532 10048780 CV194636 NM_138694.4(PKHD1):c.6854G>A (p.Gly2285Glu) variant DOID:0080212 polycystic kidney disease 4 IAGP D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE, INFANTILE, TYPE I PMID:15805161|PMID:16523049|PMID:25741868|PMID:26489027|PMID:28492532 10048780 CV194636 NM_138694.4(PKHD1):c.6854G>A (p.Gly2285Glu) variant DOID:0110860 polycystic kidney disease 3 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: PKD3 PMID:15805161|PMID:16523049|PMID:25741868|PMID:26489027|PMID:28492532 10048780 CV194636 NM_138694.4(PKHD1):c.6854G>A (p.Gly2285Glu) variant DOID:0110861 autosomal recessive polycystic kidney disease IAGP D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease PMID:15805161|PMID:16523049|PMID:25741868|PMID:26489027|PMID:28492532 10048780 CV194636 NM_138694.4(PKHD1):c.6854G>A (p.Gly2285Glu) variant DOID:898 autosomal dominant polycystic kidney disease IAGP D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1 PMID:15805161|PMID:16523049|PMID:25741868|PMID:26489027|PMID:28492532 10048781 CV194638 NM_000090.4(COL3A1):c.3133G>A (p.Ala1045Thr) variant DOID:13359 Ehlers-Danlos syndrome IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:22001912|PMID:24033266|PMID:25637381|PMID:25741868|PMID:25834947|PMID:27888582|PMID:28492532|PMID:30115950 10048781 CV194638 NM_000090.4(COL3A1):c.3133G>A (p.Ala1045Thr) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20200407 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and aortic dissections PMID:22001912|PMID:24033266|PMID:25637381|PMID:25741868|PMID:25834947|PMID:27888582|PMID:28492532|PMID:30115950 10048781 CV194638 NM_000090.4(COL3A1):c.3133G>A (p.Ala1045Thr) variant DOID:14756 vascular type Ehlers-Danlos syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Ehlers Danlos syndrome, Sack-Barabas type PMID:22001912|PMID:24033266|PMID:25637381|PMID:25741868|PMID:25834947|PMID:27888582|PMID:28492532|PMID:30115950 10048781 CV194638 NM_000090.4(COL3A1):c.3133G>A (p.Ala1045Thr) variant DOID:65 connective tissue disease IAGP D RGD:8554872 20200407 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:22001912|PMID:24033266|PMID:25637381|PMID:25741868|PMID:25834947|PMID:27888582|PMID:28492532|PMID:30115950 10048781 CV194638 NM_000090.4(COL3A1):c.3133G>A (p.Ala1045Thr) variant DOID:9001287 Ehlers-Danlos Syndrome Type 4 IAGP D RGD:8554872 20200407 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4 PMID:22001912|PMID:24033266|PMID:25637381|PMID:25741868|PMID:25834947|PMID:27888582|PMID:28492532|PMID:30115950 10048784 CV194646 NM_005045.4(RELN):c.6553A>T (p.Met2185Leu) variant DOID:0060748 familial temporal lobe epilepsy 1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 PMID:25741868|PMID:28492532 10048784 CV194646 NM_005045.4(RELN):c.6553A>T (p.Met2185Leu) variant DOID:0060902 Norman-Roberts syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Norman-Roberts syndrome PMID:25741868|PMID:28492532 10048785 CV194653 NM_001384732.1(CPLANE1):c.8462-1G>C variant DOID:0060376 Joubert syndrome with orofaciodigital defect IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Orofaciodigital syndrome VI PMID:16199547|PMID:24178751|PMID:25741868|PMID:26092869|PMID:28492532|PMID:31980526|PMID:33774617 10048785 CV194653 NM_001384732.1(CPLANE1):c.8462-1G>C variant DOID:0110986 Joubert Syndrome 17 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Joubert syndrome 17 PMID:16199547|PMID:24178751|PMID:25741868|PMID:26092869|PMID:28492532|PMID:31980526|PMID:33774617 10048785 CV194653 NM_001384732.1(CPLANE1):c.8462-1G>C variant DOID:630 genetic disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:24178751|PMID:25741868|PMID:26092869|PMID:28492532|PMID:31980526|PMID:33774617 10048786 CV194657 NM_000088.4(COL1A1):c.3243T>C (p.Val1081=) variant DOID:0080727 Ehlers-Danlos syndrome arthrochalasia type 1 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasia type, 1 PMID:18272325|PMID:21594610|PMID:25741868|PMID:26467025|PMID:28492532|PMID:8456808 10048786 CV194657 NM_000088.4(COL1A1):c.3243T>C (p.Val1081=) variant DOID:0080730 Ehlers-Danlos syndrome cardiac valvular type IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasis type PMID:18272325|PMID:21594610|PMID:25741868|PMID:26467025|PMID:28492532|PMID:8456808 10048786 CV194657 NM_000088.4(COL1A1):c.3243T>C (p.Val1081=) variant DOID:0110334 osteogenesis imperfecta type 1 IAGP D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type I PMID:18272325|PMID:21594610|PMID:25741868|PMID:26467025|PMID:28492532|PMID:8456808 10048786 CV194657 NM_000088.4(COL1A1):c.3243T>C (p.Val1081=) variant DOID:0110339 osteogenesis imperfecta type 3 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: OI type III PMID:18272325|PMID:21594610|PMID:25741868|PMID:26467025|PMID:28492532|PMID:8456808 10048786 CV194657 NM_000088.4(COL1A1):c.3243T>C (p.Val1081=) variant DOID:0110340 osteogenesis imperfecta type 4 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Osteogenesis Imperfecta Type IV PMID:18272325|PMID:21594610|PMID:25741868|PMID:26467025|PMID:28492532|PMID:8456808 10048786 CV194657 NM_000088.4(COL1A1):c.3243T>C (p.Val1081=) variant DOID:0110341 osteogenesis imperfecta type 2 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Osteogenesis Imperfecta Type IIA PMID:18272325|PMID:21594610|PMID:25741868|PMID:26467025|PMID:28492532|PMID:8456808 10048786 CV194657 NM_000088.4(COL1A1):c.3243T>C (p.Val1081=) variant DOID:11476 osteoporosis IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Osteoporosis PMID:18272325|PMID:21594610|PMID:25741868|PMID:26467025|PMID:28492532|PMID:8456808 10048786 CV194657 NM_000088.4(COL1A1):c.3243T>C (p.Val1081=) variant DOID:12347 osteogenesis imperfecta IAGP D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:18272325|PMID:21594610|PMID:25741868|PMID:26467025|PMID:28492532|PMID:8456808 10048786 CV194657 NM_000088.4(COL1A1):c.3243T>C (p.Val1081=) variant DOID:13359 Ehlers-Danlos syndrome IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:18272325|PMID:21594610|PMID:25741868|PMID:26467025|PMID:28492532|PMID:8456808 10048786 CV194657 NM_000088.4(COL1A1):c.3243T>C (p.Val1081=) variant DOID:4257 Caffey disease IAGP D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Infantile cortical hyperostosis PMID:18272325|PMID:21594610|PMID:25741868|PMID:26467025|PMID:28492532|PMID:8456808 10048786 CV194657 NM_000088.4(COL1A1):c.3243T>C (p.Val1081=) variant DOID:65 connective tissue disease IAGP D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Connective tissue disease PMID:18272325|PMID:21594610|PMID:25741868|PMID:26467025|PMID:28492532|PMID:8456808 10048786 CV194657 NM_000088.4(COL1A1):c.3243T>C (p.Val1081=) variant DOID:9006782 Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: OIEDS SYNDROME 1 PMID:18272325|PMID:21594610|PMID:25741868|PMID:26467025|PMID:28492532|PMID:8456808 10048787 CV194658 NM_000260.4(MYO7A):c.5968C>T (p.Gln1990Ter) variant DOID:0050439 Usher syndrome IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness PMID:16963483|PMID:25404053|PMID:28492532|PMID:8900236 10048787 CV194658 NM_000260.4(MYO7A):c.5968C>T (p.Gln1990Ter) variant DOID:0110477 autosomal recessive nonsyndromic deafness 2 IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 2 PMID:16963483|PMID:25404053|PMID:28492532|PMID:8900236 10048787 CV194658 NM_000260.4(MYO7A):c.5968C>T (p.Gln1990Ter) variant DOID:0110826 Usher syndrome type 1 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1 PMID:16963483|PMID:25404053|PMID:28492532|PMID:8900236 10048788 CV194664 NM_001844.5(COL2A1):c.3106C>T (p.Arg1036Ter) variant DOID:0080676 Stickler syndrome 1 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Stickler syndrome type 1 PMID:16752401|PMID:20179744|PMID:20513134|PMID:25741868|PMID:25809783|PMID:28492532 10048789 CV194665 NM_001130987.2(DYSF):c.4937T>C (p.Ile1646Thr) variant DOID:0070199 Miyoshi muscular dystrophy 1 IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Miyoshi muscular dystrophy 1 PMID:25525159|PMID:25741868|PMID:26467025|PMID:27884173|PMID:28492532 10048789 CV194665 NM_001130987.2(DYSF):c.4937T>C (p.Ile1646Thr) variant DOID:0110274 autosomal recessive limb-girdle muscular dystrophy IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy PMID:25525159|PMID:25741868|PMID:26467025|PMID:27884173|PMID:28492532 10048789 CV194665 NM_001130987.2(DYSF):c.4937T>C (p.Ile1646Thr) variant DOID:0110276 autosomal recessive limb-girdle muscular dystrophy type 2B IAGP D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 3 PMID:25525159|PMID:25741868|PMID:26467025|PMID:27884173|PMID:28492532 10048790 CV194668 NM_001384732.1(CPLANE1):c.8633-3del variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 10048791 CV194669 NM_133433.4(NIPBL):c.7463A>G (p.Asn2488Ser) variant DOID:0080505 Cornelia de Lange syndrome 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 PMID:28492532 10048791 CV194669 NM_133433.4(NIPBL):c.7463A>G (p.Asn2488Ser) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10048792 CV194671 NM_206933.4(USH2A):c.8682-9A>G variant DOID:0050439 Usher syndrome IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:18273898|PMID:23591405|PMID:25425308|PMID:25741868|PMID:27318125|PMID:28492532|PMID:28894305|PMID:28944237|PMID:30311386|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32531858|PMID:33576794|PMID:34426522|PMID:34781295|PMID:34906470|PMID:35266249|PMID:35836572 10048792 CV194671 NM_206933.4(USH2A):c.8682-9A>G variant DOID:0110360 retinitis pigmentosa 39 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 39 PMID:18273898|PMID:23591405|PMID:25425308|PMID:25741868|PMID:27318125|PMID:28492532|PMID:28894305|PMID:28944237|PMID:30311386|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32531858|PMID:33576794|PMID:34426522|PMID:34781295|PMID:34906470|PMID:35266249|PMID:35836572 10048792 CV194671 NM_206933.4(USH2A):c.8682-9A>G variant DOID:0110838 Usher syndrome type 2A IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2A PMID:18273898|PMID:23591405|PMID:25425308|PMID:25741868|PMID:27318125|PMID:28492532|PMID:28894305|PMID:28944237|PMID:30311386|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32531858|PMID:33576794|PMID:34426522|PMID:34781295|PMID:34906470|PMID:35266249|PMID:35836572 10048792 CV194671 NM_206933.4(USH2A):c.8682-9A>G variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:18273898|PMID:23591405|PMID:25425308|PMID:25741868|PMID:27318125|PMID:28492532|PMID:28894305|PMID:28944237|PMID:30311386|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32531858|PMID:33576794|PMID:34426522|PMID:34781295|PMID:34906470|PMID:35266249|PMID:35836572 10048792 CV194671 NM_206933.4(USH2A):c.8682-9A>G variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:18273898|PMID:23591405|PMID:25425308|PMID:25741868|PMID:27318125|PMID:28492532|PMID:28894305|PMID:28944237|PMID:30311386|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32531858|PMID:33576794|PMID:34426522|PMID:34781295|PMID:34906470|PMID:35266249|PMID:35836572 10048793 CV194677 NM_001369.3(DNAH5):c.7609+19C>T variant DOID:0110599 primary ciliary dyskinesia 3 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 3 PMID:25741868|PMID:28492532 10048793 CV194677 NM_001369.3(DNAH5):c.7609+19C>T variant DOID:9562 primary ciliary dyskinesia IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:25741868|PMID:28492532 10048794 CV194680 NM_001845.6(COL4A1):c.3996C>T (p.Gly1332=) variant DOID:0060263 porencephaly IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: PORENCEPHALY, TYPE 1, AUTOSOMAL DOMINANT PMID:25741868|PMID:28492532 10048794 CV194680 NM_001845.6(COL4A1):c.3996C>T (p.Gly1332=) variant DOID:0090125 brain small vessel disease 1 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Brain small vessel disease 1 with or without ocular anomalies PMID:25741868|PMID:28492532 10048794 CV194680 NM_001845.6(COL4A1):c.3996C>T (p.Gly1332=) variant DOID:9003529 Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps PMID:25741868|PMID:28492532 10048795 CV194681 NM_001845.6(COL4A1):c.4002A>C (p.Gln1334His) variant DOID:0060263 porencephaly IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: PORENCEPHALY, TYPE 1, AUTOSOMAL DOMINANT PMID:18077766|PMID:25741868|PMID:26467025|PMID:28492532 10048795 CV194681 NM_001845.6(COL4A1):c.4002A>C (p.Gln1334His) variant DOID:0090125 brain small vessel disease 1 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Brain small vessel disease with hemorrhage PMID:18077766|PMID:25741868|PMID:26467025|PMID:28492532 10048795 CV194681 NM_001845.6(COL4A1):c.4002A>C (p.Gln1334His) variant DOID:9003529 Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps PMID:18077766|PMID:25741868|PMID:26467025|PMID:28492532 10048796 CV194690 NM_152564.5(VPS13B):c.8171A>G (p.Tyr2724Cys) variant DOID:0111590 Cohen syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:25741868|PMID:28492532 10048796 CV194690 NM_152564.5(VPS13B):c.8171A>G (p.Tyr2724Cys) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10048796 CV194690 NM_152564.5(VPS13B):c.8171A>G (p.Tyr2724Cys) variant DOID:9001162 Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness PMID:25741868|PMID:28492532 10048797 CV194692 NM_001384732.1(CPLANE1):c.8779A>G (p.Met2927Val) variant DOID:630 genetic disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10048798 CV194695 NM_138694.4(PKHD1):c.7194G>A (p.Trp2398Ter) variant DOID:0080212 polycystic kidney disease 4 IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease 4 PMID:19940839|PMID:25741868|PMID:28492532 10048798 CV194695 NM_138694.4(PKHD1):c.7194G>A (p.Trp2398Ter) variant DOID:0110861 autosomal recessive polycystic kidney disease IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease PMID:19940839|PMID:25741868|PMID:28492532 10048799 CV194696 NM_138694.4(PKHD1):c.7110-7T>A variant DOID:0110861 autosomal recessive polycystic kidney disease IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT HEPATIC DISEASE PMID:25741868|PMID:28492532 10048800 CV194697 NM_182914.3(SYNE2):c.7162G>A (p.Glu2388Lys) variant DOID:0070250 autosomal dominant Emery-Dreifuss muscular dystrophy 5 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 5, autosomal dominant PMID:26467025|PMID:27632638|PMID:28492532 10048801 CV194702 NM_001369.3(DNAH5):c.7752+10T>C variant DOID:0110599 primary ciliary dyskinesia 3 IAGP D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 3 PMID:25741868|PMID:28492532 10048801 CV194702 NM_001369.3(DNAH5):c.7752+10T>C variant DOID:9562 primary ciliary dyskinesia IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:25741868|PMID:28492532 10048802 CV194704 NM_001845.6(COL4A1):c.4056C>T (p.Tyr1352=) variant DOID:0060263 porencephaly IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: PORENCEPHALY, TYPE 1, AUTOSOMAL DOMINANT PMID:25741868|PMID:28492532 10048802 CV194704 NM_001845.6(COL4A1):c.4056C>T (p.Tyr1352=) variant DOID:0090125 brain small vessel disease 1 IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: BRAIN SMALL VESSEL DISEASE WITH AXENFELD-RIEGER ANOMALY PMID:25741868|PMID:28492532 10048802 CV194704 NM_001845.6(COL4A1):c.4056C>T (p.Tyr1352=) variant DOID:9003529 Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps PMID:25741868|PMID:28492532 10048804 CV194708 NM_005529.7(HSPG2):c.5755C>T (p.Arg1919Cys) variant DOID:0090005 Schwartz-Jampel syndrome 1 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Schwartz-Jampel syndrome PMID:25504735|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29970176 10048804 CV194708 NM_005529.7(HSPG2):c.5755C>T (p.Arg1919Cys) variant DOID:65 connective tissue disease IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25504735|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29970176 10048804 CV194708 NM_005529.7(HSPG2):c.5755C>T (p.Arg1919Cys) variant DOID:9005084 Kniest Like Dysplasia Lethal IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Lethal Kniest-like syndrome PMID:25504735|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29970176 10048805 CV194710 NM_005529.7(HSPG2):c.5702-5G>A variant DOID:0090005 Schwartz-Jampel syndrome 1 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Schwartz-Jampel syndrome PMID:25741868|PMID:26467025|PMID:28492532 10048805 CV194710 NM_005529.7(HSPG2):c.5702-5G>A variant DOID:65 connective tissue disease IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:26467025|PMID:28492532 10048805 CV194710 NM_005529.7(HSPG2):c.5702-5G>A variant DOID:9005084 Kniest Like Dysplasia Lethal IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Lethal Kniest-like syndrome PMID:25741868|PMID:26467025|PMID:28492532 10048806 CV194713 NM_025074.7(FRAS1):c.6468C>T (p.His2156=) variant DOID:0111405 Fraser syndrome 1 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Fraser syndrome 1 PMID:25741868|PMID:28492532 10048807 CV194718 NM_000088.4(COL1A1):c.3531+10C>A variant DOID:0110334 osteogenesis imperfecta type 1 IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type I PMID:25741868|PMID:26467025|PMID:28492532 10048807 CV194718 NM_000088.4(COL1A1):c.3531+10C>A variant DOID:12347 osteogenesis imperfecta IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:25741868|PMID:26467025|PMID:28492532 10048807 CV194718 NM_000088.4(COL1A1):c.3531+10C>A variant DOID:13359 Ehlers-Danlos syndrome IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:25741868|PMID:26467025|PMID:28492532 10048809 CV194725 NM_001844.5(COL2A1):c.3275G>A (p.Gly1092Asp) variant DOID:0112296 spondylometaphyseal dysplasia Algerian type IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Spondylometaphyseal dysplasia, Schmidt type PMID:17078022|PMID:19344236|PMID:28492532|PMID:29620724|PMID:38162154|PMID:7695699|PMID:8218237|PMID:9016532 10048811 CV194733 NM_025074.7(FRAS1):c.6584A>G (p.Glu2195Gly) variant DOID:0111405 Fraser syndrome 1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: FRAS1-related condition PMID:28492532 10048811 CV194733 NM_025074.7(FRAS1):c.6584A>G (p.Glu2195Gly) variant DOID:630 genetic disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10048812 CV194735 NM_025114.4(CEP290):c.6452T>C (p.Leu2151Ser) variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:25741868|PMID:28492532 10048812 CV194735 NM_025114.4(CEP290):c.6452T>C (p.Leu2151Ser) variant DOID:14791 Leber congenital amaurosis IAGP D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:25741868|PMID:28492532 10048813 CV194736 NM_182961.4(SYNE1):c.6934T>C (p.Phe2312Leu) variant DOID:0070249 autosomal dominant Emery-Dreifuss muscular dystrophy 4 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant PMID:26467025|PMID:28492532 10048813 CV194736 NM_182961.4(SYNE1):c.6934T>C (p.Phe2312Leu) variant DOID:0111618 autosomal recessive spinocerebellar ataxia 8 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 PMID:26467025|PMID:28492532 10048814 CV194742 NM_000093.5(COL5A1):c.3781G>A (p.Gly1261Arg) variant DOID:14720 Ehlers-Danlos syndrome classic type 1 IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:19344236|PMID:22696272|PMID:23587214|PMID:28492532|PMID:33726816|PMID:7695699|PMID:8218237 10048815 CV194746 NM_003482.4(KMT2D):c.15200C>T (p.Thr5067Met) variant DOID:0060473 Kabuki syndrome IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kabuki syndrome PMID:28492532 10048815 CV194746 NM_003482.4(KMT2D):c.15200C>T (p.Thr5067Met) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10048822 CV194758 NM_025114.4(CEP290):c.6604del (p.Ile2202fs) variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16909394|PMID:17345604|PMID:20690115|PMID:25741868|PMID:28492532|PMID:33546218|PMID:34196655|PMID:36460718|PMID:36537646 10048822 CV194758 NM_025114.4(CEP290):c.6604del (p.Ile2202fs) variant DOID:0070118 Meckel syndrome 4 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: CEP290-related disorder PMID:16909394|PMID:17345604|PMID:20690115|PMID:25741868|PMID:28492532|PMID:33546218|PMID:34196655|PMID:36460718|PMID:36537646 10048822 CV194758 NM_025114.4(CEP290):c.6604del (p.Ile2202fs) variant DOID:0110136 Bardet-Biedl syndrome 14 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 14 PMID:16909394|PMID:17345604|PMID:20690115|PMID:25741868|PMID:28492532|PMID:33546218|PMID:34196655|PMID:36460718|PMID:36537646 10048822 CV194758 NM_025114.4(CEP290):c.6604del (p.Ile2202fs) variant DOID:0110291 Leber congenital amaurosis 10 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 10 PMID:16909394|PMID:17345604|PMID:20690115|PMID:25741868|PMID:28492532|PMID:33546218|PMID:34196655|PMID:36460718|PMID:36537646 10048822 CV194758 NM_025114.4(CEP290):c.6604del (p.Ile2202fs) variant DOID:14791 Leber congenital amaurosis IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:16909394|PMID:17345604|PMID:20690115|PMID:25741868|PMID:28492532|PMID:33546218|PMID:34196655|PMID:36460718|PMID:36537646 10048822 CV194758 NM_025114.4(CEP290):c.6604del (p.Ile2202fs) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16909394|PMID:17345604|PMID:20690115|PMID:25741868|PMID:28492532|PMID:33546218|PMID:34196655|PMID:36460718|PMID:36537646 10048823 CV194762 NM_138694.4(PKHD1):c.7719dup (p.Met2574fs) variant DOID:0080212 polycystic kidney disease 4 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease 4 PMID:25741868 10048824 CV194777 NM_000016.6(ACADM):c.287-1G>C variant DOID:0080153 medium chain acyl-CoA dehydrogenase deficiency IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Medium-chain acyl-coenzyme A dehydrogenase deficiency PMID:16121256|PMID:16199547|PMID:20434380|PMID:28492532 10048825 CV194781 NM_000036.3(AMPD1):c.468G>T (p.Gln156His) variant DOID:9008558 MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Muscle AMP deaminase deficiency PMID:12117480|PMID:19353846|PMID:25741868|PMID:28492532|PMID:29095874 10048826 CV194782 NM_000049.4(ASPA):c.693C>T (p.Tyr231=) variant DOID:3613 Canavan disease IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Spongy degeneration of central nervous system PMID:25741868|PMID:28492532|PMID:8023850 10048826 CV194782 NM_000049.4(ASPA):c.693C>T (p.Tyr231=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:8023850 10048828 CV194786 NM_000071.3(CBS):c.374G>A (p.Arg125Gln) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10338090|PMID:12124992|PMID:14722927|PMID:18423051|PMID:20308073|PMID:20490928|PMID:20506325|PMID:21520339|PMID:22612060|PMID:25331909|PMID:25741868|PMID:28492532|PMID:29508359|PMID:7762555|PMID:7849717|PMID:9587029 10048828 CV194786 NM_000071.3(CBS):c.374G>A (p.Arg125Gln) variant DOID:9263 homocystinuria IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Homocystinuria PMID:10338090|PMID:12124992|PMID:14722927|PMID:18423051|PMID:20308073|PMID:20490928|PMID:20506325|PMID:21520339|PMID:22612060|PMID:25331909|PMID:25741868|PMID:28492532|PMID:29508359|PMID:7762555|PMID:7849717|PMID:9587029 10048829 CV194788 NM_000095.3(COMP):c.511G>A (p.Ala171Thr) variant DOID:0070303 multiple epiphyseal dysplasia 1 IAGP D RGD:8554872 20220705 ClinVar ClinVar Annotator: match by term: Multiple epiphyseal dysplasia type 1 PMID:25741868|PMID:28492532 10048829 CV194788 NM_000095.3(COMP):c.511G>A (p.Ala171Thr) variant DOID:0080047 pseudoachondroplasia IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome PMID:25741868|PMID:28492532 10048829 CV194788 NM_000095.3(COMP):c.511G>A (p.Ala171Thr) variant DOID:65 connective tissue disease IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 10048832 CV194791 NM_000142.5(FGFR3):c.588C>T (p.Arg196=) variant DOID:65 connective tissue disease IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 10048834 CV194794 NM_000152.5(GAA):c.917C>T (p.Ser306Leu) variant DOID:2752 glycogen storage disease II IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type II PMID:18414213|PMID:22252923|PMID:25741868|PMID:28492532 10048834 CV194794 NM_000152.5(GAA):c.917C>T (p.Ser306Leu) variant DOID:9001828 Cardiac Form of Generalized Glycogenosis IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Cardiomegalia glycogenica diffusa PMID:18414213|PMID:22252923|PMID:25741868|PMID:28492532 10048835 CV194797 NM_000158.4(GBE1):c.568A>G (p.Arg190Gly) variant DOID:2750 glycogen storage disease IV IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type IV PMID:25741868|PMID:28492532 10048835 CV194797 NM_000158.4(GBE1):c.568A>G (p.Arg190Gly) variant DOID:9007497 Polyglucosan Body Disease, Adult Form IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Adult polyglucosan body disease PMID:25741868|PMID:28492532 10048836 CV194803 NM_000182.5(HADHA):c.403A>G (p.Lys135Glu) variant DOID:0061186 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency 10048839 CV194810 NM_000256.3(MYBPC3):c.530G>C (p.Arg177Pro) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 10048841 CV194812 NM_000271.5(NPC1):c.612C>T (p.Thr204=) variant DOID:0070113 Niemann-Pick disease type C1 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C PMID:25741868|PMID:28492532 10048841 CV194812 NM_000271.5(NPC1):c.612C>T (p.Thr204=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10048842 CV194820 NM_000303.3(PMM2):c.442G>A (p.Asp148Asn) variant DOID:0080552 congenital disorder of glycosylation Ia IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Ia PMID:10801058|PMID:11058895|PMID:11715002|PMID:18203160|PMID:20301289|PMID:21949237|PMID:25741868|PMID:28492532|PMID:32635232|PMID:33413482 10048842 CV194820 NM_000303.3(PMM2):c.442G>A (p.Asp148Asn) variant DOID:630 genetic disease IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10801058|PMID:11058895|PMID:11715002|PMID:18203160|PMID:20301289|PMID:21949237|PMID:25741868|PMID:28492532|PMID:32635232|PMID:33413482 10048844 CV194829 NM_000433.4(NCF2):c.606G>A (p.Ala202=) variant DOID:0070191 autosomal recessive chronic granulomatous disease 2 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: p67-PHOX, DEFICIENCY OF PMID:25741868|PMID:28492532 10048846 CV194831 NM_000440.3(PDE6A):c.878C>T (p.Pro293Leu) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:24416769|PMID:25741868|PMID:27884173|PMID:28492532|PMID:30718709|PMID:31429209|PMID:32579692 10048846 CV194831 NM_000440.3(PDE6A):c.878C>T (p.Pro293Leu) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:24416769|PMID:25741868|PMID:27884173|PMID:28492532|PMID:30718709|PMID:31429209|PMID:32579692 10048847 CV194835 NM_000466.3(PEX1):c.1011G>A (p.Lys337=) variant DOID:0080476 peroxisome biogenesis disorder 1A IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) PMID:28492532 10048847 CV194835 NM_000466.3(PEX1):c.1011G>A (p.Lys337=) variant DOID:9006420 Zellweger Leukodystrophy IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Zellweger leukodystrophy PMID:28492532 10048847 CV194835 NM_000466.3(PEX1):c.1011G>A (p.Lys337=) variant DOID:905 Zellweger syndrome IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Zellweger syndrome PMID:28492532 10048848 CV194839 NM_000478.6(ALPL):c.330T>C (p.Ser110=) variant DOID:0110913 adult hypophosphatasia IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Adult hypophosphatasia PMID:24033266|PMID:25741868|PMID:27507156|PMID:28492532|PMID:28881669|PMID:34213743 10048848 CV194839 NM_000478.6(ALPL):c.330T>C (p.Ser110=) variant DOID:0110914 infantile hypophosphatasia IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Infantile hypophosphatasia PMID:24033266|PMID:25741868|PMID:27507156|PMID:28492532|PMID:28881669|PMID:34213743 10048848 CV194839 NM_000478.6(ALPL):c.330T>C (p.Ser110=) variant DOID:0110915 childhood hypophosphatasia IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Childhood hypophosphatasia PMID:24033266|PMID:25741868|PMID:27507156|PMID:28492532|PMID:28881669|PMID:34213743 10048848 CV194839 NM_000478.6(ALPL):c.330T>C (p.Ser110=) variant DOID:14213 hypophosphatasia IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hypophosphatasia PMID:24033266|PMID:25741868|PMID:27507156|PMID:28492532|PMID:28881669|PMID:34213743 10048849 CV194840 NM_000478.6(ALPL):c.455G>A (p.Arg152His) variant DOID:0110913 adult hypophosphatasia IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Adult hypophosphatasia PMID:11438998|PMID:11855933|PMID:17229666|PMID:21228398|PMID:21956185|PMID:22995991|PMID:24033266|PMID:25023282|PMID:25741868|PMID:26272126|PMID:26467025|PMID:27884173|PMID:27920814|PMID:28492530|PMID:28492532|PMID:30680361|PMID:31485555|PMID:31666285|PMID:31793067|PMID:33852075|PMID:34097127|PMID:34213743|PMID:34854399 10048849 CV194840 NM_000478.6(ALPL):c.455G>A (p.Arg152His) variant DOID:0110914 infantile hypophosphatasia IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Infantile hypophosphatasia PMID:11438998|PMID:11855933|PMID:17229666|PMID:21228398|PMID:21956185|PMID:22995991|PMID:24033266|PMID:25023282|PMID:25741868|PMID:26272126|PMID:26467025|PMID:27884173|PMID:27920814|PMID:28492530|PMID:28492532|PMID:30680361|PMID:31485555|PMID:31666285|PMID:31793067|PMID:33852075|PMID:34097127|PMID:34213743|PMID:34854399 10048849 CV194840 NM_000478.6(ALPL):c.455G>A (p.Arg152His) variant DOID:0110915 childhood hypophosphatasia IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Childhood hypophosphatasia PMID:11438998|PMID:11855933|PMID:17229666|PMID:21228398|PMID:21956185|PMID:22995991|PMID:24033266|PMID:25023282|PMID:25741868|PMID:26272126|PMID:26467025|PMID:27884173|PMID:27920814|PMID:28492530|PMID:28492532|PMID:30680361|PMID:31485555|PMID:31666285|PMID:31793067|PMID:33852075|PMID:34097127|PMID:34213743|PMID:34854399 10048849 CV194840 NM_000478.6(ALPL):c.455G>A (p.Arg152His) variant DOID:12347 osteogenesis imperfecta IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:11438998|PMID:11855933|PMID:17229666|PMID:21228398|PMID:21956185|PMID:22995991|PMID:24033266|PMID:25023282|PMID:25741868|PMID:26272126|PMID:26467025|PMID:27884173|PMID:27920814|PMID:28492530|PMID:28492532|PMID:30680361|PMID:31485555|PMID:31666285|PMID:31793067|PMID:33852075|PMID:34097127|PMID:34213743|PMID:34854399 10048849 CV194840 NM_000478.6(ALPL):c.455G>A (p.Arg152His) variant DOID:14213 hypophosphatasia IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Hypophosphatasia PMID:11438998|PMID:11855933|PMID:17229666|PMID:21228398|PMID:21956185|PMID:22995991|PMID:24033266|PMID:25023282|PMID:25741868|PMID:26272126|PMID:26467025|PMID:27884173|PMID:27920814|PMID:28492530|PMID:28492532|PMID:30680361|PMID:31485555|PMID:31666285|PMID:31793067|PMID:33852075|PMID:34097127|PMID:34213743|PMID:34854399 10048850 CV194844 NM_000528.4(MAN2B1):c.747C>T (p.Thr249=) variant DOID:3413 alpha-mannosidosis IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:25741868|PMID:28492532 10048851 CV194845 NM_000528.4(MAN2B1):c.743C>T (p.Pro248Leu) variant DOID:3413 alpha-mannosidosis IAGP D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Deficiency of alpha-mannosidase PMID:21505070|PMID:25741868|PMID:28492532 10048852 CV194847 NM_000642.3(AGL):c.535_538del (p.Leu179fs) variant DOID:2748 glycogen storage disease III IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Glycogen storage disease type III PMID:19299494|PMID:25741868|PMID:28492532 10048854 CV194862 NM_000157.4(GBA1):c.431T>G (p.Leu144Arg) variant DOID:1926 Gaucher's disease IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Gaucher disease PMID:12000368|PMID:25741868 10048857 CV194873 NM_001042432.2(CLN3):c.240G>A (p.Thr80=) variant DOID:0110731 neuronal ceroid lipofuscinosis 3 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 3 PMID:28492532 10048857 CV194873 NM_001042432.2(CLN3):c.240G>A (p.Thr80=) variant DOID:14503 neuronal ceroid lipofuscinosis IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 10048857 CV194873 NM_001042432.2(CLN3):c.240G>A (p.Thr80=) variant DOID:630 genetic disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10048860 CV194893 NM_001849.4(COL6A2):c.801+1G>A variant DOID:0050663 Bethlem myopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, benign congenital PMID:16199547|PMID:18366090|PMID:20976770|PMID:21280092|PMID:25741868|PMID:28492532|PMID:29406609 10048860 CV194893 NM_001849.4(COL6A2):c.801+1G>A variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:16199547|PMID:18366090|PMID:20976770|PMID:21280092|PMID:25741868|PMID:28492532|PMID:29406609 10048861 CV194895 NM_001853.4(COL9A3):c.308G>A (p.Arg103Gln) variant DOID:65 connective tissue disease IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:11565064|PMID:15917166|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28507545|PMID:30467950 10048862 CV194896 NM_001854.4(COL11A1):c.652-7_652-6del variant DOID:0080046 Stickler syndrome IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Stickler Syndrome, Dominant PMID:25741868|PMID:28492532 10048862 CV194896 NM_001854.4(COL11A1):c.652-7_652-6del variant DOID:0080672 fibrochondrogenesis 1 IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Fibrochondrogenesis 1 PMID:25741868|PMID:28492532 10048862 CV194896 NM_001854.4(COL11A1):c.652-7_652-6del variant DOID:0111510 Marshall syndrome IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Marshall syndrome PMID:25741868|PMID:28492532 10048862 CV194896 NM_001854.4(COL11A1):c.652-7_652-6del variant DOID:65 connective tissue disease IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 10048863 CV194897 NM_001854.4(COL11A1):c.652-6dup variant DOID:0080046 Stickler syndrome IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Stickler Syndrome, Dominant PMID:25741868|PMID:28492532 10048863 CV194897 NM_001854.4(COL11A1):c.652-6dup variant DOID:0080672 fibrochondrogenesis 1 IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Fibrochondrogenesis 1 PMID:25741868|PMID:28492532 10048863 CV194897 NM_001854.4(COL11A1):c.652-6dup variant DOID:0111510 Marshall syndrome IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Marshall syndrome PMID:25741868|PMID:28492532 10048863 CV194897 NM_001854.4(COL11A1):c.652-6dup variant DOID:65 connective tissue disease IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 10048864 CV194900 NM_002206.3(ITGA7):c.671-5C>A variant DOID:0110639 congenital muscular dystrophy due to integrin alpha-7 deficiency IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, congenital, due to ITGA7 deficiency PMID:28492532 10048865 CV194901 NM_002225.5(IVD):c.550+57A>G variant DOID:14753 isovaleric acidemia IAGP D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Isovaleryl-CoA dehydrogenase deficiency PMID:25741868 10048866 CV194904 NM_002427.4(MMP13):c.772dup (p.Asp258fs) variant DOID:0080030 spondyloepimetaphyseal dysplasia, Missouri type IAGP D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: MMP13-related condition PMID:25741868 10048867 CV194906 NM_002546.4(TNFRSF11B):c.885T>A (p.Leu295=) variant DOID:0081368 Paget's disease of bone 5 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Hyperphosphatasemia with bone disease PMID:25741868|PMID:28492532 10048868 CV194912 NM_003289.4(TPM2):c.493-11_493-8del variant DOID:0111596 distal arthrogryposis type 1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE I PMID:28492532 10048868 CV194912 NM_003289.4(TPM2):c.493-11_493-8del variant DOID:0111597 distal arthrogryposis type 1A IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:28492532 10048869 CV194914 NM_003336.4(UBE2A):c.321A>G (p.Thr107=) variant DOID:0060820 syndromic X-linked intellectual disability Nascimento type IAGP D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: UBE2A-related condition PMID:28492532 10048869 CV194914 NM_003336.4(UBE2A):c.321A>G (p.Thr107=) variant DOID:630 genetic disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10048871 CV194920 NM_004260.4(RECQL4):c.1048_1049del (p.Arg350fs) variant DOID:0050654 Baller-Gerold syndrome IAGP D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Baller-Gerold syndrome PMID:12734318|PMID:12952869|PMID:18716613|PMID:21143835|PMID:25120469|PMID:25741868|PMID:28039508|PMID:28492532 10048871 CV194920 NM_004260.4(RECQL4):c.1048_1049del (p.Arg350fs) variant DOID:0050774 rapadilino syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Radial and patellar hypoplasia PMID:12734318|PMID:12952869|PMID:18716613|PMID:21143835|PMID:25120469|PMID:25741868|PMID:28039508|PMID:28492532 10048871 CV194920 NM_004260.4(RECQL4):c.1048_1049del (p.Arg350fs) variant DOID:9005992 Rothmund-Thomson Syndrome Type 2 IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Rothmund-Thomson syndrome type 2 PMID:12734318|PMID:12952869|PMID:18716613|PMID:21143835|PMID:25120469|PMID:25741868|PMID:28039508|PMID:28492532 10048872 CV194922 NM_004369.4(COL6A3):c.1478T>C (p.Val493Ala) variant DOID:0050663 Bethlem myopathy IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, benign congenital PMID:25741868|PMID:28492532 10048872 CV194922 NM_004369.4(COL6A3):c.1478T>C (p.Val493Ala) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:25741868|PMID:28492532 10048872 CV194922 NM_004369.4(COL6A3):c.1478T>C (p.Val493Ala) variant DOID:0090050 dystonia 27 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dystonia 27 PMID:25741868|PMID:28492532 10048873 CV194925 NM_004565.3(PEX14):c.349G>T (p.Ala117Ser) variant DOID:0080487 peroxisome biogenesis disorder 13A IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 13A PMID:28492532 10048873 CV194925 NM_004565.3(PEX14):c.349G>T (p.Ala117Ser) variant DOID:9006158 Peroxisome Biogenesis Disorder, Complementation Group K IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group K PMID:28492532 10048875 CV194937 NM_170707.4(LMNA):c.886_887insA (p.Arg296fs) variant DOID:0050539 Charcot-Marie-Tooth disease type 2 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:29095976 10048876 CV194943 NM_006182.4(DDR2):c.408T>C (p.His136=) variant DOID:0112196 spondylometaepiphyseal dysplasia, short limb-hand type IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome PMID:25741868|PMID:28492532 10048876 CV194943 NM_006182.4(DDR2):c.408T>C (p.His136=) variant DOID:65 connective tissue disease IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 10048878 CV194951 NM_006912.6(RIT1):c.375C>T (p.Asp125=) variant DOID:0060586 Noonan syndrome 8 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Noonan syndrome 8 PMID:24033266|PMID:25741868|PMID:28492532 10048879 CV194956 NM_013382.7(POMT2):c.652G>A (p.Asp218Asn) variant DOID:0110298 autosomal recessive limb-girdle muscular dystrophy type 2N IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2N PMID:25741868|PMID:26467025|PMID:28492532 10048879 CV194956 NM_013382.7(POMT2):c.652G>A (p.Asp218Asn) variant DOID:0111240 congenital muscular dystrophy-dystroglycanopathy type A2 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 PMID:25741868|PMID:26467025|PMID:28492532 10048880 CV194959 NM_014140.4(SMARCAL1):c.960C>T (p.Ala320=) variant DOID:0060490 Schimke immuno-osseous dysplasia IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Schimke immunoosseous dysplasia PMID:25741868|PMID:28492532 10048880 CV194959 NM_014140.4(SMARCAL1):c.960C>T (p.Ala320=) variant DOID:557 kidney disease IAGP D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney disease PMID:25741868|PMID:28492532 10048881 CV194960 NM_014140.4(SMARCAL1):c.945C>G (p.Ser315Arg) variant DOID:0060490 Schimke immuno-osseous dysplasia IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Schimke immunoosseous dysplasia PMID:25741868|PMID:28492532 10048881 CV194960 NM_014140.4(SMARCAL1):c.945C>G (p.Ser315Arg) variant DOID:1312 focal segmental glomerulosclerosis IAGP D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:25741868|PMID:28492532 10048882 CV194961 NM_014141.6(CNTNAP2):c.551-8dup variant DOID:0090130 cortical dysplasia-focal epilepsy syndrome IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cortical dysplasia-focal epilepsy syndrome PMID:28492532 10048883 CV194975 NM_014946.4(SPAST):c.683-9C>T variant DOID:0110792 hereditary spastic paraplegia 4 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 4, autosomal dominant PMID:28492532 10048884 CV194977 NM_001379286.1(ZNF423):c.1986C>T (p.His662=) variant DOID:0111122 nephronophthisis 14 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Nephronophthisis 14 PMID:25741868|PMID:28492532 10048885 CV194983 NM_001379286.1(ZNF423):c.3291C>T (p.Tyr1097=) variant DOID:0111122 nephronophthisis 14 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Nephronophthisis 14 PMID:25741868|PMID:28492532 10048886 CV194987 NM_015139.3(SLC35D1):c.393-3del variant DOID:0050775 schneckenbecken dysplasia IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Schneckenbecken dysplasia PMID:25741868|PMID:28492532 10048886 CV194987 NM_015139.3(SLC35D1):c.393-3del variant DOID:65 connective tissue disease IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 10048887 CV194988 NM_001077415.3(CRELD1):c.498C>T (p.Tyr166=) variant DOID:9009051 Atrioventricular Septal Defect 2 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: CRELD1-related condition PMID:28492532 10048888 CV194989 NM_016032.4(ZDHHC9):c.487+15A>G variant DOID:0060824 syndromic X-linked intellectual disability Raymond type IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Raymond type PMID:25741868|PMID:28492532 10048889 CV194990 NM_016180.5(SLC45A2):c.1122G>C (p.Leu374Phe) variant DOID:0070098 oculocutaneous albinism type IV IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Oculocutaneous albinism type 4 PMID:25741868|PMID:28492532 10048889 CV194990 NM_016180.5(SLC45A2):c.1122G>C (p.Leu374Phe) variant DOID:2513 basal cell carcinoma IAGP D RGD:405850206 20250917 GWAS_CATALOG Based on the EFO term ID PMID:31174203 10048889 CV194990 NM_016180.5(SLC45A2):c.1122G>C (p.Leu374Phe) variant DOID:3151 skin squamous cell carcinoma IAGP D RGD:405850206 20250917 GWAS_CATALOG Based on the EFO term ID PMID:38182794 10048889 CV194990 NM_016180.5(SLC45A2):c.1122G>C (p.Leu374Phe) variant DOID:3165 skin benign neoplasm IAGP D RGD:405850206 20250917 GWAS_CATALOG Based on the EFO term ID PMID:34594039 10048889 CV194990 NM_016180.5(SLC45A2):c.1122G>C (p.Leu374Phe) variant DOID:8923 skin melanoma IAGP D RGD:405850206 20250917 GWAS_CATALOG Based on the EFO term ID PMID:32341527 10048889 CV194990 NM_016180.5(SLC45A2):c.1122G>C (p.Leu374Phe) variant DOID:9004464 Skin Neoplasms IAGP D RGD:405850206 20250917 GWAS_CATALOG Based on the EFO term ID PMID:34594039 10048889 CV194990 NM_016180.5(SLC45A2):c.1122G>C (p.Leu374Phe) variant DOID:9006017 Skin/Hair/Eye Pigmentation, Variation In, 5 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Skin/hair/eye pigmentation, variation in, 5 PMID:25741868|PMID:28492532 10048890 CV194997 NM_018418.5(SPATA7):c.366A>T (p.Leu122Phe) variant DOID:0110331 Leber congenital amaurosis 3 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 3 PMID:25741868|PMID:28492532 10048891 CV194998 NM_018668.5(VPS33B):c.357G>A (p.Lys119=) variant DOID:0111353 arthrogryposis, renal dysfunction, and cholestasis 1 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1 PMID:25741868|PMID:28492532 10048893 CV195007 NM_001008212.2(OPTN):c.553-5C>T variant DOID:0060203 amyotrophic lateral sclerosis type 12 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 12 PMID:25741868|PMID:26467025|PMID:28492532 10048893 CV195007 NM_001008212.2(OPTN):c.553-5C>T variant DOID:1070 primary open angle glaucoma IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Primary open angle glaucoma PMID:25741868|PMID:26467025|PMID:28492532 10048895 CV195019 NM_024312.5(GNPTAB):c.377T>A (p.Leu126Ter) variant DOID:0080070 mucolipidosis II alpha/beta IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mucolipidosis type II PMID:19617216|PMID:25107912|PMID:28492532|PMID:30882951 10048895 CV195019 NM_024312.5(GNPTAB):c.377T>A (p.Leu126Ter) variant DOID:0080488 mucolipidosis IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Mucolipidosis PMID:19617216|PMID:25107912|PMID:28492532|PMID:30882951 10048896 CV195021 NM_205861.3(DHDDS):c.324-10C>T variant DOID:0110352 retinitis pigmentosa 59 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 10048897 CV195022 NM_025074.7(FRAS1):c.370C>T (p.Arg124Ter) variant DOID:0090001 Fraser syndrome IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Cryptophthalmos with other malformations PMID:12766769|PMID:18671281|PMID:22029163|PMID:25741868|PMID:28492532|PMID:29261186 10048897 CV195022 NM_025074.7(FRAS1):c.370C>T (p.Arg124Ter) variant DOID:0111405 Fraser syndrome 1 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fraser syndrome 1 PMID:12766769|PMID:18671281|PMID:22029163|PMID:25741868|PMID:28492532|PMID:29261186 10048898 CV195024 NM_031433.4(MFRP):c.641+9C>T variant DOID:0060837 isolated microphthalmia 5 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen PMID:25741868|PMID:28492532 10048900 CV195031 NM_138694.4(PKHD1):c.325G>A (p.Ala109Thr) variant DOID:0080212 polycystic kidney disease 4 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: PKHD1-related condition PMID:28492532 10048900 CV195031 NM_138694.4(PKHD1):c.325G>A (p.Ala109Thr) variant DOID:0080322 polycystic kidney disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease PMID:28492532 10048900 CV195031 NM_138694.4(PKHD1):c.325G>A (p.Ala109Thr) variant DOID:0110861 autosomal recessive polycystic kidney disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE, INFANTILE, TYPE I PMID:28492532 10048900 CV195031 NM_138694.4(PKHD1):c.325G>A (p.Ala109Thr) variant DOID:898 autosomal dominant polycystic kidney disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1 PMID:28492532 10048902 CV195035 NM_001128225.3(SLC39A13):c.539C>G (p.Ala180Gly) variant DOID:0080739 Ehlers-Danlos syndrome spondylodysplastic type 3 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Spondylocheirodysplasia, Ehlers-Danlos syndrome-like PMID:28492532 10048903 CV195045 NM_000325.6(PITX2):c.562G>A (p.Ala188Thr) variant DOID:0050786 iridogoniodysgenesis syndrome IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Iridogoniodysgenesis syndrome PMID:25741868|PMID:28492532 10048903 CV195045 NM_000325.6(PITX2):c.562G>A (p.Ala188Thr) variant DOID:0060673 Peters anomaly IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis PMID:25741868|PMID:28492532 10048903 CV195045 NM_000325.6(PITX2):c.562G>A (p.Ala188Thr) variant DOID:0080609 anterior segment dysgenesis 4 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Anterior segment dysgenesis 4 PMID:25741868|PMID:28492532 10048903 CV195045 NM_000325.6(PITX2):c.562G>A (p.Ala188Thr) variant DOID:0080610 anterior segment dysgenesis 5 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5 PMID:25741868|PMID:28492532 10048903 CV195045 NM_000325.6(PITX2):c.562G>A (p.Ala188Thr) variant DOID:0110120 Axenfeld-Rieger syndrome type 1 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 PMID:25741868|PMID:28492532 10048903 CV195045 NM_000325.6(PITX2):c.562G>A (p.Ala188Thr) variant DOID:0111548 ring dermoid of cornea IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Ring dermoid of cornea PMID:25741868|PMID:28492532 10048903 CV195045 NM_000325.6(PITX2):c.562G>A (p.Ala188Thr) variant DOID:83 cataract IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Cataract PMID:25741868|PMID:28492532 10048905 CV195048 NM_002617.4(PEX10):c.820A>G (p.Thr274Ala) variant DOID:0080481 peroxisome biogenesis disorder 6A IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 6A PMID:15542397|PMID:19127411|PMID:24033266|PMID:25741868|PMID:28492532 10048905 CV195048 NM_002617.4(PEX10):c.820A>G (p.Thr274Ala) variant DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:15542397|PMID:19127411|PMID:24033266|PMID:25741868|PMID:28492532 10048905 CV195048 NM_002617.4(PEX10):c.820A>G (p.Thr274Ala) variant DOID:905 Zellweger syndrome IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Zellweger Spectrum PMID:15542397|PMID:19127411|PMID:24033266|PMID:25741868|PMID:28492532 10048907 CV195052 NM_172107.4(KCNQ2):c.793G>A (p.Ala265Thr) variant DOID:0080462 developmental and epileptic encephalopathy 7 IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 7 PMID:22275249|PMID:22926866|PMID:23692823|PMID:24107868|PMID:24318194|PMID:25741868|PMID:27535030|PMID:27602407|PMID:27779742|PMID:28492532|PMID:29056246|PMID:31552204 10048907 CV195052 NM_172107.4(KCNQ2):c.793G>A (p.Ala265Thr) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:22275249|PMID:22926866|PMID:23692823|PMID:24107868|PMID:24318194|PMID:25741868|PMID:27535030|PMID:27602407|PMID:27779742|PMID:28492532|PMID:29056246|PMID:31552204 10048907 CV195052 NM_172107.4(KCNQ2):c.793G>A (p.Ala265Thr) variant DOID:1826 epilepsy IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Seizure PMID:22275249|PMID:22926866|PMID:23692823|PMID:24107868|PMID:24318194|PMID:25741868|PMID:27535030|PMID:27602407|PMID:27779742|PMID:28492532|PMID:29056246|PMID:31552204 10048908 CV195055 NM_181507.2(HPS5):c.345G>A (p.Met115Ile) variant DOID:0060543 Hermansky-Pudlak syndrome 5 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 5 PMID:24033266|PMID:25741868|PMID:28492532 10048908 CV195055 NM_181507.2(HPS5):c.345G>A (p.Met115Ile) variant DOID:1588 thrombocytopenia IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:24033266|PMID:25741868|PMID:28492532 10048908 CV195055 NM_181507.2(HPS5):c.345G>A (p.Met115Ile) variant DOID:2213 hemorrhagic disease IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Abnormal bleeding PMID:24033266|PMID:25741868|PMID:28492532 10048908 CV195055 NM_181507.2(HPS5):c.345G>A (p.Met115Ile) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 10048909 CV195056 NM_182894.3(VSX2):c.871G>A (p.Asp291Asn) variant DOID:0060839 isolated microphthalmia 2 IAGP D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Microphthalmia, isolated 2 PMID:25741868|PMID:28492532 10048909 CV195056 NM_182894.3(VSX2):c.871G>A (p.Asp291Asn) variant DOID:9005041 Isolated Microphthalmia with Coloboma 3 IAGP D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 3 PMID:25741868|PMID:28492532 10048910 CV195057 NM_182894.3(VSX2):c.831G>A (p.Leu277=) variant DOID:0060839 isolated microphthalmia 2 IAGP D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Microphthalmia, isolated 2 PMID:25741868|PMID:28492532 10048910 CV195057 NM_182894.3(VSX2):c.831G>A (p.Leu277=) variant DOID:10629 microphthalmia IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Microphthalmia PMID:25741868|PMID:28492532 10048910 CV195057 NM_182894.3(VSX2):c.831G>A (p.Leu277=) variant DOID:9005041 Isolated Microphthalmia with Coloboma 3 IAGP D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 3 PMID:25741868|PMID:28492532 10048911 CV195061 NM_198525.3(KIF7):c.1266C>G (p.Leu422=) variant DOID:9250 acrocallosal syndrome IAGP D RGD:8554872 20190312 ClinVar ClinVar Annotator: match by term: Acrocallosal syndrome, Schinzel type PMID:25741868|PMID:28492532 10048912 CV195066 NM_203475.3(PORCN):c.633C>T (p.Gly211=) variant DOID:630 genetic disease IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10048915 CV195073 NM_004006.3(DMD):c.7247dup (p.Leu2416fs) variant DOID:11723 Duchenne muscular dystrophy IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:16770791|PMID:25007885|PMID:28492532 10048917 CV195079 NM_000088.4(COL1A1):c.4249-12G>A variant DOID:0080727 Ehlers-Danlos syndrome arthrochalasia type 1 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, arthrochalasia type PMID:25741868|PMID:26467025|PMID:28492532 10048917 CV195079 NM_000088.4(COL1A1):c.4249-12G>A variant DOID:0110334 osteogenesis imperfecta type 1 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type I PMID:25741868|PMID:26467025|PMID:28492532 10048917 CV195079 NM_000088.4(COL1A1):c.4249-12G>A variant DOID:12347 osteogenesis imperfecta IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:25741868|PMID:26467025|PMID:28492532 10048917 CV195079 NM_000088.4(COL1A1):c.4249-12G>A variant DOID:4257 Caffey disease IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Infantile cortical hyperostosis PMID:25741868|PMID:26467025|PMID:28492532 10048921 CV195087 NM_005045.4(RELN):c.8120-9T>C variant DOID:0060751 familial temporal lobe epilepsy 7 IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Familial temporal lobe epilepsy 7 PMID:25741868|PMID:28492532 10048921 CV195087 NM_005045.4(RELN):c.8120-9T>C variant DOID:0060902 Norman-Roberts syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Norman-Roberts syndrome PMID:25741868|PMID:28492532 10048922 CV195091 NM_080680.3(COL11A2):c.3699C>T (p.Arg1233=) variant DOID:0080026 otospondylomegaepiphyseal dysplasia, autosomal recessive IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Otospondylomegaepiphyseal dysplasia, autosomal recessive PMID:24033266|PMID:25741868|PMID:28492532 10048922 CV195091 NM_080680.3(COL11A2):c.3699C>T (p.Arg1233=) variant DOID:0080046 Stickler syndrome IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Stickler Syndrome, Dominant PMID:24033266|PMID:25741868|PMID:28492532 10048922 CV195091 NM_080680.3(COL11A2):c.3699C>T (p.Arg1233=) variant DOID:0080673 fibrochondrogenesis 2 IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Fibrochondrogenesis 2 PMID:24033266|PMID:25741868|PMID:28492532 10048922 CV195091 NM_080680.3(COL11A2):c.3699C>T (p.Arg1233=) variant DOID:0080677 otospondylomegaepiphyseal dysplasia, autosomal dominant IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Otospondylomegaepiphyseal dysplasia, autosomal dominant PMID:24033266|PMID:25741868|PMID:28492532 10048922 CV195091 NM_080680.3(COL11A2):c.3699C>T (p.Arg1233=) variant DOID:65 connective tissue disease IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:24033266|PMID:25741868|PMID:28492532 10048923 CV195093 NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) variant DOID:0050439 Usher syndrome IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:20507924|PMID:21151602|PMID:22004887|PMID:22135276|PMID:22334370|PMID:24033266|PMID:25097241|PMID:25472526|PMID:25649381|PMID:25741868|PMID:25999674|PMID:26667666|PMID:28041643|PMID:28492532|PMID:28559085|PMID:29953849|PMID:31456290|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32176120|PMID:32326409|PMID:32531858|PMID:32581362|PMID:33258288|PMID:33576794|PMID:33737949|PMID:33749171|PMID:34758253|PMID:34906470|PMID:35266249|PMID:36011334|PMID:36672815|PMID:36819107|PMID:36909829 10048923 CV195093 NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) variant DOID:0110360 retinitis pigmentosa 39 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 39 PMID:20507924|PMID:21151602|PMID:22004887|PMID:22135276|PMID:22334370|PMID:24033266|PMID:25097241|PMID:25472526|PMID:25649381|PMID:25741868|PMID:25999674|PMID:26667666|PMID:28041643|PMID:28492532|PMID:28559085|PMID:29953849|PMID:31456290|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32176120|PMID:32326409|PMID:32531858|PMID:32581362|PMID:33258288|PMID:33576794|PMID:33737949|PMID:33749171|PMID:34758253|PMID:34906470|PMID:35266249|PMID:36011334|PMID:36672815|PMID:36819107|PMID:36909829 10048923 CV195093 NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) variant DOID:0110838 Usher syndrome type 2A IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2A PMID:20507924|PMID:21151602|PMID:22004887|PMID:22135276|PMID:22334370|PMID:24033266|PMID:25097241|PMID:25472526|PMID:25649381|PMID:25741868|PMID:25999674|PMID:26667666|PMID:28041643|PMID:28492532|PMID:28559085|PMID:29953849|PMID:31456290|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32176120|PMID:32326409|PMID:32531858|PMID:32581362|PMID:33258288|PMID:33576794|PMID:33737949|PMID:33749171|PMID:34758253|PMID:34906470|PMID:35266249|PMID:36011334|PMID:36672815|PMID:36819107|PMID:36909829 10048923 CV195093 NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:20507924|PMID:21151602|PMID:22004887|PMID:22135276|PMID:22334370|PMID:24033266|PMID:25097241|PMID:25472526|PMID:25649381|PMID:25741868|PMID:25999674|PMID:26667666|PMID:28041643|PMID:28492532|PMID:28559085|PMID:29953849|PMID:31456290|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32176120|PMID:32326409|PMID:32531858|PMID:32581362|PMID:33258288|PMID:33576794|PMID:33737949|PMID:33749171|PMID:34758253|PMID:34906470|PMID:35266249|PMID:36011334|PMID:36672815|PMID:36819107|PMID:36909829 10048923 CV195093 NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:20507924|PMID:21151602|PMID:22004887|PMID:22135276|PMID:22334370|PMID:24033266|PMID:25097241|PMID:25472526|PMID:25649381|PMID:25741868|PMID:25999674|PMID:26667666|PMID:28041643|PMID:28492532|PMID:28559085|PMID:29953849|PMID:31456290|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32176120|PMID:32326409|PMID:32531858|PMID:32581362|PMID:33258288|PMID:33576794|PMID:33737949|PMID:33749171|PMID:34758253|PMID:34906470|PMID:35266249|PMID:36011334|PMID:36672815|PMID:36819107|PMID:36909829 10048925 CV195109 NM_001844.5(COL2A1):c.4104C>T (p.Pro1368=) variant DOID:0080676 Stickler syndrome 1 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Arthroophthalmopathy, hereditary progressive PMID:25741868|PMID:28492532 10048925 CV195109 NM_001844.5(COL2A1):c.4104C>T (p.Pro1368=) variant DOID:65 connective tissue disease IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disease PMID:25741868|PMID:28492532 10048927 CV195116 NM_182961.4(SYNE1):c.8164G>A (p.Val2722Ile) variant DOID:0070249 autosomal dominant Emery-Dreifuss muscular dystrophy 4 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant PMID:25741868|PMID:26467025|PMID:28492532 10048927 CV195116 NM_182961.4(SYNE1):c.8164G>A (p.Val2722Ile) variant DOID:0111618 autosomal recessive spinocerebellar ataxia 8 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 PMID:25741868|PMID:26467025|PMID:28492532 10048928 CV195120 NM_000093.5(COL5A1):c.4184del (p.Pro1395fs) variant DOID:9003323 Multifocal Fibromuscular Dysplasia IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: COL5A1-related condition 10048930 CV195126 NM_003482.4(KMT2D):c.16599G>A (p.Arg5533=) variant DOID:0060473 Kabuki syndrome IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Kabuki syndrome PMID:25741868|PMID:28492532 10048931 CV195139 NM_001369.3(DNAH5):c.9355A>G (p.Lys3119Glu) variant DOID:0110599 primary ciliary dyskinesia 3 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 3 PMID:25741868|PMID:28492532 10048931 CV195139 NM_001369.3(DNAH5):c.9355A>G (p.Lys3119Glu) variant DOID:9562 primary ciliary dyskinesia IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:25741868|PMID:28492532 10048933 CV195148 NM_000426.4(LAMA2):c.7810C>T (p.Arg2604Ter) variant DOID:0061132 autosomal recessive limb-girdle muscular dystrophy type 23 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, autosomal recessive 23 PMID:18700894|PMID:24611677|PMID:25741868|PMID:28492532|PMID:30301903|PMID:32904964 10048933 CV195148 NM_000426.4(LAMA2):c.7810C>T (p.Arg2604Ter) variant DOID:0110636 congenital merosin-deficient muscular dystrophy 1A IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Merosin deficient congenital muscular dystrophy PMID:18700894|PMID:24611677|PMID:25741868|PMID:28492532|PMID:30301903|PMID:32904964 10048934 CV195150 NM_001854.4(COL11A1):c.4185C>T (p.Val1395=) variant DOID:0080672 fibrochondrogenesis 1 IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Fibrochondrogenesis 1 PMID:25741868|PMID:28492532 10048934 CV195150 NM_001854.4(COL11A1):c.4185C>T (p.Val1395=) variant DOID:0080675 Stickler syndrome 2 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Stickler syndrome type 2 PMID:25741868|PMID:28492532 10048934 CV195150 NM_001854.4(COL11A1):c.4185C>T (p.Val1395=) variant DOID:65 connective tissue disease IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 10048935 CV195172 NM_004006.3(DMD):c.8656C>T (p.Gln2886Ter) variant DOID:11723 Duchenne muscular dystrophy IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:17880784|PMID:28492532 10048936 CV195174 NM_152564.5(VPS13B):c.11195G>A (p.Arg3732Gln) variant DOID:0111590 Cohen syndrome IAGP D RGD:8554872 20200407 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:25741868|PMID:26467025|PMID:28492532 10048936 CV195174 NM_152564.5(VPS13B):c.11195G>A (p.Arg3732Gln) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 10048936 CV195174 NM_152564.5(VPS13B):c.11195G>A (p.Arg3732Gln) variant DOID:9001162 Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness PMID:25741868|PMID:26467025|PMID:28492532 10048937 CV195180 NM_001854.4(COL11A1):c.4416C>A (p.Asp1472Glu) variant DOID:0080672 fibrochondrogenesis 1 IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Fibrochondrogenesis 1 PMID:25741868|PMID:28492532 10048937 CV195180 NM_001854.4(COL11A1):c.4416C>A (p.Asp1472Glu) variant DOID:0080675 Stickler syndrome 2 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Stickler syndrome type 2 PMID:25741868|PMID:28492532 10048937 CV195180 NM_001854.4(COL11A1):c.4416C>A (p.Asp1472Glu) variant DOID:65 connective tissue disease IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 10048940 CV195189 NM_000019.4(ACAT1):c.436-4G>A variant DOID:14723 beta-ketothiolase deficiency IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Beta ketothiolase deficiency PMID:28492532 10048941 CV195190 NM_000019.4(ACAT1):c.455G>C (p.Gly152Ala) variant DOID:14723 beta-ketothiolase deficiency IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deficiency of acetyl-CoA acetyltransferase PMID:11914035|PMID:15128923|PMID:25741868|PMID:28255778|PMID:28492532|PMID:31268215|PMID:7749408 10048942 CV195191 NM_000019.4(ACAT1):c.473A>G (p.Asn158Ser) variant DOID:14723 beta-ketothiolase deficiency IAGP D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Deficiency of acetyl-CoA acetyltransferase PMID:17236799|PMID:21669895|PMID:25741868|PMID:27748876|PMID:28492532|PMID:31268215|PMID:7749408 10048942 CV195191 NM_000019.4(ACAT1):c.473A>G (p.Asn158Ser) variant DOID:630 genetic disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17236799|PMID:21669895|PMID:25741868|PMID:27748876|PMID:28492532|PMID:31268215|PMID:7749408 10048943 CV195195 NM_000030.3(AGXT):c.654G>A (p.Ser218=) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:17460142|PMID:25741868|PMID:28492532 10048944 CV195198 NM_000049.4(ASPA):c.831C>T (p.Thr277=) variant DOID:3613 Canavan disease IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Spongy degeneration of central nervous system PMID:25741868|PMID:28492532 10048944 CV195198 NM_000049.4(ASPA):c.831C>T (p.Thr277=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10048947 CV195203 NM_000101.4(CYBA):c.521T>C (p.Val174Ala) variant DOID:0070193 autosomal recessive chronic granulomatous disease 4 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative PMID:25741868|PMID:28492532 10048947 CV195203 NM_000101.4(CYBA):c.521T>C (p.Val174Ala) variant DOID:3265 chronic granulomatous disease IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Chronic granulomatous disease PMID:25741868|PMID:28492532 10048949 CV195207 NM_000147.5(FUCA1):c.1125G>A (p.Trp375Ter) variant DOID:14500 fucosidosis IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Fucosidosis PMID:10094192|PMID:25741868|PMID:28492532 10048950 CV195212 NM_000163.5(GHR):c.558A>G (p.Gly186=) variant DOID:9006324 Isolated Growth Hormone Deficiency, Partial IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL PMID:25741868|PMID:26467025|PMID:28492532 10048950 CV195212 NM_000163.5(GHR):c.558A>G (p.Gly186=) variant DOID:9007303 Idiopathic Short Stature, Autosomal IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL PMID:25741868|PMID:26467025|PMID:28492532 10048950 CV195212 NM_000163.5(GHR):c.558A>G (p.Gly186=) variant DOID:9521 Laron syndrome IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Laron dwarfism PMID:25741868|PMID:26467025|PMID:28492532 10048951 CV195214 NM_000169.3(GLA):c.982G>C (p.Gly328Arg) variant DOID:14499 Fabry disease IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Angiokeratoma corporis diffusum PMID:25741868|PMID:26415523 10048952 CV195218 NM_000194.3(HPRT1):c.480C>T (p.Val160=) variant DOID:0060699 familial hypocalciuric hypercalcemia IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis PMID:28492532 10048952 CV195218 NM_000194.3(HPRT1):c.480C>T (p.Val160=) variant DOID:0112127 HRPT-related hyperuricemia IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency PMID:28492532 10048954 CV195223 NM_000262.3(NAGA):c.598-15C>T variant DOID:0112318 Schindler disease type 1 IAGP D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Alpha-N-acetylgalactosaminidase deficiency type 1 PMID:25741868|PMID:28492532 10048954 CV195223 NM_000262.3(NAGA):c.598-15C>T variant DOID:0112319 Kanzaki disease IAGP D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Alpha-N-acetylgalactosaminidase deficiency type 2 PMID:25741868|PMID:28492532 10048955 CV195228 NM_000293.3(PHKB):c.555G>T (p.Met185Ile) variant DOID:0111041 glycogen storage disease IXB IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXb PMID:17689125|PMID:25741868|PMID:28492532 10048956 CV195230 NM_000306.4(POU1F1):c.666-5G>A variant DOID:0061019 combined or isolated pituitary hormone deficiency 1 IAGP D RGD:8554872 20240326 ClinVar ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1 PMID:25741868|PMID:26467025|PMID:28492532 10048956 CV195230 NM_000306.4(POU1F1):c.666-5G>A variant DOID:0061020 combined pituitary hormone deficiency 2 IAGP D RGD:8554872 20240326 ClinVar ClinVar Annotator: match by term: Combined Pituitary Hormone Deficiency, Recessive PMID:25741868|PMID:26467025|PMID:28492532 10048956 CV195230 NM_000306.4(POU1F1):c.666-5G>A variant DOID:9255 frontotemporal dementia IAGP D RGD:8554872 20240326 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:25741868|PMID:26467025|PMID:28492532 10048957 CV195231 NM_000388.4(CASR):c.2610G>A (p.Glu870=) variant DOID:0060699 familial hypocalciuric hypercalcemia IAGP D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:16497624|PMID:17320849|PMID:17698911|PMID:18680227|PMID:20164288|PMID:25741868|PMID:26467025|PMID:28492532 10048957 CV195231 NM_000388.4(CASR):c.2610G>A (p.Glu870=) variant DOID:0060700 familial hypocalciuric hypercalcemia 1 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Hypocalciuric hypercalcemia, familial, type 1 PMID:16497624|PMID:17320849|PMID:17698911|PMID:18680227|PMID:20164288|PMID:25741868|PMID:26467025|PMID:28492532 10048957 CV195231 NM_000388.4(CASR):c.2610G>A (p.Glu870=) variant DOID:0090107 autosomal dominant hypocalcemia 1 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Hypocalcemia, autosomal dominant 1 PMID:16497624|PMID:17320849|PMID:17698911|PMID:18680227|PMID:20164288|PMID:25741868|PMID:26467025|PMID:28492532 10048957 CV195231 NM_000388.4(CASR):c.2610G>A (p.Glu870=) variant DOID:0111387 familial isolated hypoparathyroidism IAGP D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism familial isolated PMID:16497624|PMID:17320849|PMID:17698911|PMID:18680227|PMID:20164288|PMID:25741868|PMID:26467025|PMID:28492532 10048957 CV195231 NM_000388.4(CASR):c.2610G>A (p.Glu870=) variant DOID:11202 primary hyperparathyroidism IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Familial benign hypercalcemia PMID:16497624|PMID:17320849|PMID:17698911|PMID:18680227|PMID:20164288|PMID:25741868|PMID:26467025|PMID:28492532 10048957 CV195231 NM_000388.4(CASR):c.2610G>A (p.Glu870=) variant DOID:9000874 Hyperparathyroidism, Neonatal Severe Primary IAGP D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Neonatal severe hyperparathyroidism PMID:16497624|PMID:17320849|PMID:17698911|PMID:18680227|PMID:20164288|PMID:25741868|PMID:26467025|PMID:28492532 10048958 CV195232 NM_000388.4(CASR):c.2968A>G (p.Arg990Gly) variant DOID:0060699 familial hypocalciuric hypercalcemia IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:15598778|PMID:1706284|PMID:25741868|PMID:26467025|PMID:28492532 10048958 CV195232 NM_000388.4(CASR):c.2968A>G (p.Arg990Gly) variant DOID:0060700 familial hypocalciuric hypercalcemia 1 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Hypocalciuric hypercalcemia, familial, type 1 PMID:15598778|PMID:1706284|PMID:25741868|PMID:26467025|PMID:28492532 10048958 CV195232 NM_000388.4(CASR):c.2968A>G (p.Arg990Gly) variant DOID:0090107 autosomal dominant hypocalcemia 1 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Hypocalcemia, autosomal dominant 1 PMID:15598778|PMID:1706284|PMID:25741868|PMID:26467025|PMID:28492532 10048958 CV195232 NM_000388.4(CASR):c.2968A>G (p.Arg990Gly) variant DOID:0111387 familial isolated hypoparathyroidism IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Familial isolated hypoparathyroidism PMID:15598778|PMID:1706284|PMID:25741868|PMID:26467025|PMID:28492532 10048958 CV195232 NM_000388.4(CASR):c.2968A>G (p.Arg990Gly) variant DOID:11202 primary hyperparathyroidism IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Familial benign hypercalcemia PMID:15598778|PMID:1706284|PMID:25741868|PMID:26467025|PMID:28492532 10048958 CV195232 NM_000388.4(CASR):c.2968A>G (p.Arg990Gly) variant DOID:9000874 Hyperparathyroidism, Neonatal Severe Primary IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Neonatal severe hyperparathyroidism PMID:15598778|PMID:1706284|PMID:25741868|PMID:26467025|PMID:28492532 10048959 CV195233 NM_000388.4(CASR):c.2730C>A (p.Pro910=) variant DOID:0060699 familial hypocalciuric hypercalcemia IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia PMID:25741868|PMID:26467025|PMID:28492532 10048959 CV195233 NM_000388.4(CASR):c.2730C>A (p.Pro910=) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:26467025|PMID:28492532 10048960 CV195238 NM_000404.4(GLB1):c.602G>A (p.Arg201His) variant DOID:0080501 GM1 gangliosidosis type 2 IAGP D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: GM1 gangliosidosis type 2 PMID:10737981|PMID:11504597|PMID:11511921|PMID:16314480|PMID:16538002|PMID:16617000|PMID:16941474|PMID:17309651|PMID:17664528|PMID:19472408|PMID:20175788|PMID:21520340|PMID:22675082|PMID:23430499|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9203065 10048960 CV195238 NM_000404.4(GLB1):c.602G>A (p.Arg201His) variant DOID:0080502 GM1 gangliosidosis type 1 IAGP D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Infantile GM1 gangliosidosis PMID:10737981|PMID:11504597|PMID:11511921|PMID:16314480|PMID:16538002|PMID:16617000|PMID:16941474|PMID:17309651|PMID:17664528|PMID:19472408|PMID:20175788|PMID:21520340|PMID:22675082|PMID:23430499|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9203065 10048960 CV195238 NM_000404.4(GLB1):c.602G>A (p.Arg201His) variant DOID:0111392 mucopolysaccharidosis type IVB IAGP D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-B PMID:10737981|PMID:11504597|PMID:11511921|PMID:16314480|PMID:16538002|PMID:16617000|PMID:16941474|PMID:17309651|PMID:17664528|PMID:19472408|PMID:20175788|PMID:21520340|PMID:22675082|PMID:23430499|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9203065 10048960 CV195238 NM_000404.4(GLB1):c.602G>A (p.Arg201His) variant DOID:3322 GM1 gangliosidosis IAGP D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: GM1 gangliosidosis PMID:10737981|PMID:11504597|PMID:11511921|PMID:16314480|PMID:16538002|PMID:16617000|PMID:16941474|PMID:17309651|PMID:17664528|PMID:19472408|PMID:20175788|PMID:21520340|PMID:22675082|PMID:23430499|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9203065 10048961 CV195240 NM_000414.4(HSD17B4):c.317G>A (p.Arg106His) variant DOID:0090031 D-bifunctional protein deficiency IAGP D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Bifunctional peroxisomal enzyme deficiency PMID:24033266|PMID:25741868|PMID:28492532 10048961 CV195240 NM_000414.4(HSD17B4):c.317G>A (p.Arg106His) variant DOID:9003326 Perrault Syndrome 1 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Perrault syndrome 1 PMID:24033266|PMID:25741868|PMID:28492532 10048962 CV195243 NM_000443.4(ABCB4):c.504C>T (p.Asn168=) variant DOID:0070223 progressive familial intrahepatic cholestasis 3 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Low Gamma-GT Familial Intrahepatic Cholestasis PMID:25741868|PMID:28492532 10048962 CV195243 NM_000443.4(ABCB4):c.504C>T (p.Asn168=) variant DOID:0070229 intrahepatic cholestasis of pregnancy 3 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cholestasis, intrahepatic, of pregnancy, 3 PMID:25741868|PMID:28492532 10048963 CV195245 NM_201384.3(PLEC):c.378T>G (p.Ala126=) variant DOID:0060736 epidermolysis bullosa simplex Ogna type IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Ogna type PMID:25741868|PMID:26467025|PMID:28492532 10048963 CV195245 NM_201384.3(PLEC):c.378T>G (p.Ala126=) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy PMID:25741868|PMID:26467025|PMID:28492532 10048963 CV195245 NM_201384.3(PLEC):c.378T>G (p.Ala126=) variant DOID:0110285 autosomal recessive limb-girdle muscular dystrophy type 2Q IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17 PMID:25741868|PMID:26467025|PMID:28492532 10048963 CV195245 NM_201384.3(PLEC):c.378T>G (p.Ala126=) variant DOID:9001254 Epidermolysis Bullosa Simplex 5D with Nail Dystrophy IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy PMID:25741868|PMID:26467025|PMID:28492532 10048963 CV195245 NM_201384.3(PLEC):c.378T>G (p.Ala126=) variant DOID:9003881 Epidermolysis Bullosa Simplex 5C with Pyloric Atresia IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with pyloric atresia PMID:25741868|PMID:26467025|PMID:28492532 10048964 CV195248 NM_000512.5(GALNS):c.599C>T (p.Thr200Met) variant DOID:0111391 mucopolysaccharidosis IVA IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A PMID:25741868|PMID:28492532 10048967 CV195256 NM_000543.5(SMPD1):c.1492C>T (p.Arg498Cys) variant DOID:0070111 Niemann-Pick disease type A IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis PMID:12369017|PMID:1391960|PMID:17011332|PMID:18815062|PMID:1885770|PMID:2023926|PMID:23356216|PMID:25741868|PMID:25834946|PMID:27725636|PMID:28492532 10048967 CV195256 NM_000543.5(SMPD1):c.1492C>T (p.Arg498Cys) variant DOID:0070112 Niemann-Pick disease type B IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis PMID:12369017|PMID:1391960|PMID:17011332|PMID:18815062|PMID:1885770|PMID:2023926|PMID:23356216|PMID:25741868|PMID:25834946|PMID:27725636|PMID:28492532 10048967 CV195256 NM_000543.5(SMPD1):c.1492C>T (p.Arg498Cys) variant DOID:14504 Niemann-Pick disease IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease PMID:12369017|PMID:1391960|PMID:17011332|PMID:18815062|PMID:1885770|PMID:2023926|PMID:23356216|PMID:25741868|PMID:25834946|PMID:27725636|PMID:28492532 10048968 CV195260 NM_000553.6(WRN):c.561A>G (p.Lys187=) variant DOID:5688 Werner syndrome IAGP D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Werner syndrome PMID:20301687|PMID:23936869|PMID:25741868|PMID:28492532 10048970 CV195266 NM_000843.4(GRM6):c.1308T>C (p.Thr436=) variant DOID:0110865 congenital stationary night blindness 1B IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness, type 1B PMID:25741868|PMID:28492532 10048972 CV195268 NM_000843.4(GRM6):c.1307C>T (p.Thr436Ile) variant DOID:0110865 congenital stationary night blindness 1B IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness 1B PMID:25741868|PMID:28492532 10048973 CV195269 NM_000875.5(IGF1R):c.1310G>A (p.Arg437His) variant DOID:9000145 IGF1R-RELATED DISORDER IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: IGF-I RESISTANCE PMID:18316725|PMID:25741868|PMID:28492532 10048974 CV195270 NM_001003722.2(GLE1):c.727A>G (p.Ile243Val) variant DOID:0060559 lethal congenital contracture syndrome 1 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Lethal congenital contracture syndrome 1 PMID:25741868|PMID:28492532 10048974 CV195270 NM_001003722.2(GLE1):c.727A>G (p.Ile243Val) variant DOID:9003573 Congenital Arthrogryposis with Anterior Horn Cell Disease IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Lethal arthrogryposis with anterior horn cell disease PMID:25741868|PMID:28492532 10048975 CV195272 NM_002529.4(NTRK1):c.710C>T (p.Thr237Met) variant DOID:0070146 hereditary sensory neuropathy type 4 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Hereditary Sensory and Autonomic Neuropathy Type IV PMID:25741868|PMID:28492532 10048976 CV195277 NM_001044385.3(TMEM237):c.348G>A (p.Ala116=) variant DOID:0110983 Joubert syndrome 14 IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Joubert syndrome 14 PMID:25741868|PMID:28492532 10048977 CV195281 NM_001101426.4(CRPPA):c.836-19dup variant DOID:0050557 congenital muscular dystrophy IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related PMID:28492532 10048977 CV195281 NM_001101426.4(CRPPA):c.836-19dup variant DOID:0111234 congenital muscular dystrophy-dystroglycanopathy type A7 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 PMID:28492532 10048979 CV195290 NM_001184880.2(PCDH19):c.3400A>C (p.Asn1134His) variant DOID:0060848 developmental and epileptic encephalopathy 9 IAGP D RGD:8554872 20201015 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 9 PMID:28492532 10048979 CV195290 NM_001184880.2(PCDH19):c.3400A>C (p.Asn1134His) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10048980 CV195293 NM_001429.4(EP300):c.1283-8T>C variant DOID:1933 Rubinstein-Taybi syndrome IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:28492532 10048982 CV195298 NM_001852.4(COL9A2):c.312C>T (p.Pro104=) variant DOID:0070298 multiple epiphyseal dysplasia 2 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, 2 PMID:25741868|PMID:28492532 10048984 CV195306 NM_002180.3(IGHMBP2):c.741C>T (p.Ala247=) variant DOID:0111064 autosomal recessive distal hereditary motor neuronopathy 1 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy, distal, autosomal recessive, 1 PMID:25741868|PMID:26467025|PMID:28492532 10048984 CV195306 NM_002180.3(IGHMBP2):c.741C>T (p.Ala247=) variant DOID:10595 Charcot-Marie-Tooth disease IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:25741868|PMID:26467025|PMID:28492532 10048984 CV195306 NM_002180.3(IGHMBP2):c.741C>T (p.Ala247=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 10048985 CV195309 NM_002381.5(MATN3):c.1169-10G>A variant DOID:0070299 multiple epiphyseal dysplasia 5 IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: MICROEPIPHYSEAL DYSPLASIA, BILATERAL HEREDITARY PMID:25741868|PMID:28492532 10048985 CV195309 NM_002381.5(MATN3):c.1169-10G>A variant DOID:65 connective tissue disease IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disease PMID:25741868|PMID:28492532 10048986 CV195317 NM_003036.4(SKI):c.1851G>A (p.Glu617=) variant DOID:0060481 Goldberg-Shprintzen syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 10048986 CV195317 NM_003036.4(SKI):c.1851G>A (p.Glu617=) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:28492532 10048986 CV195317 NM_003036.4(SKI):c.1851G>A (p.Glu617=) variant DOID:9007185 Shprintzen-Goldberg Craniosynostosis IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:28492532 10048987 CV195318 NM_001032221.6(STXBP1):c.364C>T (p.Arg122Ter) variant DOID:0060470 salt and pepper syndrome IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Infantile epilepsy syndrome PMID:20887364|PMID:22612257|PMID:25741868|PMID:25758715|PMID:25818041|PMID:26384463|PMID:26865513|PMID:27779742|PMID:28492532|PMID:30185235|PMID:30842647 10048987 CV195318 NM_001032221.6(STXBP1):c.364C>T (p.Arg122Ter) variant DOID:0080436 developmental and epileptic encephalopathy 4 IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 4 PMID:20887364|PMID:22612257|PMID:25741868|PMID:25758715|PMID:25818041|PMID:26384463|PMID:26865513|PMID:27779742|PMID:28492532|PMID:30185235|PMID:30842647 10048987 CV195318 NM_001032221.6(STXBP1):c.364C>T (p.Arg122Ter) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:20887364|PMID:22612257|PMID:25741868|PMID:25758715|PMID:25818041|PMID:26384463|PMID:26865513|PMID:27779742|PMID:28492532|PMID:30185235|PMID:30842647 10048987 CV195318 NM_001032221.6(STXBP1):c.364C>T (p.Arg122Ter) variant DOID:1059 intellectual disability IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:20887364|PMID:22612257|PMID:25741868|PMID:25758715|PMID:25818041|PMID:26384463|PMID:26865513|PMID:27779742|PMID:28492532|PMID:30185235|PMID:30842647 10048987 CV195318 NM_001032221.6(STXBP1):c.364C>T (p.Arg122Ter) variant DOID:9008086 Developmental Disabilities IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:20887364|PMID:22612257|PMID:25741868|PMID:25758715|PMID:25818041|PMID:26384463|PMID:26865513|PMID:27779742|PMID:28492532|PMID:30185235|PMID:30842647 10048988 CV195320 NM_003238.6(TGFB2):c.933-8_933-6del variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868 10048989 CV195323 NM_003919.3(SGCE):c.771_772del (p.Thr257_Cys258insTer) variant DOID:0090034 myoclonic dystonia 11 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myoclonic dystonia 11 PMID:12821748|PMID:15389977|PMID:17296918|PMID:17853490|PMID:18205193|PMID:18362280|PMID:22259621|PMID:24297365|PMID:25741868|PMID:26467025|PMID:28492532 10048991 CV195328 NM_004369.4(COL6A3):c.2030G>A (p.Arg677His) variant DOID:0050663 Bethlem myopathy IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Myopathy, benign congenital, with contractures PMID:15689448|PMID:16935502|PMID:20981092|PMID:22995991|PMID:25741868|PMID:26467025|PMID:28492532 10048991 CV195328 NM_004369.4(COL6A3):c.2030G>A (p.Arg677His) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:15689448|PMID:16935502|PMID:20981092|PMID:22995991|PMID:25741868|PMID:26467025|PMID:28492532 10048992 CV195331 NM_004385.5(VCAN):c.899C>T (p.Ser300Leu) variant DOID:9005830 Hyaloideoretinal Degeneration of Wagner IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Wagner syndrome PMID:25741868|PMID:28492532 10048993 CV195332 NM_004407.4(DMP1):c.879T>C (p.Ser293=) variant DOID:9001514 Hypophosphatemic Rickets, Autosomal Recessive, 1 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: HYPOPHOSPHATEMIA, AUTOSOMAL RECESSIVE PMID:21050253|PMID:28492532 10048994 CV195333 NM_004456.5(EZH2):c.485-7G>A variant DOID:14731 Weaver syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Weaver syndrome PMID:28492532 10048995 CV195336 NM_004560.4(ROR2):c.937+10C>T variant DOID:0060764 autosomal recessive Robinow syndrome IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Robinow syndrome, autosomal recessive PMID:25741868|PMID:28492532 10048995 CV195336 NM_004560.4(ROR2):c.937+10C>T variant DOID:0110969 brachydactyly type B1 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Brachydactyly type B1 PMID:25741868|PMID:28492532 10048996 CV195338 NM_004595.5(SMS):c.569C>T (p.Thr190Ile) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25936994|PMID:28492532 10048997 CV195343 NM_005199.5(CHRNG):c.507-13C>T variant DOID:0081322 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Autosomal recessive multiple pterygium syndrome PMID:25741868|PMID:28492532 10048997 CV195343 NM_005199.5(CHRNG):c.507-13C>T variant DOID:9005962 Multiple Pterygium Syndrome, Lethal Type IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Lethal multiple pterygium syndrome PMID:25741868|PMID:28492532 10048998 CV195350 NM_005996.4(TBX3):c.1173G>C (p.Ala391=) variant DOID:0060614 ulnar-mammary syndrome IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Ulnar-mammary syndrome PMID:25741868|PMID:28492532 10048999 CV195362 NM_000631.5(NCF4):c.528+16A>G variant DOID:0070194 autosomal recessive chronic granulomatous disease 3 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III PMID:25741868|PMID:28492532 10049000 CV195363 NM_014140.4(SMARCAL1):c.1129G>C (p.Glu377Gln) variant DOID:0060490 Schimke immuno-osseous dysplasia IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Schimke immuno-osseous dysplasia PMID:25741868|PMID:28492532 10049000 CV195363 NM_014140.4(SMARCAL1):c.1129G>C (p.Glu377Gln) variant DOID:1312 focal segmental glomerulosclerosis IAGP D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:25741868|PMID:28492532 10049001 CV195373 NM_014780.5(CUL7):c.1542G>T (p.Gln514His) variant DOID:9005349 Three M Syndrome 1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: 3M syndrome 1 PMID:25741868|PMID:28492532 10049002 CV195377 NM_015294.6(TRIM37):c.398C>T (p.Ala133Val) variant DOID:0050436 mulibrey nanism IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Mulibrey nanism syndrome PMID:25741868|PMID:28492532 10049003 CV195379 NM_015311.3(OBSL1):c.2238G>A (p.Pro746=) variant DOID:9006598 Three M Syndrome 2 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: OBSL1-related condition PMID:25741868|PMID:28492532 10049004 CV195380 NM_130837.3(OPA1):c.800_801del (p.Lys267fs) variant DOID:0050817 Stargardt disease IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Stargardt disease PMID:11440988|PMID:11440989|PMID:20157015|PMID:20952381|PMID:23384603|PMID:25012220|PMID:25741868|PMID:26467025|PMID:28005958|PMID:28492532|PMID:33084218|PMID:34242285 10049004 CV195380 NM_130837.3(OPA1):c.800_801del (p.Lys267fs) variant DOID:0111441 optic atrophy 1 IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Optic Atrophy Type 1 PMID:11440988|PMID:11440989|PMID:20157015|PMID:20952381|PMID:23384603|PMID:25012220|PMID:25741868|PMID:26467025|PMID:28005958|PMID:28492532|PMID:33084218|PMID:34242285 10049004 CV195380 NM_130837.3(OPA1):c.800_801del (p.Lys267fs) variant DOID:5723 optic atrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:11440988|PMID:11440989|PMID:20157015|PMID:20952381|PMID:23384603|PMID:25012220|PMID:25741868|PMID:26467025|PMID:28005958|PMID:28492532|PMID:33084218|PMID:34242285 10049004 CV195380 NM_130837.3(OPA1):c.800_801del (p.Lys267fs) variant DOID:630 genetic disease IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11440988|PMID:11440989|PMID:20157015|PMID:20952381|PMID:23384603|PMID:25012220|PMID:25741868|PMID:26467025|PMID:28005958|PMID:28492532|PMID:33084218|PMID:34242285 10049004 CV195380 NM_130837.3(OPA1):c.800_801del (p.Lys267fs) variant DOID:9006630 Stargardt Disease 1 IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Fundus flavimaculatus PMID:11440988|PMID:11440989|PMID:20157015|PMID:20952381|PMID:23384603|PMID:25012220|PMID:25741868|PMID:26467025|PMID:28005958|PMID:28492532|PMID:33084218|PMID:34242285 10049005 CV195396 NM_019109.5(ALG1):c.723C>T (p.His241=) variant DOID:0080563 congenital disorder of glycosylation Ik IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1K PMID:25741868|PMID:28492532 10049006 CV195398 NM_020451.3(SELENON):c.846C>T (p.Ser282=) variant DOID:0110633 rigid spine muscular dystrophy 1 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy PMID:25741868|PMID:28492532 10049007 CV195399 NM_020451.3(SELENON):c.872+2T>C variant DOID:0110633 rigid spine muscular dystrophy 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy PMID:25741868 10049009 CV195409 NM_001126121.2(SLC25A19):c.483C>T (p.Ala161=) variant DOID:9006375 Amish Lethal Microcephaly IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Amish lethal microcephaly PMID:25741868|PMID:28492532 10049011 CV195412 NM_022132.5(MCCC2):c.518C>G (p.Ser173Trp) variant DOID:0080580 3-methylcrotonyl-CoA carboxylase 2 deficiency IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: 3-methylcrotonyl-CoA carboxylase 2 deficiency PMID:11181649|PMID:22642865|PMID:28492532|PMID:32778825 10049012 CV195413 NM_022132.5(MCCC2):c.568C>T (p.His190Tyr) variant DOID:0050710 3-methylcrotonyl-CoA carboxylase deficiency IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Methylcrotonyl-CoA carboxylase deficiency PMID:16010683|PMID:17968484|PMID:25741868|PMID:28492532 10049012 CV195413 NM_022132.5(MCCC2):c.568C>T (p.His190Tyr) variant DOID:0080580 3-methylcrotonyl-CoA carboxylase 2 deficiency IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: 3-methylcrotonyl-CoA carboxylase 2 deficiency PMID:16010683|PMID:17968484|PMID:25741868|PMID:28492532 10049014 CV195423 NM_024809.5(TCTN2):c.615C>T (p.Gly205=) variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 10049014 CV195423 NM_024809.5(TCTN2):c.615C>T (p.Gly205=) variant DOID:0070122 Meckel syndrome 8 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Meckel syndrome type 8 PMID:28492532 10049014 CV195423 NM_024809.5(TCTN2):c.615C>T (p.Gly205=) variant DOID:0110993 Joubert syndrome 24 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Joubert syndrome 24 PMID:28492532 10049015 CV195424 NM_025009.5(CEP135):c.638T>C (p.Val213Ala) variant DOID:0070282 primary autosomal recessive microcephaly 8 IAGP D RGD:8554872 20200407 ClinVar ClinVar Annotator: match by term: Primary autosomal recessive microcephaly 8 PMID:25741868|PMID:28492532 10049016 CV195429 NM_025265.4(TSEN2):c.870A>G (p.Pro290=) variant DOID:0060264 pontocerebellar hypoplasia IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia PMID:28492532 10049016 CV195429 NM_025265.4(TSEN2):c.870A>G (p.Pro290=) variant DOID:0060266 pontocerebellar hypoplasia type 1B IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia PMID:28492532 10049017 CV195442 NM_153717.3(EVC):c.769C>T (p.Leu257=) variant DOID:0111571 Weyers acrofacial dysostosis IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Curry-Hall syndrome PMID:25741868|PMID:28492532 10049017 CV195442 NM_153717.3(EVC):c.769C>T (p.Leu257=) variant DOID:12714 Ellis-Van Creveld syndrome IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:25741868|PMID:28492532 10049018 CV195443 NM_153717.3(EVC):c.772T>C (p.Tyr258His) variant DOID:0111571 Weyers acrofacial dysostosis IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Curry-Hall syndrome PMID:25741868|PMID:28492532 10049018 CV195443 NM_153717.3(EVC):c.772T>C (p.Tyr258His) variant DOID:12714 Ellis-Van Creveld syndrome IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:25741868|PMID:28492532 10049019 CV195444 NM_153717.3(EVC):c.780G>A (p.Lys260=) variant DOID:12714 Ellis-Van Creveld syndrome IAGP D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:25741868|PMID:28492532 10049020 CV195446 NM_001195248.2(APTX):c.484-25_484-5del variant DOID:0050730 coenzyme Q10 deficiency disease IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Coenzyme Q10 deficiency, Oculomotor Apraxia Type PMID:24033266|PMID:26467025|PMID:28492532 10049020 CV195446 NM_001195248.2(APTX):c.484-25_484-5del variant DOID:0050754 early-onset ataxia with oculomotor apraxia and hypoalbuminemia IAGP D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: Adult onset ataxia with oculomotor apraxia PMID:24033266|PMID:26467025|PMID:28492532 10049020 CV195446 NM_001195248.2(APTX):c.484-25_484-5del variant DOID:0050755 spinocerebellar ataxia with axonal neuropathy 2 IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Ataxia with Oculomotor Apraxia PMID:24033266|PMID:26467025|PMID:28492532 10049021 CV195449 NM_001291867.2(NHS):c.1596G>A (p.Glu532=) variant DOID:0060599 Nance-Horan syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nance-Horan syndrome PMID:28492532 10049021 CV195449 NM_001291867.2(NHS):c.1596G>A (p.Glu532=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10049022 CV195450 NM_001291867.2(NHS):c.3374C>T (p.Ser1125Leu) variant DOID:0060599 Nance-Horan syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Nance-Horan syndrome PMID:25741868|PMID:28492532 10049022 CV195450 NM_001291867.2(NHS):c.3374C>T (p.Ser1125Leu) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10049023 CV195456 NM_203288.2(RP9):c.664del (p.Ter222AspextTer?) variant DOID:0110387 retinitis pigmentosa 9 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 9 PMID:12032732|PMID:23591405|PMID:25741868|PMID:28492532|PMID:3181667 10049023 CV195456 NM_203288.2(RP9):c.664del (p.Ter222AspextTer?) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:12032732|PMID:23591405|PMID:25741868|PMID:28492532|PMID:3181667 10049023 CV195456 NM_203288.2(RP9):c.664del (p.Ter222AspextTer?) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:12032732|PMID:23591405|PMID:25741868|PMID:28492532|PMID:3181667 10049025 CV195462 NM_001854.4(COL11A1):c.4468A>G (p.Ile1490Val) variant DOID:0080672 fibrochondrogenesis 1 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Fibrochondrogenesis 1 PMID:25741868|PMID:28492532 10049025 CV195462 NM_001854.4(COL11A1):c.4468A>G (p.Ile1490Val) variant DOID:0080675 Stickler syndrome 2 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Stickler syndrome type 2 PMID:25741868|PMID:28492532 10049025 CV195462 NM_001854.4(COL11A1):c.4468A>G (p.Ile1490Val) variant DOID:630 genetic disease IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10049026 CV195468 NM_206933.4(USH2A):c.11549-5dup variant DOID:0110360 retinitis pigmentosa 39 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 39 PMID:25741868|PMID:28492532 10049026 CV195468 NM_206933.4(USH2A):c.11549-5dup variant DOID:0110838 Usher syndrome type 2A IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2A PMID:25741868|PMID:28492532 10049027 CV195475 NM_138694.4(PKHD1):c.10219C>T (p.Gln3407Ter) variant DOID:0050770 polycystic liver disease IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver PMID:15108277|PMID:15108281|PMID:15698423|PMID:16133180|PMID:16523049|PMID:19176689|PMID:19940839|PMID:20460933|PMID:25741868|PMID:28375157|PMID:28492532|PMID:31589614|PMID:32939031 10049027 CV195475 NM_138694.4(PKHD1):c.10219C>T (p.Gln3407Ter) variant DOID:0080212 polycystic kidney disease 4 IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease 4 PMID:15108277|PMID:15108281|PMID:15698423|PMID:16133180|PMID:16523049|PMID:19176689|PMID:19940839|PMID:20460933|PMID:25741868|PMID:28375157|PMID:28492532|PMID:31589614|PMID:32939031 10049027 CV195475 NM_138694.4(PKHD1):c.10219C>T (p.Gln3407Ter) variant DOID:0110860 polycystic kidney disease 3 IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: PKD3 PMID:15108277|PMID:15108281|PMID:15698423|PMID:16133180|PMID:16523049|PMID:19176689|PMID:19940839|PMID:20460933|PMID:25741868|PMID:28375157|PMID:28492532|PMID:31589614|PMID:32939031 10049027 CV195475 NM_138694.4(PKHD1):c.10219C>T (p.Gln3407Ter) variant DOID:0110861 autosomal recessive polycystic kidney disease IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease PMID:15108277|PMID:15108281|PMID:15698423|PMID:16133180|PMID:16523049|PMID:19176689|PMID:19940839|PMID:20460933|PMID:25741868|PMID:28375157|PMID:28492532|PMID:31589614|PMID:32939031 10049027 CV195475 NM_138694.4(PKHD1):c.10219C>T (p.Gln3407Ter) variant DOID:898 autosomal dominant polycystic kidney disease IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1 PMID:15108277|PMID:15108281|PMID:15698423|PMID:16133180|PMID:16523049|PMID:19176689|PMID:19940839|PMID:20460933|PMID:25741868|PMID:28375157|PMID:28492532|PMID:31589614|PMID:32939031 10049031 CV195488 NM_000426.4(LAMA2):c.8982T>C (p.Asp2994=) variant DOID:0110636 congenital merosin-deficient muscular dystrophy 1A IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Laminin alpha 2-related dystrophy PMID:25741868|PMID:28492532 10049031 CV195488 NM_000426.4(LAMA2):c.8982T>C (p.Asp2994=) variant DOID:9007352 Congenital Muscular Dystrophy due to Partial LAMA2 Deficiency IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy due to partial LAMA2 deficiency PMID:25741868|PMID:28492532 10049032 CV195490 NM_000540.3(RYR1):c.9414G>A (p.Pro3138=) variant DOID:0080102 congenital myopathy 4A IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion PMID:25741868|PMID:28492532 10049032 CV195490 NM_000540.3(RYR1):c.9414G>A (p.Pro3138=) variant DOID:0080990 King Denborough syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: King syndrome PMID:25741868|PMID:28492532 10049032 CV195490 NM_000540.3(RYR1):c.9414G>A (p.Pro3138=) variant DOID:0080991 congenital myopathy 1B IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Multiminicore myopathy PMID:25741868|PMID:28492532 10049032 CV195490 NM_000540.3(RYR1):c.9414G>A (p.Pro3138=) variant DOID:3529 congenital myopathy 1A IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Myopathy, Central Core PMID:25741868|PMID:28492532 10049032 CV195490 NM_000540.3(RYR1):c.9414G>A (p.Pro3138=) variant DOID:422 congenital structural myopathy IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy PMID:25741868|PMID:28492532 10049032 CV195490 NM_000540.3(RYR1):c.9414G>A (p.Pro3138=) variant DOID:8545 malignant hyperthermia IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Malignant hyperthermia susceptibility PMID:25741868|PMID:28492532 10049032 CV195490 NM_000540.3(RYR1):c.9414G>A (p.Pro3138=) variant DOID:9005001 Congenital Neuromuscular Disease, with Uniform Type 1 Fiber IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Neuromuscular disease, congenital, with uniform type 1 fiber PMID:25741868|PMID:28492532 10049032 CV195490 NM_000540.3(RYR1):c.9414G>A (p.Pro3138=) variant DOID:9005320 Malignant Fever IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Pharmacogenic myopathy PMID:25741868|PMID:28492532 10049033 CV195492 NM_001377.3(DYNC2H1):c.9749A>G (p.Gln3250Arg) variant DOID:0050592 asphyxiating thoracic dystrophy IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Short Rib Polydactyly Syndrome PMID:28492532 10049033 CV195492 NM_001377.3(DYNC2H1):c.9749A>G (p.Gln3250Arg) variant DOID:0110087 asphyxiating thoracic dystrophy 3 IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 PMID:28492532 10049034 CV195495 NM_025074.7(FRAS1):c.9553G>A (p.Gly3185Arg) variant DOID:0111405 Fraser syndrome 1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: FRAS1-related condition PMID:28492532 10049034 CV195495 NM_025074.7(FRAS1):c.9553G>A (p.Gly3185Arg) variant DOID:630 genetic disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10049035 CV195496 NM_182961.4(SYNE1):c.10037C>A (p.Ser3346Tyr) variant DOID:0070249 autosomal dominant Emery-Dreifuss muscular dystrophy 4 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant PMID:25741868|PMID:26467025|PMID:28492532 10049035 CV195496 NM_182961.4(SYNE1):c.10037C>A (p.Ser3346Tyr) variant DOID:0080979 arthrogryposis multiplex congenita-3 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, MYOGENIC TYPE PMID:25741868|PMID:26467025|PMID:28492532 10049035 CV195496 NM_182961.4(SYNE1):c.10037C>A (p.Ser3346Tyr) variant DOID:0111618 autosomal recessive spinocerebellar ataxia 8 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type PMID:25741868|PMID:26467025|PMID:28492532 10049036 CV195497 NM_182961.4(SYNE1):c.10056T>C (p.Ser3352=) variant DOID:0070249 autosomal dominant Emery-Dreifuss muscular dystrophy 4 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES PMID:26467025|PMID:28492532 10049036 CV195497 NM_182961.4(SYNE1):c.10056T>C (p.Ser3352=) variant DOID:0111618 autosomal recessive spinocerebellar ataxia 8 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 PMID:26467025|PMID:28492532 10049037 CV195500 NM_182914.3(SYNE2):c.12378C>T (p.Ser4126=) variant DOID:0070250 autosomal dominant Emery-Dreifuss muscular dystrophy 5 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: SYNE2-related condition PMID:25741868|PMID:28492532 10049038 CV195505 NM_206933.4(USH2A):c.13316C>T (p.Thr4439Ile) variant DOID:0050439 Usher syndrome IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:18273898|PMID:20440071|PMID:22135276|PMID:24033266|PMID:24944099|PMID:25521520|PMID:25741868|PMID:26416264|PMID:26927203|PMID:27460420|PMID:27957503|PMID:28041643|PMID:28492532|PMID:28559085|PMID:28944237|PMID:31964843|PMID:32581362|PMID:33851411|PMID:34948090|PMID:35266249|PMID:36011334|PMID:36819107 10049038 CV195505 NM_206933.4(USH2A):c.13316C>T (p.Thr4439Ile) variant DOID:0110360 retinitis pigmentosa 39 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 39 PMID:18273898|PMID:20440071|PMID:22135276|PMID:24033266|PMID:24944099|PMID:25521520|PMID:25741868|PMID:26416264|PMID:26927203|PMID:27460420|PMID:27957503|PMID:28041643|PMID:28492532|PMID:28559085|PMID:28944237|PMID:31964843|PMID:32581362|PMID:33851411|PMID:34948090|PMID:35266249|PMID:36011334|PMID:36819107 10049038 CV195505 NM_206933.4(USH2A):c.13316C>T (p.Thr4439Ile) variant DOID:0110838 Usher syndrome type 2A IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2A PMID:18273898|PMID:20440071|PMID:22135276|PMID:24033266|PMID:24944099|PMID:25521520|PMID:25741868|PMID:26416264|PMID:26927203|PMID:27460420|PMID:27957503|PMID:28041643|PMID:28492532|PMID:28559085|PMID:28944237|PMID:31964843|PMID:32581362|PMID:33851411|PMID:34948090|PMID:35266249|PMID:36011334|PMID:36819107 10049038 CV195505 NM_206933.4(USH2A):c.13316C>T (p.Thr4439Ile) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa PMID:18273898|PMID:20440071|PMID:22135276|PMID:24033266|PMID:24944099|PMID:25521520|PMID:25741868|PMID:26416264|PMID:26927203|PMID:27460420|PMID:27957503|PMID:28041643|PMID:28492532|PMID:28559085|PMID:28944237|PMID:31964843|PMID:32581362|PMID:33851411|PMID:34948090|PMID:35266249|PMID:36011334|PMID:36819107 10049038 CV195505 NM_206933.4(USH2A):c.13316C>T (p.Thr4439Ile) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:18273898|PMID:20440071|PMID:22135276|PMID:24033266|PMID:24944099|PMID:25521520|PMID:25741868|PMID:26416264|PMID:26927203|PMID:27460420|PMID:27957503|PMID:28041643|PMID:28492532|PMID:28559085|PMID:28944237|PMID:31964843|PMID:32581362|PMID:33851411|PMID:34948090|PMID:35266249|PMID:36011334|PMID:36819107 10049040 CV195509 NM_025074.7(FRAS1):c.9806G>A (p.Arg3269Gln) variant DOID:0111405 Fraser syndrome 1 IAGP D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Fraser syndrome 1 PMID:25741868|PMID:28492532 10049040 CV195509 NM_025074.7(FRAS1):c.9806G>A (p.Arg3269Gln) variant DOID:3827 congenital diaphragmatic hernia IAGP D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Congenital diaphragmatic hernia PMID:25741868|PMID:28492532 10049041 CV195513 NM_001376.5(DYNC1H1):c.11942C>G (p.Thr3981Arg) variant DOID:0061144 complex cortical dysplasia with other brain malformations 13 IAGP D RGD:8554872 20250603 ClinVar ClinVar Annotator: match by term: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 13 PMID:25741868|PMID:26344056|PMID:26467025|PMID:28492532 10049041 CV195513 NM_001376.5(DYNC1H1):c.11942C>G (p.Thr3981Arg) variant DOID:0070043 autosomal dominant intellectual developmental disorder 13 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 13 PMID:25741868|PMID:26344056|PMID:26467025|PMID:28492532 10049041 CV195513 NM_001376.5(DYNC1H1):c.11942C>G (p.Thr3981Arg) variant DOID:0070351 spinal muscular atrophy with lower extremity predominant 1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant PMID:25741868|PMID:26344056|PMID:26467025|PMID:28492532 10049041 CV195513 NM_001376.5(DYNC1H1):c.11942C>G (p.Thr3981Arg) variant DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2O PMID:25741868|PMID:26344056|PMID:26467025|PMID:28492532 10049041 CV195513 NM_001376.5(DYNC1H1):c.11942C>G (p.Thr3981Arg) variant DOID:10595 Charcot-Marie-Tooth disease IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:25741868|PMID:26344056|PMID:26467025|PMID:28492532 10049041 CV195513 NM_001376.5(DYNC1H1):c.11942C>G (p.Thr3981Arg) variant DOID:1441 autosomal dominant cerebellar ataxia IAGP D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia PMID:25741868|PMID:26344056|PMID:26467025|PMID:28492532 10049041 CV195513 NM_001376.5(DYNC1H1):c.11942C>G (p.Thr3981Arg) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26344056|PMID:26467025|PMID:28492532 10049041 CV195513 NM_001376.5(DYNC1H1):c.11942C>G (p.Thr3981Arg) variant DOID:9002121 Spinocerebellar Ataxias IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Spinocerebellar Ataxia, Dominant PMID:25741868|PMID:26344056|PMID:26467025|PMID:28492532 10049043 CV195530 NM_001164508.2(NEB):c.10452+9A>G variant DOID:0110928 nemaline myopathy 2 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 2 PMID:25741868|PMID:26467025|PMID:28492532 10049045 CV195536 NM_001164508.2(NEB):c.10463G>A (p.Arg3488His) variant DOID:0110928 nemaline myopathy 2 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 2 PMID:25741868|PMID:28492532 10049046 CV195539 NM_182961.4(SYNE1):c.11187G>T (p.Lys3729Asn) variant DOID:0070249 autosomal dominant Emery-Dreifuss muscular dystrophy 4 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES PMID:25741868|PMID:26467025|PMID:28492532|PMID:29482223|PMID:29970176|PMID:33652732 10049046 CV195539 NM_182961.4(SYNE1):c.11187G>T (p.Lys3729Asn) variant DOID:0080979 arthrogryposis multiplex congenita-3 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, MYOGENIC TYPE PMID:25741868|PMID:26467025|PMID:28492532|PMID:29482223|PMID:29970176|PMID:33652732 10049046 CV195539 NM_182961.4(SYNE1):c.11187G>T (p.Lys3729Asn) variant DOID:0111618 autosomal recessive spinocerebellar ataxia 8 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 PMID:25741868|PMID:26467025|PMID:28492532|PMID:29482223|PMID:29970176|PMID:33652732 10049047 CV195542 NM_000019.4(ACAT1):c.623G>A (p.Arg208Gln) variant DOID:14723 beta-ketothiolase deficiency IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Deficiency of acetyl-CoA acetyltransferase PMID:17236799|PMID:25741868|PMID:28492532|PMID:31268215 10049048 CV195547 NM_054012.4(ASS1):c.421-2A>G variant DOID:0070340 classic citrullinemia IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Citrullinemia type I PMID:10987146|PMID:16199547|PMID:18473344|PMID:19006241|PMID:23246278|PMID:25741868|PMID:28492532|PMID:7557970|PMID:7977368 10049048 CV195547 NM_054012.4(ASS1):c.421-2A>G variant DOID:9273 citrullinemia IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Citrullinuria PMID:10987146|PMID:16199547|PMID:18473344|PMID:19006241|PMID:23246278|PMID:25741868|PMID:28492532|PMID:7557970|PMID:7977368 10049049 CV195551 NM_001379270.1(CNGA1):c.300A>G (p.Glu100=) variant DOID:0110377 retinitis pigmentosa 49 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 49 PMID:28492532 10049049 CV195551 NM_001379270.1(CNGA1):c.300A>G (p.Glu100=) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532 10049050 CV195552 NM_000143.4(FH):c.912_918del (p.Phe305fs) variant DOID:0111261 fumarase deficiency IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Fumarase deficiency PMID:11865300|PMID:12772087|PMID:21398687|PMID:25741868|PMID:26467025|PMID:28492532 10049050 CV195552 NM_000143.4(FH):c.912_918del (p.Phe305fs) variant DOID:9005510 Hereditary Leiomyomatosis and Renal Cell Cancer IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer PMID:11865300|PMID:12772087|PMID:21398687|PMID:25741868|PMID:26467025|PMID:28492532 10049050 CV195552 NM_000143.4(FH):c.912_918del (p.Phe305fs) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:11865300|PMID:12772087|PMID:21398687|PMID:25741868|PMID:26467025|PMID:28492532 10049051 CV195555 NM_000155.4(GALT):c.572C>T (p.Ala191Val) variant DOID:9870 galactosemia IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Galactosemia, classic PMID:25741868|PMID:28492532 10049052 CV195567 NM_000203.5(IDUA):c.972+1G>A variant DOID:12802 mucopolysaccharidosis I IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 PMID:11735025|PMID:16199547|PMID:21480867|PMID:27520059|PMID:28492532 10049053 CV195569 NM_000235.4(LIPA):c.756A>C (p.Ile252=) variant DOID:0080217 lysosomal acid lipase deficiency IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Lysosomal acid lipase deficiency PMID:25741868|PMID:28492532 10049053 CV195569 NM_000235.4(LIPA):c.756A>C (p.Ile252=) variant DOID:14497 Wolman disease IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Wolman disease PMID:25741868|PMID:28492532 10049053 CV195569 NM_000235.4(LIPA):c.756A>C (p.Ile252=) variant DOID:9004186 Wolman Disease with Hypolipoproteinemia and Acanthocytosis IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Wolman disease with hypolipoproteinemia and acanthocytosis PMID:25741868|PMID:28492532 10049055 CV195577 NM_000329.3(RPE65):c.675C>G (p.Ile225Met) variant DOID:0110016 Leber congenital amaurosis 2 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: AMAUROSIS CONGENITA OF LEBER II PMID:25741868|PMID:28492532 10049055 CV195577 NM_000329.3(RPE65):c.675C>G (p.Ile225Met) variant DOID:0110353 retinitis pigmentosa 20 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 20 PMID:25741868|PMID:28492532 10049056 CV195578 NM_000381.4(MID1):c.1266C>T (p.Thr422=) variant DOID:630 genetic disease IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18360914|PMID:25741868|PMID:28492532 10049057 CV195580 NM_000392.5(ABCC2):c.842G>A (p.Ser281Asn) variant DOID:12308 Dubin-Johnson syndrome IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Dubin-Johnson syndrome PMID:28492532 10049059 CV195583 NM_001354712.2(THRB):c.735C>T (p.Phe245=) variant DOID:9007743 Generalized Thyroid Hormone Resistance, Autosomal Dominant IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Thyroid hormone resistance, generalized, autosomal dominant PMID:25741868 10049060 CV195584 NM_000478.6(ALPL):c.787T>C (p.Tyr263His) variant DOID:0110913 adult hypophosphatasia IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Adult hypophosphatasia PMID:25741868|PMID:28492532|PMID:28881669|PMID:30680361|PMID:31600233|PMID:32779619|PMID:33852075|PMID:34213743 10049060 CV195584 NM_000478.6(ALPL):c.787T>C (p.Tyr263His) variant DOID:0110914 infantile hypophosphatasia IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Infantile hypophosphatasia PMID:25741868|PMID:28492532|PMID:28881669|PMID:30680361|PMID:31600233|PMID:32779619|PMID:33852075|PMID:34213743 10049060 CV195584 NM_000478.6(ALPL):c.787T>C (p.Tyr263His) variant DOID:0110915 childhood hypophosphatasia IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Childhood hypophosphatasia PMID:25741868|PMID:28492532|PMID:28881669|PMID:30680361|PMID:31600233|PMID:32779619|PMID:33852075|PMID:34213743 10049060 CV195584 NM_000478.6(ALPL):c.787T>C (p.Tyr263His) variant DOID:12347 osteogenesis imperfecta IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:25741868|PMID:28492532|PMID:28881669|PMID:30680361|PMID:31600233|PMID:32779619|PMID:33852075|PMID:34213743 10049060 CV195584 NM_000478.6(ALPL):c.787T>C (p.Tyr263His) variant DOID:14213 hypophosphatasia IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Hypophosphatasia PMID:25741868|PMID:28492532|PMID:28881669|PMID:30680361|PMID:31600233|PMID:32779619|PMID:33852075|PMID:34213743 10049062 CV195589 NM_000532.5(PCCB):c.683C>T (p.Pro228Leu) variant DOID:14701 propionic acidemia IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:12007220|PMID:15464417|PMID:15949719|PMID:22033733|PMID:25047749|PMID:25741868|PMID:27089410|PMID:27776753|PMID:28492532|PMID:30274917|PMID:31249402|PMID:31916709|PMID:8023851 10049062 CV195589 NM_000532.5(PCCB):c.683C>T (p.Pro228Leu) variant DOID:630 genetic disease IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12007220|PMID:15464417|PMID:15949719|PMID:22033733|PMID:25047749|PMID:25741868|PMID:27089410|PMID:27776753|PMID:28492532|PMID:30274917|PMID:31249402|PMID:31916709|PMID:8023851 10049063 CV195590 NM_000535.7(PMS2):c.706-4dup variant DOID:0070271 Lynch syndrome 1 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Lynch syndrome I PMID:25741868|PMID:26467025|PMID:28492532 10049063 CV195590 NM_000535.7(PMS2):c.706-4dup variant DOID:0070275 hereditary nonpolyposis colorectal cancer type 4 IAGP D RGD:8554872 20180306 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer type 4 PMID:25741868|PMID:26467025|PMID:28492532 10049063 CV195590 NM_000535.7(PMS2):c.706-4dup variant DOID:3883 Lynch syndrome IAGP D RGD:8554872 20180306 ClinVar ClinVar Annotator: match by term: Lynch syndrome PMID:25741868|PMID:26467025|PMID:28492532 10049063 CV195590 NM_000535.7(PMS2):c.706-4dup variant DOID:9003892 Mismatch Repair Cancer Syndrome 1 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Mismatch repair cancer syndrome 1 PMID:25741868|PMID:26467025|PMID:28492532 10049063 CV195590 NM_000535.7(PMS2):c.706-4dup variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20180306 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:26467025|PMID:28492532 10049064 CV195593 NM_000642.3(AGL):c.894C>T (p.Leu298=) variant DOID:2748 glycogen storage disease III IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Glycogen storage disease type III PMID:25741868|PMID:28492532 10049065 CV195594 NM_000709.4(BCKDHA):c.861_868del (p.Gly288fs) variant DOID:0061203 maple syrup urine disease type IA IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease type 1A PMID:10694918|PMID:16786533|PMID:21098507|PMID:21228398|PMID:22593002|PMID:23765052|PMID:24374108|PMID:25741868|PMID:26830710|PMID:27403441|PMID:28492532|PMID:8037208 10049065 CV195594 NM_000709.4(BCKDHA):c.861_868del (p.Gly288fs) variant DOID:9269 maple syrup urine disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:10694918|PMID:16786533|PMID:21098507|PMID:21228398|PMID:22593002|PMID:23765052|PMID:24374108|PMID:25741868|PMID:26830710|PMID:27403441|PMID:28492532|PMID:8037208 10049066 CV195597 NM_000795.4(DRD2):c.957C>T (p.Pro319=) variant DOID:543 dystonia IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Dystonia PMID:25741868|PMID:28492532 10049066 CV195597 NM_000795.4(DRD2):c.957C>T (p.Pro319=) variant DOID:9007633 Body Weight IAGP D RGD:405850206 20250906 GWAS_CATALOG Based on the EFO term ID PMID:40436827 10049067 CV195598 NM_000823.4(GHRHR):c.673G>A (p.Val225Ile) variant DOID:0060874 isolated growth hormone deficiency type IB IAGP D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Isolated growth hormone deficiency type IB PMID:11298081|PMID:11502843|PMID:21044116|PMID:28492532 10049070 CV195602 NM_001004334.4(GPR179):c.1478= (p.His493=) variant DOID:0110869 congenital stationary night blindness 1E IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness 1E PMID:25741868|PMID:28492532 10049071 CV195605 NM_001023570.4(IQCB1):c.574C>T (p.Leu192=) variant DOID:12712 nephronophthisis IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:25741868|PMID:28492532 10049071 CV195605 NM_001023570.4(IQCB1):c.574C>T (p.Leu192=) variant DOID:9004221 Senior-Loken Syndrome 5 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 5 PMID:25741868|PMID:28492532 10049072 CV195612 NM_001378615.1(CC2D2A):c.351T>G (p.Ser117Arg) variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:21370303|PMID:22241855|PMID:25741868|PMID:28492532 10049072 CV195612 NM_001378615.1(CC2D2A):c.351T>G (p.Ser117Arg) variant DOID:0070120 Meckel syndrome 6 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Meckel syndrome type 6 PMID:21370303|PMID:22241855|PMID:25741868|PMID:28492532 10049072 CV195612 NM_001378615.1(CC2D2A):c.351T>G (p.Ser117Arg) variant DOID:0111004 Joubert syndrome 9 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Joubert syndrome 9 PMID:21370303|PMID:22241855|PMID:25741868|PMID:28492532 10049073 CV195616 NM_001611.5(ACP5):c.814C>T (p.Arg272Cys) variant DOID:9003917 Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Spondyloenchondrodysplasia with immune dysregulation PMID:25741868|PMID:28492532 10049074 CV195619 NM_001130987.2(DYSF):c.886G>T (p.Glu296Ter) variant DOID:0070199 Miyoshi muscular dystrophy 1 IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Miyoshi muscular dystrophy 1 PMID:25741868 10049074 CV195619 NM_001130987.2(DYSF):c.886G>T (p.Glu296Ter) variant DOID:0110276 autosomal recessive limb-girdle muscular dystrophy type 2B IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2B PMID:25741868 10049075 CV195625 NM_001159699.2(FHL1):c.737-13T>C variant DOID:0070251 X-linked Emery-Dreifuss muscular dystrophy 6 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: X-linked myopathy with postural muscle atrophy PMID:25741868|PMID:28492532 10049076 CV195626 NM_001159699.2(FHL1):c.737-3del variant DOID:0070251 X-linked Emery-Dreifuss muscular dystrophy 6 IAGP D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Myopathy with postural muscle atrophy, X-linked PMID:25741868|PMID:26467025|PMID:28492532 10049077 CV195627 NM_001159699.2(FHL1):c.737-8C>T variant DOID:0070251 X-linked Emery-Dreifuss muscular dystrophy 6 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Myopathy with postural muscle atrophy, X-linked PMID:25741868|PMID:26467025|PMID:28492532 10049077 CV195627 NM_001159699.2(FHL1):c.737-8C>T variant DOID:0080090 reducing body myopathy 1A IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Myopathy, reducing body, X-linked, early-onset, severe PMID:25741868|PMID:26467025|PMID:28492532 10049077 CV195627 NM_001159699.2(FHL1):c.737-8C>T variant DOID:0080687 reducing body myopathy 1B IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Myopathy, reducing body, X-linked, childhood-onset PMID:25741868|PMID:26467025|PMID:28492532 10049077 CV195627 NM_001159699.2(FHL1):c.737-8C>T variant DOID:0112148 Uruguay faciocardiomusculoskeletal syndrome IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Uruguay faciocardiomusculoskeletal syndrome PMID:25741868|PMID:26467025|PMID:28492532 10049077 CV195627 NM_001159699.2(FHL1):c.737-8C>T variant DOID:9001526 X-Linked Scapuloperoneal Muscular Dystrophy IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Scapuloperoneal myopathy, X-linked dominant PMID:25741868|PMID:26467025|PMID:28492532 10049078 CV195631 NM_001814.6(CTSC):c.1357A>G (p.Ile453Val) variant DOID:3389 Papillon-Lefevre disease IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Papillon-Lefèvre syndrome PMID:14974080|PMID:18809751|PMID:24033266|PMID:25741868|PMID:28492532 10049078 CV195631 NM_001814.6(CTSC):c.1357A>G (p.Ile453Val) variant DOID:9001957 Keratosis Palmoplantaris with Periodontopathia and Onychogryposis IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Haim-Munk syndrome PMID:14974080|PMID:18809751|PMID:24033266|PMID:25741868|PMID:28492532 10049079 CV195632 NM_001844.5(COL2A1):c.504C>A (p.Gly168=) variant DOID:0080676 Stickler syndrome 1 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Arthroophthalmopathy, hereditary progressive PMID:25741868|PMID:28492532 10049080 CV195633 NM_001845.6(COL4A1):c.393G>A (p.Glu131=) variant DOID:0060263 porencephaly IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: PORENCEPHALY, TYPE 1, AUTOSOMAL DOMINANT PMID:25741868|PMID:26467025|PMID:28492532 10049080 CV195633 NM_001845.6(COL4A1):c.393G>A (p.Glu131=) variant DOID:0090125 brain small vessel disease 1 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Brain small vessel disease 1 with or without ocular anomalies PMID:25741868|PMID:26467025|PMID:28492532 10049080 CV195633 NM_001845.6(COL4A1):c.393G>A (p.Glu131=) variant DOID:9003529 Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps PMID:25741868|PMID:26467025|PMID:28492532 10049081 CV195634 NM_001849.4(COL6A2):c.875G>T (p.Gly292Val) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:15689448|PMID:17785673|PMID:19344236|PMID:24038877|PMID:24801232|PMID:25741868|PMID:28492532|PMID:7695699|PMID:8218237 10049082 CV195639 NM_002206.3(ITGA7):c.999-4A>G variant DOID:0110639 congenital muscular dystrophy due to integrin alpha-7 deficiency IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, congenital, due to ITGA7 deficiency PMID:28492532 10049083 CV195641 NM_002225.5(IVD):c.784+1G>A variant DOID:14753 isovaleric acidemia IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Isovaleryl-CoA dehydrogenase deficiency PMID:16199547|PMID:16602101|PMID:25741868|PMID:28492532 10049084 CV195656 NM_001130987.2(DYSF):c.797G>A (p.Gly266Glu) variant DOID:0070199 Miyoshi muscular dystrophy 1 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Miyoshi muscular dystrophy 1 PMID:17070050|PMID:18853459|PMID:25741868|PMID:28492532|PMID:32528171|PMID:33610434|PMID:33927379 10049084 CV195656 NM_001130987.2(DYSF):c.797G>A (p.Gly266Glu) variant DOID:0110274 autosomal recessive limb-girdle muscular dystrophy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy PMID:17070050|PMID:18853459|PMID:25741868|PMID:28492532|PMID:32528171|PMID:33610434|PMID:33927379 10049084 CV195656 NM_001130987.2(DYSF):c.797G>A (p.Gly266Glu) variant DOID:0110276 autosomal recessive limb-girdle muscular dystrophy type 2B IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 3 PMID:17070050|PMID:18853459|PMID:25741868|PMID:28492532|PMID:32528171|PMID:33610434|PMID:33927379 10049084 CV195656 NM_001130987.2(DYSF):c.797G>A (p.Gly266Glu) variant DOID:0111187 distal myopathy with anterior tibial onset IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Distal myopathy with anterior tibial onset PMID:17070050|PMID:18853459|PMID:25741868|PMID:28492532|PMID:32528171|PMID:33610434|PMID:33927379 10049087 CV195663 NM_004006.3(DMD):c.547dup (p.Trp183fs) variant DOID:11723 Duchenne muscular dystrophy IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:28492532 10049088 CV195664 NM_004006.3(DMD):c.627del (p.Ile209fs) variant DOID:11723 Duchenne muscular dystrophy IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:16770791|PMID:25007885|PMID:26467025|PMID:28492532 10049090 CV195671 NM_004385.5(VCAN):c.3713G>C (p.Arg1238Thr) variant DOID:630 genetic disease IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10049090 CV195671 NM_004385.5(VCAN):c.3713G>C (p.Arg1238Thr) variant DOID:9005830 Hyaloideoretinal Degeneration of Wagner IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Wagner syndrome PMID:25741868|PMID:28492532 10049091 CV195679 NM_004646.4(NPHS1):c.791C>G (p.Pro264Arg) variant DOID:0080390 nephrotic syndrome type 1 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome PMID:11317351|PMID:11854170|PMID:17371932|PMID:18443213|PMID:19808243|PMID:19812541|PMID:20507940|PMID:20981092|PMID:21228398|PMID:22565185|PMID:23349334|PMID:23595123|PMID:24371179|PMID:25741868|PMID:25804400|PMID:26346198|PMID:26467025|PMID:26560236|PMID:27019444|PMID:27535533|PMID:27884173|PMID:28492532 10049091 CV195679 NM_004646.4(NPHS1):c.791C>G (p.Pro264Arg) variant DOID:1312 focal segmental glomerulosclerosis IAGP D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:11317351|PMID:11854170|PMID:17371932|PMID:18443213|PMID:19808243|PMID:19812541|PMID:20507940|PMID:20981092|PMID:21228398|PMID:22565185|PMID:23349334|PMID:23595123|PMID:24371179|PMID:25741868|PMID:25804400|PMID:26346198|PMID:26467025|PMID:26560236|PMID:27019444|PMID:27535533|PMID:27884173|PMID:28492532 10049091 CV195679 NM_004646.4(NPHS1):c.791C>G (p.Pro264Arg) variant DOID:2590 familial nephrotic syndrome IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Congenital nephrotic syndrome PMID:11317351|PMID:11854170|PMID:17371932|PMID:18443213|PMID:19808243|PMID:19812541|PMID:20507940|PMID:20981092|PMID:21228398|PMID:22565185|PMID:23349334|PMID:23595123|PMID:24371179|PMID:25741868|PMID:25804400|PMID:26346198|PMID:26467025|PMID:26560236|PMID:27019444|PMID:27535533|PMID:27884173|PMID:28492532 10049092 CV195685 NM_004937.3(CTNS):c.356G>A (p.Arg119His) variant DOID:1064 cystinosis IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Nephropathic cystinosis PMID:28492532 10049092 CV195685 NM_004937.3(CTNS):c.356G>A (p.Arg119His) variant DOID:9007952 Cystinosis, Ocular Nonnephropathic IAGP D RGD:8554872 20250729 ClinVar ClinVar Annotator: match by term: Ocular cystinosis PMID:28492532 10049093 CV195700 NM_006214.4(PHYH):c.734G>A (p.Arg245Gln) variant DOID:0050567 orofacial cleft IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Nonsyndromic cleft lip palate PMID:10767344|PMID:14974078|PMID:16186124|PMID:25741868|PMID:27229527|PMID:27535533|PMID:28492532|PMID:34426522 10049093 CV195700 NM_006214.4(PHYH):c.734G>A (p.Arg245Gln) variant DOID:0080884 vitamin D-dependent rickets type 2A IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: VITAMIN D-RESISTANT RICKETS WITH END-ORGAN UNRESPONSIVENESS TO 1,25-DIHYDROXYCHOLECALCIFEROL PMID:10767344|PMID:14974078|PMID:16186124|PMID:25741868|PMID:27229527|PMID:27535533|PMID:28492532|PMID:34426522 10049093 CV195700 NM_006214.4(PHYH):c.734G>A (p.Arg245Gln) variant DOID:10582 Refsum disease IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Phytanic acid oxidase deficiency PMID:10767344|PMID:14974078|PMID:16186124|PMID:25741868|PMID:27229527|PMID:27535533|PMID:28492532|PMID:34426522 10049093 CV195700 NM_006214.4(PHYH):c.734G>A (p.Arg245Gln) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10767344|PMID:14974078|PMID:16186124|PMID:25741868|PMID:27229527|PMID:27535533|PMID:28492532|PMID:34426522 10049093 CV195700 NM_006214.4(PHYH):c.734G>A (p.Arg245Gln) variant DOID:9001458 Hypophosphatemic Rickets IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS PMID:10767344|PMID:14974078|PMID:16186124|PMID:25741868|PMID:27229527|PMID:27535533|PMID:28492532|PMID:34426522 10049093 CV195700 NM_006214.4(PHYH):c.734G>A (p.Arg245Gln) variant DOID:9007505 Familial Hypophosphatemic Rickets IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT PMID:10767344|PMID:14974078|PMID:16186124|PMID:25741868|PMID:27229527|PMID:27535533|PMID:28492532|PMID:34426522 10049095 CV195709 NM_006790.3(MYOT):c.1008G>T (p.Val336=) variant DOID:0080094 myofibrillar myopathy 3 IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 3 PMID:25741868|PMID:26467025|PMID:28492532 10049095 CV195709 NM_006790.3(MYOT):c.1008G>T (p.Val336=) variant DOID:0080307 myofibrillar myopathy IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Myofibrillar Myopathy, Dominant PMID:25741868|PMID:26467025|PMID:28492532 10049095 CV195709 NM_006790.3(MYOT):c.1008G>T (p.Val336=) variant DOID:11724 limb-girdle muscular dystrophy IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Dominant PMID:25741868|PMID:26467025|PMID:28492532 10049096 CV195713 NM_012434.5(SLC17A5):c.886G>A (p.Val296Ile) variant DOID:3659 sialuria IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Sialic acid storage disease PMID:25741868|PMID:28492532 10049096 CV195713 NM_012434.5(SLC17A5):c.886G>A (p.Val296Ile) variant DOID:9000742 Free Sialic Acid Storage Disease IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: N-acetylneuraminic acid (NANA) storage disease (NSD) PMID:25741868|PMID:28492532 10049096 CV195713 NM_012434.5(SLC17A5):c.886G>A (p.Val296Ile) variant DOID:9003820 Infantile Sialic Storage Disease IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: N-Acetylneuraminic acid storage disease PMID:25741868|PMID:28492532 10049097 CV195718 NM_014014.5(SNRNP200):c.732C>T (p.Leu244=) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant PMID:28492532 10049098 CV195726 NM_015404.4(WHRN):c.1417-1G>A variant DOID:0110490 autosomal recessive nonsyndromic deafness 31 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 31 PMID:12833159|PMID:15841483|PMID:16199547|PMID:22147658|PMID:25741868|PMID:28492532 10049098 CV195726 NM_015404.4(WHRN):c.1417-1G>A variant DOID:0110840 Usher syndrome type 2D IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: USHER SYNDROME, TYPE IID PMID:12833159|PMID:15841483|PMID:16199547|PMID:22147658|PMID:25741868|PMID:28492532 10049099 CV195729 NM_016616.5(NME8):c.271-3T>C variant DOID:0110606 primary ciliary dyskinesia 6 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 6 PMID:25741868|PMID:28492532 10049099 CV195729 NM_016616.5(NME8):c.271-3T>C variant DOID:9562 primary ciliary dyskinesia IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:25741868|PMID:28492532 10049100 CV195731 NM_001353214.3(DYM):c.500T>A (p.Ile167Asn) variant DOID:0081270 Smith-McCort dysplasia 1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: DYM-related condition PMID:28492532 10049101 CV195739 NM_020166.5(MCCC1):c.640-2A>G variant DOID:0050710 3-methylcrotonyl-CoA carboxylase deficiency IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Methylcrotonyl-CoA carboxylase deficiency PMID:11181649|PMID:15359379|PMID:16199547|PMID:22642865|PMID:25741868|PMID:27601257|PMID:28492532 10049101 CV195739 NM_020166.5(MCCC1):c.640-2A>G variant DOID:0080579 3-methylcrotonyl-CoA carboxylase 1 deficiency IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: 3 Methylcrotonyl-CoA carboxylase 1 deficiency PMID:11181649|PMID:15359379|PMID:16199547|PMID:22642865|PMID:25741868|PMID:27601257|PMID:28492532 10049103 CV195742 NM_020751.3(COG6):c.624-3dup variant DOID:0070264 congenital disorder of glycosylation type IIl IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2L PMID:24033266|PMID:28492532 10049103 CV195742 NM_020751.3(COG6):c.624-3dup variant DOID:5212 congenital disorder of glycosylation IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:24033266|PMID:28492532 10049103 CV195742 NM_020751.3(COG6):c.624-3dup variant DOID:9001463 Shaheen Syndrome IAGP D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Shaheen syndrome PMID:24033266|PMID:28492532 10049104 CV195743 NM_020754.4(ARHGAP31):c.820C>T (p.Pro274Ser) variant DOID:0060227 Adams-Oliver syndrome IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Scalp defects with ectrodactyly PMID:25741868|PMID:28492532 10049104 CV195743 NM_020754.4(ARHGAP31):c.820C>T (p.Pro274Ser) variant DOID:10763 hypertension IAGP D RGD:405850206 20250917 GWAS_CATALOG Based on the EFO term ID PMID:33230300 10049104 CV195743 NM_020754.4(ARHGAP31):c.820C>T (p.Pro274Ser) variant DOID:9004220 Adams-Oliver Syndrome 1 IAGP D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Adams-Oliver syndrome 1 PMID:25741868|PMID:28492532 10049105 CV195745 NM_021072.4(HCN1):c.1783+7dup variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:26467025|PMID:28492532 10049108 CV195752 NM_024426.6(WT1):c.1122A>G (p.Arg374=) variant DOID:0050438 Frasier syndrome IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Frasier syndrome PMID:25741868|PMID:26467025|PMID:28492532 10049108 CV195752 NM_024426.6(WT1):c.1122A>G (p.Arg374=) variant DOID:0080383 nephrotic syndrome type 4 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 4 PMID:25741868|PMID:26467025|PMID:28492532 10049108 CV195752 NM_024426.6(WT1):c.1122A>G (p.Arg374=) variant DOID:2154 nephroblastoma IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Wilms tumor 1 PMID:25741868|PMID:26467025|PMID:28492532 10049108 CV195752 NM_024426.6(WT1):c.1122A>G (p.Arg374=) variant DOID:3764 Denys-Drash syndrome IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Drash syndrome PMID:25741868|PMID:26467025|PMID:28492532 10049108 CV195752 NM_024426.6(WT1):c.1122A>G (p.Arg374=) variant DOID:630 genetic disease IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 10049108 CV195752 NM_024426.6(WT1):c.1122A>G (p.Arg374=) variant DOID:9007195 Meacham Winn Culler Syndrome IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Meacham syndrome PMID:25741868|PMID:26467025|PMID:28492532 10049109 CV195754 NM_024809.5(TCTN2):c.810C>T (p.Asp270=) variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:25741868|PMID:28492532 10049109 CV195754 NM_024809.5(TCTN2):c.810C>T (p.Asp270=) variant DOID:0070122 Meckel syndrome 8 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Meckel syndrome type 8 PMID:25741868|PMID:28492532 10049109 CV195754 NM_024809.5(TCTN2):c.810C>T (p.Asp270=) variant DOID:0110993 Joubert syndrome 24 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Joubert syndrome 24 PMID:25741868|PMID:28492532 10049110 CV195757 NM_031433.4(MFRP):c.773-9C>T variant DOID:0060835 isolated microphthalmia 6 IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Microphthalmia, isolated 6 PMID:28492532 10049110 CV195757 NM_031433.4(MFRP):c.773-9C>T variant DOID:0060837 isolated microphthalmia 5 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Microphthalmia, isolated 5 PMID:28492532 10049110 CV195757 NM_031433.4(MFRP):c.773-9C>T variant DOID:8466 retinal degeneration IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Retinal degeneration PMID:28492532 10049111 CV195762 NM_032634.4(PIGO):c.2004G>A (p.Leu668=) variant DOID:0070434 hyperphosphatasia with impaired intellectual development syndrome 2 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 PMID:25741868|PMID:26467025|PMID:28492532 10049112 CV195767 NM_053025.4(MYLK):c.439C>T (p.Pro147Ser) variant DOID:0060610 megacystis-microcolon-intestinal hypoperistalsis syndrome IAGP D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Berdon syndrome PMID:24033266|PMID:25741868|PMID:28492532 10049112 CV195767 NM_053025.4(MYLK):c.439C>T (p.Pro147Ser) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:24033266|PMID:25741868|PMID:28492532 10049112 CV195767 NM_053025.4(MYLK):c.439C>T (p.Pro147Ser) variant DOID:9006750 Familial Thoracic Aortic Aneurysm 7 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: AORTIC DISSECTION, FAMILIAL, WITH OR WITHOUT AORTIC ANEURYSM PMID:24033266|PMID:25741868|PMID:28492532 10049116 CV195778 NM_139319.3(SLC17A8):c.858T>C (p.Tyr286=) variant DOID:0110555 autosomal dominant nonsyndromic deafness 25 IAGP D RGD:8554872 20250723 ClinVar ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 25 PMID:25741868|PMID:28492532 10049117 CV195780 NM_001371596.2(MFSD8):c.590G>A (p.Gly197Asp) variant DOID:0110722 neuronal ceroid lipofuscinosis 7 IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7 PMID:25741868|PMID:28492532|PMID:34828358 10049117 CV195780 NM_001371596.2(MFSD8):c.590G>A (p.Gly197Asp) variant DOID:0110726 neuronal ceroid lipofuscinosis 2 IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis PMID:25741868|PMID:28492532|PMID:34828358 10049117 CV195780 NM_001371596.2(MFSD8):c.590G>A (p.Gly197Asp) variant DOID:630 genetic disease IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:34828358 10049118 CV195787 NM_173660.5(DOK7):c.957del (p.Lys320fs) variant DOID:0110668 congenital myasthenic syndrome 10 IAGP D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 10 PMID:10222457|PMID:1483054|PMID:20012313|PMID:20458068|PMID:22884442|PMID:28024842|PMID:28492532|PMID:28716243 10049118 CV195787 NM_173660.5(DOK7):c.957del (p.Lys320fs) variant DOID:0111377 fetal akinesia deformation sequence syndrome 1 IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:10222457|PMID:1483054|PMID:20012313|PMID:20458068|PMID:22884442|PMID:28024842|PMID:28492532|PMID:28716243 10049120 CV195792 NM_198859.4(PRICKLE2):c.788-6T>C variant DOID:891 progressive myoclonus epilepsy IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:25741868|PMID:28492532 10049120 CV195792 NM_198859.4(PRICKLE2):c.788-6T>C variant DOID:9008631 progressive myoclonus epilepsy 5 IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 5 PMID:25741868|PMID:28492532 10049121 CV195796 NM_201596.3(CACNB2):c.873G>A (p.Leu291=) variant DOID:0110221 Brugada syndrome 4 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Brugada syndrome 4 PMID:24752249|PMID:25741868|PMID:28492532 10049122 CV195797 NM_207122.2(EXT2):c.1080-18T>A variant DOID:9003050 Multiple Exostoses Type I IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: EXT PMID:25741868|PMID:28492532 10049122 CV195797 NM_207122.2(EXT2):c.1080-18T>A variant DOID:9003693 Multiple Exostoses Type II IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Multiple exostoses type 2 PMID:25741868|PMID:28492532 10049122 CV195797 NM_207122.2(EXT2):c.1080-18T>A variant DOID:9009204 SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Seizures, scoliosis, and macrocephaly syndrome PMID:25741868|PMID:28492532 10049123 CV195807 NM_001164508.2(NEB):c.11004G>A (p.Thr3668=) variant DOID:0110928 nemaline myopathy 2 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 2 PMID:25741868|PMID:26467025|PMID:28492532 10049124 CV195809 NM_000094.4(COL7A1):c.5910C>T (p.Phe1970=) variant DOID:4959 epidermolysis bullosa dystrophica IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica PMID:25741868|PMID:28492532 10049126 CV195815 NM_182961.4(SYNE1):c.12000G>A (p.Ala4000=) variant DOID:0070249 autosomal dominant Emery-Dreifuss muscular dystrophy 4 IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant PMID:22162184|PMID:25741868|PMID:26467025|PMID:28492532 10049126 CV195815 NM_182961.4(SYNE1):c.12000G>A (p.Ala4000=) variant DOID:0111618 autosomal recessive spinocerebellar ataxia 8 IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 PMID:22162184|PMID:25741868|PMID:26467025|PMID:28492532 10049127 CV195826 NM_004006.3(DMD):c.10554-2A>G variant DOID:11723 Duchenne muscular dystrophy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:10533061|PMID:16199547|PMID:16770791|PMID:25007885|PMID:28492532 10049128 CV195829 NM_001035.3(RYR2):c.10935+18C>T variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:25741868|PMID:28492532 10049128 CV195829 NM_001035.3(RYR2):c.10935+18C>T variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868|PMID:28492532 10049129 CV195830 NM_005529.7(HSPG2):c.10498G>A (p.Val3500Met) variant DOID:0090005 Schwartz-Jampel syndrome 1 IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Schwartz-Jampel syndrome PMID:25504735|PMID:25741868|PMID:26467025|PMID:28492532 10049129 CV195830 NM_005529.7(HSPG2):c.10498G>A (p.Val3500Met) variant DOID:65 connective tissue disease IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25504735|PMID:25741868|PMID:26467025|PMID:28492532 10049129 CV195830 NM_005529.7(HSPG2):c.10498G>A (p.Val3500Met) variant DOID:9005084 Kniest Like Dysplasia Lethal IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Lethal Kniest-like syndrome PMID:25504735|PMID:25741868|PMID:26467025|PMID:28492532 10049130 CV195841 NM_005529.7(HSPG2):c.10937G>A (p.Arg3646His) variant DOID:0090005 Schwartz-Jampel syndrome 1 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Schwartz-Jampel syndrome PMID:25741868|PMID:26467025|PMID:28492532 10049130 CV195841 NM_005529.7(HSPG2):c.10937G>A (p.Arg3646His) variant DOID:9005084 Kniest Like Dysplasia Lethal IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Lethal Kniest-like syndrome PMID:25741868|PMID:26467025|PMID:28492532 10049131 CV195844 NM_000018.4(ACADVL):c.637G>A (p.Ala213Thr) variant DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:10077518|PMID:12213615|PMID:24801231|PMID:25741868|PMID:28492532|PMID:28871440 10049131 CV195844 NM_000018.4(ACADVL):c.637G>A (p.Ala213Thr) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10077518|PMID:12213615|PMID:24801231|PMID:25741868|PMID:28492532|PMID:28871440 10049132 CV195845 NM_000019.4(ACAT1):c.765A>T (p.Glu255Asp) variant DOID:14723 beta-ketothiolase deficiency IAGP D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Deficiency of acetyl-CoA acetyltransferase PMID:25741868|PMID:28255778|PMID:31268215 10049133 CV195846 NM_000019.4(ACAT1):c.766T>A (p.Tyr256Asn) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10049134 CV195847 NM_000030.3(AGXT):c.836T>C (p.Ile279Thr) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:15963748|PMID:17460142|PMID:19479957|PMID:24385516|PMID:24988064|PMID:25644115|PMID:25741868|PMID:28492532 10049136 CV195855 NM_000199.5(SGSH):c.1027dup (p.Leu343fs) variant DOID:0111395 mucopolysaccharidosis type IIIA IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-A PMID:10727844|PMID:11182930|PMID:11343308|PMID:15146460|PMID:21204211|PMID:22976768|PMID:24314109|PMID:25741868|PMID:28492532|PMID:9285796 10049136 CV195855 NM_000199.5(SGSH):c.1027dup (p.Leu343fs) variant DOID:12801 mucopolysaccharidosis III IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Sanfilippo syndrome PMID:10727844|PMID:11182930|PMID:11343308|PMID:15146460|PMID:21204211|PMID:22976768|PMID:24314109|PMID:25741868|PMID:28492532|PMID:9285796 10049136 CV195855 NM_000199.5(SGSH):c.1027dup (p.Leu343fs) variant DOID:630 genetic disease IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10727844|PMID:11182930|PMID:11343308|PMID:15146460|PMID:21204211|PMID:22976768|PMID:24314109|PMID:25741868|PMID:28492532|PMID:9285796 10049137 CV195856 NM_000202.8(IDS):c.1007-8T>G variant DOID:12799 mucopolysaccharidosis II IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-II PMID:1303211|PMID:25741868|PMID:7887413|PMID:8111411 10049138 CV195858 NM_000208.4(INSR):c.1650G>A (p.Ala550=) AND Insulin-resistant diabetes mellitus variant DOID:0050470 Donohue syndrome IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Leprechaunism syndrome PMID:10933564|PMID:25741868|PMID:28492532 10049138 CV195858 NM_000208.4(INSR):c.1650G>A (p.Ala550=) AND Insulin-resistant diabetes mellitus variant DOID:9001751 Insulin-Resistant Diabetes Mellitus, with Acanthosis Nigricans IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: IRAN, TYPE A PMID:10933564|PMID:25741868|PMID:28492532 10049138 CV195858 NM_000208.4(INSR):c.1650G>A (p.Ala550=) AND Insulin-resistant diabetes mellitus variant DOID:9001863 PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Pineal hyperplasia AND diabetes mellitus syndrome PMID:10933564|PMID:25741868|PMID:28492532 10049138 CV195858 NM_000208.4(INSR):c.1650G>A (p.Ala550=) AND Insulin-resistant diabetes mellitus variant DOID:9007692 Insulin Resistance IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Insulin-resistance syndrome type A PMID:10933564|PMID:25741868|PMID:28492532 10049140 CV195862 NM_000240.4(MAOA):c.825G>A (p.Pro275=) variant DOID:0060693 Brunner syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Monoamine oxidase A deficiency PMID:25741868|PMID:28492532 10049140 CV195862 NM_000240.4(MAOA):c.825G>A (p.Pro275=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10049141 CV195863 NM_000271.5(NPC1):c.1142G>A (p.Trp381Ter) variant DOID:0070113 Niemann-Pick disease type C1 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease type C1 PMID:17160617 10049142 CV195864 NM_001128178.3(NPHP1):c.771+59G>A variant DOID:0050576 Senior-Loken syndrome IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Juvenile nephronophthisis with Leber amaurosis PMID:25741868|PMID:28492532 10049142 CV195864 NM_001128178.3(NPHP1):c.771+59G>A variant DOID:0110999 Joubert syndrome 4 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Joubert syndrome 4 PMID:25741868|PMID:28492532 10049142 CV195864 NM_001128178.3(NPHP1):c.771+59G>A variant DOID:0111112 nephronophthisis 1 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Nephronophthisis 1 PMID:25741868|PMID:28492532 10049142 CV195864 NM_001128178.3(NPHP1):c.771+59G>A variant DOID:12712 nephronophthisis IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:25741868|PMID:28492532 10049142 CV195864 NM_001128178.3(NPHP1):c.771+59G>A variant DOID:9004365 Senior-Loken Syndrome 1 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 1 PMID:25741868|PMID:28492532 10049145 CV195869 NM_000282.4(PCCA):c.627A>G (p.Ala209=) variant DOID:14701 propionic acidemia IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:24033266|PMID:25741868|PMID:28492532 10049146 CV195871 NM_000288.4(PEX7):c.748-5dup variant DOID:0081438 Peroxisome biogenesis disorder 9B IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 9B PMID:25741868|PMID:28492532 10049146 CV195871 NM_000288.4(PEX7):c.748-5dup variant DOID:65 connective tissue disease IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 10049147 CV195872 NM_000288.4(PEX7):c.748-5del variant DOID:0081438 Peroxisome biogenesis disorder 9B IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 9B PMID:28492532 10049148 CV195873 NM_000292.3(PHKA2):c.742A>C (p.Arg248=) variant DOID:0111042 glycogen storage disease IXA IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Glycogen storage disease type IXa1 PMID:25741868|PMID:28492532 10049150 CV195881 NM_000350.3(ABCA4):c.880C>T (p.Gln294Ter) variant DOID:0110354 retinitis pigmentosa 19 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 19 PMID:10958761|PMID:24938718|PMID:25312043|PMID:25741868|PMID:26780318|PMID:28492532|PMID:29975949 10049150 CV195881 NM_000350.3(ABCA4):c.880C>T (p.Gln294Ter) variant DOID:0111013 cone-rod dystrophy 3 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 3 PMID:10958761|PMID:24938718|PMID:25312043|PMID:25741868|PMID:26780318|PMID:28492532|PMID:29975949 10049153 CV195887 NM_000404.4(GLB1):c.809A>G (p.Tyr270Cys) variant DOID:0111392 mucopolysaccharidosis type IVB IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-B PMID:11511921|PMID:19472408|PMID:21520340|PMID:28492532 10049154 CV195889 NM_001278116.2(L1CAM):c.924C>T (p.Gly308=) variant DOID:0060246 MASA syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: X-linked hydrocephalus syndrome PMID:25039760|PMID:25741868|PMID:28492532|PMID:9643285 10049154 CV195889 NM_001278116.2(L1CAM):c.924C>T (p.Gly308=) variant DOID:10908 hydrocephalus IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: X-linked hydrocephalus PMID:25039760|PMID:25741868|PMID:28492532|PMID:9643285 10049154 CV195889 NM_001278116.2(L1CAM):c.924C>T (p.Gly308=) variant DOID:607 paraplegia IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:25039760|PMID:25741868|PMID:28492532|PMID:9643285 10049154 CV195889 NM_001278116.2(L1CAM):c.924C>T (p.Gly308=) variant DOID:9005824 X-Linked Hydrocephalus, with Congenital Idiopathic Intestinal Pseudoobstruction IAGP D RGD:8554872 20260113 ClinVar ClinVar Annotator: match by term: X-Linked Hydrocephalus with Stenosis of the Aqueduct of Sylvius PMID:25039760|PMID:25741868|PMID:28492532|PMID:9643285 10049154 CV195889 NM_001278116.2(L1CAM):c.924C>T (p.Gly308=) variant DOID:9006382 X-Linked Hydrocephalus IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Aqueductal stenosis, X-linked PMID:25039760|PMID:25741868|PMID:28492532|PMID:9643285 10049156 CV190193 NM_000487.6(ARSA):c.1408_1418del (p.Ala470fs) variant DOID:10581 metachromatic leukodystrophy IAGP D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy, late infantile PMID:1676699 10049159 CV195905 NM_000552.5(VWF):c.954T>A (p.Asn318Lys) variant DOID:0060573 von Willebrand's disease 1 IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: von Willebrand disease type 1 PMID:25741868 10049159 CV195905 NM_000552.5(VWF):c.954T>A (p.Asn318Lys) variant DOID:0060574 von Willebrand's disease 2 IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: von Willebrand disease type 2 PMID:25741868 10049159 CV195905 NM_000552.5(VWF):c.954T>A (p.Asn318Lys) variant DOID:0111054 von Willebrand's disease 3 IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: von Willebrand disease type 3 PMID:25741868 10049159 CV195905 NM_000552.5(VWF):c.954T>A (p.Asn318Lys) variant DOID:12531 von Willebrand's disease IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: von Willebrand disorder PMID:25741868 10049160 CV195912 NM_007325.5(GRIA3):c.1181G>A (p.Arg394Gln) variant DOID:0060823 syndromic X-linked intellectual disability 94 IAGP D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, SYNDROMIC 29 PMID:25741868|PMID:28492532 10049160 CV195912 NM_007325.5(GRIA3):c.1181G>A (p.Arg394Gln) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10049161 CV195913 NM_000843.4(GRM6):c.2054C>G (p.Ser685Trp) variant DOID:0110865 congenital stationary night blindness 1B IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness 1B PMID:25741868|PMID:28492532 10049162 CV195916 NM_000157.4(GBA1):c.762-18T>A variant DOID:12217 Lewy body dementia IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lewy body dementia PMID:25741868 10049163 CV195917 NM_000157.4(GBA1):c.896T>C (p.Ile299Thr) variant DOID:12217 Lewy body dementia IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lewy body dementia PMID:15967693|PMID:25741868|PMID:29423829|PMID:29656334 10049163 CV195917 NM_000157.4(GBA1):c.896T>C (p.Ile299Thr) variant DOID:1926 Gaucher's disease IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Gaucher disease PMID:15967693|PMID:25741868|PMID:29423829|PMID:29656334 10049164 CV195918 NM_020779.4(WDR35):c.770T>C (p.Val257Ala) variant DOID:0080804 cranioectodermal dysplasia 2 IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 PMID:25741868|PMID:28492532 10049164 CV195918 NM_020779.4(WDR35):c.770T>C (p.Val257Ala) variant DOID:0110090 short-rib thoracic dysplasia 7 with or without polydactyly IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 7 with or without polydactyly PMID:25741868|PMID:28492532 10049164 CV195918 NM_020779.4(WDR35):c.770T>C (p.Val257Ala) variant DOID:65 connective tissue disease IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 10049165 CV195933 NM_001360.3(DHCR7):c.907G>A (p.Gly303Arg) variant DOID:14692 Smith-Lemli-Opitz syndrome IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Smith-Lemli-Opitz syndrome PMID:16044199|PMID:20052364|PMID:23042628|PMID:25307054|PMID:25741868|PMID:28250423|PMID:28492532|PMID:28503313|PMID:31178897 10049165 CV195933 NM_001360.3(DHCR7):c.907G>A (p.Gly303Arg) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16044199|PMID:20052364|PMID:23042628|PMID:25307054|PMID:25741868|PMID:28250423|PMID:28492532|PMID:28503313|PMID:31178897 10049166 CV195938 NM_002180.3(IGHMBP2):c.1104C>T (p.Tyr368=) variant DOID:0111064 autosomal recessive distal hereditary motor neuronopathy 1 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy, distal, autosomal recessive, 1 PMID:25741868|PMID:26467025|PMID:28492532 10049166 CV195938 NM_002180.3(IGHMBP2):c.1104C>T (p.Tyr368=) variant DOID:10595 Charcot-Marie-Tooth disease IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:25741868|PMID:26467025|PMID:28492532 10049166 CV195938 NM_002180.3(IGHMBP2):c.1104C>T (p.Tyr368=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 10049167 CV195940 NM_001365902.3(NFIX):c.1140G>A (p.Ser380=) variant DOID:0050858 Marshall-Smith syndrome IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Marshall-Smith syndrome PMID:25741868|PMID:28492532 10049169 CV195949 NM_004260.4(RECQL4):c.1395G>A (p.Thr465=) variant DOID:0050654 Baller-Gerold syndrome IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Baller-Gerold syndrome PMID:25741868|PMID:28492532 10049169 CV195949 NM_004260.4(RECQL4):c.1395G>A (p.Thr465=) variant DOID:630 genetic disease IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10049169 CV195949 NM_004260.4(RECQL4):c.1395G>A (p.Thr465=) variant DOID:9005992 Rothmund-Thomson Syndrome Type 2 IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Rothmund-Thomson syndrome type 2 PMID:25741868|PMID:28492532 10049169 CV195949 NM_004260.4(RECQL4):c.1395G>A (p.Thr465=) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532 10049171 CV195957 NM_004385.5(VCAN):c.6723A>G (p.Arg2241=) variant DOID:9005830 Hyaloideoretinal Degeneration of Wagner IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Wagner syndrome PMID:25741868|PMID:28492532 10049172 CV195958 NM_004385.5(VCAN):c.6902T>A (p.Phe2301Tyr) variant DOID:9005830 Hyaloideoretinal Degeneration of Wagner IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Wagner syndrome PMID:25741868|PMID:28492532 10049173 CV195959 NM_004385.5(VCAN):c.8622G>A (p.Ala2874=) variant DOID:9005830 Hyaloideoretinal Degeneration of Wagner IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Wagner syndrome PMID:25741868|PMID:28492532 10049174 CV195960 NM_004385.5(VCAN):c.9104C>T (p.Ala3035Val) variant DOID:9005830 Hyaloideoretinal Degeneration of Wagner IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Wagner syndrome PMID:25741868|PMID:28492532 10049175 CV195962 NM_004385.5(VCAN):c.8809G>T (p.Asp2937Tyr) variant DOID:9005830 Hyaloideoretinal Degeneration of Wagner IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Wagner syndrome PMID:25741868|PMID:28492532 10049176 CV195963 NM_004385.5(VCAN):c.4323G>A (p.Gln1441=) variant DOID:9005830 Hyaloideoretinal Degeneration of Wagner IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Wagner syndrome PMID:25741868|PMID:28492532 10049177 CV195968 NM_004463.3(FGD1):c.1617G>A (p.Pro539=) variant DOID:630 genetic disease IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10049178 CV195969 NM_004530.6(MMP2):c.1287del (p.Asn430fs) variant DOID:9006569 Osteolysis Hereditary Multicentric IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Multicentric osteolysis, nodulosis and arthropathy PMID:25741868 10049180 CV195977 NM_001374353.1(GLI2):c.1243G>A (p.Val415Met) variant DOID:0110873 holoprosencephaly 9 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 9 PMID:25741868|PMID:28492532 10049181 CV195978 NM_001377295.2(GNAT2):c.933T>C (p.Asn311=) variant DOID:0110010 achromatopsia 4 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Achromatopsia 4 PMID:28492532 10049182 CV195980 NM_005477.3(HCN4):c.3587G>A (p.Arg1196His) variant DOID:0110225 Brugada syndrome 8 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Brugada syndrome 8 PMID:28492532 10049183 CV195981 NM_005477.3(HCN4):c.2601C>A (p.Ala867=) variant DOID:0110225 Brugada syndrome 8 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Brugada syndrome 8 PMID:25741868|PMID:26467025|PMID:28492532 10049184 CV195986 NM_005477.3(HCN4):c.3350C>T (p.Pro1117Leu) variant DOID:0110225 Brugada syndrome 8 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Brugada syndrome 8 PMID:25741868|PMID:28492532 10049184 CV195986 NM_005477.3(HCN4):c.3350C>T (p.Pro1117Leu) variant DOID:9003749 Sick Sinus Syndrome 2, Autosomal Dominant IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Sick sinus syndrome 2, autosomal dominant PMID:25741868|PMID:28492532 10049185 CV195987 NM_005477.3(HCN4):c.2979G>A (p.Thr993=) variant DOID:0110225 Brugada syndrome 8 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Brugada syndrome 8 PMID:25741868|PMID:28492532 10049186 CV195995 NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys) variant DOID:0080584 autosomal dominant Wolfram syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Wolfram-like syndrome, autosomal dominant PMID:11244483|PMID:12754709|PMID:15277431|PMID:17568405|PMID:19344068|PMID:21446023|PMID:22226368|PMID:23596069|PMID:24033266|PMID:24890733|PMID:25133958|PMID:25741868|PMID:26435059|PMID:27395765|PMID:28432734|PMID:28492532|PMID:29207974|PMID:30014265|PMID:30245029|PMID:30957632|PMID:31264968|PMID:31567480|PMID:31980526|PMID:33046911|PMID:33763535|PMID:34404380|PMID:35018440|PMID:36098976|PMID:36208030 10049186 CV195995 NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys) variant DOID:0110241 cataract 41 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: CATARACT 41, CONGENITAL NUCLEAR TYPE PMID:11244483|PMID:12754709|PMID:15277431|PMID:17568405|PMID:19344068|PMID:21446023|PMID:22226368|PMID:23596069|PMID:24033266|PMID:24890733|PMID:25133958|PMID:25741868|PMID:26435059|PMID:27395765|PMID:28432734|PMID:28492532|PMID:29207974|PMID:30014265|PMID:30245029|PMID:30957632|PMID:31264968|PMID:31567480|PMID:31980526|PMID:33046911|PMID:33763535|PMID:34404380|PMID:35018440|PMID:36098976|PMID:36208030 10049186 CV195995 NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys) variant DOID:0110584 autosomal dominant nonsyndromic deafness 6 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 6 PMID:11244483|PMID:12754709|PMID:15277431|PMID:17568405|PMID:19344068|PMID:21446023|PMID:22226368|PMID:23596069|PMID:24033266|PMID:24890733|PMID:25133958|PMID:25741868|PMID:26435059|PMID:27395765|PMID:28432734|PMID:28492532|PMID:29207974|PMID:30014265|PMID:30245029|PMID:30957632|PMID:31264968|PMID:31567480|PMID:31980526|PMID:33046911|PMID:33763535|PMID:34404380|PMID:35018440|PMID:36098976|PMID:36208030 10049186 CV195995 NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys) variant DOID:0110629 Wolfram syndrome 1 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Wolfram syndrome 1 PMID:11244483|PMID:12754709|PMID:15277431|PMID:17568405|PMID:19344068|PMID:21446023|PMID:22226368|PMID:23596069|PMID:24033266|PMID:24890733|PMID:25133958|PMID:25741868|PMID:26435059|PMID:27395765|PMID:28432734|PMID:28492532|PMID:29207974|PMID:30014265|PMID:30245029|PMID:30957632|PMID:31264968|PMID:31567480|PMID:31980526|PMID:33046911|PMID:33763535|PMID:34404380|PMID:35018440|PMID:36098976|PMID:36208030 10049186 CV195995 NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys) variant DOID:0111099 maturity-onset diabetes of the young type 1 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:11244483|PMID:12754709|PMID:15277431|PMID:17568405|PMID:19344068|PMID:21446023|PMID:22226368|PMID:23596069|PMID:24033266|PMID:24890733|PMID:25133958|PMID:25741868|PMID:26435059|PMID:27395765|PMID:28432734|PMID:28492532|PMID:29207974|PMID:30014265|PMID:30245029|PMID:30957632|PMID:31264968|PMID:31567480|PMID:31980526|PMID:33046911|PMID:33763535|PMID:34404380|PMID:35018440|PMID:36098976|PMID:36208030 10049186 CV195995 NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys) variant DOID:10632 Wolfram syndrome IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Wolfram syndrome PMID:11244483|PMID:12754709|PMID:15277431|PMID:17568405|PMID:19344068|PMID:21446023|PMID:22226368|PMID:23596069|PMID:24033266|PMID:24890733|PMID:25133958|PMID:25741868|PMID:26435059|PMID:27395765|PMID:28432734|PMID:28492532|PMID:29207974|PMID:30014265|PMID:30245029|PMID:30957632|PMID:31264968|PMID:31567480|PMID:31980526|PMID:33046911|PMID:33763535|PMID:34404380|PMID:35018440|PMID:36098976|PMID:36208030 10049186 CV195995 NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys) variant DOID:5723 optic atrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:11244483|PMID:12754709|PMID:15277431|PMID:17568405|PMID:19344068|PMID:21446023|PMID:22226368|PMID:23596069|PMID:24033266|PMID:24890733|PMID:25133958|PMID:25741868|PMID:26435059|PMID:27395765|PMID:28432734|PMID:28492532|PMID:29207974|PMID:30014265|PMID:30245029|PMID:30957632|PMID:31264968|PMID:31567480|PMID:31980526|PMID:33046911|PMID:33763535|PMID:34404380|PMID:35018440|PMID:36098976|PMID:36208030 10049186 CV195995 NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:11244483|PMID:12754709|PMID:15277431|PMID:17568405|PMID:19344068|PMID:21446023|PMID:22226368|PMID:23596069|PMID:24033266|PMID:24890733|PMID:25133958|PMID:25741868|PMID:26435059|PMID:27395765|PMID:28432734|PMID:28492532|PMID:29207974|PMID:30014265|PMID:30245029|PMID:30957632|PMID:31264968|PMID:31567480|PMID:31980526|PMID:33046911|PMID:33763535|PMID:34404380|PMID:35018440|PMID:36098976|PMID:36208030 10049186 CV195995 NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys) variant DOID:9351 diabetes mellitus IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Diabetes mellitus PMID:11244483|PMID:12754709|PMID:15277431|PMID:17568405|PMID:19344068|PMID:21446023|PMID:22226368|PMID:23596069|PMID:24033266|PMID:24890733|PMID:25133958|PMID:25741868|PMID:26435059|PMID:27395765|PMID:28432734|PMID:28492532|PMID:29207974|PMID:30014265|PMID:30245029|PMID:30957632|PMID:31264968|PMID:31567480|PMID:31980526|PMID:33046911|PMID:33763535|PMID:34404380|PMID:35018440|PMID:36098976|PMID:36208030 10049186 CV195995 NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys) variant DOID:9352 type 2 diabetes mellitus IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Type II diabetes mellitus PMID:11244483|PMID:12754709|PMID:15277431|PMID:17568405|PMID:19344068|PMID:21446023|PMID:22226368|PMID:23596069|PMID:24033266|PMID:24890733|PMID:25133958|PMID:25741868|PMID:26435059|PMID:27395765|PMID:28432734|PMID:28492532|PMID:29207974|PMID:30014265|PMID:30245029|PMID:30957632|PMID:31264968|PMID:31567480|PMID:31980526|PMID:33046911|PMID:33763535|PMID:34404380|PMID:35018440|PMID:36098976|PMID:36208030 10049187 CV196002 NM_006516.4(SLC2A1):c.997C>T (p.Arg333Trp) variant DOID:0070560 glucose transporter type 1 deficiency syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glucose transporter protein syndrome PMID:10980529|PMID:11477212|PMID:16949238|PMID:17052934|PMID:19630075|PMID:20129935|PMID:20417043|PMID:21069159|PMID:21555602|PMID:23448551|PMID:25487684|PMID:25741868|PMID:26193382|PMID:26598494|PMID:28492532 10049187 CV196002 NM_006516.4(SLC2A1):c.997C>T (p.Arg333Trp) variant DOID:0070561 glucose transporter type 1 deficiency syndrome 1 IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: De Vivo disease PMID:10980529|PMID:11477212|PMID:16949238|PMID:17052934|PMID:19630075|PMID:20129935|PMID:20417043|PMID:21069159|PMID:21555602|PMID:23448551|PMID:25487684|PMID:25741868|PMID:26193382|PMID:26598494|PMID:28492532 10049187 CV196002 NM_006516.4(SLC2A1):c.997C>T (p.Arg333Trp) variant DOID:0090044 dystonia 9 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CHOREOATHETOSIS, KINESIGENIC, WITH EPISODIC ATAXIA AND SPASTICITY PMID:10980529|PMID:11477212|PMID:16949238|PMID:17052934|PMID:19630075|PMID:20129935|PMID:20417043|PMID:21069159|PMID:21555602|PMID:23448551|PMID:25487684|PMID:25741868|PMID:26193382|PMID:26598494|PMID:28492532 10049187 CV196002 NM_006516.4(SLC2A1):c.997C>T (p.Arg333Trp) variant DOID:0090045 glucose transporter type 1 deficiency syndrome 2 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Childhood onset GLUT1 deficiency syndrome 2 PMID:10980529|PMID:11477212|PMID:16949238|PMID:17052934|PMID:19630075|PMID:20129935|PMID:20417043|PMID:21069159|PMID:21555602|PMID:23448551|PMID:25487684|PMID:25741868|PMID:26193382|PMID:26598494|PMID:28492532 10049187 CV196002 NM_006516.4(SLC2A1):c.997C>T (p.Arg333Trp) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10980529|PMID:11477212|PMID:16949238|PMID:17052934|PMID:19630075|PMID:20129935|PMID:20417043|PMID:21069159|PMID:21555602|PMID:23448551|PMID:25487684|PMID:25741868|PMID:26193382|PMID:26598494|PMID:28492532 10049187 CV196002 NM_006516.4(SLC2A1):c.997C>T (p.Arg333Trp) variant DOID:9002035 Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Stomatin-deficient cryohydrocytosis with neurologic defects PMID:10980529|PMID:11477212|PMID:16949238|PMID:17052934|PMID:19630075|PMID:20129935|PMID:20417043|PMID:21069159|PMID:21555602|PMID:23448551|PMID:25487684|PMID:25741868|PMID:26193382|PMID:26598494|PMID:28492532 10049187 CV196002 NM_006516.4(SLC2A1):c.997C>T (p.Arg333Trp) variant DOID:9009304 Idiopathic Generalized Epilepsy 12 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 12 PMID:10980529|PMID:11477212|PMID:16949238|PMID:17052934|PMID:19630075|PMID:20129935|PMID:20417043|PMID:21069159|PMID:21555602|PMID:23448551|PMID:25487684|PMID:25741868|PMID:26193382|PMID:26598494|PMID:28492532 10049189 CV196015 NM_014244.5(ADAMTS2):c.1281C>T (p.Asp427=) variant DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type vii, autosomal recessive PMID:28492532 10049191 CV196027 NM_014795.4(ZEB2):c.2701C>T (p.Gln901Ter) variant DOID:0060485 Mowat-Wilson syndrome IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Mowat-Wilson syndrome PMID:23322667|PMID:25741868|PMID:29300384 10049192 CV196032 NM_001378454.1(ALMS1):c.3732G>A (p.Lys1244=) variant DOID:0050473 Alstrom syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Alstrom syndrome PMID:28492532 10049193 CV196034 NM_001378454.1(ALMS1):c.5463G>A (p.Pro1821=) variant DOID:0050473 Alstrom syndrome IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Alstrom's syndrome PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10049195 CV196043 NM_001353214.3(DYM):c.621-2A>G variant DOID:0081270 Smith-McCort dysplasia 1 IAGP D RGD:8554872 20221122 ClinVar ClinVar Annotator: match by term: Smith-McCort dysplasia 1 PMID:12491225|PMID:16097008 10049195 CV196043 NM_001353214.3(DYM):c.621-2A>G variant DOID:0111167 Dyggve-Melchior-Clausen disease IAGP D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Dyggve-Melchior-Clausen syndrome PMID:12491225|PMID:16097008 10049196 CV196049 NM_018297.4(NGLY1):c.1260+7T>G variant DOID:0060991 congenital disorder of deglycosylation IAGP D RGD:8554872 20240820 ClinVar ClinVar Annotator: match by term: Congenital disorder of deglycosylation PMID:25741868|PMID:28492532 10049197 CV196050 NM_001378120.1(MBD5):c.340_347del (p.Lys114fs) variant DOID:0070031 autosomal dominant intellectual developmental disorder 1 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Mental retardation, autosomal dominant 1 10049198 CV196055 NM_020631.6(PLEKHG5):c.713C>G (p.Thr238Ser) variant DOID:0110198 Charcot-Marie-Tooth disease recessive intermediate C IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease recessive intermediate C PMID:25741868|PMID:28492532 10049198 CV196055 NM_020631.6(PLEKHG5):c.713C>G (p.Thr238Ser) variant DOID:0111213 autosomal recessive distal hereditary motor neuronopathy 4 IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Autosomal recessive lower motor neuron disease with childhood onset PMID:25741868|PMID:28492532 10049199 CV196056 NM_020631.6(PLEKHG5):c.691G>A (p.Gly231Ser) variant DOID:0110198 Charcot-Marie-Tooth disease recessive intermediate C IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease recessive intermediate C PMID:25741868|PMID:28492532 10049199 CV196056 NM_020631.6(PLEKHG5):c.691G>A (p.Gly231Ser) variant DOID:0111213 autosomal recessive distal hereditary motor neuronopathy 4 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 4 PMID:25741868|PMID:28492532 10049200 CV196058 NM_021072.4(HCN1):c.2172C>T (p.Ala724=) variant DOID:0080429 developmental and epileptic encephalopathy 24 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 24 PMID:25741868|PMID:26467025|PMID:28492532 10049200 CV196058 NM_021072.4(HCN1):c.2172C>T (p.Ala724=) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:25741868|PMID:26467025|PMID:28492532 10049200 CV196058 NM_021072.4(HCN1):c.2172C>T (p.Ala724=) variant DOID:630 genetic disease IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 10049201 CV196062 NM_022437.3(ABCG8):c.1199C>A (p.Thr400Lys) variant DOID:0070634 sitosterolemia 1 IAGP D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Sitosterolemia 1 PMID:25741868|PMID:28492532 10049202 CV196063 NM_022455.5(NSD1):c.4217_4220del (p.Arg1406fs) variant DOID:14748 Sotos syndrome IAGP D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Sotos syndrome PMID:22924495|PMID:25741868 10049204 CV196072 NM_025074.7(FRAS1):c.776T>G (p.Leu259Arg) variant DOID:0110839 Usher syndrome type 2C IAGP D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Usher syndrome, type 2C PMID:21900877|PMID:25741868|PMID:28492532 10049204 CV196072 NM_025074.7(FRAS1):c.776T>G (p.Leu259Arg) variant DOID:0111405 Fraser syndrome 1 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Fraser syndrome 1 PMID:21900877|PMID:25741868|PMID:28492532 10049205 CV196081 NM_153252.5(BRWD3):c.769G>A (p.Val257Ile) variant DOID:0112045 non-syndromic X-linked intellectual disability 93 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Mental retardation, X-linked 93 PMID:25741868|PMID:28492532 10049205 CV196081 NM_153252.5(BRWD3):c.769G>A (p.Val257Ile) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10049207 CV196101 NM_000540.3(RYR1):c.11360-9T>A variant DOID:0080991 congenital myopathy 1B IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Multiminicore myopathy PMID:25741868|PMID:28492532 10049207 CV196101 NM_000540.3(RYR1):c.11360-9T>A variant DOID:3529 congenital myopathy 1A IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Myopathy, Central Core PMID:25741868|PMID:28492532 10049207 CV196101 NM_000540.3(RYR1):c.11360-9T>A variant DOID:8545 malignant hyperthermia IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Malignant hyperthermia susceptibility PMID:25741868|PMID:28492532 10049207 CV196101 NM_000540.3(RYR1):c.11360-9T>A variant DOID:9005001 Congenital Neuromuscular Disease, with Uniform Type 1 Fiber IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Neuromuscular disease, congenital, with uniform type 1 fiber PMID:25741868|PMID:28492532 10049207 CV196101 NM_000540.3(RYR1):c.11360-9T>A variant DOID:9005320 Malignant Fever IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Pharmacogenic myopathy PMID:25741868|PMID:28492532 10049208 CV196106 NM_001377.3(DYNC2H1):c.11681C>G (p.Ser3894Ter) variant DOID:0050592 asphyxiating thoracic dystrophy IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:23339108|PMID:28492532|PMID:32753734|PMID:33755199 10049209 CV196113 NM_182914.3(SYNE2):c.15248A>G (p.Asp5083Gly) variant DOID:0070250 autosomal dominant Emery-Dreifuss muscular dystrophy 5 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 5, autosomal dominant PMID:25587064|PMID:26467025|PMID:28492532 10049210 CV196117 NM_001377.3(DYNC2H1):c.12156+1G>A variant DOID:0110087 asphyxiating thoracic dystrophy 3 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 PMID:25741868 10049211 CV196119 NM_001164508.2(NEB):c.17635-3del variant DOID:0110928 nemaline myopathy 2 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 2 PMID:28492532 10049211 CV196119 NM_001164508.2(NEB):c.17635-3del variant DOID:3191 nemaline myopathy IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Nemaline Myopathy, Recessive PMID:28492532 10049212 CV196123 NM_005529.7(HSPG2):c.11717G>A (p.Arg3906Gln) variant DOID:0090005 Schwartz-Jampel syndrome 1 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: HSPG2-related condition PMID:25741868|PMID:26467025|PMID:28492532 10049212 CV196123 NM_005529.7(HSPG2):c.11717G>A (p.Arg3906Gln) variant DOID:630 genetic disease IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 10049213 CV196127 NM_001164508.2(NEB):c.17887G>A (p.Val5963Ile) variant DOID:0110928 nemaline myopathy 2 IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 2 PMID:25741868|PMID:26467025|PMID:28492532 10049215 CV196131 NM_005529.7(HSPG2):c.12004C>G (p.Leu4002Val) variant DOID:0090005 Schwartz-Jampel syndrome 1 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Schwartz-Jampel syndrome PMID:25741868|PMID:26467025|PMID:28492532 10049215 CV196131 NM_005529.7(HSPG2):c.12004C>G (p.Leu4002Val) variant DOID:9005084 Kniest Like Dysplasia Lethal IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Lethal Kniest-like syndrome PMID:25741868|PMID:26467025|PMID:28492532 10049217 CV196145 NM_000036.3(AMPD1):c.1122G>A (p.Lys374=) variant DOID:9008558 MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Muscle AMP deaminase deficiency PMID:25741868|PMID:28492532 10049218 CV196148 NM_000071.3(CBS):c.785C>T (p.Thr262Met) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10338090|PMID:14722927|PMID:17540596|PMID:20066033|PMID:22267502|PMID:25087612|PMID:25741868|PMID:28492532|PMID:28835823|PMID:32245022|PMID:33057012|PMID:9361025|PMID:9889017 10049218 CV196148 NM_000071.3(CBS):c.785C>T (p.Thr262Met) variant DOID:9263 homocystinuria IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Homocystinuria PMID:10338090|PMID:14722927|PMID:17540596|PMID:20066033|PMID:22267502|PMID:25087612|PMID:25741868|PMID:28492532|PMID:28835823|PMID:32245022|PMID:33057012|PMID:9361025|PMID:9889017 10049219 CV196153 NM_000153.4(GALC):c.913A>G (p.Ile305Val) variant DOID:10587 Krabbe disease IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency PMID:28492532 10049220 CV196155 NM_000180.4(GUCY2D):c.1773del (p.Asn591fs) variant DOID:0110078 Leber congenital amaurosis 1 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 1 PMID:10951519|PMID:11328726|PMID:25741868|PMID:28492532 10049220 CV196155 NM_000180.4(GUCY2D):c.1773del (p.Asn591fs) variant DOID:0111011 cone-rod dystrophy 6 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 6 PMID:10951519|PMID:11328726|PMID:25741868|PMID:28492532 10049222 CV196161 NM_000271.5(NPC1):c.1532C>T (p.Thr511Met) variant DOID:0070113 Niemann-Pick disease type C1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C1 PMID:16126423|PMID:25741868|PMID:25764212|PMID:28492532 10049223 CV196162 NM_000271.5(NPC1):c.1503C>T (p.Asp501=) variant DOID:0070113 Niemann-Pick disease type C1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C1 PMID:12955717|PMID:25741868|PMID:28492532 10049224 CV196163 NM_001128178.3(NPHP1):c.772-17G>A variant DOID:12712 nephronophthisis IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:25741868|PMID:28492532 10049225 CV196170 NM_000310.4(PPT1):c.810del (p.Gly270_Leu271insTer) variant DOID:0110721 neuronal ceroid lipofuscinosis 1 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 1 PMID:28492532 10049226 CV196176 NM_001008216.2(GALE):c.772C>T (p.Leu258=) variant DOID:0111458 galactose epimerase deficiency IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: UDPglucose-4-epimerase deficiency PMID:25741868|PMID:28492532 10049228 CV196178 NM_000414.4(HSD17B4):c.666C>G (p.Val222=) variant DOID:0050857 Perrault syndrome IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Perrault syndrome PMID:24033266|PMID:25741868|PMID:28492532 10049228 CV196178 NM_000414.4(HSD17B4):c.666C>G (p.Val222=) variant DOID:0090031 D-bifunctional protein deficiency IAGP D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Bifunctional peroxisomal enzyme deficiency PMID:24033266|PMID:25741868|PMID:28492532 10049228 CV196178 NM_000414.4(HSD17B4):c.666C>G (p.Val222=) variant DOID:9003326 Perrault Syndrome 1 IAGP D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Perrault syndrome 1 PMID:24033266|PMID:25741868|PMID:28492532 10049230 CV196191 NM_000512.5(GALNS):c.953T>G (p.Met318Arg) variant DOID:0111391 mucopolysaccharidosis IVA IAGP D RGD:8554872 20211109 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A PMID:11524742|PMID:16287098|PMID:20574428|PMID:22976768|PMID:23876334|PMID:24035930|PMID:24120057|PMID:24726177|PMID:25137622|PMID:25252036|PMID:25545067|PMID:25741868|PMID:28492532|PMID:30458289|PMID:31200731|PMID:32014045|PMID:34387910|PMID:7795586 10049230 CV196191 NM_000512.5(GALNS):c.953T>G (p.Met318Arg) variant DOID:12804 mucopolysaccharidosis IV IAGP D RGD:8554872 20211109 ClinVar ClinVar Annotator: match by term: Morquio syndrome PMID:11524742|PMID:16287098|PMID:20574428|PMID:22976768|PMID:23876334|PMID:24035930|PMID:24120057|PMID:24726177|PMID:25137622|PMID:25252036|PMID:25545067|PMID:25741868|PMID:28492532|PMID:30458289|PMID:31200731|PMID:32014045|PMID:34387910|PMID:7795586 10049230 CV196191 NM_000512.5(GALNS):c.953T>G (p.Met318Arg) variant DOID:630 genetic disease IAGP D RGD:8554872 20211109 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11524742|PMID:16287098|PMID:20574428|PMID:22976768|PMID:23876334|PMID:24035930|PMID:24120057|PMID:24726177|PMID:25137622|PMID:25252036|PMID:25545067|PMID:25741868|PMID:28492532|PMID:30458289|PMID:31200731|PMID:32014045|PMID:34387910|PMID:7795586 10049231 CV196194 NM_000642.3(AGL):c.1160G>A (p.Arg387Gln) variant DOID:2748 glycogen storage disease III IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Glycogen storage disease type III PMID:25741868|PMID:28492532 10049232 CV196197 NM_000747.3(CHRNB1):c.1045-6C>G variant DOID:0110679 congenital myasthenic syndrome 4C IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4C PMID:25741868|PMID:28492532 10049232 CV196197 NM_000747.3(CHRNB1):c.1045-6C>G variant DOID:0110681 congenital myasthenic syndrome 2A IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 2a, slow-channel PMID:25741868|PMID:28492532 10049233 CV196200 NM_000784.4(CYP27A1):c.1505C>A (p.Ala502Asp) variant DOID:4810 cerebrotendinous xanthomatosis IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Cholestanol storage disease PMID:28492532 10049234 CV196202 NM_000875.5(IGF1R):c.1914C>T (p.Asn638=) variant DOID:9000145 IGF1R-RELATED DISORDER IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: IGF-I RESISTANCE PMID:20625407|PMID:25741868|PMID:28492532 10049235 CV38432 NM_000157.4(GBA1):c.1093G>A (p.Glu365Lys) variant DOID:0060892 late onset Parkinson's disease IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Parkinson disease, late-onset PMID:10079102|PMID:11903352|PMID:12595585|PMID:12791040|PMID:15146461|PMID:15967693|PMID:16293621|PMID:18160183|PMID:1864608|PMID:20301446|PMID:20947659|PMID:21831682|PMID:22227325|PMID:22451204|PMID:22623374|PMID:23225227|PMID:24022302|PMID:24033266|PMID:25741868|PMID:26000814|PMID:26117366|PMID:26296077|PMID:27153395|PMID:27312774|PMID:28492532|PMID:29980418|PMID:31010158 10049235 CV38432 NM_000157.4(GBA1):c.1093G>A (p.Glu365Lys) variant DOID:0080855 Parkinsonism IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Parkinsonian disorder PMID:10079102|PMID:11903352|PMID:12595585|PMID:12791040|PMID:15146461|PMID:15967693|PMID:16293621|PMID:18160183|PMID:1864608|PMID:20301446|PMID:20947659|PMID:21831682|PMID:22227325|PMID:22451204|PMID:22623374|PMID:23225227|PMID:24022302|PMID:24033266|PMID:25741868|PMID:26000814|PMID:26117366|PMID:26296077|PMID:27153395|PMID:27312774|PMID:28492532|PMID:29980418|PMID:31010158 10049235 CV38432 NM_000157.4(GBA1):c.1093G>A (p.Glu365Lys) variant DOID:0110960 Gaucher's disease perinatal lethal IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Gaucher disease perinatal lethal PMID:10079102|PMID:11903352|PMID:12595585|PMID:12791040|PMID:15146461|PMID:15967693|PMID:16293621|PMID:18160183|PMID:1864608|PMID:20301446|PMID:20947659|PMID:21831682|PMID:22227325|PMID:22451204|PMID:22623374|PMID:23225227|PMID:24022302|PMID:24033266|PMID:25741868|PMID:26000814|PMID:26117366|PMID:26296077|PMID:27153395|PMID:27312774|PMID:28492532|PMID:29980418|PMID:31010158 10049235 CV38432 NM_000157.4(GBA1):c.1093G>A (p.Glu365Lys) variant DOID:12217 Lewy body dementia IAGP D RGD:405850206 20250917 GWAS_CATALOG Based on the EFO term ID PMID:33589841 10049235 CV38432 NM_000157.4(GBA1):c.1093G>A (p.Glu365Lys) variant DOID:1926 Gaucher's disease IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Gaucher disease PMID:10079102|PMID:11903352|PMID:12595585|PMID:12791040|PMID:15146461|PMID:15967693|PMID:16293621|PMID:18160183|PMID:1864608|PMID:20301446|PMID:20947659|PMID:21831682|PMID:22227325|PMID:22451204|PMID:22623374|PMID:23225227|PMID:24022302|PMID:24033266|PMID:25741868|PMID:26000814|PMID:26117366|PMID:26296077|PMID:27153395|PMID:27312774|PMID:28492532|PMID:29980418|PMID:31010158 10049236 CV196208 NM_001023570.4(IQCB1):c.817G>T (p.Glu273Ter) variant DOID:12712 nephronophthisis IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:15723066|PMID:21901789|PMID:23559409|PMID:25741868|PMID:28041643|PMID:28492532 10049236 CV196208 NM_001023570.4(IQCB1):c.817G>T (p.Glu273Ter) variant DOID:9004221 Senior-Loken Syndrome 5 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 5 PMID:15723066|PMID:21901789|PMID:23559409|PMID:25741868|PMID:28041643|PMID:28492532 10049237 CV196211 NM_001044.5(SLC6A3):c.1215A>G (p.Ser405=) variant DOID:0070487 dopamine transporter deficiency syndrome IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile PMID:25741868|PMID:28492532 10049237 CV196211 NM_001044.5(SLC6A3):c.1215A>G (p.Ser405=) variant DOID:0070489 classic dopamine transporter deficiency syndrome IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Classic dopamine transporter deficiency syndrome PMID:25741868|PMID:28492532 10049238 CV196212 NM_001377.3(DYNC2H1):c.1360+2del variant DOID:0050592 asphyxiating thoracic dystrophy IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:16199547|PMID:23339108|PMID:25741868|PMID:28492532|PMID:29068549|PMID:32753734|PMID:33755199 10049238 CV196212 NM_001377.3(DYNC2H1):c.1360+2del variant DOID:0110087 asphyxiating thoracic dystrophy 3 IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: DYNC2H1-related condition PMID:16199547|PMID:23339108|PMID:25741868|PMID:28492532|PMID:29068549|PMID:32753734|PMID:33755199 10049239 CV196219 NM_001134363.3(RBM20):c.2318A>G (p.Lys773Arg) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25351510|PMID:25741868|PMID:28492532 10049239 CV196219 NM_001134363.3(RBM20):c.2318A>G (p.Lys773Arg) variant DOID:0110447 dilated cardiomyopathy 1DD IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1DD PMID:24033266|PMID:25351510|PMID:25741868|PMID:28492532 10049240 CV196221 NM_001164277.2(SLC37A4):c.1067G>C (p.Ser356Thr) variant DOID:0081330 glycogen storage disease Ib IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: GSD Ib PMID:28492532 10049240 CV196221 NM_001164277.2(SLC37A4):c.1067G>C (p.Ser356Thr) variant DOID:630 genetic disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10049243 CV196235 NM_002334.4(LRP4):c.997G>A (p.Gly333Arg) variant DOID:0090015 Cenani-Lenz syndactyly syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Syndactyly Cenani Lenz type PMID:28492532 10049244 CV196236 NM_002335.4(LRP5):c.1968C>T (p.His656=) variant DOID:0060849 osteoporosis-pseudoglioma syndrome IAGP D RGD:8554872 20240213 ClinVar ClinVar Annotator: match by term: Pseudoglioma with bone fragility PMID:25741868|PMID:28492532 10049244 CV196236 NM_002335.4(LRP5):c.1968C>T (p.His656=) variant DOID:0060977 polycystic liver disease 4 IAGP D RGD:8554872 20240213 ClinVar ClinVar Annotator: match by term: Polycystic liver disease 4 with or without kidney cysts PMID:25741868|PMID:28492532 10049244 CV196236 NM_002335.4(LRP5):c.1968C>T (p.His656=) variant DOID:0080037 Worth syndrome IAGP D RGD:8554872 20240213 ClinVar ClinVar Annotator: match by term: Osteosclerosis autosomal dominant Worth type PMID:25741868|PMID:28492532 10049244 CV196236 NM_002335.4(LRP5):c.1968C>T (p.His656=) variant DOID:0110937 autosomal dominant osteopetrosis 1 IAGP D RGD:8554872 20240213 ClinVar ClinVar Annotator: match by term: OSTEOPETROSIS, AUTOSOMAL DOMINANT, TYPE I PMID:25741868|PMID:28492532 10049244 CV196236 NM_002335.4(LRP5):c.1968C>T (p.His656=) variant DOID:0111411 exudative vitreoretinopathy 4 IAGP D RGD:8554872 20240213 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 4 PMID:25741868|PMID:28492532 10049244 CV196236 NM_002335.4(LRP5):c.1968C>T (p.His656=) variant DOID:0111412 exudative vitreoretinopathy 1 IAGP D RGD:8554872 20240213 ClinVar ClinVar Annotator: match by term: Familial exudative vitreoretinopathy, autosomal dominant PMID:25741868|PMID:28492532 10049244 CV196236 NM_002335.4(LRP5):c.1968C>T (p.His656=) variant DOID:11476 osteoporosis IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 1 PMID:25741868|PMID:28492532 10049245 CV196239 NM_002485.5(NBN):c.1124+18C>T variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:28492532 10049245 CV196239 NM_002485.5(NBN):c.1124+18C>T variant DOID:7400 Nijmegen breakage syndrome IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Microcephaly, normal intelligence and immunodeficiency PMID:25741868|PMID:28492532 10049245 CV196239 NM_002485.5(NBN):c.1124+18C>T variant DOID:9952 acute lymphoblastic leukemia IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Acute lymphoid leukemia PMID:25741868|PMID:28492532 10049246 CV196249 NM_004369.4(COL6A3):c.3879T>G (p.Asp1293Glu) variant DOID:0050663 Bethlem myopathy IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Myopathy, benign congenital, with contractures PMID:28492532 10049246 CV196249 NM_004369.4(COL6A3):c.3879T>G (p.Asp1293Glu) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:28492532 10049247 CV196253 NM_004453.4(ETFDH):c.1001T>C (p.Leu334Pro) variant DOID:0060358 multiple acyl-CoA dehydrogenase deficiency IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency PMID:12359134|PMID:17584774|PMID:22611163|PMID:25741868|PMID:28492532|PMID:36109795 10049247 CV196253 NM_004453.4(ETFDH):c.1001T>C (p.Leu334Pro) variant DOID:630 genetic disease IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12359134|PMID:17584774|PMID:22611163|PMID:25741868|PMID:28492532|PMID:36109795 10049249 CV196264 NM_005199.5(CHRNG):c.951C>A (p.Ile317=) variant DOID:0081322 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Autosomal recessive multiple pterygium syndrome PMID:25741868|PMID:28492532 10049249 CV196264 NM_005199.5(CHRNG):c.951C>A (p.Ile317=) variant DOID:9005962 Multiple Pterygium Syndrome, Lethal Type IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Lethal multiple pterygium syndrome PMID:25741868|PMID:28492532 10049251 CV196268 NM_005529.7(HSPG2):c.959-5C>T variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532 10049252 CV196272 NM_005765.3(ATP6AP2):c.1050T>C (p.Asp350=) variant DOID:0060806 syndromic X-linked intellectual disability Hedera type IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type PMID:25741868|PMID:28492532 10049254 CV196278 NM_006059.4(LAMC3):c.1630+5C>G variant DOID:9003313 Occipital Cortical Malformations IAGP D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: LAMC3-related condition PMID:25741868|PMID:28492532 10049256 CV196284 NM_001199397.3(NEK1):c.782G>A (p.Arg261His) variant DOID:0081378 amyotrophic lateral sclerosis type 24 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis, susceptibility to, 24 PMID:27455347|PMID:28089114|PMID:28492532 10049256 CV196284 NM_001199397.3(NEK1):c.782G>A (p.Arg261His) variant DOID:0110092 short-rib thoracic dysplasia 6 with or without polydactyly IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly PMID:27455347|PMID:28089114|PMID:28492532 10049256 CV196284 NM_001199397.3(NEK1):c.782G>A (p.Arg261His) variant DOID:231 motor neuron disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Motor neuron disease PMID:27455347|PMID:28089114|PMID:28492532 10049257 CV196286 NM_012448.4(STAT5B):c.1101C>A (p.Pro367=) variant DOID:0080836 growth hormone insensitivity syndrome with immune dysregulation 1 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Growth hormone insensitivity with immune dysregulation 1, autosomal recessive PMID:24033266|PMID:25741868|PMID:28492532 10049258 CV196287 NM_012448.4(STAT5B):c.993G>A (p.Thr331=) variant DOID:0080836 growth hormone insensitivity syndrome with immune dysregulation 1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Growth hormone insensitivity with immune dysregulation 1, autosomal recessive PMID:25741868|PMID:28492532 10049259 CV196291 NM_014639.4(SKIC3):c.585G>A (p.Lys195=) variant DOID:0111415 trichohepatoenteric syndrome 1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Trichohepatoenteric syndrome 1 PMID:25741868|PMID:28492532 10049260 CV196292 NM_014874.4(MFN2):c.892G>A (p.Gly298Arg) variant DOID:0050539 Charcot-Marie-Tooth disease type 2 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type PMID:16043786|PMID:19889647|PMID:21576112|PMID:25741868|PMID:28492532|PMID:39825153 10049260 CV196292 NM_014874.4(MFN2):c.892G>A (p.Gly298Arg) variant DOID:0080068 Charcot-Marie-Tooth disease type 6 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: PERIPHERAL NEUROPATHY AND OPTIC ATROPHY PMID:16043786|PMID:19889647|PMID:21576112|PMID:25741868|PMID:28492532|PMID:39825153 10049260 CV196292 NM_014874.4(MFN2):c.892G>A (p.Gly298Arg) variant DOID:0110155 Charcot-Marie-Tooth disease type 2A2A IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2A2A PMID:16043786|PMID:19889647|PMID:21576112|PMID:25741868|PMID:28492532|PMID:39825153 10049260 CV196292 NM_014874.4(MFN2):c.892G>A (p.Gly298Arg) variant DOID:0111557 Charcot-Marie-Tooth disease type 2A2B IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2A2B PMID:16043786|PMID:19889647|PMID:21576112|PMID:25741868|PMID:28492532|PMID:39825153 10049260 CV196292 NM_014874.4(MFN2):c.892G>A (p.Gly298Arg) variant DOID:10595 Charcot-Marie-Tooth disease IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:16043786|PMID:19889647|PMID:21576112|PMID:25741868|PMID:28492532|PMID:39825153 10049260 CV196292 NM_014874.4(MFN2):c.892G>A (p.Gly298Arg) variant DOID:630 genetic disease IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16043786|PMID:19889647|PMID:21576112|PMID:25741868|PMID:28492532|PMID:39825153 10049260 CV196292 NM_014874.4(MFN2):c.892G>A (p.Gly298Arg) variant DOID:9004551 Charcot-Marie-Tooth Disease Type 2A2 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2A2 PMID:16043786|PMID:19889647|PMID:21576112|PMID:25741868|PMID:28492532|PMID:39825153 10049260 CV196292 NM_014874.4(MFN2):c.892G>A (p.Gly298Arg) variant DOID:9007697 Charcot-Marie-Tooth Disease Type 6A IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, TYPE 6A PMID:16043786|PMID:19889647|PMID:21576112|PMID:25741868|PMID:28492532|PMID:39825153 10049261 CV196295 NM_015311.3(OBSL1):c.3003C>T (p.Ala1001=) variant DOID:9006598 Three M Syndrome 2 IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Three M syndrome 2 PMID:25741868|PMID:28492532 10049262 CV196299 NM_014920.5(CILK1):c.831+5del variant DOID:0111325 juvenile myoclonic epilepsy 10 IAGP D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: CILK1-related condition PMID:25741868|PMID:28492532 10049263 CV196310 NM_001378120.1(MBD5):c.1638C>T (p.Ala546=) variant DOID:0070031 autosomal dominant intellectual developmental disorder 1 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Mental retardation, autosomal dominant 1 PMID:25741868|PMID:28492532 10049263 CV196310 NM_001378120.1(MBD5):c.1638C>T (p.Ala546=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10049264 CV196315 NM_020451.3(SELENON):c.1096G>T (p.Glu366Ter) variant DOID:0110633 rigid spine muscular dystrophy 1 IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy PMID:25741868 10049265 CV196316 NM_020549.5(CHAT):c.1381G>A (p.Val461Met) variant DOID:0110671 congenital myasthenic syndrome 6 IAGP D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Familial infantile myasthenia PMID:24033266|PMID:25741868|PMID:28492532 10049266 CV196317 NM_020549.5(CHAT):c.1372C>T (p.Leu458Phe) variant DOID:0110671 congenital myasthenic syndrome 6 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Familial infantile myasthenia PMID:25741868|PMID:28492532 10049267 CV196319 NM_001374828.1(ARID1B):c.2902C>T (p.Arg968Ter) variant DOID:0060041 autism spectrum disorder IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Autism spectrum disorder PMID:25741868|PMID:30504930 10049267 CV196319 NM_001374828.1(ARID1B):c.2902C>T (p.Arg968Ter) variant DOID:0070042 Coffin-Siris syndrome 1 IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Coffin-Siris syndrome 1 PMID:25741868|PMID:30504930 10049268 CV196321 NM_021957.4(GYS2):c.1229+11G>A variant DOID:9006581 Glycogen Storage Disease 0, Liver IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Hypoglycemia with deficiency of glycogen synthetase in the liver PMID:25741868|PMID:28492532 10049269 CV196332 NM_024884.3(L2HGDH):c.1100A>G (p.Tyr367Cys) variant DOID:0050574 L-2-hydroxyglutaric aciduria IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduria PMID:20052767|PMID:25741868|PMID:26467025|PMID:28492532 10049270 CV196342 NM_006950.3(SYN1):c.1056-14_1056-8del variant DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Epilepsy, X-linked, with variable learning disabilities and behavior disorders PMID:26467025|PMID:28492532 10049272 CV196349 NM_153252.5(BRWD3):c.814-16dup variant DOID:0112045 non-syndromic X-linked intellectual disability 93 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 93 PMID:25741868|PMID:28492532 10049273 CV196350 NM_153717.3(EVC):c.1127C>T (p.Ala376Val) variant DOID:12714 Ellis-Van Creveld syndrome IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld Syndrome PMID:25741868|PMID:28492532 10049275 CV196362 NM_000540.3(RYR1):c.12499G>T (p.Glu4167Ter) variant DOID:0080102 congenital myopathy 4A IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion PMID:23919265|PMID:25741868|PMID:25960145|PMID:28492532|PMID:28818389|PMID:30155738|PMID:30611313 10049275 CV196362 NM_000540.3(RYR1):c.12499G>T (p.Glu4167Ter) variant DOID:0080990 King Denborough syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: King syndrome PMID:23919265|PMID:25741868|PMID:25960145|PMID:28492532|PMID:28818389|PMID:30155738|PMID:30611313 10049275 CV196362 NM_000540.3(RYR1):c.12499G>T (p.Glu4167Ter) variant DOID:0080991 congenital myopathy 1B IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Multiminicore disease with external ophthalmoplegia PMID:23919265|PMID:25741868|PMID:25960145|PMID:28492532|PMID:28818389|PMID:30155738|PMID:30611313 10049275 CV196362 NM_000540.3(RYR1):c.12499G>T (p.Glu4167Ter) variant DOID:3529 congenital myopathy 1A IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Central core myopathy PMID:23919265|PMID:25741868|PMID:25960145|PMID:28492532|PMID:28818389|PMID:30155738|PMID:30611313 10049275 CV196362 NM_000540.3(RYR1):c.12499G>T (p.Glu4167Ter) variant DOID:422 congenital structural myopathy IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy PMID:23919265|PMID:25741868|PMID:25960145|PMID:28492532|PMID:28818389|PMID:30155738|PMID:30611313 10049275 CV196362 NM_000540.3(RYR1):c.12499G>T (p.Glu4167Ter) variant DOID:8545 malignant hyperthermia IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Malignant hyperpyrexia PMID:23919265|PMID:25741868|PMID:25960145|PMID:28492532|PMID:28818389|PMID:30155738|PMID:30611313 10049275 CV196362 NM_000540.3(RYR1):c.12499G>T (p.Glu4167Ter) variant DOID:9005320 Malignant Fever IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Pharmacogenic myopathy PMID:23919265|PMID:25741868|PMID:25960145|PMID:28492532|PMID:28818389|PMID:30155738|PMID:30611313 10049277 CV196365 NM_182961.4(SYNE1):c.17203-7_17203-6del variant DOID:0050753 cerebellar ataxia IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia PMID:28492532 10049277 CV196365 NM_182961.4(SYNE1):c.17203-7_17203-6del variant DOID:0070246 X-linked Emery-Dreifuss muscular dystrophy 1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures PMID:28492532 10049277 CV196365 NM_182961.4(SYNE1):c.17203-7_17203-6del variant DOID:11726 Emery-Dreifuss muscular dystrophy IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:28492532 10049279 CV196383 NM_001164508.2(NEB):c.18783G>A (p.Gln6261=) variant DOID:0110928 nemaline myopathy 2 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 2 PMID:25741868|PMID:28492532 10049279 CV196383 NM_001164508.2(NEB):c.18783G>A (p.Gln6261=) variant DOID:3191 nemaline myopathy IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Nemaline myopathy PMID:25741868|PMID:28492532 10049280 CV196387 NM_182961.4(SYNE1):c.17816_17820del (p.Asp5939fs) variant DOID:0070249 autosomal dominant Emery-Dreifuss muscular dystrophy 4 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES PMID:17159980|PMID:19542096|PMID:24319099|PMID:25741868|PMID:27086870|PMID:28492532|PMID:34816117 10049280 CV196387 NM_182961.4(SYNE1):c.17816_17820del (p.Asp5939fs) variant DOID:0111618 autosomal recessive spinocerebellar ataxia 8 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: SYNE1-Related Autosomal Recessive Cerebellar Ataxia PMID:17159980|PMID:19542096|PMID:24319099|PMID:25741868|PMID:27086870|PMID:28492532|PMID:34816117 10049280 CV196387 NM_182961.4(SYNE1):c.17816_17820del (p.Asp5939fs) variant DOID:630 genetic disease IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17159980|PMID:19542096|PMID:24319099|PMID:25741868|PMID:27086870|PMID:28492532|PMID:34816117 10049281 CV196396 NM_000540.3(RYR1):c.14061G>A (p.Leu4687=) variant DOID:8545 malignant hyperthermia IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Malignant hyperpyrexia PMID:25741868|PMID:28492532 10049281 CV196396 NM_000540.3(RYR1):c.14061G>A (p.Leu4687=) variant DOID:9005320 Malignant Fever IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Pharmacogenic myopathy PMID:25741868|PMID:28492532 10049282 CV196397 NM_031935.3(HMCN1):c.15010A>T (p.Thr5004Ser) variant DOID:0110014 age related macular degeneration 1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Age related macular degeneration 1 PMID:25741868|PMID:28492532 10049283 CV196398 NM_031935.3(HMCN1):c.15011C>T (p.Thr5004Ile) variant DOID:0110014 age related macular degeneration 1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Age related macular degeneration 1 PMID:25741868|PMID:28492532 10049285 CV196400 NM_001267550.2(TTN):c.28547G>A (p.Arg9516His) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:24033266|PMID:25741868|PMID:26467025|PMID:27375234|PMID:28492532|PMID:30348779|PMID:30993396|PMID:31273342|PMID:36703207|PMID:37328711 10049285 CV196400 NM_001267550.2(TTN):c.28547G>A (p.Arg9516His) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Salih Myopathy PMID:24033266|PMID:25741868|PMID:26467025|PMID:27375234|PMID:28492532|PMID:30348779|PMID:30993396|PMID:31273342|PMID:36703207|PMID:37328711 10049285 CV196400 NM_001267550.2(TTN):c.28547G>A (p.Arg9516His) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10 PMID:24033266|PMID:25741868|PMID:26467025|PMID:27375234|PMID:28492532|PMID:30348779|PMID:30993396|PMID:31273342|PMID:36703207|PMID:37328711 10049285 CV196400 NM_001267550.2(TTN):c.28547G>A (p.Arg9516His) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:24033266|PMID:25741868|PMID:26467025|PMID:27375234|PMID:28492532|PMID:30348779|PMID:30993396|PMID:31273342|PMID:36703207|PMID:37328711 10049285 CV196400 NM_001267550.2(TTN):c.28547G>A (p.Arg9516His) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:24033266|PMID:25741868|PMID:26467025|PMID:27375234|PMID:28492532|PMID:30348779|PMID:30993396|PMID:31273342|PMID:36703207|PMID:37328711 10049285 CV196400 NM_001267550.2(TTN):c.28547G>A (p.Arg9516His) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant PMID:24033266|PMID:25741868|PMID:26467025|PMID:27375234|PMID:28492532|PMID:30348779|PMID:30993396|PMID:31273342|PMID:36703207|PMID:37328711 10049286 CV196401 NM_000540.3(RYR1):c.14130-8C>G variant DOID:0080991 congenital myopathy 1B IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Multiminicore myopathy PMID:25741868|PMID:28492532 10049286 CV196401 NM_000540.3(RYR1):c.14130-8C>G variant DOID:3529 congenital myopathy 1A IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Myopathy, Central Core PMID:25741868|PMID:28492532 10049286 CV196401 NM_000540.3(RYR1):c.14130-8C>G variant DOID:8545 malignant hyperthermia IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Malignant hyperthermia susceptibility PMID:25741868|PMID:28492532 10049286 CV196401 NM_000540.3(RYR1):c.14130-8C>G variant DOID:9005001 Congenital Neuromuscular Disease, with Uniform Type 1 Fiber IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Neuromuscular disease, congenital, with uniform type 1 fiber PMID:25741868|PMID:28492532 10049286 CV196401 NM_000540.3(RYR1):c.14130-8C>G variant DOID:9005320 Malignant Fever IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Pharmacogenic myopathy PMID:25741868|PMID:28492532 10049288 CV196406 NM_182914.3(SYNE2):c.17561T>C (p.Leu5854Pro) variant DOID:0070250 autosomal dominant Emery-Dreifuss muscular dystrophy 5 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 5, autosomal dominant PMID:25741868|PMID:26467025|PMID:28492532|PMID:29970176 10049291 CV181175 NM_000756.4(CRH):c.89C>G (p.Pro30Arg) variant DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:23086396|PMID:23593457|PMID:24395520|PMID:25741868 10049292 CV190175 NC_000017.10:g.(69472000_?)_(?_69712000)del variant DOID:0111775 46,XY sex reversal 10 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: 46,XY sex reversal 10 PMID:22051515 10049294 CV190177 NC_000017.11:g.(?_71475000)_(71611000_?)del variant DOID:0111775 46,XY sex reversal 10 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: 46,XY sex reversal 10 PMID:25604083|PMID:6620326 10049295 CV190181 NM_000921.5(PDE3A):c.1334C>A (p.Thr445Asn) variant DOID:0111247 hypertension and brachydactyly syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Brachydactyly with hypertension PMID:25961942|PMID:4774535 10049296 CV190182 NM_000921.5(PDE3A):c.1333A>G (p.Thr445Ala) variant DOID:0111247 hypertension and brachydactyly syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Brachydactyly with hypertension PMID:25961942 10049297 CV190184 NM_000921.5(PDE3A):c.1339G>A (p.Ala447Thr) variant DOID:0111247 hypertension and brachydactyly syndrome IAGP D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Bilginturan syndrome PMID:25961942|PMID:4774535 10049297 CV190184 NM_000921.5(PDE3A):c.1339G>A (p.Ala447Thr) variant DOID:630 genetic disease IAGP D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25961942|PMID:4774535 10049298 CV190185 NM_000921.5(PDE3A):c.1340C>T (p.Ala447Val) variant DOID:0111247 hypertension and brachydactyly syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Brachydactyly with hypertension PMID:25961942 10049299 CV190186 NM_000921.5(PDE3A):c.1346G>T (p.Gly449Val) variant DOID:0111247 hypertension and brachydactyly syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Bilginturan syndrome PMID:25961942|PMID:28492532 10049300 CV190187 NM_033026.6(PCLO):c.10624C>T (p.Arg3542Ter) variant DOID:0060272 pontocerebellar hypoplasia type 3 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 3 PMID:12771259|PMID:25832664 10049301 CV190188 NM_138395.4(MARS2):c.550C>T (p.Gln184Ter) variant DOID:0111468 combined oxidative phosphorylation deficiency 25 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 25 PMID:25754315 10049302 CV190189 NM_138395.4(MARS2):c.424C>T (p.Arg142Trp) variant DOID:0111468 combined oxidative phosphorylation deficiency 25 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 25 PMID:25754315|PMID:28492532 10049303 CV190196 NM_000019.4(ACAT1):c.60G>C (p.Arg20=) variant DOID:14723 beta-ketothiolase deficiency IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Deficiency of acetyl-CoA acetyltransferase PMID:28492532 10049304 CV190197 NM_000033.4(ABCD1):c.750G>C (p.Val250=) variant DOID:10588 adrenoleukodystrophy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:28492532 10049305 CV190199 NM_000033.4(ABCD1):c.707G>A (p.Arg236His) variant DOID:10588 adrenoleukodystrophy IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Adrenomyeloneuropathy PMID:12175782|PMID:25741868|PMID:28492532 10049305 CV190199 NM_000033.4(ABCD1):c.707G>A (p.Arg236His) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12175782|PMID:25741868|PMID:28492532 10049306 CV190203 NM_000070.3(CAPN3):c.264T>G (p.Phe88Leu) variant DOID:0110275 autosomal recessive limb-girdle muscular dystrophy type 2A IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2A PMID:25741868|PMID:28492532 10049307 CV190205 NM_001122630.2(CDKN1C):c.579G>A (p.Pro193=) variant DOID:5572 Beckwith-Wiedemann syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: EMG Syndrome PMID:28492532 10049308 CV190210 NM_000100.4(CSTB):c.29A>C (p.Gln10Pro) variant DOID:630 genetic disease IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532 10049308 CV190210 NM_000100.4(CSTB):c.29A>C (p.Gln10Pro) variant DOID:891 progressive myoclonus epilepsy IAGP D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:26467025|PMID:28492532 10049310 CV190212 NM_001114753.3(ENG):c.67+5G>A variant DOID:1270 hereditary hemorrhagic telangiectasia IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia PMID:16690726|PMID:17576681|PMID:25970827|PMID:28492532|PMID:9536098 10049311 CV190213 NM_000127.3(EXT1):c.113A>G (p.Glu38Gly) variant DOID:206 hereditary multiple exostoses IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Multiple congenital exostosis PMID:28492532 10049314 CV190216 NM_000147.4(FUCA1):c.-12T>C variant DOID:14500 fucosidosis IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Fucosidosis PMID:25741868 10049315 CV190221 NM_000169.3(GLA):c.124A>C (p.Met42Leu) variant DOID:14499 Fabry disease IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Fabry disease PMID:12175777|PMID:15492942|PMID:15712228|PMID:18205205|PMID:23935525|PMID:25741868|PMID:26415523|PMID:27560961|PMID:27657681|PMID:28492532|PMID:31036492|PMID:32802993|PMID:8875188 10049317 CV190223 NM_000169.3(GLA):c.194+17A>G variant DOID:14499 Fabry disease IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Fabry disease PMID:25741868|PMID:28492532 10049319 CV190227 NM_000203.5(IDUA):c.53T>C (p.Leu18Pro) variant DOID:0111390 mucopolysaccharidosis Ih IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Hurler syndrome PMID:25256405|PMID:25557439|PMID:25741868|PMID:28492532|PMID:31194252 10049319 CV190227 NM_000203.5(IDUA):c.53T>C (p.Leu18Pro) variant DOID:12802 mucopolysaccharidosis I IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 PMID:25256405|PMID:25557439|PMID:25741868|PMID:28492532|PMID:31194252 10049321 CV190232 NM_000261.2(MYOC):c.366C>T (p.Gly122=) variant DOID:1068 juvenile glaucoma IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Primary open angle glaucoma juvenile onset 1 PMID:12868033|PMID:14627955|PMID:15851979|PMID:25741868|PMID:28492532 10049323 CV190234 NM_000263.4(NAGLU):c.154G>A (p.Val52Met) variant DOID:0111394 mucopolysaccharidosis type IIIB IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-B PMID:27590925|PMID:28492532 10049325 CV190237 NM_000276.4(OCRL):c.39+10G>A variant DOID:1056 oculocerebrorenal syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency PMID:28492532 10049326 CV190238 NM_000283.4(PDE6B):c.299G>A (p.Arg100His) variant DOID:0110375 retinitis pigmentosa 40 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 40 PMID:22334370|PMID:24033266|PMID:25472526|PMID:25741868|PMID:26667666|PMID:28492532|PMID:28981474|PMID:30609409|PMID:30998820|PMID:31964843|PMID:32531858|PMID:34906470 10049326 CV190238 NM_000283.4(PDE6B):c.299G>A (p.Arg100His) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:22334370|PMID:24033266|PMID:25472526|PMID:25741868|PMID:26667666|PMID:28492532|PMID:28981474|PMID:30609409|PMID:30998820|PMID:31964843|PMID:32531858|PMID:34906470 10049326 CV190238 NM_000283.4(PDE6B):c.299G>A (p.Arg100His) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:22334370|PMID:24033266|PMID:25472526|PMID:25741868|PMID:26667666|PMID:28492532|PMID:28981474|PMID:30609409|PMID:30998820|PMID:31964843|PMID:32531858|PMID:34906470 10049327 CV190241 NM_000287.4(PEX6):c.870G>C (p.Glu290Asp) variant DOID:0050444 infantile Refsum disease IAGP D RGD:8554872 20221004 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:28492532 10049327 CV190241 NM_000287.4(PEX6):c.870G>C (p.Glu290Asp) variant DOID:0080479 peroxisome biogenesis disorder 4A IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 4a (zellweger) PMID:28492532 10049327 CV190241 NM_000287.4(PEX6):c.870G>C (p.Glu290Asp) variant DOID:630 genetic disease IAGP D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10049328 CV190242 NM_000288.4(PEX7):c.130+10C>A variant DOID:0081438 Peroxisome biogenesis disorder 9B IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 9B PMID:28492532 10049329 CV190245 NM_000303.3(PMM2):c.61C>T (p.Arg21Trp) variant DOID:0080552 congenital disorder of glycosylation Ia IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: PMM2-congenital disorder of glycosylation PMID:19862844|PMID:23430905|PMID:25741868|PMID:28122681|PMID:28492532 10049329 CV190245 NM_000303.3(PMM2):c.61C>T (p.Arg21Trp) variant DOID:630 genetic disease IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19862844|PMID:23430905|PMID:25741868|PMID:28122681|PMID:28492532 10049331 CV190248 NM_000322.5(PRPH2):c.271T>A (p.Tyr91Asn) variant DOID:0050817 Stargardt disease IAGP D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Stargardt disease PMID:25082885|PMID:25741868|PMID:26024099|PMID:28492532|PMID:32531846 10049331 CV190248 NM_000322.5(PRPH2):c.271T>A (p.Tyr91Asn) variant DOID:9006630 Stargardt Disease 1 IAGP D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Fundus flavimaculatus PMID:25082885|PMID:25741868|PMID:26024099|PMID:28492532|PMID:32531846 10049333 CV190250 NM_000327.4(ROM1):c.47G>A (p.Arg16His) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532|PMID:9331261 10049333 CV190250 NM_000327.4(ROM1):c.47G>A (p.Arg16His) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532|PMID:9331261 10049334 CV190251 NM_000327.4(ROM1):c.81G>T (p.Leu27=) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant PMID:28492532|PMID:9331261 10049336 CV190253 NM_000327.4(ROM1):c.323C>T (p.Thr108Met) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:24265693|PMID:28492532|PMID:8595413|PMID:9187681 10049338 CV190255 NM_000388.4(CASR):c.114T>C (p.Phe38=) variant DOID:0060699 familial hypocalciuric hypercalcemia IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis PMID:17698911|PMID:28492532 10049339 CV190259 NM_001278116.2(L1CAM):c.36C>A (p.Leu12=) variant DOID:2476 hereditary spastic paraplegia IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:25741868|PMID:28492532 10049339 CV190259 NM_001278116.2(L1CAM):c.36C>A (p.Leu12=) variant DOID:607 paraplegia IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:25741868|PMID:28492532 10049339 CV190259 NM_001278116.2(L1CAM):c.36C>A (p.Leu12=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10049340 CV190260 NM_000426.4(LAMA2):c.13G>A (p.Ala5Thr) variant DOID:0110636 congenital merosin-deficient muscular dystrophy 1A IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Laminin alpha 2-related dystrophy PMID:25741868|PMID:28492532 10049342 CV190263 NM_000440.3(PDE6A):c.251A>T (p.Lys84Met) variant DOID:0110379 retinitis pigmentosa 43 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 43 PMID:25741868|PMID:28492532 10049343 CV190264 NM_000440.3(PDE6A):c.304C>A (p.Arg102Ser) variant DOID:0110379 retinitis pigmentosa 43 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 43 PMID:10393062|PMID:23105016|PMID:25741868|PMID:25775262|PMID:26868535|PMID:27917291|PMID:28492532|PMID:30998820|PMID:31429209|PMID:31456290|PMID:31964843|PMID:32037395|PMID:32531858|PMID:33576794|PMID:34057927|PMID:34426522|PMID:35533076|PMID:36140798|PMID:36460718|PMID:36819107 10049343 CV190264 NM_000440.3(PDE6A):c.304C>A (p.Arg102Ser) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10393062|PMID:23105016|PMID:25741868|PMID:25775262|PMID:26868535|PMID:27917291|PMID:28492532|PMID:30998820|PMID:31429209|PMID:31456290|PMID:31964843|PMID:32037395|PMID:32531858|PMID:33576794|PMID:34057927|PMID:34426522|PMID:35533076|PMID:36140798|PMID:36460718|PMID:36819107 10049343 CV190264 NM_000440.3(PDE6A):c.304C>A (p.Arg102Ser) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10393062|PMID:23105016|PMID:25741868|PMID:25775262|PMID:26868535|PMID:27917291|PMID:28492532|PMID:30998820|PMID:31429209|PMID:31456290|PMID:31964843|PMID:32037395|PMID:32531858|PMID:33576794|PMID:34057927|PMID:34426522|PMID:35533076|PMID:36140798|PMID:36460718|PMID:36819107 10049344 CV190266 NM_000458.4(HNF1B):c.244G>A (p.Asp82Asn) variant DOID:0050524 maturity-onset diabetes of the young IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:19639018|PMID:24033266|PMID:24897035|PMID:25741868|PMID:26467025|PMID:26899772|PMID:28492532 10049344 CV190266 NM_000458.4(HNF1B):c.244G>A (p.Asp82Asn) variant DOID:0050770 polycystic liver disease IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver PMID:19639018|PMID:24033266|PMID:24897035|PMID:25741868|PMID:26467025|PMID:26899772|PMID:28492532 10049344 CV190266 NM_000458.4(HNF1B):c.244G>A (p.Asp82Asn) variant DOID:0111101 renal cysts and diabetes syndrome IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Renal cysts and diabetes syndrome PMID:19639018|PMID:24033266|PMID:24897035|PMID:25741868|PMID:26467025|PMID:26899772|PMID:28492532 10049344 CV190266 NM_000458.4(HNF1B):c.244G>A (p.Asp82Asn) variant DOID:9351 diabetes mellitus IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:19639018|PMID:24033266|PMID:24897035|PMID:25741868|PMID:26467025|PMID:26899772|PMID:28492532 10049346 CV190274 NM_000525.4(KCNJ11):c.1123A>G (p.Met375Val) variant DOID:0050524 maturity-onset diabetes of the young IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:15580558|PMID:15718250|PMID:22701567|PMID:26448950|PMID:32935446 10049347 CV190275 NM_000525.4(KCNJ11):c.678C>T (p.Pro226=) variant DOID:0060639 permanent neonatal diabetes mellitus IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus PMID:15580558|PMID:15718250|PMID:22512215|PMID:22701567|PMID:25741868|PMID:26448950|PMID:26467025|PMID:28492532|PMID:32935446 10049347 CV190275 NM_000525.4(KCNJ11):c.678C>T (p.Pro226=) variant DOID:0111110 maturity-onset diabetes of the young type 13 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 13 PMID:15580558|PMID:15718250|PMID:22512215|PMID:22701567|PMID:25741868|PMID:26448950|PMID:26467025|PMID:28492532|PMID:32935446 10049347 CV190275 NM_000525.4(KCNJ11):c.678C>T (p.Pro226=) variant DOID:630 genetic disease IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15580558|PMID:15718250|PMID:22512215|PMID:22701567|PMID:25741868|PMID:26448950|PMID:26467025|PMID:28492532|PMID:32935446 10049348 CV190276 NM_000525.4(KCNJ11):c.821A>G (p.Asp274Gly) variant DOID:0050524 maturity-onset diabetes of the young IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:15580558|PMID:15718250|PMID:22701567|PMID:26448950|PMID:32935446 10049349 CV190277 NM_000539.3(RHO):c.360C>T (p.Gly120=) variant DOID:0110862 congenital stationary night blindness autosomal dominant 1 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness, autosomal dominant 1 PMID:28492532 10049349 CV190277 NM_000539.3(RHO):c.360C>T (p.Gly120=) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant/Recessive PMID:28492532 10049350 CV190278 NM_000543.5(SMPD1):c.107_118del (p.Val36_Leu39del) variant DOID:0070111 Niemann-Pick disease type A IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type A PMID:25741868|PMID:28492532 10049350 CV190278 NM_000543.5(SMPD1):c.107_118del (p.Val36_Leu39del) variant DOID:0070112 Niemann-Pick disease type B IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type B PMID:25741868|PMID:28492532 10049351 CV190280 NM_000543.5(SMPD1):c.103C>G (p.Leu35Val) variant DOID:0070111 Niemann-Pick disease type A IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: SPHINGOMYELIN LIPIDOSIS PMID:25741868|PMID:28492532 10049351 CV190280 NM_000543.5(SMPD1):c.103C>G (p.Leu35Val) variant DOID:0070112 Niemann-Pick disease type B IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type B PMID:25741868|PMID:28492532 10049351 CV190280 NM_000543.5(SMPD1):c.103C>G (p.Leu35Val) variant DOID:14504 Niemann-Pick disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: SPHINGOMYELINASE DEFICIENCY PMID:25741868|PMID:28492532 10049351 CV190280 NM_000543.5(SMPD1):c.103C>G (p.Leu35Val) variant DOID:630 genetic disease IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10049352 CV190281 NM_000543.5(SMPD1):c.138G>T (p.Ala46=) variant DOID:0070112 Niemann-Pick disease type B IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type B PMID:28492532 10049354 CV190285 NM_000726.5(CACNB4):c.5C>T (p.Ser2Phe) variant DOID:0050993 episodic ataxia type 5 IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Episodic ataxia, type 5 PMID:25741868|PMID:26467025|PMID:28492532 10049354 CV190285 NM_000726.5(CACNB4):c.5C>T (p.Ser2Phe) variant DOID:1827 generalized epilepsy IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Generalised epilepsy PMID:25741868|PMID:26467025|PMID:28492532 10049354 CV190285 NM_000726.5(CACNB4):c.5C>T (p.Ser2Phe) variant DOID:4890 juvenile myoclonic epilepsy IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Juvenile myoclonic epilepsy PMID:25741868|PMID:26467025|PMID:28492532 10049354 CV190285 NM_000726.5(CACNB4):c.5C>T (p.Ser2Phe) variant DOID:9009314 Idiopathic Generalized Epilepsy 9 IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Epilepsy, idiopathic generalized 9 PMID:25741868|PMID:26467025|PMID:28492532 10049354 CV190285 NM_000726.5(CACNB4):c.5C>T (p.Ser2Phe) variant DOID:9009315 Idiopathic Generalized Epilepsy IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:25741868|PMID:26467025|PMID:28492532 10049356 CV190287 NM_000726.5(CACNB4):c.36G>A (p.Ala12=) variant DOID:0050993 episodic ataxia type 5 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: CACNB4-related condition PMID:28492532 10049356 CV190287 NM_000726.5(CACNB4):c.36G>A (p.Ala12=) variant DOID:1827 generalized epilepsy IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Generalised epilepsy PMID:28492532 10049356 CV190287 NM_000726.5(CACNB4):c.36G>A (p.Ala12=) variant DOID:9009315 Idiopathic Generalized Epilepsy IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 10049357 CV190288 NM_000751.3(CHRND):c.44C>T (p.Ala15Val) variant DOID:9005962 Multiple Pterygium Syndrome, Lethal Type IAGP D RGD:8554872 20180828 ClinVar ClinVar Annotator: match by term: Lethal multiple pterygium syndrome PMID:25741868|PMID:28492532 10049358 CV190289 NM_000784.4(CYP27A1):c.-6C>T variant DOID:4810 cerebrotendinous xanthomatosis IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis 10049360 CV190293 NM_001010892.3(RSPH4A):c.650A>C (p.Tyr217Ser) variant DOID:0110602 primary ciliary dyskinesia 11 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 11 PMID:25741868|PMID:28492532|PMID:34768622 10049360 CV190293 NM_001010892.3(RSPH4A):c.650A>C (p.Tyr217Ser) variant DOID:9562 primary ciliary dyskinesia IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:25741868|PMID:28492532|PMID:34768622 10049361 CV190295 NM_001025295.3(IFITM5):c.-10G>A variant DOID:0110344 osteogenesis imperfecta type 5 IAGP D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: IFITM5-related condition 10049362 CV190299 NM_001029883.3(PCARE):c.3058C>A (p.Gln1020Lys) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive PMID:28492532 10049363 CV190300 NM_001029883.3(PCARE):c.3059A>G (p.Gln1020Arg) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532 10049364 CV190301 NM_001029883.3(PCARE):c.537T>C (p.Pro179=) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532 10049367 CV190309 NM_001029883.3(PCARE):c.3177T>C (p.Pro1059=) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 10049370 CV190316 NM_012418.4(FSCN2):c.381G>A (p.Pro127=) variant DOID:0110406 retinitis pigmentosa 30 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 30 PMID:25741868|PMID:28492532 10049370 CV190316 NM_012418.4(FSCN2):c.381G>A (p.Pro127=) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532 10049373 CV190319 NM_001077418.3(TMEM231):c.79C>T (p.Leu27=) variant DOID:0110989 Joubert syndrome 20 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: TMEM231-related condition PMID:25741868|PMID:28492532 10049373 CV190319 NM_001077418.3(TMEM231):c.79C>T (p.Leu27=) variant DOID:9007120 Meckel Syndrome 11 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 11 PMID:25741868|PMID:28492532 10049374 CV190320 NM_001377.3(DYNC2H1):c.33C>T (p.Leu11=) variant DOID:0050592 asphyxiating thoracic dystrophy IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Short Rib Polydactyly Syndrome PMID:28492532 10049374 CV190320 NM_001377.3(DYNC2H1):c.33C>T (p.Leu11=) variant DOID:0110087 asphyxiating thoracic dystrophy 3 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 3 with or without polydactyly PMID:28492532 10049377 CV190323 NM_001101426.4(CRPPA):c.79A>C (p.Thr27Pro) variant DOID:0050557 congenital muscular dystrophy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related PMID:25741868|PMID:26467025|PMID:28492532|PMID:29382405 10049377 CV190323 NM_001101426.4(CRPPA):c.79A>C (p.Thr27Pro) variant DOID:0110295 autosomal recessive limb-girdle muscular dystrophy type 2U IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2U PMID:25741868|PMID:26467025|PMID:28492532|PMID:29382405 10049377 CV190323 NM_001101426.4(CRPPA):c.79A>C (p.Thr27Pro) variant DOID:0111234 congenital muscular dystrophy-dystroglycanopathy type A7 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7 PMID:25741868|PMID:26467025|PMID:28492532|PMID:29382405 10049382 CV190331 NM_001111.5(ADAR):c.15+10G>T variant DOID:0060257 dyschromatosis symmetrica hereditaria IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities PMID:25741868|PMID:28492532 10049382 CV190331 NM_001111.5(ADAR):c.15+10G>T variant DOID:9007522 Aicardi-Goutieres Syndrome 6 IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 6 PMID:25741868|PMID:28492532 10049383 CV190332 NM_001111125.3(IQSEC2):c.684C>T (p.Ser228=) variant DOID:0112038 non-syndromic X-linked intellectual disability 1 IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 18 PMID:28492532|PMID:37091313 10049383 CV190332 NM_001111125.3(IQSEC2):c.684C>T (p.Ser228=) variant DOID:9004603 Atkin Syndrome IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Atkin Flaitz Patil Smith syndrome PMID:28492532|PMID:37091313 10049384 CV190333 NM_001111125.3(IQSEC2):c.222G>C (p.Arg74=) variant DOID:0112038 non-syndromic X-linked intellectual disability 1 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Mental retardation, X-linked 1 PMID:28492532 10049384 CV190333 NM_001111125.3(IQSEC2):c.222G>C (p.Arg74=) variant DOID:9004603 Atkin Syndrome IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atkin Flaitz Patil Smith syndrome PMID:28492532 10049385 CV190334 NM_001127222.2(CACNA1A):c.159G>T (p.Ala53=) variant DOID:0050990 episodic ataxia type 2 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 10049386 CV190337 NM_001367624.2(ZNF469):c.2717C>T (p.Pro906Leu) variant DOID:13359 Ehlers-Danlos syndrome IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:25741868|PMID:28492532 10049386 CV190337 NM_001367624.2(ZNF469):c.2717C>T (p.Pro906Leu) variant DOID:14775 brittle cornea syndrome 1 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Brittle cornea syndrome 1 PMID:25741868|PMID:28492532 10049387 CV190339 NM_001367624.2(ZNF469):c.457C>G (p.Pro153Ala) variant DOID:13359 Ehlers-Danlos syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:25741868|PMID:28492532 10049387 CV190339 NM_001367624.2(ZNF469):c.457C>G (p.Pro153Ala) variant DOID:14775 brittle cornea syndrome 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility PMID:25741868|PMID:28492532 10049389 CV190341 NM_001367624.2(ZNF469):c.1088C>T (p.Ser363Leu) variant DOID:13359 Ehlers-Danlos syndrome IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:25741868|PMID:28492532 10049389 CV190341 NM_001367624.2(ZNF469):c.1088C>T (p.Ser363Leu) variant DOID:14775 brittle cornea syndrome 1 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: ZNF469-related condition PMID:25741868|PMID:28492532 10049390 CV190347 NM_001128228.3(TPRN):c.1574G>A (p.Arg525Gln) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10049391 CV190348 NM_001134363.3(RBM20):c.32C>T (p.Ala11Val) variant DOID:0110447 dilated cardiomyopathy 1DD IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1DD PMID:28492532 10049393 CV190351 NM_001170629.2(CHD8):c.456A>G (p.Pro152=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10049394 CV190353 NM_001173990.3(TMEM216):c.-2G>T variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:25741868|PMID:28492532 10049394 CV190353 NM_001173990.3(TMEM216):c.-2G>T variant DOID:0070116 Meckel syndrome 2 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 2 PMID:25741868|PMID:28492532 10049394 CV190353 NM_001173990.3(TMEM216):c.-2G>T variant DOID:0110988 Joubert Syndrome 2 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Joubert syndrome 2 PMID:25741868|PMID:28492532 10049395 CV190354 NM_001173990.3(TMEM216):c.5T>C (p.Leu2Pro) variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 10049395 CV190354 NM_001173990.3(TMEM216):c.5T>C (p.Leu2Pro) variant DOID:0070116 Meckel syndrome 2 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 2 PMID:28492532 10049395 CV190354 NM_001173990.3(TMEM216):c.5T>C (p.Leu2Pro) variant DOID:0110980 Joubert syndrome 1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 10049395 CV190354 NM_001173990.3(TMEM216):c.5T>C (p.Leu2Pro) variant DOID:0110988 Joubert Syndrome 2 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Cerebellooculorenal syndrome 2 PMID:28492532 10049396 CV190355 NM_001184880.2(PCDH19):c.1401G>T (p.Thr467=) variant DOID:0060848 developmental and epileptic encephalopathy 9 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:28492532 10049398 CV190359 NM_001184880.2(PCDH19):c.301A>G (p.Ile101Val) variant DOID:0060848 developmental and epileptic encephalopathy 9 IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 9 PMID:28492532 10049399 CV190360 NM_001184880.2(PCDH19):c.479G>A (p.Ser160Asn) variant DOID:0060848 developmental and epileptic encephalopathy 9 IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 9 PMID:28492532 10049399 CV190360 NM_001184880.2(PCDH19):c.479G>A (p.Ser160Asn) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10049400 CV190361 NM_001184880.2(PCDH19):c.769G>C (p.Val257Leu) variant DOID:0060848 developmental and epileptic encephalopathy 9 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: JUBERG-HELLMAN SYNDROME PMID:25741868|PMID:26467025|PMID:28492532 10049400 CV190361 NM_001184880.2(PCDH19):c.769G>C (p.Val257Leu) variant DOID:630 genetic disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 10049401 CV190362 NM_001184880.2(PCDH19):c.559T>G (p.Phe187Val) variant DOID:0060848 developmental and epileptic encephalopathy 9 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 9 PMID:28492532 10049401 CV190362 NM_001184880.2(PCDH19):c.559T>G (p.Phe187Val) variant DOID:630 genetic disease IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10049402 CV190363 NM_001189.4(NKX3-2):c.179C>T (p.Ala60Val) variant DOID:65 connective tissue disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 10049403 CV190364 NM_001189.4(NKX3-2):c.-10C>A variant DOID:65 connective tissue disease IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868 10049405 CV190370 NM_001453.3(FOXC1):c.171G>C (p.Pro57=) variant DOID:0110122 Axenfeld-Rieger syndrome type 3 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 PMID:28492532 10049406 CV190371 NM_001453.3(FOXC1):c.279C>T (p.Asn93=) variant DOID:0110122 Axenfeld-Rieger syndrome type 3 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 PMID:28492532 10049407 CV190373 NM_001453.3(FOXC1):c.78C>T (p.Tyr26=) variant DOID:0080608 anterior segment dysgenesis 3 IAGP D RGD:8554872 20250821 ClinVar ClinVar Annotator: match by term: FOXC1-related disorder PMID:28492532 10049407 CV190373 NM_001453.3(FOXC1):c.78C>T (p.Tyr26=) variant DOID:0110122 Axenfeld-Rieger syndrome type 3 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: AXENFELD-RIEGER ANOMALY WITH CARDIAC DEFECTS AND/OR SENSORINEURAL HEARING LOSS PMID:28492532 10049409 CV190381 NM_001845.6(COL4A1):c.19G>C (p.Val7Leu) variant DOID:0060263 porencephaly IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: PORENCEPHALY, TYPE 1, AUTOSOMAL DOMINANT PMID:25741868|PMID:26467025|PMID:28492532 10049409 CV190381 NM_001845.6(COL4A1):c.19G>C (p.Val7Leu) variant DOID:0090125 brain small vessel disease 1 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Brain small vessel disease with hemorrhage PMID:25741868|PMID:26467025|PMID:28492532 10049409 CV190381 NM_001845.6(COL4A1):c.19G>C (p.Val7Leu) variant DOID:9003529 Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps PMID:25741868|PMID:26467025|PMID:28492532 10049410 CV190384 NM_001927.4(DES):c.216C>A (p.Ser72Arg) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:25741868|PMID:26467025|PMID:28492532|PMID:30615648|PMID:30764827|PMID:30847666|PMID:31953240 10049410 CV190384 NM_001927.4(DES):c.216C>A (p.Ser72Arg) variant DOID:0080092 myofibrillar myopathy 1 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:25741868|PMID:26467025|PMID:28492532|PMID:30615648|PMID:30764827|PMID:30847666|PMID:31953240 10049410 CV190384 NM_001927.4(DES):c.216C>A (p.Ser72Arg) variant DOID:0110431 dilated cardiomyopathy 1I IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1I PMID:25741868|PMID:26467025|PMID:28492532|PMID:30615648|PMID:30764827|PMID:30847666|PMID:31953240 10049410 CV190384 NM_001927.4(DES):c.216C>A (p.Ser72Arg) variant DOID:0111551 neurogenic scapuloperoneal syndrome Kaeser type IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Neurogenic scapuloperoneal syndrome, Kaeser type PMID:25741868|PMID:26467025|PMID:28492532|PMID:30615648|PMID:30764827|PMID:30847666|PMID:31953240 10049411 CV190385 NM_001999.4(FBN2):c.110C>A (p.Pro37Gln) variant DOID:0111595 congenital contractural arachnodactyly IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Congenital contractural arachnodactyly PMID:28492532 10049411 CV190385 NM_001999.4(FBN2):c.110C>A (p.Pro37Gln) variant DOID:0111603 distal arthrogryposis type 7 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Beals-Hecht syndrome PMID:28492532 10049411 CV190385 NM_001999.4(FBN2):c.110C>A (p.Pro37Gln) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:28492532 10049412 CV190386 NM_002076.4(GNS):c.4C>T (p.Arg2Trp) variant DOID:0111402 mucopolysaccharidosis type IIID IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-D PMID:25741868|PMID:28492532 10049412 CV190386 NM_002076.4(GNS):c.4C>T (p.Arg2Trp) variant DOID:12801 mucopolysaccharidosis III IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Sanfilippo syndrome PMID:25741868|PMID:28492532 10049413 CV190387 NM_002206.3(ITGA7):c.128G>T (p.Arg43Leu) variant DOID:0110639 congenital muscular dystrophy due to integrin alpha-7 deficiency IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, congenital, due to integrin alpha-7 deficiency PMID:28492532 10049414 CV190389 NM_001161352.2(KCNMA1):c.62G>A (p.Ser21Asn) variant DOID:0070442 paroxysmal nonkinesigenic dyskinesia 3 IAGP D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Generalized epilepsy and paroxysmal dyskinesia PMID:28492532 10049414 CV190389 NM_001161352.2(KCNMA1):c.62G>A (p.Ser21Asn) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10049416 CV190391 NM_001161352.2(KCNMA1):c.138_161del (p.Ser53_Ser60del) variant DOID:0070442 paroxysmal nonkinesigenic dyskinesia 3 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy PMID:28492532 10049417 CV190392 NM_001161352.2(KCNMA1):c.192C>G (p.Pro64=) variant DOID:0070442 paroxysmal nonkinesigenic dyskinesia 3 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy PMID:28492532 10049418 CV190395 NM_001161352.2(KCNMA1):c.162_173del (p.Ser57_Ser60del) variant DOID:0070442 paroxysmal nonkinesigenic dyskinesia 3 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy PMID:28492532 10049418 CV190395 NM_001161352.2(KCNMA1):c.162_173del (p.Ser57_Ser60del) variant DOID:9003251 CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Cerebellar atrophy, developmental delay, and seizures PMID:28492532 10049421 CV190400 NM_002618.4(PEX13):c.-6G>C variant DOID:0080485 peroxisome biogenesis disorder 11A IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11A (Zellweger) PMID:25741868 10049422 CV190403 NM_002900.3(RBP3):c.2650G>A (p.Val884Met) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:19074801|PMID:24963161|PMID:25741868|PMID:27829784|PMID:28492532 10049422 CV190403 NM_002900.3(RBP3):c.2650G>A (p.Val884Met) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:19074801|PMID:24963161|PMID:25741868|PMID:27829784|PMID:28492532 10049423 CV190404 NM_002900.3(RBP3):c.837G>A (p.Thr279=) variant DOID:0110393 retinitis pigmentosa 66 IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 66 PMID:25741868|PMID:28492532 10049423 CV190404 NM_002900.3(RBP3):c.837G>A (p.Thr279=) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532 10049423 CV190404 NM_002900.3(RBP3):c.837G>A (p.Thr279=) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532 10049425 CV190406 NM_002900.3(RBP3):c.1514A>T (p.His505Leu) variant DOID:0110393 retinitis pigmentosa 66 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 66 PMID:19074801|PMID:25741868|PMID:28492532 10049425 CV190406 NM_002900.3(RBP3):c.1514A>T (p.His505Leu) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:19074801|PMID:25741868|PMID:28492532 10049426 CV190407 NM_002900.3(RBP3):c.1093G>A (p.Glu365Lys) variant DOID:630 genetic disease IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10049426 CV190407 NM_002900.3(RBP3):c.1093G>A (p.Glu365Lys) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532 10049427 CV190408 NM_002900.3(RBP3):c.2168C>T (p.Pro723Leu) variant DOID:0110393 retinitis pigmentosa 66 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 66 PMID:19074801|PMID:28492532 10049427 CV190408 NM_002900.3(RBP3):c.2168C>T (p.Pro723Leu) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:19074801|PMID:28492532 10049428 CV190409 NM_002900.3(RBP3):c.973G>A (p.Ala325Thr) variant DOID:0110393 retinitis pigmentosa 66 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 66 PMID:19074801|PMID:25741868|PMID:28492532 10049428 CV190409 NM_002900.3(RBP3):c.973G>A (p.Ala325Thr) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:19074801|PMID:25741868|PMID:28492532 10049430 CV190412 NM_003036.4(SKI):c.798C>T (p.Ala266=) variant DOID:0060481 Goldberg-Shprintzen syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:25741868|PMID:28492532 10049430 CV190412 NM_003036.4(SKI):c.798C>T (p.Ala266=) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10049430 CV190412 NM_003036.4(SKI):c.798C>T (p.Ala266=) variant DOID:9007185 Shprintzen-Goldberg Craniosynostosis IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:25741868|PMID:28492532 10049431 CV190413 NM_003036.4(SKI):c.216C>T (p.Pro72=) variant DOID:0060481 Goldberg-Shprintzen syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:25741868|PMID:28492532 10049431 CV190413 NM_003036.4(SKI):c.216C>T (p.Pro72=) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10049431 CV190413 NM_003036.4(SKI):c.216C>T (p.Pro72=) variant DOID:9007185 Shprintzen-Goldberg Craniosynostosis IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:25741868|PMID:28492532 10049432 CV190415 NM_003106.4(SOX2):c.453G>A (p.Ala151=) variant DOID:0111801 syndromic microphthalmia 3 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome PMID:25741868|PMID:28492532 10049433 CV190416 NM_003106.4(SOX2):c.54G>C (p.Ser18=) variant DOID:0111801 syndromic microphthalmia 3 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Anophthalmia/microphthalmia-esophageal atresia syndrome PMID:28492532 10049435 CV190419 NM_003701.4(TNFSF11):c.214G>A (p.Ala72Thr) variant DOID:0110943 autosomal recessive osteopetrosis 2 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Osteopetrosis osteoclast-poor PMID:28492532 10049436 CV190423 NM_003839.4(TNFRSF11A):c.-9T>C variant DOID:13533 osteopetrosis IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Osteopetrosis PMID:24033266|PMID:25741868 10049436 CV190423 NM_003839.4(TNFRSF11A):c.-9T>C variant DOID:5408 Paget's disease of bone IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Bone Paget disease PMID:24033266|PMID:25741868 10049437 CV190425 NM_003896.4(ST3GAL5):c.37C>T (p.Pro13Ser) variant DOID:0060470 salt and pepper syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: GM3 synthase deficiency PMID:25741868|PMID:26467025|PMID:28492532 10049439 CV190428 NM_004006.3(DMD):c.29G>C (p.Cys10Ser) variant DOID:11723 Duchenne muscular dystrophy IAGP D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:28492532 10049439 CV190428 NM_004006.3(DMD):c.29G>C (p.Cys10Ser) variant DOID:9883 Becker muscular dystrophy IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Becker muscular dystrophy PMID:28492532 10049446 CV190439 NM_004287.5(GOSR2):c.-12G>C variant DOID:0111449 progressive myoclonus epilepsy 6 IAGP D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 6 PMID:25741868 10049446 CV190439 NM_004287.5(GOSR2):c.-12G>C variant DOID:891 progressive myoclonus epilepsy IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:25741868 10049447 CV190440 NM_004287.5(GOSR2):c.29+3G>A variant DOID:891 progressive myoclonus epilepsy IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:17576681|PMID:28492532|PMID:9536098 10049449 CV190445 NM_004333.6(BRAF):c.138+17C>G variant DOID:0080690 RASopathy IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 10049450 CV190446 NM_004463.3(FGD1):c.27C>T (p.Gly9=) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10049451 CV190447 NM_004465.2(FGF10):c.97G>A (p.Val33Ile) variant DOID:0111549 aplasia of lacrimal and salivary glands IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Salivary glands, absence of PMID:28492532 10049454 CV190450 NM_004541.4(NDUFA1):c.-4A>G variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025 10049455 CV190451 NM_004560.4(ROR2):c.7C>T (p.Arg3Trp) variant DOID:0060764 autosomal recessive Robinow syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal recessive Robinow syndrome PMID:25741868|PMID:28492532 10049455 CV190451 NM_004560.4(ROR2):c.7C>T (p.Arg3Trp) variant DOID:0110969 brachydactyly type B1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Brachydactyly type B1 PMID:25741868|PMID:28492532 10049458 CV190456 NM_004715.5(CTDP1):c.181T>G (p.Ser61Ala) variant DOID:9005826 Congenital Cataracts, Facial Dysmorphism, and Neuropathy IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital Cataracts, Facial Dysmorphism, and Neuropathy PMID:25741868|PMID:28492532 10049461 CV190460 NM_004836.7(EIF2AK3):c.154G>A (p.Ala52Thr) variant DOID:0090060 Wolcott-Rallison syndrome IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Wolcott-Rallison dysplasia PMID:25741868|PMID:28492532 10049461 CV190460 NM_004836.7(EIF2AK3):c.154G>A (p.Ala52Thr) variant DOID:65 connective tissue disease IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 10049461 CV190460 NM_004836.7(EIF2AK3):c.154G>A (p.Ala52Thr) variant DOID:9351 diabetes mellitus IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:25741868|PMID:28492532 10049462 CV190461 NM_004977.3(KCNC3):c.188A>G (p.Asp63Gly) variant DOID:0050963 spinocerebellar ataxia 13 IAGP D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 13 PMID:25741868|PMID:26467025|PMID:28492532 10049464 CV190463 NM_005045.4(RELN):c.77C>T (p.Ala26Val) variant DOID:0060751 familial temporal lobe epilepsy 7 IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Familial temporal lobe epilepsy 7 PMID:25741868|PMID:26467025|PMID:28492532 10049464 CV190463 NM_005045.4(RELN):c.77C>T (p.Ala26Val) variant DOID:0060902 Norman-Roberts syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Norman-Roberts syndrome PMID:25741868|PMID:26467025|PMID:28492532 10049466 CV190470 NM_005249.5(FOXG1):c.218A>C (p.Gln73Pro) variant DOID:0070657 congenital variant of Rett syndrome IAGP D RGD:8554872 20180807 ClinVar ClinVar Annotator: match by term: Rett syndrome, congenital variant PMID:25741868|PMID:26467025|PMID:28492532 10049466 CV190470 NM_005249.5(FOXG1):c.218A>C (p.Gln73Pro) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 10049468 CV190472 NM_005249.5(FOXG1):c.209_232del (p.Gln70_Pro77del) variant DOID:0070657 congenital variant of Rett syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Rett syndrome, congenital variant PMID:28492532 10049468 CV190472 NM_005249.5(FOXG1):c.209_232del (p.Gln70_Pro77del) variant DOID:630 genetic disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10049469 CV190474 NM_001374353.1(GLI2):c.132G>A (p.Ala44=) variant DOID:0110873 holoprosencephaly 9 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 9 PMID:28492532 10049470 CV190475 NM_005413.4(SIX3):c.525G>A (p.Gln175=) variant DOID:0110872 holoprosencephaly 2 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 2 PMID:17584896|PMID:25741868|PMID:26467025|PMID:28492532 10049475 CV190481 NM_005609.4(PYGM):c.182G>A (p.Arg61His) variant DOID:2746 glycogen storage disease V IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:28492532 10049479 CV190490 NM_005670.4(EPM2A):c.235G>C (p.Gly79Arg) variant DOID:0070660 Lafora disease 1 IAGP D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: EPM2A-related condition PMID:25741868|PMID:28492532 10049479 CV190490 NM_005670.4(EPM2A):c.235G>C (p.Gly79Arg) variant DOID:3534 Lafora disease IAGP D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Lafora disease PMID:25741868|PMID:28492532 10049479 CV190490 NM_005670.4(EPM2A):c.235G>C (p.Gly79Arg) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10049479 CV190490 NM_005670.4(EPM2A):c.235G>C (p.Gly79Arg) variant DOID:891 progressive myoclonus epilepsy IAGP D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:25741868|PMID:28492532 10049479 CV190490 NM_005670.4(EPM2A):c.235G>C (p.Gly79Arg) variant DOID:9005154 Myoclonic Epilepsies IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Myoclonus epilepsy PMID:25741868|PMID:28492532 10049481 CV190492 NM_006017.3(PROM1):c.134A>G (p.Asp45Gly) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10049482 CV190493 NM_006017.3(PROM1):c.103G>C (p.Glu35Gln) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10049484 CV190496 NM_006204.4(PDE6C):c.205G>A (p.Val69Met) variant DOID:9008571 Cone Dystrophy 4 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: PDE6C-related condition PMID:28492532 10049486 CV190499 NM_006261.5(PROP1):c.96G>A (p.Pro32=) variant DOID:0061020 combined pituitary hormone deficiency 2 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Pituitary hormone deficiency, combined 2 PMID:28492532 10049487 CV190500 NM_006302.3(MOGS):c.249C>G (p.Ala83=) variant DOID:0070254 congenital disorder of glycosylation type IIb IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B PMID:28492532 10049488 CV190501 NM_006306.4(SMC1A):c.-1C>T variant DOID:0080506 Cornelia de Lange syndrome 2 IAGP D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome PMID:25741868 10049490 CV190505 NC_000013.11:g.76991973G>T variant DOID:14503 neuronal ceroid lipofuscinosis IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 10049491 CV190506 NM_006493.4(CLN5):c.-87C>T variant DOID:0110728 neuronal ceroid lipofuscinosis 5 IAGP D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Ceroid lipofuscinosis neuronal 5 PMID:21990111|PMID:22727047|PMID:25741868|PMID:26467025|PMID:28492532 10049491 CV190506 NM_006493.4(CLN5):c.-87C>T variant DOID:14503 neuronal ceroid lipofuscinosis IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:21990111|PMID:22727047|PMID:25741868|PMID:26467025|PMID:28492532 10049491 CV190506 NM_006493.4(CLN5):c.-87C>T variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21990111|PMID:22727047|PMID:25741868|PMID:26467025|PMID:28492532 10049492 CV190507 NM_006493.2(CLN5):c.77C>A (p.Ala26Glu) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10049498 CV190522 NM_012193.4(FZD4):c.97C>T (p.Pro33Ser) variant DOID:0111412 exudative vitreoretinopathy 1 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 PMID:21179236|PMID:24033266|PMID:25741868|PMID:28492532 10049499 CV190523 NM_012232.6(CAVIN1):c.168C>A (p.Ser56Arg) variant DOID:0111138 congenital generalized lipodystrophy type 4 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Congenital generalized lipodystrophy type 4 PMID:28492532 10049501 CV190525 NM_012232.6(CAVIN1):c.356T>A (p.Val119Asp) variant DOID:0111138 congenital generalized lipodystrophy type 4 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Congenital generalized lipodystrophy type 4 PMID:28492532 10049504 CV190531 NM_013382.7(POMT2):c.87A>T (p.Ala29=) variant DOID:0111240 congenital muscular dystrophy-dystroglycanopathy type A2 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 PMID:28492532 10049505 CV190533 NM_014028.4(OSTM1):c.134A>G (p.Asp45Gly) variant DOID:0110939 autosomal recessive osteopetrosis 5 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Osteopetrosis infantile malignant 3 PMID:28492532 10049507 CV190535 NM_014251.3(SLC25A13):c.2T>C (p.Met1Thr) variant DOID:0070340 classic citrullinemia IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Citrullinemia 1 PMID:23022256|PMID:23053473|PMID:23067347|PMID:25216257|PMID:25741868|PMID:27405544|PMID:28492532|PMID:30887117|PMID:31180159|PMID:34704407|PMID:34800434|PMID:35798653|PMID:36599957 10049507 CV190535 NM_014251.3(SLC25A13):c.2T>C (p.Met1Thr) variant DOID:0070341 neonatal-onset type II citrullinemia IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Neonatal-onset citrullinemia type 2 PMID:23022256|PMID:23053473|PMID:23067347|PMID:25216257|PMID:25741868|PMID:27405544|PMID:28492532|PMID:30887117|PMID:31180159|PMID:34704407|PMID:34800434|PMID:35798653|PMID:36599957 10049507 CV190535 NM_014251.3(SLC25A13):c.2T>C (p.Met1Thr) variant DOID:0070342 adult-onset type II citrullinemia IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Adult-onset citrullinemia type 2 PMID:23022256|PMID:23053473|PMID:23067347|PMID:25216257|PMID:25741868|PMID:27405544|PMID:28492532|PMID:30887117|PMID:31180159|PMID:34704407|PMID:34800434|PMID:35798653|PMID:36599957 10049507 CV190535 NM_014251.3(SLC25A13):c.2T>C (p.Met1Thr) variant DOID:9009138 Citrullinemia Type 2 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Citrullinemia type 2 PMID:23022256|PMID:23053473|PMID:23067347|PMID:25216257|PMID:25741868|PMID:27405544|PMID:28492532|PMID:30887117|PMID:31180159|PMID:34704407|PMID:34800434|PMID:35798653|PMID:36599957 10049509 CV190540 NM_014918.5(CHSY1):c.39G>A (p.Leu13=) variant DOID:0050814 temtamy preaxial brachydactyly syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Temtamy preaxial brachydactyly syndrome PMID:28492532 10049513 CV190544 NM_015192.4(PLCB1):c.73G>C (p.Gly25Arg) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10049515 CV190546 NM_015311.3(OBSL1):c.921T>C (p.Leu307=) variant DOID:9006598 Three M Syndrome 2 IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Three M syndrome 2 PMID:25741868|PMID:28492532 10049516 CV190547 NM_015311.3(OBSL1):c.600G>A (p.Arg200=) variant DOID:9006598 Three M Syndrome 2 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Three M syndrome 2 PMID:28492532 10049517 CV190548 NM_015311.3(OBSL1):c.569C>G (p.Ala190Gly) variant DOID:9006598 Three M Syndrome 2 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Three M syndrome 2 PMID:28492532 10049518 CV190549 NM_015311.3(OBSL1):c.75T>G (p.Ser25Arg) variant DOID:9006598 Three M Syndrome 2 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: 3M syndrome 2 PMID:25741868|PMID:28492532 10049519 CV190551 NM_015910.7(WDPCP):c.13T>C (p.Phe5Leu) variant DOID:0110137 Bardet-Biedl syndrome 15 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 15 PMID:25741868|PMID:28492532|PMID:33046855 10049519 CV190551 NM_015910.7(WDPCP):c.13T>C (p.Phe5Leu) variant DOID:0111591 congenital heart defects, hamartomas of tongue, and polysyndactyly IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Congenital heart defects, hamartomas of tongue, and polysyndactyly PMID:25741868|PMID:28492532|PMID:33046855 10049519 CV190551 NM_015910.7(WDPCP):c.13T>C (p.Phe5Leu) variant DOID:1935 Bardet-Biedl syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:25741868|PMID:28492532|PMID:33046855 10049519 CV190551 NM_015910.7(WDPCP):c.13T>C (p.Phe5Leu) variant DOID:630 genetic disease IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:33046855 10049520 CV190552 NM_015910.7(WDPCP):c.68C>A (p.Pro23Gln) variant DOID:0110137 Bardet-Biedl syndrome 15 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 15 PMID:25741868|PMID:28492532 10049520 CV190552 NM_015910.7(WDPCP):c.68C>A (p.Pro23Gln) variant DOID:1935 Bardet-Biedl syndrome IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:25741868|PMID:28492532 10049521 CV190553 NM_017882.3(CLN6):c.53C>T (p.Ala18Val) variant DOID:0110729 neuronal ceroid lipofuscinosis 6A IAGP D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 6 PMID:25741868|PMID:26467025|PMID:28492532|PMID:30019023 10049521 CV190553 NM_017882.3(CLN6):c.53C>T (p.Ala18Val) variant DOID:14503 neuronal ceroid lipofuscinosis IAGP D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:25741868|PMID:26467025|PMID:28492532|PMID:30019023 10049521 CV190553 NM_017882.3(CLN6):c.53C>T (p.Ala18Val) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532|PMID:30019023 10049522 CV190554 NM_017882.3(CLN6):c.64G>T (p.Ala22Ser) variant DOID:14503 neuronal ceroid lipofuscinosis IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:25741868|PMID:28492532 10049522 CV190554 NM_017882.3(CLN6):c.64G>T (p.Ala22Ser) variant DOID:630 genetic disease IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10049525 CV190559 NM_018475.5(TMEM165):c.18A>G (p.Pro6=) variant DOID:0070263 congenital disorder of glycosylation type IIk IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2k PMID:25741868|PMID:28492532 10049525 CV190559 NM_018475.5(TMEM165):c.18A>G (p.Pro6=) variant DOID:5212 congenital disorder of glycosylation IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:25741868|PMID:28492532 10049526 CV190560 NM_018668.5(VPS33B):c.-8C>T variant DOID:0111353 arthrogryposis, renal dysfunction, and cholestasis 1 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1 PMID:25741868 10049527 CV190561 NM_018714.3(COG1):c.34C>T (p.Arg12Trp) variant DOID:0070259 congenital disorder of glycosylation type IIg IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2G PMID:28492532 10049529 CV190565 NM_019066.5(MAGEL2):c.1286C>T (p.Pro429Leu) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10049530 CV190566 NM_019066.5(MAGEL2):c.1423G>T (p.Ala475Ser) variant DOID:0111715 Schaaf-Yang syndrome IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Schaaf-Yang syndrome PMID:25741868|PMID:28492532 10049530 CV190566 NM_019066.5(MAGEL2):c.1423G>T (p.Ala475Ser) variant DOID:630 genetic disease IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10049533 CV190570 NM_019066.5(MAGEL2):c.1175C>T (p.Thr392Met) variant DOID:0111715 Schaaf-Yang syndrome IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Schaaf-Yang syndrome PMID:28492532 10049533 CV190570 NM_019066.5(MAGEL2):c.1175C>T (p.Thr392Met) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10049534 CV190571 NM_019066.5(MAGEL2):c.448T>C (p.Ser150Pro) variant DOID:0111715 Schaaf-Yang syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: MAGEL2-related condition PMID:28492532 10049534 CV190571 NM_019066.5(MAGEL2):c.448T>C (p.Ser150Pro) variant DOID:630 genetic disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10049539 CV190577 NM_019066.5(MAGEL2):c.2738C>T (p.Pro913Leu) variant DOID:0111715 Schaaf-Yang syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: MAGEL2-related condition PMID:28492532 10049541 CV190579 NM_019066.5(MAGEL2):c.2660G>A (p.Arg887Gln) variant DOID:0111715 Schaaf-Yang syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Schaaf-Yang syndrome PMID:25741868|PMID:28492532 10049544 CV190582 NC_000016.10:g.5071998A>G variant DOID:0080563 congenital disorder of glycosylation Ik IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1K PMID:23806237|PMID:25741868|PMID:26931382|PMID:28492532|PMID:32573669 10049544 CV190582 NC_000016.10:g.5071998A>G variant DOID:5212 congenital disorder of glycosylation IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:23806237|PMID:25741868|PMID:26931382|PMID:28492532|PMID:32573669 10049545 CV190584 NM_019109.5(ALG1):c.208+13G>A variant DOID:0080563 congenital disorder of glycosylation Ik IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1K PMID:28492532 10049546 CV190586 NM_019109.5(ALG1):c.19G>A (p.Val7Ile) variant DOID:0080563 congenital disorder of glycosylation Ik IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1K PMID:28492532 10049547 CV190588 NM_020184.4(CNNM4):c.-14A>C variant DOID:0111404 Jalili syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Jalili syndrome 10049549 CV190591 NM_020361.5(CPA6):c.54del (p.Trp19fs) variant DOID:0111308 familial febrile seizures 11 IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Febrile seizures, familial, 11 PMID:28492532 10049552 CV190595 NM_020451.3(SELENON):c.183+14C>G variant DOID:0110633 rigid spine muscular dystrophy 1 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy PMID:28492532 10049553 CV190597 NM_020549.5(CHAT):c.-10T>G variant DOID:0110671 congenital myasthenic syndrome 6 IAGP D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Familial infantile myasthenia PMID:24033266|PMID:25741868 10049555 CV190599 NM_020751.3(COG6):c.-17dup variant DOID:5212 congenital disorder of glycosylation IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Carbohydrate-deficient glycoprotein syndrome 10049556 CV190600 NM_020751.3(COG6):c.28G>A (p.Ala10Thr) variant DOID:0070264 congenital disorder of glycosylation type IIl IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2L PMID:24033266|PMID:25741868|PMID:28492532 10049556 CV190600 NM_020751.3(COG6):c.28G>A (p.Ala10Thr) variant DOID:9001463 Shaheen Syndrome IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Shaheen syndrome PMID:24033266|PMID:25741868|PMID:28492532 10049557 CV190601 NM_020751.3(COG6):c.94T>A (p.Cys32Ser) variant DOID:0070264 congenital disorder of glycosylation type IIl IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2L PMID:24033266|PMID:25741868|PMID:28492532 10049557 CV190601 NM_020751.3(COG6):c.94T>A (p.Cys32Ser) variant DOID:9001463 Shaheen Syndrome IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Shaheen syndrome PMID:24033266|PMID:25741868|PMID:28492532 10049558 CV190603 NM_020822.3(KCNT1):c.99A>G (p.Gln33=) variant DOID:0080439 developmental and epileptic encephalopathy 14 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:25741868|PMID:28492532 10049558 CV190603 NM_020822.3(KCNT1):c.99A>G (p.Gln33=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10049559 CV190606 NM_021072.4(HCN1):c.140G>T (p.Gly47Val) variant DOID:0080429 developmental and epileptic encephalopathy 24 IAGP D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 24 PMID:24747641|PMID:25678871|PMID:25741868|PMID:26073591|PMID:26467025|PMID:28488083|PMID:28492532 10049559 CV190606 NM_021072.4(HCN1):c.140G>T (p.Gly47Val) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24747641|PMID:25678871|PMID:25741868|PMID:26073591|PMID:26467025|PMID:28488083|PMID:28492532 10049559 CV190606 NM_021072.4(HCN1):c.140G>T (p.Gly47Val) variant DOID:630 genetic disease IAGP D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24747641|PMID:25678871|PMID:25741868|PMID:26073591|PMID:26467025|PMID:28488083|PMID:28492532 10049560 CV190607 NM_021072.4(HCN1):c.336C>A (p.Arg112=) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 10049560 CV190607 NM_021072.4(HCN1):c.336C>A (p.Arg112=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10049562 CV190609 NM_021120.4(DLG3):c.197C>T (p.Thr66Ile) variant DOID:630 genetic disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10049563 CV190613 NM_022039.4(FBXW4):c.461T>A (p.Val154Glu) variant DOID:0090025 split hand-foot malformation 3 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Split hand-foot malformation 3 PMID:25741868 10049564 CV190614 NM_022437.3(ABCG8):c.-19T>G variant DOID:0070634 sitosterolemia 1 IAGP D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Sitosterolemia 1 PMID:25741868 10049564 CV190614 NM_022437.3(ABCG8):c.-19T>G variant DOID:0090019 sitosterolemia IAGP D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Sitosterolemia PMID:25741868 10049567 CV190617 NM_024426.6(WT1):c.123G>C (p.Pro41=) variant DOID:0080383 nephrotic syndrome type 4 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 4 PMID:25741868|PMID:28492532 10049567 CV190617 NM_024426.6(WT1):c.123G>C (p.Pro41=) variant DOID:2154 nephroblastoma IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Wilms tumor 1 PMID:25741868|PMID:28492532 10049567 CV190617 NM_024426.6(WT1):c.123G>C (p.Pro41=) variant DOID:3764 Denys-Drash syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Drash syndrome PMID:25741868|PMID:28492532 10049567 CV190617 NM_024426.6(WT1):c.123G>C (p.Pro41=) variant DOID:630 genetic disease IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10049567 CV190617 NM_024426.6(WT1):c.123G>C (p.Pro41=) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532 10049567 CV190617 NM_024426.6(WT1):c.123G>C (p.Pro41=) variant DOID:9007195 Meacham Winn Culler Syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Meacham syndrome PMID:25741868|PMID:28492532 10049568 CV190618 NM_024426.6(WT1):c.345C>T (p.Pro115=) variant DOID:0050438 Frasier syndrome IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Frasier syndrome PMID:25741868|PMID:26467025|PMID:28492532 10049568 CV190618 NM_024426.6(WT1):c.345C>T (p.Pro115=) variant DOID:0080383 nephrotic syndrome type 4 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 4 PMID:25741868|PMID:26467025|PMID:28492532 10049568 CV190618 NM_024426.6(WT1):c.345C>T (p.Pro115=) variant DOID:2154 nephroblastoma IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Wilms tumor 1 PMID:25741868|PMID:26467025|PMID:28492532 10049568 CV190618 NM_024426.6(WT1):c.345C>T (p.Pro115=) variant DOID:3764 Denys-Drash syndrome IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Drash syndrome PMID:25741868|PMID:26467025|PMID:28492532 10049568 CV190618 NM_024426.6(WT1):c.345C>T (p.Pro115=) variant DOID:630 genetic disease IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 10049568 CV190618 NM_024426.6(WT1):c.345C>T (p.Pro115=) variant DOID:9007195 Meacham Winn Culler Syndrome IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Meacham syndrome PMID:25741868|PMID:26467025|PMID:28492532 10049569 CV190619 NM_024592.5(SRD5A3):c.51G>T (p.Ala17=) variant DOID:0080568 congenital disorder of glycosylation Iq IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1Q PMID:28492532 10049570 CV190620 NM_024592.5(SRD5A3):c.43C>T (p.Leu15=) variant DOID:0080568 congenital disorder of glycosylation Iq IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1Q PMID:25741868|PMID:28492532 10049571 CV190622 NM_024809.5(TCTN2):c.-2G>A variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 10049572 CV190623 NM_025074.7(FRAS1):c.39G>A (p.Ala13=) variant DOID:0111405 Fraser syndrome 1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: FRAS1-related condition PMID:28492532 10049574 CV190625 NM_025237.3(SOST):c.-10G>A variant DOID:0060251 sclerosteosis IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: CORTICAL HYPEROSTOSIS WITH SYNDACTYLY PMID:25741868 10049574 CV190625 NM_025237.3(SOST):c.-10G>A variant DOID:0060756 sclerosteosis 1 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Sclerosteosis 1 PMID:25741868 10049576 CV190629 NM_001201543.2(FAM161A):c.176G>A (p.Gly59Glu) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive 10049577 CV190630 NM_001201543.2(FAM161A):c.165T>G (p.Ala55=) variant DOID:0110365 retinitis pigmentosa 28 IAGP D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 28 PMID:25741868|PMID:28492532 10049577 CV190630 NM_001201543.2(FAM161A):c.165T>G (p.Ala55=) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532 10049579 CV190632 NM_032575.3(GLIS2):c.15C>T (p.Asp5=) variant DOID:0111116 nephronophthisis 7 IAGP D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: GLIS2-related condition 10049580 CV190633 NC_000012.12:g.121626879_121626884delACCGCC variant DOID:0111976 immunodeficiency 9 IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Immune dysfunction with T-cell inactivation due to calcium entry defect 1 PMID:24033266|PMID:28492532 10049581 CV190634 NM_032790.4(ORAI1):c.1A>T (p.Met1Leu) variant DOID:0111976 immunodeficiency 9 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency due to ORAI1 deficiency PMID:25741868|PMID:28492532 10049582 CV190635 NM_033028.5(BBS4):c.24+8C>T variant DOID:0110126 Bardet-Biedl syndrome 4 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 4 PMID:25741868|PMID:28492532 10049582 CV190635 NM_033028.5(BBS4):c.24+8C>T variant DOID:1935 Bardet-Biedl syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:25741868|PMID:28492532 10049583 CV190637 NM_033087.4(ALG2):c.84C>G (p.Gly28=) variant DOID:0050571 congenital disorder of glycosylation type II IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: CDG Ii PMID:25741868|PMID:28492532 10049583 CV190637 NM_033087.4(ALG2):c.84C>G (p.Gly28=) variant DOID:0080561 congenital disorder of glycosylation Ii IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1I PMID:25741868|PMID:28492532 10049583 CV190637 NM_033087.4(ALG2):c.84C>G (p.Gly28=) variant DOID:0110669 congenital myasthenic syndrome 14 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 14 PMID:25741868|PMID:28492532 10049584 CV190638 NM_033100.4(CDHR1):c.1A>G (p.Met1Val) variant DOID:0111021 cone-rod dystrophy 15 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 15 PMID:25741868|PMID:26306921|PMID:28492532|PMID:31816670|PMID:31964843|PMID:32037395|PMID:32681094|PMID:34906470 10049584 CV190638 NM_033100.4(CDHR1):c.1A>G (p.Met1Val) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:26306921|PMID:28492532|PMID:31816670|PMID:31964843|PMID:32037395|PMID:32681094|PMID:34906470 10049584 CV190638 NM_033100.4(CDHR1):c.1A>G (p.Met1Val) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:26306921|PMID:28492532|PMID:31816670|PMID:31964843|PMID:32037395|PMID:32681094|PMID:34906470 10049585 CV190639 NM_033100.4(CDHR1):c.-1C>T variant DOID:0111021 cone-rod dystrophy 15 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 15 PMID:25741868 10049586 CV190640 NM_033337.3(CAV3):c.-2C>T variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868 10049587 CV190641 NM_080605.4(B3GALT6):c.909G>A (p.Glu303=) variant DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, progeroid type, 2 PMID:28492532 10049587 CV190641 NM_080605.4(B3GALT6):c.909G>A (p.Glu303=) variant DOID:0112197 spondyloepimetaphyseal dysplasia with joint laxity IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia with joint laxity PMID:28492532 10049588 CV190642 NM_080605.4(B3GALT6):c.138C>T (p.Ser46=) variant DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2 PMID:25741868|PMID:28492532 10049590 CV190644 NM_080669.6(SLC46A1):c.22C>T (p.Pro8Ser) variant DOID:0111678 hereditary folate malabsorption IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: SLC46A1-related condition PMID:25741868|PMID:28492532 10049590 CV190644 NM_080669.6(SLC46A1):c.22C>T (p.Pro8Ser) variant DOID:630 genetic disease IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10049591 CV190645 NM_080669.6(SLC46A1):c.158C>T (p.Ala53Val) variant DOID:0111678 hereditary folate malabsorption IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: SLC46A1-related condition PMID:25741868|PMID:28492532 10049591 CV190645 NM_080669.6(SLC46A1):c.158C>T (p.Ala53Val) variant DOID:630 genetic disease IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10049592 CV190646 NM_080916.3(DGUOK):c.4G>T (p.Ala2Ser) variant DOID:0080121 mitochondrial DNA depletion syndrome 3 IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA-depletion syndrome 3, hepatocerebral PMID:17073823|PMID:22622127|PMID:25741868|PMID:28492532 10049594 CV190649 NM_133497.4(KCNV2):c.48G>C (p.Trp16Cys) variant DOID:0081022 retinal cone dystrophy 3B IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: CONE DYSTROPHY WITH SUPERNORMAL ROD RESPONSES PMID:25741868|PMID:28492532 10049594 CV190649 NM_133497.4(KCNV2):c.48G>C (p.Trp16Cys) variant DOID:5723 optic atrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:25741868|PMID:28492532 10049594 CV190649 NM_133497.4(KCNV2):c.48G>C (p.Trp16Cys) variant DOID:630 genetic disease IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10049594 CV190649 NM_133497.4(KCNV2):c.48G>C (p.Trp16Cys) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532 10049595 CV190653 NM_133497.4(KCNV2):c.706A>G (p.Met236Val) variant DOID:630 genetic disease IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10049597 CV190655 NM_006950.3(SYN1):c.316G>T (p.Ala106Ser) variant DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: X-linked epilepsy-learning disabilities-behavior disorders syndrome PMID:28492532 10049599 CV190657 NM_001365088.1(SLC12A6):c.230C>G (p.Pro77Arg) variant DOID:0090003 agenesis of the corpus callosum with peripheral neuropathy IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Agenesis of the corpus callosum with peripheral neuropathy PMID:25741868|PMID:28492532 10049600 CV190661 NM_145167.3(PIGM):c.137G>A (p.Arg46Lys) variant DOID:9007061 Glycosylphosphatidylinositol Biosynthesis Defect 1 IAGP D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 1 PMID:28492532 10049601 CV190662 NM_145167.3(PIGM):c.819G>A (p.Pro273=) variant DOID:9007061 Glycosylphosphatidylinositol Biosynthesis Defect 1 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 1 PMID:25741868|PMID:28492532 10049605 CV190666 NM_147127.5(EVC2):c.18C>T (p.Ser6=) variant DOID:12714 Ellis-Van Creveld syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:28492532 10049606 CV190667 NM_147127.5(EVC2):c.122C>A (p.Pro41His) variant DOID:0111571 Weyers acrofacial dysostosis IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Curry-Hall syndrome PMID:25741868|PMID:28492532 10049606 CV190667 NM_147127.5(EVC2):c.122C>A (p.Pro41His) variant DOID:12714 Ellis-Van Creveld syndrome IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld Syndrome PMID:25741868|PMID:28492532 10049607 CV190668 NM_153240.5(NPHP3):c.105G>A (p.Lys35=) variant DOID:0070121 Meckel syndrome 7 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Meckel syndrome type 7 PMID:25741868|PMID:28492532 10049607 CV190668 NM_153240.5(NPHP3):c.105G>A (p.Lys35=) variant DOID:0111112 nephronophthisis 1 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:25741868|PMID:28492532 10049607 CV190668 NM_153240.5(NPHP3):c.105G>A (p.Lys35=) variant DOID:0111114 nephronophthisis 3 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Nephronophthisis 3 PMID:25741868|PMID:28492532 10049607 CV190668 NM_153240.5(NPHP3):c.105G>A (p.Lys35=) variant DOID:12712 nephronophthisis IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:25741868|PMID:28492532 10049607 CV190668 NM_153240.5(NPHP3):c.105G>A (p.Lys35=) variant DOID:557 kidney disease IAGP D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases PMID:25741868|PMID:28492532 10049607 CV190668 NM_153240.5(NPHP3):c.105G>A (p.Lys35=) variant DOID:9001991 Renal-Hepatic-Pancreatic Dysplasia 1 IAGP D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Renal-hepatic-pancreatic dysplasia 1 PMID:25741868|PMID:28492532 10049608 CV190670 NM_001386393.1(PANK2):c.2T>A variant DOID:3981 pantothenate kinase-associated neurodegeneration IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Pigmentary pallidal degeneration PMID:25741868|PMID:28492532 10049609 CV190671 NM_153704.6(TMEM67):c.25G>A (p.Val9Met) variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:25412400|PMID:25741868|PMID:28492532 10049609 CV190671 NM_153704.6(TMEM67):c.25G>A (p.Val9Met) variant DOID:0050778 Meckel syndrome IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:25412400|PMID:25741868|PMID:28492532 10049609 CV190671 NM_153704.6(TMEM67):c.25G>A (p.Val9Met) variant DOID:0070115 Meckel syndrome 1 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Dysencephalia splachnocystica PMID:25412400|PMID:25741868|PMID:28492532 10049609 CV190671 NM_153704.6(TMEM67):c.25G>A (p.Val9Met) variant DOID:0070117 Meckel syndrome 3 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 3 PMID:25412400|PMID:25741868|PMID:28492532 10049609 CV190671 NM_153704.6(TMEM67):c.25G>A (p.Val9Met) variant DOID:0110136 Bardet-Biedl syndrome 14 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 14 PMID:25412400|PMID:25741868|PMID:28492532 10049609 CV190671 NM_153704.6(TMEM67):c.25G>A (p.Val9Met) variant DOID:0110980 Joubert syndrome 1 IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Joubert syndrome 1 PMID:25412400|PMID:25741868|PMID:28492532 10049609 CV190671 NM_153704.6(TMEM67):c.25G>A (p.Val9Met) variant DOID:0111001 Joubert syndrome 6 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Joubert syndrome 6 PMID:25412400|PMID:25741868|PMID:28492532 10049609 CV190671 NM_153704.6(TMEM67):c.25G>A (p.Val9Met) variant DOID:0111118 nephronophthisis 11 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Nephronophthisis 11 PMID:25412400|PMID:25741868|PMID:28492532 10049609 CV190671 NM_153704.6(TMEM67):c.25G>A (p.Val9Met) variant DOID:9000639 COACH Syndrome 1 IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: COACH syndrome 1 PMID:25412400|PMID:25741868|PMID:28492532 10049609 CV190671 NM_153704.6(TMEM67):c.25G>A (p.Val9Met) variant DOID:9005786 RHYNS Syndrome IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa syndrome PMID:25412400|PMID:25741868|PMID:28492532 10049610 CV190672 NM_153717.3(EVC):c.8G>C (p.Arg3Pro) variant DOID:0111571 Weyers acrofacial dysostosis IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: WEYERS ACRODENTAL DYSOSTOSIS PMID:25741868|PMID:28492532|PMID:32234057 10049610 CV190672 NM_153717.3(EVC):c.8G>C (p.Arg3Pro) variant DOID:12714 Ellis-Van Creveld syndrome IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:25741868|PMID:28492532|PMID:32234057 10049610 CV190672 NM_153717.3(EVC):c.8G>C (p.Arg3Pro) variant DOID:630 genetic disease IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:32234057 10049611 CV190673 NM_173660.5(DOK7):c.-6C>G variant DOID:0111376 fetal akinesia deformation sequence syndrome 3 IAGP D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: DOK7-related condition PMID:25741868|PMID:26467025 10049612 CV190674 NM_182894.3(VSX2):c.336G>A (p.Ser112=) variant DOID:0060839 isolated microphthalmia 2 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Microphthalmia, isolated 2 PMID:28492532 10049612 CV190674 NM_182894.3(VSX2):c.336G>A (p.Ser112=) variant DOID:10629 microphthalmia IAGP D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Microphthalmia PMID:28492532 10049613 CV190675 NM_182943.3(PLOD2):c.-4G>A variant DOID:9002665 Bruck Syndrome 2 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: PLOD2-related condition 10049617 CV190680 NM_001291867.2(NHS):c.49C>T (p.Arg17Trp) variant DOID:630 genetic disease IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10049618 CV190682 NM_198586.3(NHLRC1):c.46A>G (p.Met16Val) variant DOID:0061211 Lafora disease 2 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: LAFORA DISEASE 2 PMID:25741868|PMID:26467025|PMID:28492532 10049618 CV190682 NM_198586.3(NHLRC1):c.46A>G (p.Met16Val) variant DOID:3534 Lafora disease IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Lafora disease PMID:25741868|PMID:26467025|PMID:28492532 10049618 CV190682 NM_198586.3(NHLRC1):c.46A>G (p.Met16Val) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 10049619 CV190683 NM_201548.5(CERKL):c.27G>A (p.Arg9=) variant DOID:0110368 retinitis pigmentosa 26 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 26 PMID:28492532 10049619 CV190683 NM_201548.5(CERKL):c.27G>A (p.Arg9=) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532 10049620 CV190684 NM_201548.5(CERKL):c.66C>G (p.Pro22=) variant DOID:0110368 retinitis pigmentosa 26 IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 26 PMID:28492532 10049620 CV190684 NM_201548.5(CERKL):c.66C>G (p.Pro22=) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive PMID:28492532 10049621 CV190685 NM_203288.2(RP9):c.34G>A (p.Ala12Thr) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532 10049623 CV190688 NM_207361.6(FREM2):c.2740T>G (p.Cys914Gly) variant DOID:0111407 Fraser syndrome 2 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Fraser syndrome 2 PMID:28492532 10049624 CV190690 NM_207361.6(FREM2):c.4567C>T (p.Arg1523Cys) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10049625 CV190691 NM_207361.6(FREM2):c.177T>C (p.Gly59=) variant DOID:0111407 Fraser syndrome 2 IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Fraser syndrome 2 PMID:25741868|PMID:28492532 10049626 CV190692 NM_207361.6(FREM2):c.2367G>A (p.Pro789=) variant DOID:0111407 Fraser syndrome 2 IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Fraser syndrome 2 PMID:25741868|PMID:28492532 10049627 CV190693 NM_207361.6(FREM2):c.2823C>T (p.Pro941=) variant DOID:0111407 Fraser syndrome 2 IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Fraser syndrome 2 PMID:25741868|PMID:28492532 10049628 CV190694 NM_207361.6(FREM2):c.1580C>T (p.Ser527Leu) variant DOID:0111407 Fraser syndrome 2 IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Fraser syndrome 2 PMID:25741868|PMID:28492532 10049628 CV190694 NM_207361.6(FREM2):c.1580C>T (p.Ser527Leu) variant DOID:630 genetic disease IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10049629 CV190695 NM_207361.6(FREM2):c.4283G>A (p.Gly1428Glu) variant DOID:0111717 isolated cryptophthalmia IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Isolated cryptophthalmia PMID:25741868 10049630 CV190696 NM_207361.6(FREM2):c.2128C>T (p.Arg710Cys) variant DOID:0111407 Fraser syndrome 2 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Fraser syndrome 2 PMID:28492532 10049631 CV190705 NM_000018.4(ACADVL):c.1066A>G (p.Ile356Val) variant DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency IAGP D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:20480395|PMID:23867825|PMID:25741868|PMID:26385305|PMID:27209629|PMID:28492532|PMID:30194637|PMID:31031081|PMID:33123633 10049632 CV190706 NM_000019.4(ACAT1):c.941-14C>T variant DOID:14723 beta-ketothiolase deficiency IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Deficiency of acetyl-CoA acetyltransferase PMID:28492532 10049633 CV190707 NM_000019.4(ACAT1):c.941-7del variant DOID:14723 beta-ketothiolase deficiency IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Deficiency of acetyl-CoA acetyltransferase PMID:28492532 10049634 CV190709 NM_000026.4(ADSL):c.1060A>G (p.Thr354Ala) variant DOID:0050762 adenylosuccinase lyase deficiency IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:25741868|PMID:28492532 10049636 CV190713 NM_000033.4(ABCD1):c.1992-15C>T variant DOID:10588 adrenoleukodystrophy IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:28492532 10049637 CV190715 NM_000059.4(BRCA2):c.1661G>T (p.Cys554Phe) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:31911673 10049638 CV190716 NM_000059.4(BRCA2):c.1039C>A (p.Gln347Lys) variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:28492532|PMID:31911673 10049638 CV190716 NM_000059.4(BRCA2):c.1039C>A (p.Gln347Lys) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:28492532|PMID:31911673 10049639 CV190717 NM_000059.4(BRCA2):c.1909+11C>T variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:28492532 10049640 CV190718 NM_000059.4(BRCA2):c.1909+9G>T variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:28492532 10049641 CV190720 NM_000124.4(ERCC6):c.2048G>A (p.Arg683Gln) variant DOID:0080868 primary ovarian insufficiency 11 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 11 PMID:25741868|PMID:28492532 10049641 CV190720 NM_000124.4(ERCC6):c.2048G>A (p.Arg683Gln) variant DOID:0080908 Cockayne syndrome B IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Cockayne syndrome B PMID:25741868|PMID:28492532 10049641 CV190720 NM_000124.4(ERCC6):c.2048G>A (p.Arg683Gln) variant DOID:0080911 cerebrooculofacioskeletal syndrome 1 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 1 PMID:25741868|PMID:28492532 10049641 CV190720 NM_000124.4(ERCC6):c.2048G>A (p.Arg683Gln) variant DOID:0110028 age related macular degeneration 5 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Age related macular degeneration 5 PMID:25741868|PMID:28492532 10049641 CV190720 NM_000124.4(ERCC6):c.2048G>A (p.Arg683Gln) variant DOID:0112158 De Sanctis-Cacchione syndrome IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: DE SANCTIS-CACCHIONE SYNDROME PMID:25741868|PMID:28492532 10049641 CV190720 NM_000124.4(ERCC6):c.2048G>A (p.Arg683Gln) variant DOID:1324 lung cancer IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Lung cancer, somatic PMID:25741868|PMID:28492532 10049641 CV190720 NM_000124.4(ERCC6):c.2048G>A (p.Arg683Gln) variant DOID:9006274 UV-Sensitive Syndrome 1 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: UV-sensitive syndrome 1 PMID:25741868|PMID:28492532 10049642 CV190724 NM_000159.4(GCDH):c.997C>G (p.Gln333Glu) variant DOID:0111254 glutaric acidemia I IAGP D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:28492532|PMID:9711871 10049643 CV190725 NM_000159.4(GCDH):c.1011A>G (p.Ala337=) variant DOID:0111254 glutaric acidemia I IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Glutaryl-CoA dehydrogenase deficiency PMID:28492532 10049643 CV190725 NM_000159.4(GCDH):c.1011A>G (p.Ala337=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10049644 CV190731 NM_001128178.3(NPHP1):c.941C>G (p.Ala314Gly) variant DOID:0110999 Joubert syndrome 4 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Joubert syndrome 4 PMID:25741868|PMID:28492532 10049644 CV190731 NM_001128178.3(NPHP1):c.941C>G (p.Ala314Gly) variant DOID:12712 nephronophthisis IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:25741868|PMID:28492532 10049645 CV190732 NM_001128178.3(NPHP1):c.867A>G (p.Gln289=) variant DOID:0110999 Joubert syndrome 4 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Joubert syndrome 4 PMID:28492532 10049645 CV190732 NM_001128178.3(NPHP1):c.867A>G (p.Gln289=) variant DOID:0111112 nephronophthisis 1 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Nephronophthisis 1 PMID:28492532 10049645 CV190732 NM_001128178.3(NPHP1):c.867A>G (p.Gln289=) variant DOID:12712 nephronophthisis IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:28492532 10049645 CV190732 NM_001128178.3(NPHP1):c.867A>G (p.Gln289=) variant DOID:9004365 Senior-Loken Syndrome 1 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 1 PMID:28492532 10049646 CV190733 NM_001128178.3(NPHP1):c.912A>G (p.Gln304=) variant DOID:0110999 Joubert syndrome 4 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Joubert syndrome 4 PMID:25741868|PMID:28492532 10049646 CV190733 NM_001128178.3(NPHP1):c.912A>G (p.Gln304=) variant DOID:12712 nephronophthisis IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:25741868|PMID:28492532 10049647 CV190734 NM_000274.4(OAT):c.1224T>C (p.His408=) variant DOID:1415 gyrate atrophy IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Ornithine aminotransferase deficiency PMID:28492532 10049648 CV190735 NM_000275.3(OCA2):c.1045-9T>G variant DOID:0070096 oculocutaneous albinism type II IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Tyrosinase-positive oculocutaneous albinism PMID:25741868|PMID:28492532|PMID:29345414 10049648 CV190735 NM_000275.3(OCA2):c.1045-9T>G variant DOID:9000752 Skin/Hair/Eye Pigmentation, Variation In, 1 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES PMID:25741868|PMID:28492532|PMID:29345414 10049649 CV190737 NM_000275.3(OCA2):c.1103C>T (p.Ala368Val) variant DOID:0050632 oculocutaneous albinism IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Oculocutaneous albinism PMID:10671067|PMID:25741868|PMID:26474496|PMID:28451379|PMID:28492532|PMID:32830442|PMID:37650133 10049649 CV190737 NM_000275.3(OCA2):c.1103C>T (p.Ala368Val) variant DOID:0070096 oculocutaneous albinism type II IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Tyrosinase-positive oculocutaneous albinism PMID:10671067|PMID:25741868|PMID:26474496|PMID:28451379|PMID:28492532|PMID:32830442|PMID:37650133 10049649 CV190737 NM_000275.3(OCA2):c.1103C>T (p.Ala368Val) variant DOID:630 genetic disease IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10671067|PMID:25741868|PMID:26474496|PMID:28451379|PMID:28492532|PMID:32830442|PMID:37650133 10049649 CV190737 NM_000275.3(OCA2):c.1103C>T (p.Ala368Val) variant DOID:9000752 Skin/Hair/Eye Pigmentation, Variation In, 1 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES PMID:10671067|PMID:25741868|PMID:26474496|PMID:28451379|PMID:28492532|PMID:32830442|PMID:37650133 10049652 CV190743 NM_000350.3(ABCA4):c.1253T>C (p.Phe418Ser) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:21911583|PMID:25741868|PMID:26720470|PMID:28341476|PMID:28492532|PMID:28559085|PMID:28771251|PMID:29555955|PMID:30834176|PMID:31964843|PMID:32307445|PMID:37734845|PMID:38219857 10049652 CV190743 NM_000350.3(ABCA4):c.1253T>C (p.Phe418Ser) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:21911583|PMID:25741868|PMID:26720470|PMID:28341476|PMID:28492532|PMID:28559085|PMID:28771251|PMID:29555955|PMID:30834176|PMID:31964843|PMID:32307445|PMID:37734845|PMID:38219857 10049654 CV190746 NM_000391.4(TPP1):c.1241A>T (p.Asn414Ile) variant DOID:0110726 neuronal ceroid lipofuscinosis 2 IAGP D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Ceroid lipofuscinosis neuronal 2 PMID:25741868|PMID:26467025|PMID:27776828|PMID:28492532|PMID:28717666 10049654 CV190746 NM_000391.4(TPP1):c.1241A>T (p.Asn414Ile) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:27776828|PMID:28492532|PMID:28717666 10049656 CV190748 NM_000431.4(MVK):c.924C>T (p.Leu308=) variant DOID:0050452 mevalonic aciduria IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Mevalonic aciduria PMID:18414213|PMID:25741868|PMID:28492532 10049656 CV190748 NM_000431.4(MVK):c.924C>T (p.Leu308=) variant DOID:0081450 hyperimmunoglobulinemia D periodic fever syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Hyperimmunoglobulinemia D PMID:18414213|PMID:25741868|PMID:28492532 10049656 CV190748 NM_000431.4(MVK):c.924C>T (p.Leu308=) variant DOID:2935 Chediak-Higashi syndrome IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:18414213|PMID:25741868|PMID:28492532 10049656 CV190748 NM_000431.4(MVK):c.924C>T (p.Leu308=) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:18414213|PMID:25741868|PMID:28492532 10049656 CV190748 NM_000431.4(MVK):c.924C>T (p.Leu308=) variant DOID:9000408 Porokeratosis 3, Multiple Types IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: POROKERATOSIS 3, MULTIPLE TYPES PMID:18414213|PMID:25741868|PMID:28492532 10049657 CV190749 NM_201384.3(PLEC):c.933C>T (p.Phe311=) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy PMID:28492532 10049660 CV190756 NM_000492.4(CFTR):c.1365G>T (p.Ala455=) variant DOID:1485 cystic fibrosis IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Cystic fibrosis PMID:25741868|PMID:28492532 10049661 CV190757 NM_000492.4(CFTR):c.1312A>G (p.Thr438Ala) variant DOID:1485 cystic fibrosis IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Cystic fibrosis PMID:25741868 10049661 CV190757 NM_000492.4(CFTR):c.1312A>G (p.Thr438Ala) variant DOID:9008999 Hereditary Pancreatitis IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary pancreatitis PMID:25741868 10049662 CV190758 NM_000500.9(CYP21A2):c.1306C>T (p.Arg436Cys) variant DOID:9003733 Congenital Adrenal Hyperplasia due to 21 Hydroxylase Deficiency IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency PMID:11232002|PMID:23337727|PMID:25741868 10049664 CV190760 NM_000512.5(GALNS):c.1127G>A (p.Arg376Gln) variant DOID:0111391 mucopolysaccharidosis IVA IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A PMID:10699374|PMID:10814710|PMID:15235041|PMID:16287098|PMID:16837223|PMID:22940367|PMID:24767253|PMID:25137622|PMID:25287660|PMID:25501214|PMID:25741868|PMID:28492532|PMID:30487145|PMID:32014045|PMID:32102177|PMID:32483926|PMID:34387910|PMID:34405919|PMID:34573925|PMID:9521421 10049666 CV190763 NM_000540.3(RYR1):c.957+5_957+29del variant DOID:440 neuromuscular disease IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Neuromuscular disorder PMID:16917943|PMID:17576681|PMID:23628358|PMID:24033266|PMID:25741868|PMID:25960145|PMID:28492532|PMID:30842289|PMID:33190635|PMID:37510298|PMID:9536098 10049666 CV190763 NM_000540.3(RYR1):c.957+5_957+29del variant DOID:8545 malignant hyperthermia IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5 PMID:16917943|PMID:17576681|PMID:23628358|PMID:24033266|PMID:25741868|PMID:25960145|PMID:28492532|PMID:30842289|PMID:33190635|PMID:37510298|PMID:9536098 10049666 CV190763 NM_000540.3(RYR1):c.957+5_957+29del variant DOID:9005320 Malignant Fever IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Pharmacogenic myopathy PMID:16917943|PMID:17576681|PMID:23628358|PMID:24033266|PMID:25741868|PMID:25960145|PMID:28492532|PMID:30842289|PMID:33190635|PMID:37510298|PMID:9536098 10049667 CV190764 NM_000540.3(RYR1):c.845G>A (p.Arg282Gln) variant DOID:8545 malignant hyperthermia IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Malignant hyperpyrexia PMID:25741868|PMID:28492532 10049667 CV190764 NM_000540.3(RYR1):c.845G>A (p.Arg282Gln) variant DOID:9005320 Malignant Fever IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Pharmacogenic myopathy PMID:25741868|PMID:28492532 10049668 CV190765 NM_000548.5(TSC2):c.855C>T (p.Tyr285=) variant DOID:0080325 tuberous sclerosis 2 IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:25741868|PMID:28492532 10049668 CV190765 NM_000548.5(TSC2):c.855C>T (p.Tyr285=) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532 10049669 CV190766 NM_000751.3(CHRND):c.1105C>T (p.Pro369Ser) variant DOID:0110666 congenital myasthenic syndrome 3A IAGP D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 3a, slow-channel PMID:25741868|PMID:28492532 10049669 CV190766 NM_000751.3(CHRND):c.1105C>T (p.Pro369Ser) variant DOID:3635 congenital myasthenic syndrome IAGP D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome PMID:25741868|PMID:28492532 10049669 CV190766 NM_000751.3(CHRND):c.1105C>T (p.Pro369Ser) variant DOID:9005962 Multiple Pterygium Syndrome, Lethal Type IAGP D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Lethal multiple pterygium syndrome PMID:25741868|PMID:28492532 10049674 CV190775 NM_001023570.4(IQCB1):c.877-10G>A variant DOID:12712 nephronophthisis IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:25741868|PMID:28492532 10049674 CV190775 NM_001023570.4(IQCB1):c.877-10G>A variant DOID:9004221 Senior-Loken Syndrome 5 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 5 PMID:25741868|PMID:28492532 10049675 CV190776 NM_001025389.2(AMPD3):c.1445C>T (p.Ser482Leu) variant DOID:9006043 Erythrocyte Amp Deaminase Deficiency IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Erythrocyte AMP deaminase deficiency PMID:25158045 10049676 CV190777 NM_001360016.2(G6PD):c.1245C>T (p.Pro415=) variant DOID:0051003 congenital nonspherocytic hemolytic anemia 1 IAGP D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: ANEMIA, CONGENITAL, NONSPHEROCYTIC HEMOLYTIC, 1 PMID:28492532 10049676 CV190777 NM_001360016.2(G6PD):c.1245C>T (p.Pro415=) variant DOID:12365 malaria IAGP D RGD:8554872 20250821 ClinVar ClinVar Annotator: match by term: G6PD-related disorder PMID:28492532 10049676 CV190777 NM_001360016.2(G6PD):c.1245C>T (p.Pro415=) variant DOID:13628 favism IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Favism, susceptibility to PMID:28492532 10049677 CV190778 NM_001042432.2(CLN3):c.754C>T (p.Pro252Ser) variant DOID:0110731 neuronal ceroid lipofuscinosis 3 IAGP D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 3 PMID:25741868|PMID:28492532 10049677 CV190778 NM_001042432.2(CLN3):c.754C>T (p.Pro252Ser) variant DOID:14503 neuronal ceroid lipofuscinosis IAGP D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:25741868|PMID:28492532 10049678 CV190779 NM_001042432.2(CLN3):c.776C>T (p.Pro259Leu) variant DOID:0110731 neuronal ceroid lipofuscinosis 3 IAGP D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 3 PMID:25741868|PMID:28492532 10049678 CV190779 NM_001042432.2(CLN3):c.776C>T (p.Pro259Leu) variant DOID:14503 neuronal ceroid lipofuscinosis IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:25741868|PMID:28492532 10049678 CV190779 NM_001042432.2(CLN3):c.776C>T (p.Pro259Leu) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10049679 CV190780 NM_001044385.3(TMEM237):c.871A>G (p.Ile291Val) variant DOID:0110983 Joubert syndrome 14 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Joubert syndrome 14 PMID:28492532 10049680 CV190781 NM_001061.7(TBXAS1):c.1159G>A (p.Glu387Lys) variant DOID:0112251 Ghosal hematodiaphyseal syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: TBXAS1-related condition PMID:28492532 10049681 CV190783 NM_001378615.1(CC2D2A):c.832C>T (p.Arg278Trp) variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:25741868|PMID:28492532 10049681 CV190783 NM_001378615.1(CC2D2A):c.832C>T (p.Arg278Trp) variant DOID:0070120 Meckel syndrome 6 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 6 PMID:25741868|PMID:28492532 10049682 CV190784 NM_001330078.2(NRXN1):c.1382C>T (p.Pro461Leu) variant DOID:0111332 Pitt-Hopkins-like syndrome 2 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 PMID:28492532 10049682 CV190784 NM_001330078.2(NRXN1):c.1382C>T (p.Pro461Leu) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10049683 CV190785 NM_001330078.2(NRXN1):c.1688T>C (p.Ile563Thr) variant DOID:0111332 Pitt-Hopkins-like syndrome 2 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 PMID:26467025|PMID:28492532 10049683 CV190785 NM_001330078.2(NRXN1):c.1688T>C (p.Ile563Thr) variant DOID:630 genetic disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532 10049683 CV190785 NM_001330078.2(NRXN1):c.1688T>C (p.Ile563Thr) variant DOID:9001388 CHROMOSOME 2p16.3 DELETION SYNDROME IAGP D RGD:8554872 20250821 ClinVar ClinVar Annotator: match by term: NRXN1-related disorder PMID:26467025|PMID:28492532 10049684 CV190786 NM_001330078.2(NRXN1):c.1531A>G (p.Thr511Ala) variant DOID:0111332 Pitt-Hopkins-like syndrome 2 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 PMID:28492532 10049685 CV190787 NM_001330078.2(NRXN1):c.1326A>C (p.Val442=) variant DOID:0111332 Pitt-Hopkins-like syndrome 2 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 PMID:25741868|PMID:26467025|PMID:28492532 10049685 CV190787 NM_001330078.2(NRXN1):c.1326A>C (p.Val442=) variant DOID:630 genetic disease IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 10049686 CV190788 NM_001277115.2(DNAH11):c.1720A>G (p.Ile574Val) variant DOID:9562 primary ciliary dyskinesia IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 10049687 CV190789 NM_000501.4(ELN):c.493G>T (p.Val165Leu) variant DOID:1929 supravalvular aortic stenosis IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Supravalvar aortic stenosis PMID:25741868|PMID:28492532 10049688 CV190793 NM_001457.4(FLNB):c.1559C>T (p.Pro520Leu) variant DOID:0080096 myofibrillar myopathy 5 IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: FLNB-Related Disorders PMID:25741868|PMID:28492532 10049688 CV190793 NM_001457.4(FLNB):c.1559C>T (p.Pro520Leu) variant DOID:14764 Larsen syndrome IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: FLNB-Related Spectrum Disorders PMID:25741868|PMID:28492532 10049689 CV190794 NM_001458.5(FLNC):c.1600G>A (p.Glu534Lys) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:25741868|PMID:28492532 10049689 CV190794 NM_001458.5(FLNC):c.1600G>A (p.Glu534Lys) variant DOID:0080096 myofibrillar myopathy 5 IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy, filamin C-related PMID:25741868|PMID:28492532 10049689 CV190794 NM_001458.5(FLNC):c.1600G>A (p.Glu534Lys) variant DOID:0110327 hypertrophic cardiomyopathy 26 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 26 PMID:25741868|PMID:28492532 10049689 CV190794 NM_001458.5(FLNC):c.1600G>A (p.Glu534Lys) variant DOID:0111190 distal myopathy 4 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Distal myopathy with posterior leg and anterior hand involvement PMID:25741868|PMID:28492532 10049689 CV190794 NM_001458.5(FLNC):c.1600G>A (p.Glu534Lys) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant PMID:25741868|PMID:28492532 10049690 CV190796 NM_001493.3(GDI1):c.1167C>T (p.Pro389=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10049691 CV190797 NM_001849.4(COL6A2):c.988G>A (p.Asp330Asn) variant DOID:0050663 Bethlem myopathy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, benign congenital PMID:25741868|PMID:28492532 10049691 CV190797 NM_001849.4(COL6A2):c.988G>A (p.Asp330Asn) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:25741868|PMID:28492532 10049691 CV190797 NM_001849.4(COL6A2):c.988G>A (p.Asp330Asn) variant DOID:9007626 Myosclerosis, Autosomal Recessive IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Myosclerosis PMID:25741868|PMID:28492532 10049692 CV190799 NM_001918.5(DBT):c.1210-10dup variant DOID:9269 maple syrup urine disease IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:28492532 10049693 CV190800 NM_001999.4(FBN2):c.1365G>T (p.Gly455=) variant DOID:0111595 congenital contractural arachnodactyly IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Congenital contractural arachnodactyly PMID:28492532 10049693 CV190800 NM_001999.4(FBN2):c.1365G>T (p.Gly455=) variant DOID:0111603 distal arthrogryposis type 7 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Beals-Hecht syndrome PMID:28492532 10049693 CV190800 NM_001999.4(FBN2):c.1365G>T (p.Gly455=) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:28492532 10049694 CV190804 NM_002335.4(LRP5):c.2193C>T (p.Asn731=) variant DOID:0060849 osteoporosis-pseudoglioma syndrome IAGP D RGD:8554872 20240213 ClinVar ClinVar Annotator: match by term: Pseudoglioma with bone fragility PMID:25741868|PMID:26467025|PMID:28492532 10049694 CV190804 NM_002335.4(LRP5):c.2193C>T (p.Asn731=) variant DOID:0060977 polycystic liver disease 4 IAGP D RGD:8554872 20240213 ClinVar ClinVar Annotator: match by term: Polycystic liver disease 4 with or without kidney cysts PMID:25741868|PMID:26467025|PMID:28492532 10049694 CV190804 NM_002335.4(LRP5):c.2193C>T (p.Asn731=) variant DOID:0080037 Worth syndrome IAGP D RGD:8554872 20240213 ClinVar ClinVar Annotator: match by term: Osteosclerosis autosomal dominant Worth type PMID:25741868|PMID:26467025|PMID:28492532 10049694 CV190804 NM_002335.4(LRP5):c.2193C>T (p.Asn731=) variant DOID:0110937 autosomal dominant osteopetrosis 1 IAGP D RGD:8554872 20240213 ClinVar ClinVar Annotator: match by term: OSTEOPETROSIS, AUTOSOMAL DOMINANT, TYPE I PMID:25741868|PMID:26467025|PMID:28492532 10049694 CV190804 NM_002335.4(LRP5):c.2193C>T (p.Asn731=) variant DOID:0111411 exudative vitreoretinopathy 4 IAGP D RGD:8554872 20240213 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 4 PMID:25741868|PMID:26467025|PMID:28492532 10049694 CV190804 NM_002335.4(LRP5):c.2193C>T (p.Asn731=) variant DOID:0111412 exudative vitreoretinopathy 1 IAGP D RGD:8554872 20240213 ClinVar ClinVar Annotator: match by term: Familial exudative vitreoretinopathy, autosomal dominant PMID:25741868|PMID:26467025|PMID:28492532 10049694 CV190804 NM_002335.4(LRP5):c.2193C>T (p.Asn731=) variant DOID:11476 osteoporosis IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 1 PMID:25741868|PMID:26467025|PMID:28492532 10049694 CV190804 NM_002335.4(LRP5):c.2193C>T (p.Asn731=) variant DOID:12347 osteogenesis imperfecta IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:25741868|PMID:26467025|PMID:28492532 10049695 CV190805 NM_002335.4(LRP5):c.2236C>T (p.Arg746Trp) variant DOID:0060849 osteoporosis-pseudoglioma syndrome IAGP D RGD:8554872 20240213 ClinVar ClinVar Annotator: match by term: Pseudoglioma with bone fragility PMID:25741868|PMID:28492532|PMID:28494495|PMID:30452590 10049695 CV190805 NM_002335.4(LRP5):c.2236C>T (p.Arg746Trp) variant DOID:0060977 polycystic liver disease 4 IAGP D RGD:8554872 20240213 ClinVar ClinVar Annotator: match by term: Polycystic liver disease 4 with or without kidney cysts PMID:25741868|PMID:28492532|PMID:28494495|PMID:30452590 10049695 CV190805 NM_002335.4(LRP5):c.2236C>T (p.Arg746Trp) variant DOID:0080037 Worth syndrome IAGP D RGD:8554872 20240213 ClinVar ClinVar Annotator: match by term: Osteosclerosis autosomal dominant Worth type PMID:25741868|PMID:28492532|PMID:28494495|PMID:30452590 10049695 CV190805 NM_002335.4(LRP5):c.2236C>T (p.Arg746Trp) variant DOID:0110937 autosomal dominant osteopetrosis 1 IAGP D RGD:8554872 20240213 ClinVar ClinVar Annotator: match by term: OSTEOPETROSIS, AUTOSOMAL DOMINANT, TYPE I PMID:25741868|PMID:28492532|PMID:28494495|PMID:30452590 10049695 CV190805 NM_002335.4(LRP5):c.2236C>T (p.Arg746Trp) variant DOID:0111411 exudative vitreoretinopathy 4 IAGP D RGD:8554872 20240213 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 4 PMID:25741868|PMID:28492532|PMID:28494495|PMID:30452590 10049695 CV190805 NM_002335.4(LRP5):c.2236C>T (p.Arg746Trp) variant DOID:0111412 exudative vitreoretinopathy 1 IAGP D RGD:8554872 20240213 ClinVar ClinVar Annotator: match by term: Familial exudative vitreoretinopathy, autosomal dominant PMID:25741868|PMID:28492532|PMID:28494495|PMID:30452590 10049695 CV190805 NM_002335.4(LRP5):c.2236C>T (p.Arg746Trp) variant DOID:11476 osteoporosis IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 1 PMID:25741868|PMID:28492532|PMID:28494495|PMID:30452590 10049697 CV190810 NM_001365536.1(SCN9A):c.1109C>T (p.Thr370Met) variant DOID:0070155 hereditary sensory and autonomic neuropathy type 2A IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIA PMID:26467025|PMID:28492532 10049697 CV190810 NM_001365536.1(SCN9A):c.1109C>T (p.Thr370Met) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532 10049698 CV190811 NM_001365536.1(SCN9A):c.1238T>C (p.Ile413Thr) variant DOID:0070155 hereditary sensory and autonomic neuropathy type 2A IAGP D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIA PMID:25741868|PMID:28492532 10049698 CV190811 NM_001365536.1(SCN9A):c.1238T>C (p.Ile413Thr) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10049698 CV190811 NM_001365536.1(SCN9A):c.1238T>C (p.Ile413Thr) variant DOID:9240 erythromelalgia IAGP D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Primary erythromelalgia PMID:25741868|PMID:28492532 10049699 CV190812 NM_001365536.1(SCN9A):c.1149C>T (p.Val383=) variant DOID:0070155 hereditary sensory and autonomic neuropathy type 2A IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIA PMID:28492532 10049699 CV190812 NM_001365536.1(SCN9A):c.1149C>T (p.Val383=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10049700 CV190813 NM_001365536.1(SCN9A):c.1314+7T>C variant DOID:0070155 hereditary sensory and autonomic neuropathy type 2A IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A PMID:28492532 10049701 CV190814 NM_001323289.2(CDKL5):c.800A>G (p.Asn267Ser) variant DOID:0080467 developmental and epileptic encephalopathy 2 IAGP D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 PMID:28492532 10049702 CV190815 NM_003193.5(TBCE):c.847A>T (p.Ile283Phe) variant DOID:0060348 hypoparathyroidism-retardation-dysmorphism syndrome IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Hypoparathyroidism-retardation-dysmorphism syndrome PMID:25741868|PMID:28492532 10049702 CV190815 NM_003193.5(TBCE):c.847A>T (p.Ile283Phe) variant DOID:630 genetic disease IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10049703 CV190817 NM_003322.6(TULP1):c.961T>G (p.Tyr321Asp) variant DOID:0110381 retinitis pigmentosa 14 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 14 PMID:23847139|PMID:25741868|PMID:28492532 10049704 CV190820 NM_003482.4(KMT2D):c.2368C>T (p.Pro790Ser) variant DOID:0060473 Kabuki syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kabuki syndrome PMID:25741868|PMID:28492532 10049704 CV190820 NM_003482.4(KMT2D):c.2368C>T (p.Pro790Ser) variant DOID:9001255 Kabuki Syndrome 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868|PMID:28492532 10049706 CV190823 NM_003482.4(KMT2D):c.2204G>T (p.Cys735Phe) variant DOID:0060473 Kabuki syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Kabuki syndrome PMID:28492532 10049706 CV190823 NM_003482.4(KMT2D):c.2204G>T (p.Cys735Phe) variant DOID:9001255 Kabuki Syndrome 1 IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: KMT2D-Related Disorders PMID:28492532 10049707 CV190824 NM_003611.3(OFD1):c.936-2A>G variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:25741868|PMID:28492532 10049707 CV190824 NM_003611.3(OFD1):c.936-2A>G variant DOID:0060316 orofaciodigital syndrome I IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Oral-Facial-Digital Syndrome Type I PMID:25741868|PMID:28492532 10049707 CV190824 NM_003611.3(OFD1):c.936-2A>G variant DOID:0080205 CAKUT IAGP D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract PMID:25741868|PMID:28492532 10049707 CV190824 NM_003611.3(OFD1):c.936-2A>G variant DOID:0110980 Joubert syndrome 1 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Agenesis of cerebellar vermis PMID:25741868|PMID:28492532 10049709 CV190831 NM_004260.4(RECQL4):c.1685G>A (p.Arg562Gln) variant DOID:0050654 Baller-Gerold syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Baller-Gerold syndrome PMID:28492532 10049709 CV190831 NM_004260.4(RECQL4):c.1685G>A (p.Arg562Gln) variant DOID:9005992 Rothmund-Thomson Syndrome Type 2 IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Rothmund-Thomson syndrome type 2 PMID:28492532 10049709 CV190831 NM_004260.4(RECQL4):c.1685G>A (p.Arg562Gln) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:28492532 10049710 CV190833 NM_004333.6(BRAF):c.1305G>A (p.Arg435=) variant DOID:0080690 RASopathy IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 10049712 CV190835 NM_004369.4(COL6A3):c.4436A>T (p.Gln1479Leu) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:25380242|PMID:25741868|PMID:28492532 10049713 CV190836 NM_001379180.1(ESRRB):c.*1604G>A variant DOID:0110493 autosomal recessive nonsyndromic deafness 35 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 35 PMID:25741868|PMID:28492532 10049714 CV190837 NM_004595.5(SMS):c.978G>A (p.Ser326=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10049715 CV190839 NM_133642.5(LARGE1):c.1071T>C (p.Asn357=) variant DOID:0110637 muscular dystrophy-dystroglycanopathy type B6 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 PMID:28492532 10049716 CV190841 NM_005045.4(RELN):c.1035A>G (p.Leu345=) variant DOID:0060902 Norman-Roberts syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Norman-Roberts syndrome PMID:28492532 10049717 CV190842 NM_005359.6(SMAD4):c.1216G>A (p.Ala406Thr) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections 10049717 CV190842 NM_005359.6(SMAD4):c.1216G>A (p.Ala406Thr) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome 10049718 CV190844 NM_005609.4(PYGM):c.1237A>T (p.Asn413Tyr) variant DOID:2746 glycogen storage disease V IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Myophosphorylase deficiency PMID:28492532 10049719 CV190847 NM_005881.4(BCKDK):c.847G>A (p.Ala283Thr) variant DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency IAGP D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 10049720 CV190848 NM_005881.4(BCKDK):c.904A>G (p.Ile302Val) variant DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency IAGP D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:25741868 10049721 CV190849 NM_005957.5(MTHFR):c.1556G>T (p.Arg519Leu) variant DOID:0111907 thrombophilia due to thrombin defect IAGP D RGD:8554872 20200728 ClinVar ClinVar Annotator: match by term: THROMBOPHILIA DUE TO FACTOR 2 DEFECT PMID:18523009|PMID:25741868|PMID:28492532 10049721 CV190849 NM_005957.5(MTHFR):c.1556G>T (p.Arg519Leu) variant DOID:5419 schizophrenia IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: SCHIZOPHRENIA WITH OR WITHOUT AN AFFECTIVE DISORDER PMID:18523009|PMID:25741868|PMID:28492532 10049721 CV190849 NM_005957.5(MTHFR):c.1556G>T (p.Arg519Leu) variant DOID:9001648 Methylenetetrahydrofolate Reductase Deficiency IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency PMID:18523009|PMID:25741868|PMID:28492532 10049721 CV190849 NM_005957.5(MTHFR):c.1556G>T (p.Arg519Leu) variant DOID:9001989 Folate-Sensitive Neural Tube Defects IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neural tube defects, folate-sensitive PMID:18523009|PMID:25741868|PMID:28492532 10049722 CV190850 NM_172245.4(CSF2RA):c.921C>T (p.Ser307=) variant DOID:9005853 Pulmonary Surfactant Metabolism Dysfunction 4 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 4 PMID:28492532 10049723 CV190851 NM_006208.3(ENPP1):c.1056T>G (p.Ala352=) variant DOID:9001198 Hypophosphatemic Rickets, Autosomal Recessive, 2 IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Hypophosphatemic rickets, autosomal recessive, 2 PMID:25741868|PMID:28492532 10049723 CV190851 NM_006208.3(ENPP1):c.1056T>G (p.Ala352=) variant DOID:9006958 Generalized Arterial Calcification of Infancy, 1 IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1 PMID:25741868|PMID:28492532 10049724 CV190853 NM_006516.4(SLC2A1):c.1446G>C (p.Leu482=) variant DOID:0070561 glucose transporter type 1 deficiency syndrome 1 IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: GLUT1 deficiency syndrome 1, autosomal recessive PMID:28492532 10049725 CV190857 NM_007294.4(BRCA1):c.2980T>C (p.Cys994Arg) variant DOID:0060979 Fanconi anemia complementation group S IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Fanconi anemia, complementation group S PMID:25741868|PMID:28492532|PMID:31911673 10049725 CV190857 NM_007294.4(BRCA1):c.2980T>C (p.Cys994Arg) variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 PMID:25741868|PMID:28492532|PMID:31911673 10049725 CV190857 NM_007294.4(BRCA1):c.2980T>C (p.Cys994Arg) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532|PMID:31911673 10049726 CV190858 NM_007294.4(BRCA1):c.1467G>A (p.Glu489=) variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 PMID:25741868|PMID:28492532 10049726 CV190858 NM_007294.4(BRCA1):c.1467G>A (p.Glu489=) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532 10049727 CV190859 NM_007294.4(BRCA1):c.3858T>C (p.Ser1286=) variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 PMID:28492532 10049727 CV190859 NM_007294.4(BRCA1):c.3858T>C (p.Ser1286=) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20200410 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:28492532 10049728 CV190860 NM_007294.4(BRCA1):c.1880T>G (p.Val627Gly) variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 PMID:28492532|PMID:31911673|PMID:32101877|PMID:35918668 10049728 CV190860 NM_007294.4(BRCA1):c.1880T>G (p.Val627Gly) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:28492532|PMID:31911673|PMID:32101877|PMID:35918668 10049728 CV190860 NM_007294.4(BRCA1):c.1880T>G (p.Val627Gly) variant DOID:9008952 Breast Cancer, Familial IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:28492532|PMID:31911673|PMID:32101877|PMID:35918668 10049729 CV190862 NM_012301.4(MAGI2):c.1530C>T (p.Tyr510=) variant DOID:0080271 nephrotic syndrome type 15 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome 15 PMID:25741868|PMID:28492532 10049730 CV190863 NM_012301.4(MAGI2):c.2012T>C (p.Ile671Thr) variant DOID:0080271 nephrotic syndrome type 15 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome 15 PMID:25741868 10049732 CV190866 NM_014141.6(CNTNAP2):c.1603G>A (p.Glu535Lys) variant DOID:0090130 cortical dysplasia-focal epilepsy syndrome IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 1 PMID:25741868|PMID:28492532 10049733 CV190867 NM_014141.6(CNTNAP2):c.1526G>A (p.Ser509Asn) variant DOID:0090130 cortical dysplasia-focal epilepsy syndrome IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 1 PMID:28492532 10049734 CV190868 NM_001330260.2(SCN8A):c.1241A>T (p.Tyr414Phe) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532|PMID:29056246 10049735 CV190869 NM_014363.6(SACS):c.4076T>C (p.Met1359Thr) variant DOID:0050946 Charlevoix-Saguenay spastic ataxia IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia PMID:18414213|PMID:22287014|PMID:25741868|PMID:26467025|PMID:27980752|PMID:28492532|PMID:34600502 10049735 CV190869 NM_014363.6(SACS):c.4076T>C (p.Met1359Thr) variant DOID:2476 hereditary spastic paraplegia IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:18414213|PMID:22287014|PMID:25741868|PMID:26467025|PMID:27980752|PMID:28492532|PMID:34600502 10049735 CV190869 NM_014363.6(SACS):c.4076T>C (p.Met1359Thr) variant DOID:607 paraplegia IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:18414213|PMID:22287014|PMID:25741868|PMID:26467025|PMID:27980752|PMID:28492532|PMID:34600502 10049736 CV190870 NM_014363.6(SACS):c.13717A>C (p.Asn4573His) variant DOID:0050946 Charlevoix-Saguenay spastic ataxia IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia PMID:19779133|PMID:22287014|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28832565|PMID:31519934|PMID:36233161 10049736 CV190870 NM_014363.6(SACS):c.13717A>C (p.Asn4573His) variant DOID:2476 hereditary spastic paraplegia IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:19779133|PMID:22287014|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28832565|PMID:31519934|PMID:36233161 10049736 CV190870 NM_014363.6(SACS):c.13717A>C (p.Asn4573His) variant DOID:607 paraplegia IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:19779133|PMID:22287014|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28832565|PMID:31519934|PMID:36233161 10049737 CV190871 NM_014363.6(SACS):c.8133G>A (p.Ser2711=) variant DOID:0050946 Charlevoix-Saguenay spastic ataxia IAGP D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia PMID:25741868|PMID:28492532 10049737 CV190871 NM_014363.6(SACS):c.8133G>A (p.Ser2711=) variant DOID:607 paraplegia IAGP D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:25741868|PMID:28492532 10049738 CV190872 NM_014363.6(SACS):c.2643G>C (p.Glu881Asp) variant DOID:0050946 Charlevoix-Saguenay spastic ataxia IAGP D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia PMID:25741868|PMID:28492532 10049738 CV190872 NM_014363.6(SACS):c.2643G>C (p.Glu881Asp) variant DOID:607 paraplegia IAGP D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:25741868|PMID:28492532 10049739 CV190873 NM_014363.6(SACS):c.8414C>T (p.Thr2805Ile) variant DOID:0050946 Charlevoix-Saguenay spastic ataxia IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia PMID:25741868|PMID:26467025|PMID:28492532 10049739 CV190873 NM_014363.6(SACS):c.8414C>T (p.Thr2805Ile) variant DOID:607 paraplegia IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:25741868|PMID:26467025|PMID:28492532 10049739 CV190873 NM_014363.6(SACS):c.8414C>T (p.Thr2805Ile) variant DOID:630 genetic disease IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 10049740 CV190875 NM_014363.6(SACS):c.3074A>T (p.Asn1025Ile) variant DOID:0050946 Charlevoix-Saguenay spastic ataxia IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia PMID:23280630|PMID:25741868|PMID:26467025|PMID:28492532 10049740 CV190875 NM_014363.6(SACS):c.3074A>T (p.Asn1025Ile) variant DOID:607 paraplegia IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:23280630|PMID:25741868|PMID:26467025|PMID:28492532 10049741 CV190876 NM_014780.5(CUL7):c.2318G>A (p.Arg773Gln) variant DOID:630 genetic disease IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10049742 CV190877 NM_014795.4(ZEB2):c.3219C>T (p.His1073=) variant DOID:0060485 Mowat-Wilson syndrome IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Mowat-Wilson syndrome PMID:25741868|PMID:28492532 10049742 CV190877 NM_014795.4(ZEB2):c.3219C>T (p.His1073=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10049743 CV190880 NM_015272.5(RPGRIP1L):c.1156A>G (p.Lys386Glu) variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:25741868|PMID:28492532|PMID:32483926 10049743 CV190880 NM_015272.5(RPGRIP1L):c.1156A>G (p.Lys386Glu) variant DOID:0050778 Meckel syndrome IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:25741868|PMID:28492532|PMID:32483926 10049743 CV190880 NM_015272.5(RPGRIP1L):c.1156A>G (p.Lys386Glu) variant DOID:0070115 Meckel syndrome 1 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Gruber syndrome PMID:25741868|PMID:28492532|PMID:32483926 10049743 CV190880 NM_015272.5(RPGRIP1L):c.1156A>G (p.Lys386Glu) variant DOID:0070119 Meckel syndrome 5 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 5 PMID:25741868|PMID:28492532|PMID:32483926 10049743 CV190880 NM_015272.5(RPGRIP1L):c.1156A>G (p.Lys386Glu) variant DOID:0110980 Joubert syndrome 1 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:25741868|PMID:28492532|PMID:32483926 10049743 CV190880 NM_015272.5(RPGRIP1L):c.1156A>G (p.Lys386Glu) variant DOID:0111002 Joubert syndrome 7 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Joubert syndrome 7 PMID:25741868|PMID:28492532|PMID:32483926 10049743 CV190880 NM_015272.5(RPGRIP1L):c.1156A>G (p.Lys386Glu) variant DOID:12712 nephronophthisis IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Nephronophthisis 8 PMID:25741868|PMID:28492532|PMID:32483926 10049743 CV190880 NM_015272.5(RPGRIP1L):c.1156A>G (p.Lys386Glu) variant DOID:5723 optic atrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:25741868|PMID:28492532|PMID:32483926 10049743 CV190880 NM_015272.5(RPGRIP1L):c.1156A>G (p.Lys386Glu) variant DOID:630 genetic disease IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:32483926 10049743 CV190880 NM_015272.5(RPGRIP1L):c.1156A>G (p.Lys386Glu) variant DOID:9000639 COACH Syndrome 1 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: COACH syndrome 1 PMID:25741868|PMID:28492532|PMID:32483926 10049744 CV190881 NM_015404.4(WHRN):c.2237-10C>G variant DOID:0110490 autosomal recessive nonsyndromic deafness 31 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 31 PMID:28492532 10049744 CV190881 NM_015404.4(WHRN):c.2237-10C>G variant DOID:0110840 Usher syndrome type 2D IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Usher syndrome, type 2D PMID:28492532 10049745 CV190882 NM_015488.5(PNKD):c.1010G>A (p.Arg337His) variant DOID:0090049 paroxysmal nonkinesigenic dyskinesia 1 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia PMID:25741868|PMID:28492532 10049747 CV190885 NM_015910.7(WDPCP):c.989C>T (p.Ser330Leu) variant DOID:0110137 Bardet-Biedl syndrome 15 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 15 PMID:25741868 10049747 CV190885 NM_015910.7(WDPCP):c.989C>T (p.Ser330Leu) variant DOID:0111591 congenital heart defects, hamartomas of tongue, and polysyndactyly IAGP D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: WDPCP-related condition PMID:25741868 10049748 CV190886 NM_015910.7(WDPCP):c.1333G>C (p.Ala445Pro) variant DOID:0110137 Bardet-Biedl syndrome 15 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 15 PMID:25741868|PMID:28492532 10049748 CV190886 NM_015910.7(WDPCP):c.1333G>C (p.Ala445Pro) variant DOID:1935 Bardet-Biedl syndrome IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:25741868|PMID:28492532 10049749 CV190887 NM_001378964.1(CDON):c.1855G>C (p.Asp619His) variant DOID:0110877 holoprosencephaly 11 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 11 PMID:28492532 10049749 CV190887 NM_001378964.1(CDON):c.1855G>C (p.Asp619His) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10049750 CV190888 NM_017780.4(CHD7):c.2751G>A (p.Thr917=) variant DOID:0050834 CHARGE syndrome IAGP D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: CHARGE association PMID:26467025|PMID:28492532 10049750 CV190888 NM_017780.4(CHD7):c.2751G>A (p.Thr917=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532 10049751 CV190889 NM_018100.4(EFHC1):c.1675T>C (p.Leu559=) variant DOID:0070309 absence epilepsy IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Absence epilepsy PMID:28492532 10049751 CV190889 NM_018100.4(EFHC1):c.1675T>C (p.Leu559=) variant DOID:4890 juvenile myoclonic epilepsy IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: EJM1 PMID:28492532 10049752 CV190890 NM_001378120.1(MBD5):c.2840G>A (p.Gly947Glu) variant DOID:0070031 autosomal dominant intellectual developmental disorder 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 1 PMID:25741868|PMID:28492532 10049753 CV190895 NM_020754.4(ARHGAP31):c.1430C>T (p.Pro477Leu) variant DOID:9004220 Adams-Oliver Syndrome 1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: ARHGAP31-related condition PMID:28492532 10049755 CV190898 NM_021939.4(FKBP10):c.1667G>A (p.Arg556His) variant DOID:0110351 osteogenesis imperfecta type 11 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta, type XI PMID:25741868|PMID:28492532 10049755 CV190898 NM_021939.4(FKBP10):c.1667G>A (p.Arg556His) variant DOID:630 genetic disease IAGP D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10049755 CV190898 NM_021939.4(FKBP10):c.1667G>A (p.Arg556His) variant DOID:9007227 Bruck Syndrome 1 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bruck syndrome 1 PMID:25741868|PMID:28492532 10049756 CV190899 NM_022437.3(ABCG8):c.1486A>G (p.Lys496Glu) variant DOID:0070634 sitosterolemia 1 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Sitosterolemia 1 PMID:25741868|PMID:28492532 10049758 CV190901 NM_001384732.1(CPLANE1):c.1371+5A>G variant DOID:0060376 Joubert syndrome with orofaciodigital defect IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Orofaciodigital syndrome VI PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 10049758 CV190901 NM_001384732.1(CPLANE1):c.1371+5A>G variant DOID:0110986 Joubert Syndrome 17 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Joubert syndrome 17 PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 10049759 CV190902 NM_024312.5(GNPTAB):c.1144A>C (p.Thr382Pro) variant DOID:0080070 mucolipidosis II alpha/beta IAGP D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Mucolipidosis type II PMID:25741868|PMID:28492532|PMID:32651481 10049761 CV190905 NM_001191061.2(SLC25A22):c.834C>T (p.His278=) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 10049761 CV190905 NM_001191061.2(SLC25A22):c.834C>T (p.His278=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10049764 CV190909 NM_031471.6(FERMT3):c.1188G>A (p.Gln396=) variant DOID:0110912 leukocyte adhesion deficiency 3 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 10049765 CV190911 NM_031885.5(BBS2):c.1190C>G (p.Thr397Ser) variant DOID:0110124 Bardet-Biedl syndrome 2 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 2 PMID:25741868|PMID:28492532 10049765 CV190911 NM_031885.5(BBS2):c.1190C>G (p.Thr397Ser) variant DOID:1935 Bardet-Biedl syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:25741868|PMID:28492532 10049765 CV190911 NM_031885.5(BBS2):c.1190C>G (p.Thr397Ser) variant DOID:630 genetic disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10049766 CV190912 NM_032119.4(ADGRV1):c.1854G>A (p.Glu618=) variant DOID:0110839 Usher syndrome type 2C IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2C PMID:28492532 10049767 CV190913 NM_182961.4(SYNE1):c.862G>A (p.Ala288Thr) variant DOID:0111618 autosomal recessive spinocerebellar ataxia 8 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type PMID:25741868|PMID:26467025|PMID:28492532 10049768 CV190916 NM_058246.4(DNAJB6):c.947C>T (p.Ser316Leu) variant DOID:0110305 autosomal dominant limb-girdle muscular dystrophy type 1 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, autosomal dominant 1 PMID:25741868|PMID:28492532 10049768 CV190916 NM_058246.4(DNAJB6):c.947C>T (p.Ser316Leu) variant DOID:630 genetic disease IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10049768 CV190916 NM_058246.4(DNAJB6):c.947C>T (p.Ser316Leu) variant DOID:9005244 Vacuolar Neuromyopathy IAGP D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT, WITH RIMMED VACUOLES PMID:25741868|PMID:28492532 10049770 CV190922 NM_133433.4(NIPBL):c.1833T>A (p.Ser611Arg) variant DOID:0080505 Cornelia de Lange syndrome 1 IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 PMID:25741868|PMID:28492532 10049770 CV190922 NM_133433.4(NIPBL):c.1833T>A (p.Ser611Arg) variant DOID:630 genetic disease IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10049772 CV190927 NM_001371596.2(MFSD8):c.886G>A (p.Asp296Asn) variant DOID:0110722 neuronal ceroid lipofuscinosis 7 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Ceroid lipofuscinosis neuronal 7 PMID:28492532 10049772 CV190927 NM_001371596.2(MFSD8):c.886G>A (p.Asp296Asn) variant DOID:0110726 neuronal ceroid lipofuscinosis 2 IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis PMID:28492532 10049772 CV190927 NM_001371596.2(MFSD8):c.886G>A (p.Asp296Asn) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10049773 CV190928 NM_176824.3(BBS7):c.1037G>A (p.Arg346Gln) variant DOID:0110129 Bardet-Biedl syndrome 7 IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 7 PMID:20177705|PMID:25741868|PMID:29970488|PMID:31964843|PMID:37431782 10049773 CV190928 NM_176824.3(BBS7):c.1037G>A (p.Arg346Gln) variant DOID:1935 Bardet-Biedl syndrome IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:20177705|PMID:25741868|PMID:29970488|PMID:31964843|PMID:37431782 10049774 CV190929 NM_207122.2(EXT2):c.1534G>T (p.Val512Leu) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10049774 CV190929 NM_207122.2(EXT2):c.1534G>T (p.Val512Leu) variant DOID:9003693 Multiple Exostoses Type II IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Multiple exostoses type 2 PMID:28492532 10049775 CV190930 NM_207346.3(TSEN54):c.1368C>T (p.Asp456=) variant DOID:0060264 pontocerebellar hypoplasia IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia PMID:25741868|PMID:26467025|PMID:28492532 10049775 CV190930 NM_207346.3(TSEN54):c.1368C>T (p.Asp456=) variant DOID:0060266 pontocerebellar hypoplasia type 1B IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia PMID:25741868|PMID:26467025|PMID:28492532 10049775 CV190930 NM_207346.3(TSEN54):c.1368C>T (p.Asp456=) variant DOID:0060273 pontocerebellar hypoplasia type 4 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: TSEN54-related condition PMID:25741868|PMID:26467025|PMID:28492532 10049776 CV190932 NM_001267550.2(TTN):c.29564A>G (p.Glu9855Gly) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:25741868|PMID:28492532 10049777 CV190933 NM_182914.3(SYNE2):c.18163G>A (p.Asp6055Asn) variant DOID:0070250 autosomal dominant Emery-Dreifuss muscular dystrophy 5 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 5, autosomal dominant PMID:28492532 10049778 CV190934 NM_182914.3(SYNE2):c.18039-5T>A variant DOID:0070250 autosomal dominant Emery-Dreifuss muscular dystrophy 5 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: SYNE2-related condition PMID:25741868|PMID:26467025|PMID:28492532 10049779 CV190935 NM_000540.3(RYR1):c.14717C>G (p.Ala4906Gly) variant DOID:0080102 congenital myopathy 4A IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion PMID:11741831|PMID:12642598|PMID:23558838|PMID:25741868|PMID:28492532|PMID:30611313 10049779 CV190935 NM_000540.3(RYR1):c.14717C>G (p.Ala4906Gly) variant DOID:0080990 King Denborough syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: King syndrome PMID:11741831|PMID:12642598|PMID:23558838|PMID:25741868|PMID:28492532|PMID:30611313 10049779 CV190935 NM_000540.3(RYR1):c.14717C>G (p.Ala4906Gly) variant DOID:0080991 congenital myopathy 1B IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Multiminicore disease with external ophthalmoplegia PMID:11741831|PMID:12642598|PMID:23558838|PMID:25741868|PMID:28492532|PMID:30611313 10049779 CV190935 NM_000540.3(RYR1):c.14717C>G (p.Ala4906Gly) variant DOID:3529 congenital myopathy 1A IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Shy-Magee syndrome PMID:11741831|PMID:12642598|PMID:23558838|PMID:25741868|PMID:28492532|PMID:30611313 10049779 CV190935 NM_000540.3(RYR1):c.14717C>G (p.Ala4906Gly) variant DOID:422 congenital structural myopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy PMID:11741831|PMID:12642598|PMID:23558838|PMID:25741868|PMID:28492532|PMID:30611313 10049779 CV190935 NM_000540.3(RYR1):c.14717C>G (p.Ala4906Gly) variant DOID:8545 malignant hyperthermia IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant hyperpyrexia PMID:11741831|PMID:12642598|PMID:23558838|PMID:25741868|PMID:28492532|PMID:30611313 10049779 CV190935 NM_000540.3(RYR1):c.14717C>G (p.Ala4906Gly) variant DOID:9005320 Malignant Fever IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pharmacogenic myopathy PMID:11741831|PMID:12642598|PMID:23558838|PMID:25741868|PMID:28492532|PMID:30611313 10049780 CV190936 NM_182961.4(SYNE1):c.19424G>A (p.Arg6475Gln) variant DOID:0111618 autosomal recessive spinocerebellar ataxia 8 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type PMID:25741868|PMID:28492532 10049781 CV190937 NM_182914.3(SYNE2):c.18641G>A (p.Arg6214Lys) variant DOID:0070250 autosomal dominant Emery-Dreifuss muscular dystrophy 5 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 5, autosomal dominant PMID:28492532 10049782 CV190938 NM_182961.4(SYNE1):c.19508A>G (p.Asn6503Ser) variant DOID:0070249 autosomal dominant Emery-Dreifuss muscular dystrophy 4 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant PMID:25741868|PMID:26467025|PMID:28492532 10049782 CV190938 NM_182961.4(SYNE1):c.19508A>G (p.Asn6503Ser) variant DOID:0080979 arthrogryposis multiplex congenita-3 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, MYOGENIC TYPE PMID:25741868|PMID:26467025|PMID:28492532 10049782 CV190938 NM_182961.4(SYNE1):c.19508A>G (p.Asn6503Ser) variant DOID:0111618 autosomal recessive spinocerebellar ataxia 8 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type PMID:25741868|PMID:26467025|PMID:28492532 10049784 CV190940 NM_182961.4(SYNE1):c.19635G>T (p.Arg6545Ser) variant DOID:0070249 autosomal dominant Emery-Dreifuss muscular dystrophy 4 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES PMID:25741868|PMID:26467025|PMID:28492532|PMID:34162180 10049784 CV190940 NM_182961.4(SYNE1):c.19635G>T (p.Arg6545Ser) variant DOID:0111618 autosomal recessive spinocerebellar ataxia 8 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 PMID:25741868|PMID:26467025|PMID:28492532|PMID:34162180 10049784 CV190940 NM_182961.4(SYNE1):c.19635G>T (p.Arg6545Ser) variant DOID:630 genetic disease IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532|PMID:34162180 10049785 CV190941 NM_001267550.2(TTN):c.30513A>T (p.Glu10171Asp) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:25741868|PMID:28492532 10049786 CV190942 NM_182914.3(SYNE2):c.19135C>T (p.Arg6379Cys) variant DOID:0070250 autosomal dominant Emery-Dreifuss muscular dystrophy 5 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: SYNE2-related condition PMID:25741868|PMID:26467025|PMID:28492532|PMID:37012247|PMID:37667433 10049788 CV190944 NM_001164508.2(NEB):c.20577+6G>A variant DOID:0110928 nemaline myopathy 2 IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 2 PMID:17576681|PMID:28492532|PMID:9536098 10049789 CV190946 NM_001164508.2(NEB):c.20671C>T (p.Leu6891Phe) variant DOID:0070336 arthrogryposis multiplex congenita-6 IAGP D RGD:8554872 20250821 ClinVar ClinVar Annotator: match by term: NEB-related disorder PMID:25741868|PMID:28492532 10049789 CV190946 NM_001164508.2(NEB):c.20671C>T (p.Leu6891Phe) variant DOID:0110928 nemaline myopathy 2 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 2 PMID:25741868|PMID:28492532 10049791 CV190948 NM_000016.6(ACADM):c.1007G>A (p.Ser336Asn) variant DOID:0080153 medium chain acyl-CoA dehydrogenase deficiency IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Medium-chain acyl-coenzyme A dehydrogenase deficiency PMID:22683754|PMID:28492532|PMID:8198141 10049792 CV190949 NM_000018.4(ACADVL):c.1153C>T (p.Arg385Trp) variant DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:15210884|PMID:16488171|PMID:23798014|PMID:25655073|PMID:25741868|PMID:26385305|PMID:27246109|PMID:28492532|PMID:28755359|PMID:32655480|PMID:33150772 10049793 CV190951 NM_000036.3(AMPD1):c.1432A>G (p.Met478Val) variant DOID:9008558 MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscle AMP deaminase deficiency PMID:28492532 10049795 CV190954 NM_000059.4(BRCA2):c.3451A>C (p.Ile1151Leu) variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:28492532|PMID:31911673 10049795 CV190954 NM_000059.4(BRCA2):c.3451A>C (p.Ile1151Leu) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:28492532|PMID:31911673 10049796 CV190955 NM_000070.3(CAPN3):c.1477C>T (p.Arg493Trp) variant DOID:0110275 autosomal recessive limb-girdle muscular dystrophy type 2A IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2A PMID:10330340|PMID:17236769|PMID:18055493|PMID:18073330|PMID:18334579|PMID:25079074|PMID:25741868|PMID:26467025|PMID:27363342|PMID:28492532 10049796 CV190955 NM_000070.3(CAPN3):c.1477C>T (p.Arg493Trp) variant DOID:9006843 Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 4 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, autosomal dominant 4 PMID:10330340|PMID:17236769|PMID:18055493|PMID:18073330|PMID:18334579|PMID:25079074|PMID:25741868|PMID:26467025|PMID:27363342|PMID:28492532 10049797 CV190956 NM_000071.3(CBS):c.992C>T (p.Ala331Val) variant DOID:1059 intellectual disability IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:22267502|PMID:25741868|PMID:28492532|PMID:33057012|PMID:8528202|PMID:9156316 10049797 CV190956 NM_000071.3(CBS):c.992C>T (p.Ala331Val) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:22267502|PMID:25741868|PMID:28492532|PMID:33057012|PMID:8528202|PMID:9156316 10049797 CV190956 NM_000071.3(CBS):c.992C>T (p.Ala331Val) variant DOID:9263 homocystinuria IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:22267502|PMID:25741868|PMID:28492532|PMID:33057012|PMID:8528202|PMID:9156316 10049798 CV190957 NM_000071.3(CBS):c.1005C>T (p.Ala335=) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:28492532 10049798 CV190957 NM_000071.3(CBS):c.1005C>T (p.Ala335=) variant DOID:9263 homocystinuria IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:28492532 10049799 CV190959 NM_000152.5(GAA):c.1583G>C (p.Gly528Ala) variant DOID:2752 glycogen storage disease II IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type II PMID:25741868|PMID:28492532|PMID:31086307 10049800 CV190961 NM_000159.4(GCDH):c.1213A>G (p.Met405Val) variant DOID:0111254 glutaric acidemia I IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:16183314|PMID:17188916|PMID:19167251|PMID:19433275|PMID:25590979|PMID:25741868|PMID:27397597|PMID:28438223|PMID:28492532|PMID:31536184 10049801 CV190962 NM_000159.4(GCDH):c.1168G>C (p.Gly390Arg) variant DOID:0111254 glutaric acidemia I IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:11073722|PMID:15505393|PMID:17188916|PMID:18411069|PMID:25741868|PMID:27672653|PMID:28492532|PMID:30298489|PMID:32240488|PMID:8900228|PMID:9711871 10049802 CV190964 NM_000218.3(KCNQ1):c.1394-6C>T variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10049803 CV190965 NM_000238.4(KCNH2):c.2659C>T (p.Arg887Cys) variant DOID:0110645 long QT syndrome 2 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 PMID:25741868|PMID:28492532 10049803 CV190965 NM_000238.4(KCNH2):c.2659C>T (p.Arg887Cys) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10049803 CV190965 NM_000238.4(KCNH2):c.2659C>T (p.Arg887Cys) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Arrhythmia PMID:25741868|PMID:28492532 10049803 CV190965 NM_000238.4(KCNH2):c.2659C>T (p.Arg887Cys) variant DOID:9005764 Short QT Syndrome 1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Short QT syndrome type 1 PMID:25741868|PMID:28492532 10049804 CV190967 NM_001128178.3(NPHP1):c.986T>C (p.Ile329Thr) variant DOID:0110999 Joubert syndrome 4 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Joubert syndrome with renal defect PMID:25741868|PMID:28492532 10049804 CV190967 NM_001128178.3(NPHP1):c.986T>C (p.Ile329Thr) variant DOID:12712 nephronophthisis IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:25741868|PMID:28492532 10049806 CV190969 NM_000287.4(PEX6):c.2183C>T (p.Pro728Leu) variant DOID:0050444 infantile Refsum disease IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:25741868|PMID:28492532 10049806 CV190969 NM_000287.4(PEX6):c.2183C>T (p.Pro728Leu) variant DOID:0080479 peroxisome biogenesis disorder 4A IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 4A (Zellweger) PMID:25741868|PMID:28492532 10049806 CV190969 NM_000287.4(PEX6):c.2183C>T (p.Pro728Leu) variant DOID:0080624 Heimler syndrome 2 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 4C PMID:25741868|PMID:28492532 10049806 CV190969 NM_000287.4(PEX6):c.2183C>T (p.Pro728Leu) variant DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 IAGP D RGD:8554872 20250909 ClinVar ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 3 PMID:25741868|PMID:28492532 10049806 CV190969 NM_000287.4(PEX6):c.2183C>T (p.Pro728Leu) variant DOID:0081433 Peroxisome biogenesis disorder 4B IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 4B PMID:25741868|PMID:28492532 10049806 CV190969 NM_000287.4(PEX6):c.2183C>T (p.Pro728Leu) variant DOID:630 genetic disease IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10049806 CV190969 NM_000287.4(PEX6):c.2183C>T (p.Pro728Leu) variant DOID:905 Zellweger syndrome IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Zellweger Spectrum PMID:25741868|PMID:28492532 10049807 CV190970 NM_001034853.2(RPGR):c.1257A>C (p.Pro419=) variant DOID:9562 primary ciliary dyskinesia IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 10049808 CV190971 NM_001034853.2(RPGR):c.1348T>C (p.Cys450Arg) variant DOID:0111008 X-linked cone-rod dystrophy 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: X-linked cone-rod dystrophy 1 PMID:23150612|PMID:25741868|PMID:28492532 10049808 CV190971 NM_001034853.2(RPGR):c.1348T>C (p.Cys450Arg) variant DOID:9562 primary ciliary dyskinesia IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:23150612|PMID:25741868|PMID:28492532 10049811 CV190975 NM_001278116.2(L1CAM):c.1379+3G>A variant DOID:607 paraplegia IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 10049813 CV190978 NM_000541.5(SAG):c.875G>A (p.Arg292Gln) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532 10049813 CV190978 NM_000541.5(SAG):c.875G>A (p.Arg292Gln) variant DOID:8498 hereditary night blindness IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Oguchi's disease PMID:28492532 10049814 CV190979 NM_000666.3(ACY1):c.811G>A (p.Ala271Thr) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10049816 CV190982 NM_000883.4(IMPDH1):c.1108G>A (p.Ala370Thr) variant DOID:0110216 Leber congenital amaurosis 11 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 11 PMID:25741868|PMID:28492532 10049816 CV190982 NM_000883.4(IMPDH1):c.1108G>A (p.Ala370Thr) variant DOID:0110388 retinitis pigmentosa 10 IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 10 PMID:25741868|PMID:28492532 10049816 CV190982 NM_000883.4(IMPDH1):c.1108G>A (p.Ala370Thr) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant PMID:25741868|PMID:28492532 10049817 CV190983 NM_001003722.2(GLE1):c.1641T>C (p.Tyr547=) variant DOID:0060559 lethal congenital contracture syndrome 1 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Lethal congenital contracture syndrome 1 PMID:28492532 10049817 CV190983 NM_001003722.2(GLE1):c.1641T>C (p.Tyr547=) variant DOID:9003573 Congenital Arthrogryposis with Anterior Horn Cell Disease IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Lethal arthrogryposis with anterior horn cell disease PMID:28492532 10049819 CV190988 NM_001004334.4(GPR179):c.2410C>T (p.Arg804Trp) variant DOID:0110869 congenital stationary night blindness 1E IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: GPR179-related condition PMID:22325361|PMID:28492532 10049824 CV190999 NM_001134363.3(RBM20):c.3047G>C (p.Gly1016Ala) variant DOID:0110447 dilated cardiomyopathy 1DD IAGP D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1DD PMID:25741868|PMID:28492532 10049824 CV190999 NM_001134363.3(RBM20):c.3047G>C (p.Gly1016Ala) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:28492532 10049825 CV191000 NM_001330078.2(NRXN1):c.2008C>G (p.Pro670Ala) variant DOID:0111332 Pitt-Hopkins-like syndrome 2 IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 PMID:28492532 10049826 CV191001 NM_001330078.2(NRXN1):c.1843C>T (p.Leu615=) variant DOID:0111332 Pitt-Hopkins-like syndrome 2 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 PMID:28492532 10049827 CV191002 NM_001165963.4(SCN1A):c.1889G>A (p.Arg630Gln) variant DOID:0111183 familial hemiplegic migraine 3 IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Familial hemiplegic migraine type 3 PMID:28492532 10049827 CV191002 NM_001165963.4(SCN1A):c.1889G>A (p.Arg630Gln) variant DOID:0111294 generalized epilepsy with febrile seizures plus 2 IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 2 PMID:28492532 10049827 CV191002 NM_001165963.4(SCN1A):c.1889G>A (p.Arg630Gln) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 10049827 CV191002 NM_001165963.4(SCN1A):c.1889G>A (p.Arg630Gln) variant DOID:1826 epilepsy IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:28492532 10049829 CV191004 NM_001165963.4(SCN1A):c.1703G>A (p.Arg568Gln) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28387369|PMID:28492532|PMID:29056246 10049831 CV191007 NM_001429.4(EP300):c.2064A>G (p.Leu688=) variant DOID:1933 Rubinstein-Taybi syndrome IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:25741868|PMID:28492532 10049832 CV191008 NM_001110556.2(FLNA):c.1582G>A (p.Val528Met) variant DOID:0050454 periventricular nodular heterotopia IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Periventricular nodular heterotopia 1 PMID:12410386|PMID:20844545|PMID:25741868|PMID:28492532 10049832 CV191008 NM_001110556.2(FLNA):c.1582G>A (p.Val528Met) variant DOID:0111784 otopalatodigital syndrome type 2 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II PMID:12410386|PMID:20844545|PMID:25741868|PMID:28492532 10049832 CV191008 NM_001110556.2(FLNA):c.1582G>A (p.Val528Met) variant DOID:0111785 frontometaphyseal dysplasia IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Frontometaphyseal dysplasia PMID:12410386|PMID:20844545|PMID:25741868|PMID:28492532 10049832 CV191008 NM_001110556.2(FLNA):c.1582G>A (p.Val528Met) variant DOID:0111788 Melnick-Needles syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles PMID:12410386|PMID:20844545|PMID:25741868|PMID:28492532 10049832 CV191008 NM_001110556.2(FLNA):c.1582G>A (p.Val528Met) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:12410386|PMID:20844545|PMID:25741868|PMID:28492532 10049832 CV191008 NM_001110556.2(FLNA):c.1582G>A (p.Val528Met) variant DOID:9005082 Periventricular Nodular Heterotopia 4 IAGP D RGD:8554872 20180508 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant PMID:12410386|PMID:20844545|PMID:25741868|PMID:28492532 10049833 CV191009 NM_001458.5(FLNC):c.1698C>T (p.Ser566=) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:25741868|PMID:28492532 10049833 CV191009 NM_001458.5(FLNC):c.1698C>T (p.Ser566=) variant DOID:0080096 myofibrillar myopathy 5 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 5 PMID:25741868|PMID:28492532 10049833 CV191009 NM_001458.5(FLNC):c.1698C>T (p.Ser566=) variant DOID:0110327 hypertrophic cardiomyopathy 26 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 26 PMID:25741868|PMID:28492532 10049833 CV191009 NM_001458.5(FLNC):c.1698C>T (p.Ser566=) variant DOID:0111190 distal myopathy 4 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Distal myopathy with posterior leg and anterior hand involvement PMID:25741868|PMID:28492532 10049833 CV191009 NM_001458.5(FLNC):c.1698C>T (p.Ser566=) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant PMID:25741868|PMID:28492532 10049834 CV191011 NM_001793.6(CDH3):c.1443C>T (p.Asp481=) variant DOID:0111649 ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: EEM syndrome PMID:28492532 10049835 CV191013 NM_001848.3(COL6A1):c.904-10G>A variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1A PMID:25741868|PMID:28492532 10049837 CV191017 NM_002180.3(IGHMBP2):c.1546C>T (p.Arg516Cys) variant DOID:0111064 autosomal recessive distal hereditary motor neuronopathy 1 IAGP D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy, distal, autosomal recessive, 1 PMID:28492532 10049837 CV191017 NM_002180.3(IGHMBP2):c.1546C>T (p.Arg516Cys) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10049839 CV191020 NM_002693.3(POLG):c.1956C>T (p.Ile652=) variant DOID:0080122 Alpers-Huttenlocher syndrome IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy PMID:28492532 10049841 CV191022 NM_001365536.1(SCN9A):c.1555G>A (p.Glu519Lys) variant DOID:0050548 hereditary sensory neuropathy IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE PMID:19763161|PMID:25741868|PMID:26392352|PMID:26467025|PMID:28488083|PMID:28492532|PMID:29264398|PMID:29358611|PMID:30554136|PMID:32601768|PMID:37175987|PMID:37195288 10049841 CV191022 NM_001365536.1(SCN9A):c.1555G>A (p.Glu519Lys) variant DOID:0070155 hereditary sensory and autonomic neuropathy type 2A IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A PMID:19763161|PMID:25741868|PMID:26392352|PMID:26467025|PMID:28488083|PMID:28492532|PMID:29264398|PMID:29358611|PMID:30554136|PMID:32601768|PMID:37175987|PMID:37195288 10049841 CV191022 NM_001365536.1(SCN9A):c.1555G>A (p.Glu519Lys) variant DOID:0111295 generalized epilepsy with febrile seizures plus 7 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 7 PMID:19763161|PMID:25741868|PMID:26392352|PMID:26467025|PMID:28488083|PMID:28492532|PMID:29264398|PMID:29358611|PMID:30554136|PMID:32601768|PMID:37175987|PMID:37195288 10049841 CV191022 NM_001365536.1(SCN9A):c.1555G>A (p.Glu519Lys) variant DOID:0111537 paroxysmal extreme pain disorder IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Paroxysmal extreme pain disorder PMID:19763161|PMID:25741868|PMID:26392352|PMID:26467025|PMID:28488083|PMID:28492532|PMID:29264398|PMID:29358611|PMID:30554136|PMID:32601768|PMID:37175987|PMID:37195288 10049841 CV191022 NM_001365536.1(SCN9A):c.1555G>A (p.Glu519Lys) variant DOID:1826 epilepsy IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Seizure PMID:19763161|PMID:25741868|PMID:26392352|PMID:26467025|PMID:28488083|PMID:28492532|PMID:29264398|PMID:29358611|PMID:30554136|PMID:32601768|PMID:37175987|PMID:37195288 10049841 CV191022 NM_001365536.1(SCN9A):c.1555G>A (p.Glu519Lys) variant DOID:630 genetic disease IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19763161|PMID:25741868|PMID:26392352|PMID:26467025|PMID:28488083|PMID:28492532|PMID:29264398|PMID:29358611|PMID:30554136|PMID:32601768|PMID:37175987|PMID:37195288 10049841 CV191022 NM_001365536.1(SCN9A):c.1555G>A (p.Glu519Lys) variant DOID:9002272 Small Fiber Neuropathy IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Small fiber neuropathy PMID:19763161|PMID:25741868|PMID:26392352|PMID:26467025|PMID:28488083|PMID:28492532|PMID:29264398|PMID:29358611|PMID:30554136|PMID:32601768|PMID:37175987|PMID:37195288 10049841 CV191022 NM_001365536.1(SCN9A):c.1555G>A (p.Glu519Lys) variant DOID:9008324 Congenital Indifference to Pain, Autosomal Recessive IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Indifference to pain, congenital, autosomal recessive PMID:19763161|PMID:25741868|PMID:26392352|PMID:26467025|PMID:28488083|PMID:28492532|PMID:29264398|PMID:29358611|PMID:30554136|PMID:32601768|PMID:37175987|PMID:37195288 10049841 CV191022 NM_001365536.1(SCN9A):c.1555G>A (p.Glu519Lys) variant DOID:9008482 Congenital Pain Insensitivity IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Insensitivity to pain, channelopathy-associated PMID:19763161|PMID:25741868|PMID:26392352|PMID:26467025|PMID:28488083|PMID:28492532|PMID:29264398|PMID:29358611|PMID:30554136|PMID:32601768|PMID:37175987|PMID:37195288 10049841 CV191022 NM_001365536.1(SCN9A):c.1555G>A (p.Glu519Lys) variant DOID:9240 erythromelalgia IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Primary erythromelalgia PMID:19763161|PMID:25741868|PMID:26392352|PMID:26467025|PMID:28488083|PMID:28492532|PMID:29264398|PMID:29358611|PMID:30554136|PMID:32601768|PMID:37175987|PMID:37195288 10049842 CV191023 NM_001365536.1(SCN9A):c.1326G>A (p.Ala442=) variant DOID:0070155 hereditary sensory and autonomic neuropathy type 2A IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIA PMID:25741868|PMID:28492532 10049842 CV191023 NM_001365536.1(SCN9A):c.1326G>A (p.Ala442=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10049844 CV191025 NM_003283.6(TNNT1):c.580G>A (p.Asp194Asn) variant DOID:9009369 nemaline myopathy 5 IAGP D RGD:8554872 20250819 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 5 PMID:25741868|PMID:28492532 10049845 CV191029 NM_003482.4(KMT2D):c.3889C>T (p.Arg1297Cys) variant DOID:0060473 Kabuki syndrome IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Kabuki syndrome PMID:25741868|PMID:28492532 10049845 CV191029 NM_003482.4(KMT2D):c.3889C>T (p.Arg1297Cys) variant DOID:9001255 Kabuki Syndrome 1 IAGP D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868|PMID:28492532 10049845 CV191029 NM_003482.4(KMT2D):c.3889C>T (p.Arg1297Cys) variant DOID:9006871 BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome PMID:25741868|PMID:28492532 10049847 CV191034 NM_004006.3(DMD):c.1150-4T>A variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:28492532 10049847 CV191034 NM_004006.3(DMD):c.1150-4T>A variant DOID:11723 Duchenne muscular dystrophy IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:28492532 10049847 CV191034 NM_004006.3(DMD):c.1150-4T>A variant DOID:9883 Becker muscular dystrophy IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Becker muscular dystrophy PMID:28492532 10049849 CV191037 NM_004239.4(TRIP11):c.4063T>A (p.Ser1355Thr) variant DOID:0080054 achondrogenesis type IA IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:28492532 10049849 CV191037 NM_004239.4(TRIP11):c.4063T>A (p.Ser1355Thr) variant DOID:630 genetic disease IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10049850 CV191038 NM_004260.4(RECQL4):c.1872C>T (p.Val624=) variant DOID:0050654 Baller-Gerold syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Craniosynostosis with radial defects PMID:25741868|PMID:28492532 10049850 CV191038 NM_004260.4(RECQL4):c.1872C>T (p.Val624=) variant DOID:630 genetic disease IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10049850 CV191038 NM_004260.4(RECQL4):c.1872C>T (p.Val624=) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532 10049851 CV191039 NM_139343.3(BIN1):c.942C>T (p.His314=) variant DOID:0111220 centronuclear myopathy 2 IAGP D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Myopathy, centronuclear, 2 PMID:28492532 10049852 CV191040 NM_004369.4(COL6A3):c.5341A>G (p.Ile1781Val) variant DOID:0050663 Bethlem myopathy IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Myopathy, benign congenital, with contractures PMID:25741868|PMID:28492532 10049852 CV191040 NM_004369.4(COL6A3):c.5341A>G (p.Ile1781Val) variant DOID:0060946 Ullrich congenital muscular dystrophy 1A IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1 PMID:25741868|PMID:28492532 10049852 CV191040 NM_004369.4(COL6A3):c.5341A>G (p.Ile1781Val) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:25741868|PMID:28492532 10049852 CV191040 NM_004369.4(COL6A3):c.5341A>G (p.Ile1781Val) variant DOID:0090050 dystonia 27 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Dystonia 27 PMID:25741868|PMID:28492532 10049853 CV191041 NM_004519.4(KCNQ3):c.1564G>A (p.Val522Ile) variant DOID:14264 benign neonatal seizures IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Benign neonatal seizures PMID:28492532 10049853 CV191041 NM_004519.4(KCNQ3):c.1564G>A (p.Val522Ile) variant DOID:630 genetic disease IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10049853 CV191041 NM_004519.4(KCNQ3):c.1564G>A (p.Val522Ile) variant DOID:9003109 Benign Familial Neonatal Seizures, 2 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Benign familial neonatal seizures 2 PMID:28492532 10049854 CV191042 NM_001164508.2(NEB):c.863A>G (p.Lys288Arg) variant DOID:0110928 nemaline myopathy 2 IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 2 PMID:26467025|PMID:28492532 10049855 CV191044 NM_133642.5(LARGE1):c.1132-8C>T variant DOID:0110637 muscular dystrophy-dystroglycanopathy type B6 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 PMID:28492532 10049857 CV191046 NM_133642.5(LARGE1):c.1234C>T (p.Leu412=) variant DOID:0110637 muscular dystrophy-dystroglycanopathy type B6 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 PMID:28492532 10049858 CV191048 NM_005609.4(PYGM):c.1343C>T (p.Ala448Val) variant DOID:2746 glycogen storage disease V IAGP D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:25741868|PMID:28492532 10049859 CV191049 NM_005677.4(COLQ):c.674G>C (p.Gly225Ala) variant DOID:0110667 congenital myasthenic syndrome 5 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 5 PMID:28492532 10049860 CV191050 NM_201525.4(ADGRG1):c.1193T>C (p.Val398Ala) variant DOID:630 genetic disease IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10049861 CV191051 NM_006279.5(ST3GAL3):c.892-10C>T variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 10049862 CV191052 NM_006348.5(COG5):c.1096A>G (p.Met366Val) variant DOID:0070261 congenital disorder of glycosylation type IIi IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: COG5-CDG PMID:28492532 10049866 CV191057 NM_014140.4(SMARCAL1):c.1786G>A (p.Ala596Thr) variant DOID:0060490 Schimke immuno-osseous dysplasia IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Schimke immuno-osseous dysplasia PMID:25741868|PMID:28492532 10049866 CV191057 NM_014140.4(SMARCAL1):c.1786G>A (p.Ala596Thr) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10049867 CV191058 NM_014141.6(CNTNAP2):c.1723A>T (p.Ser575Cys) variant DOID:0090130 cortical dysplasia-focal epilepsy syndrome IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 1 PMID:28492532 10049867 CV191058 NM_014141.6(CNTNAP2):c.1723A>T (p.Ser575Cys) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10049869 CV191061 NM_014874.4(MFN2):c.1148C>T (p.Ala383Val) variant DOID:0050539 Charcot-Marie-Tooth disease type 2 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:17940179|PMID:22492563|PMID:24819634|PMID:26467025|PMID:27506976|PMID:28492532|PMID:32245838|PMID:35418194 10049870 CV191062 NM_015102.5(NPHP4):c.1319C>T (p.Ser440Leu) variant DOID:0111115 nephronophthisis 4 IAGP D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Nephronophthisis 4 PMID:25741868|PMID:28492532 10049870 CV191062 NM_015102.5(NPHP4):c.1319C>T (p.Ser440Leu) variant DOID:12712 nephronophthisis IAGP D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:25741868|PMID:28492532 10049870 CV191062 NM_015102.5(NPHP4):c.1319C>T (p.Ser440Leu) variant DOID:9000511 Senior-Loken Syndrome 4 IAGP D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 4 PMID:25741868|PMID:28492532 10049873 CV191068 NM_017777.4(MKS1):c.994G>A (p.Val332Ile) variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:25741868|PMID:28492532 10049873 CV191068 NM_017777.4(MKS1):c.994G>A (p.Val332Ile) variant DOID:0050778 Meckel syndrome IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:25741868|PMID:28492532 10049873 CV191068 NM_017777.4(MKS1):c.994G>A (p.Val332Ile) variant DOID:0070115 Meckel syndrome 1 IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 1 PMID:25741868|PMID:28492532 10049873 CV191068 NM_017777.4(MKS1):c.994G>A (p.Val332Ile) variant DOID:0110135 Bardet-Biedl syndrome 13 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 13 PMID:25741868|PMID:28492532 10049873 CV191068 NM_017777.4(MKS1):c.994G>A (p.Val332Ile) variant DOID:0110980 Joubert syndrome 1 IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:25741868|PMID:28492532 10049873 CV191068 NM_017777.4(MKS1):c.994G>A (p.Val332Ile) variant DOID:0110997 Joubert Syndrome 28 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Joubert syndrome 28 PMID:25741868|PMID:28492532 10049874 CV191069 NM_152564.5(VPS13B):c.1559A>G (p.His520Arg) variant DOID:0111590 Cohen syndrome IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:25741868|PMID:28492532 10049874 CV191069 NM_152564.5(VPS13B):c.1559A>G (p.His520Arg) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10049874 CV191069 NM_152564.5(VPS13B):c.1559A>G (p.His520Arg) variant DOID:9001162 Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness PMID:25741868|PMID:28492532 10049875 CV191070 NM_152564.5(VPS13B):c.1440C>T (p.Phe480=) variant DOID:0111590 Cohen syndrome IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Pepper syndrome PMID:25741868|PMID:28492532 10049875 CV191070 NM_152564.5(VPS13B):c.1440C>T (p.Phe480=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10049875 CV191070 NM_152564.5(VPS13B):c.1440C>T (p.Phe480=) variant DOID:9001162 Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness PMID:25741868|PMID:28492532 10049876 CV191071 NM_152564.5(VPS13B):c.1528C>T (p.Arg510Cys) variant DOID:0111590 Cohen syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: VPS13B-related condition PMID:24123366|PMID:26193622|PMID:28492532 10049876 CV191071 NM_152564.5(VPS13B):c.1528C>T (p.Arg510Cys) variant DOID:630 genetic disease IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24123366|PMID:26193622|PMID:28492532 10049876 CV191071 NM_152564.5(VPS13B):c.1528C>T (p.Arg510Cys) variant DOID:9001162 Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness PMID:24123366|PMID:26193622|PMID:28492532 10049878 CV191073 NM_018006.5(TRMU):c.1135G>T (p.Gly379Cys) variant DOID:0080778 transient infantile liver failure IAGP D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: LIVER FAILURE, INFANTILE, TRANSIENT PMID:25326635|PMID:25741868|PMID:28973083 10049878 CV191073 NM_018006.5(TRMU):c.1135G>T (p.Gly379Cys) variant DOID:630 genetic disease IAGP D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25326635|PMID:25741868|PMID:28973083 10049879 CV191075 NM_001378120.1(MBD5):c.3602C>T (p.Ser1201Leu) variant DOID:0070031 autosomal dominant intellectual developmental disorder 1 IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 1 PMID:25741868|PMID:28492532 10049880 CV191076 NM_020166.5(MCCC1):c.1114C>T (p.Gln372Ter) variant DOID:0050710 3-methylcrotonyl-CoA carboxylase deficiency IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Methylcrotonyl-CoA carboxylase deficiency PMID:11181649|PMID:15359379|PMID:22642865|PMID:25741868|PMID:28492532 10049880 CV191076 NM_020166.5(MCCC1):c.1114C>T (p.Gln372Ter) variant DOID:0080579 3-methylcrotonyl-CoA carboxylase 1 deficiency IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: 3 Methylcrotonyl-CoA carboxylase 1 deficiency PMID:11181649|PMID:15359379|PMID:22642865|PMID:25741868|PMID:28492532 10049882 CV191079 NM_020451.3(SELENON):c.1428G>A (p.Ser476=) variant DOID:0110633 rigid spine muscular dystrophy 1 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy PMID:28492532 10049883 CV191081 NM_020686.6(ABAT):c.678G>A (p.Ala226=) variant DOID:0060174 GABA aminotransferase deficiency IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiency PMID:28492532 10049885 CV191084 NM_020822.3(KCNT1):c.942C>T (p.Thr314=) variant DOID:0080439 developmental and epileptic encephalopathy 14 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:26467025|PMID:28492532 10049885 CV191084 NM_020822.3(KCNT1):c.942C>T (p.Thr314=) variant DOID:630 genetic disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532 10049886 CV191085 NM_020822.3(KCNT1):c.889G>A (p.Glu297Lys) variant DOID:0080439 developmental and epileptic encephalopathy 14 IAGP D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:25741868|PMID:28492532 10049886 CV191085 NM_020822.3(KCNT1):c.889G>A (p.Glu297Lys) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10049887 CV191086 NM_020822.3(KCNT1):c.885G>A (p.Ala295=) variant DOID:0080439 developmental and epileptic encephalopathy 14 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:26467025|PMID:28492532 10049887 CV191086 NM_020822.3(KCNT1):c.885G>A (p.Ala295=) variant DOID:630 genetic disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532 10049888 CV191089 NM_022089.4(ATP13A2):c.993C>T (p.Ala331=) variant DOID:0060556 Kufor-Rakeb syndrome IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Kufor-Rakeb syndrome PMID:28492532 10049889 CV191091 NM_001384732.1(CPLANE1):c.1456G>A (p.Asp486Asn) variant DOID:0110986 Joubert Syndrome 17 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Joubert syndrome 17 PMID:28492532 10049890 CV191093 NM_024577.4(SH3TC2):c.1862G>A (p.Arg621His) variant DOID:0050541 Charcot-Marie-Tooth disease type 4 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:25614874|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28518168|PMID:32376792|PMID:32461654 10049890 CV191093 NM_024577.4(SH3TC2):c.1862G>A (p.Arg621His) variant DOID:0110183 Charcot-Marie-Tooth disease type 4C IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4C PMID:25614874|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28518168|PMID:32376792|PMID:32461654 10049890 CV191093 NM_024577.4(SH3TC2):c.1862G>A (p.Arg621His) variant DOID:10595 Charcot-Marie-Tooth disease IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:25614874|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28518168|PMID:32376792|PMID:32461654 10049890 CV191093 NM_024577.4(SH3TC2):c.1862G>A (p.Arg621His) variant DOID:630 genetic disease IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25614874|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28518168|PMID:32376792|PMID:32461654 10049890 CV191093 NM_024577.4(SH3TC2):c.1862G>A (p.Arg621His) variant DOID:9005946 Mononeuropathy of the Median Nerve, Mild IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: SH3TC2-related condition PMID:25614874|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28518168|PMID:32376792|PMID:32461654 10049891 CV191095 NM_024596.5(MCPH1):c.2077C>T (p.Arg693Cys) variant DOID:0070285 primary autosomal recessive microcephaly 1 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Microcephaly 1, primary, autosomal recessive PMID:22139841|PMID:22908299|PMID:25741868|PMID:28492532 10049892 CV191096 NM_024753.5(TTC21B):c.1358T>A (p.Met453Lys) variant DOID:0050592 asphyxiating thoracic dystrophy IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:28492532 10049892 CV191096 NM_024753.5(TTC21B):c.1358T>A (p.Met453Lys) variant DOID:630 genetic disease IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10049894 CV191098 NM_031433.4(MFRP):c.1256-4G>A variant DOID:0060837 isolated microphthalmia 5 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen PMID:28492532 10049896 CV191100 NM_032119.4(ADGRV1):c.2233C>G (p.Leu745Val) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10049897 CV191101 NM_001122955.4(BSCL2):c.1367G>A (p.Arg456His) variant DOID:0050539 Charcot-Marie-Tooth disease type 2 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18690553|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31824185|PMID:35351089 10049897 CV191101 NM_001122955.4(BSCL2):c.1367G>A (p.Arg456His) variant DOID:0111136 congenital generalized lipodystrophy type 2 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Congenital generalized lipodystrophy type 2 PMID:18690553|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31824185|PMID:35351089 10049897 CV191101 NM_001122955.4(BSCL2):c.1367G>A (p.Arg456His) variant DOID:2476 hereditary spastic paraplegia IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:18690553|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31824185|PMID:35351089 10049897 CV191101 NM_001122955.4(BSCL2):c.1367G>A (p.Arg456His) variant DOID:630 genetic disease IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18690553|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31824185|PMID:35351089 10049897 CV191101 NM_001122955.4(BSCL2):c.1367G>A (p.Arg456His) variant DOID:9351 diabetes mellitus IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:18690553|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31824185|PMID:35351089 10049899 CV191103 NM_006950.3(SYN1):c.1325T>C (p.Leu442Pro) variant DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Epilepsy, X-linked, with variable learning disabilities and behavior disorders PMID:28492532 10049899 CV191103 NM_006950.3(SYN1):c.1325T>C (p.Leu442Pro) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10049901 CV191108 NM_153704.6(TMEM67):c.1078A>G (p.Thr360Ala) variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:25412400|PMID:25741868|PMID:28492532|PMID:34964473 10049901 CV191108 NM_153704.6(TMEM67):c.1078A>G (p.Thr360Ala) variant DOID:0050778 Meckel syndrome IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:25412400|PMID:25741868|PMID:28492532|PMID:34964473 10049901 CV191108 NM_153704.6(TMEM67):c.1078A>G (p.Thr360Ala) variant DOID:0070115 Meckel syndrome 1 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Dysencephalia splachnocystica PMID:25412400|PMID:25741868|PMID:28492532|PMID:34964473 10049901 CV191108 NM_153704.6(TMEM67):c.1078A>G (p.Thr360Ala) variant DOID:0110980 Joubert syndrome 1 IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Joubert syndrome 1 PMID:25412400|PMID:25741868|PMID:28492532|PMID:34964473 10049903 CV191110 NM_194318.4(B3GLCT):c.932C>T (p.Thr311Ile) variant DOID:0080201 Peters plus syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Peters plus syndrome PMID:28492532 10049904 CV191112 NM_198525.3(KIF7):c.2236C>T (p.Arg746Trp) variant DOID:9003677 Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Macrocephaly with multiple epiphyseal dysplasia and distinctive facies PMID:25741868|PMID:28492532 10049904 CV191112 NM_198525.3(KIF7):c.2236C>T (p.Arg746Trp) variant DOID:9250 acrocallosal syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Schinzel syndrome 1 PMID:25741868|PMID:28492532 10049907 CV191116 NM_182914.3(SYNE2):c.20011G>A (p.Ala6671Thr) variant DOID:0070250 autosomal dominant Emery-Dreifuss muscular dystrophy 5 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 5, autosomal dominant PMID:25741868|PMID:28492532 10049908 CV191117 NM_182914.3(SYNE2):c.20158C>T (p.Arg6720Trp) variant DOID:0070250 autosomal dominant Emery-Dreifuss muscular dystrophy 5 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 5, autosomal dominant PMID:25741868|PMID:28492532 10049909 CV191120 NM_182914.3(SYNE2):c.20542C>T (p.Arg6848Cys) variant DOID:0070250 autosomal dominant Emery-Dreifuss muscular dystrophy 5 IAGP D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 5, autosomal dominant PMID:28492532 10049911 CV191122 NM_001164508.2(NEB):c.21566A>T (p.Tyr7189Phe) variant DOID:0110928 nemaline myopathy 2 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 2 PMID:28492532 10049912 CV191123 NM_182961.4(SYNE1):c.21819C>T (p.Asp7273=) variant DOID:0111618 autosomal recessive spinocerebellar ataxia 8 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type PMID:28492532 10049913 CV191124 NM_001164508.2(NEB):c.21685G>C (p.Asp7229His) variant DOID:0070336 arthrogryposis multiplex congenita-6 IAGP D RGD:8554872 20250821 ClinVar ClinVar Annotator: match by term: NEB-related disorder PMID:15336686|PMID:16917880|PMID:25741868|PMID:28492532|PMID:29961767|PMID:30467404|PMID:34426522|PMID:34440373 10049913 CV191124 NM_001164508.2(NEB):c.21685G>C (p.Asp7229His) variant DOID:0110928 nemaline myopathy 2 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 2 PMID:15336686|PMID:16917880|PMID:25741868|PMID:28492532|PMID:29961767|PMID:30467404|PMID:34426522|PMID:34440373 10049914 CV191125 NM_001267550.2(TTN):c.31807G>A (p.Val10603Ile) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20201015 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 10049914 CV191125 NM_001267550.2(TTN):c.31807G>A (p.Val10603Ile) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10 PMID:24033266|PMID:25741868|PMID:28492532 10049914 CV191125 NM_001267550.2(TTN):c.31807G>A (p.Val10603Ile) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20201015 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:24033266|PMID:25741868|PMID:28492532 10049915 CV191126 NM_001267550.2(TTN):c.31846+1G>A variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:23975875|PMID:25589632|PMID:25741868|PMID:27869827|PMID:28492532|PMID:30827497|PMID:32964742|PMID:37393749 10049915 CV191126 NM_001267550.2(TTN):c.31846+1G>A variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23975875|PMID:25589632|PMID:25741868|PMID:27869827|PMID:28492532|PMID:30827497|PMID:32964742|PMID:37393749 10049917 CV191129 NM_000026.4(ADSL):c.1207A>C (p.Ile403Leu) variant DOID:0050762 adenylosuccinase lyase deficiency IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:25741868|PMID:28492532 10049918 CV191130 NM_000048.4(ASL):c.837G>C (p.Thr279=) variant DOID:14755 argininosuccinic aciduria IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Argininosuccinate lyase deficiency PMID:28492532 10049919 CV191134 NM_000071.3(CBS):c.1072G>A (p.Val358Met) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10049919 CV191134 NM_000071.3(CBS):c.1072G>A (p.Val358Met) variant DOID:9263 homocystinuria IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Cystathionine beta-synthase deficiency PMID:25741868|PMID:28492532 10049920 CV191135 NM_000080.4(CHRNE):c.*6A>G variant DOID:3635 congenital myasthenic syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Dominant/Recessive PMID:25741868 10049921 CV191136 NM_001114753.3(ENG):c.1572C>T (p.Pro524=) variant DOID:1270 hereditary hemorrhagic telangiectasia IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia PMID:28492532 10049922 CV191137 NM_000142.5(FGFR3):c.1550A>G (p.Lys517Arg) variant DOID:630 genetic disease IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10049923 CV191138 NM_000152.5(GAA):c.1722C>T (p.Leu574=) variant DOID:2752 glycogen storage disease II IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type II PMID:25741868|PMID:28492532 10049923 CV191138 NM_000152.5(GAA):c.1722C>T (p.Leu574=) variant DOID:9001828 Cardiac Form of Generalized Glycogenosis IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Cardiomegalia glycogenica diffusa PMID:25741868|PMID:28492532 10049925 CV191143 NM_000256.3(MYBPC3):c.1090G>C (p.Ala364Pro) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:17576681|PMID:20513729|PMID:21302287|PMID:25740977|PMID:28492532|PMID:30645170|PMID:34556856|PMID:9536098 10049926 CV191145 NM_000271.5(NPC1):c.1947+8dup variant DOID:0070113 Niemann-Pick disease type C1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C1 PMID:28492532 10049927 CV191147 NM_000275.3(OCA2):c.1183A>C (p.Met395Leu) variant DOID:0070096 oculocutaneous albinism type II IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tyrosinase-positive oculocutaneous albinism PMID:20019752|PMID:25741868|PMID:28492532|PMID:7874125 10049928 CV191148 NM_000275.3(OCA2):c.1239+5G>C variant DOID:0050632 oculocutaneous albinism IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Oculocutaneous albinism PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 10049928 CV191148 NM_000275.3(OCA2):c.1239+5G>C variant DOID:0070096 oculocutaneous albinism type II IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tyrosinase-positive oculocutaneous albinism PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 10049928 CV191148 NM_000275.3(OCA2):c.1239+5G>C variant DOID:9000752 Skin/Hair/Eye Pigmentation, Variation In, 1 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 10049929 CV191150 NM_000275.3(OCA2):c.1226A>G (p.Tyr409Cys) variant DOID:630 genetic disease IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10049931 CV191153 NM_000350.3(ABCA4):c.1654G>A (p.Val552Ile) variant DOID:0050572 cone-rod dystrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive PMID:10958763|PMID:18024811|PMID:19028736|PMID:22229821|PMID:24265693|PMID:25741868|PMID:26593885|PMID:26720470|PMID:28118664|PMID:28492532|PMID:28559085|PMID:29555955|PMID:29847635|PMID:29925512|PMID:30718709|PMID:31429209|PMID:32307445|PMID:33706644 10049931 CV191153 NM_000350.3(ABCA4):c.1654G>A (p.Val552Ile) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive PMID:10958763|PMID:18024811|PMID:19028736|PMID:22229821|PMID:24265693|PMID:25741868|PMID:26593885|PMID:26720470|PMID:28118664|PMID:28492532|PMID:28559085|PMID:29555955|PMID:29847635|PMID:29925512|PMID:30718709|PMID:31429209|PMID:32307445|PMID:33706644 10049931 CV191153 NM_000350.3(ABCA4):c.1654G>A (p.Val552Ile) variant DOID:4448 macular degeneration IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Macular degeneration PMID:10958763|PMID:18024811|PMID:19028736|PMID:22229821|PMID:24265693|PMID:25741868|PMID:26593885|PMID:26720470|PMID:28118664|PMID:28492532|PMID:28559085|PMID:29555955|PMID:29847635|PMID:29925512|PMID:30718709|PMID:31429209|PMID:32307445|PMID:33706644 10049931 CV191153 NM_000350.3(ABCA4):c.1654G>A (p.Val552Ile) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:10958763|PMID:18024811|PMID:19028736|PMID:22229821|PMID:24265693|PMID:25741868|PMID:26593885|PMID:26720470|PMID:28118664|PMID:28492532|PMID:28559085|PMID:29555955|PMID:29847635|PMID:29925512|PMID:30718709|PMID:31429209|PMID:32307445|PMID:33706644 10049931 CV191153 NM_000350.3(ABCA4):c.1654G>A (p.Val552Ile) variant DOID:9006630 Stargardt Disease 1 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Stargardt Disease, Recessive PMID:10958763|PMID:18024811|PMID:19028736|PMID:22229821|PMID:24265693|PMID:25741868|PMID:26593885|PMID:26720470|PMID:28118664|PMID:28492532|PMID:28559085|PMID:29555955|PMID:29847635|PMID:29925512|PMID:30718709|PMID:31429209|PMID:32307445|PMID:33706644 10049932 CV191155 NM_000426.4(LAMA2):c.1782+10C>T variant DOID:0110636 congenital merosin-deficient muscular dystrophy 1A IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Laminin alpha 2-related dystrophy PMID:28492532 10049932 CV191155 NM_000426.4(LAMA2):c.1782+10C>T variant DOID:9007352 Congenital Muscular Dystrophy due to Partial LAMA2 Deficiency IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy due to partial LAMA2 deficiency PMID:28492532 10049933 CV191156 NM_201384.3(PLEC):c.1050G>A (p.Val350=) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy PMID:28492532 10049934 CV191157 NM_201384.3(PLEC):c.1158C>G (p.Ser386Arg) variant DOID:0060736 epidermolysis bullosa simplex Ogna type IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Ogna type PMID:24033266|PMID:25741868|PMID:28492532 10049934 CV191157 NM_201384.3(PLEC):c.1158C>G (p.Ser386Arg) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy PMID:24033266|PMID:25741868|PMID:28492532 10049934 CV191157 NM_201384.3(PLEC):c.1158C>G (p.Ser386Arg) variant DOID:0110285 autosomal recessive limb-girdle muscular dystrophy type 2Q IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2Q PMID:24033266|PMID:25741868|PMID:28492532 10049934 CV191157 NM_201384.3(PLEC):c.1158C>G (p.Ser386Arg) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 10049934 CV191157 NM_201384.3(PLEC):c.1158C>G (p.Ser386Arg) variant DOID:9001254 Epidermolysis Bullosa Simplex 5D with Nail Dystrophy IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy PMID:24033266|PMID:25741868|PMID:28492532 10049934 CV191157 NM_201384.3(PLEC):c.1158C>G (p.Ser386Arg) variant DOID:9003881 Epidermolysis Bullosa Simplex 5C with Pyloric Atresia IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with pyloric atresia PMID:24033266|PMID:25741868|PMID:28492532 10049935 CV191160 NM_000489.6(ATRX):c.4120+4A>C variant DOID:0110030 alpha thalassemia-X-linked intellectual disability syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Alpha thalassemia-X-linked intellectual disability syndrome PMID:25741868|PMID:28492532 10049935 CV191160 NM_000489.6(ATRX):c.4120+4A>C variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10049937 CV191164 NM_000535.7(PMS2):c.2127C>T (p.Phe709=) variant DOID:0070275 hereditary nonpolyposis colorectal cancer type 4 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Lynch syndrome 4 PMID:25741868|PMID:28492532 10049937 CV191164 NM_000535.7(PMS2):c.2127C>T (p.Phe709=) variant DOID:3883 Lynch syndrome IAGP D RGD:8554872 20201027 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:25741868|PMID:28492532 10049937 CV191164 NM_000535.7(PMS2):c.2127C>T (p.Phe709=) variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer PMID:25741868|PMID:28492532 10049937 CV191164 NM_000535.7(PMS2):c.2127C>T (p.Phe709=) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20181009 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532 10049938 CV191165 NM_000540.3(RYR1):c.1172G>A (p.Arg391His) variant DOID:0080102 congenital myopathy 4A IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion PMID:25214167|PMID:25741868|PMID:28492532 10049938 CV191165 NM_000540.3(RYR1):c.1172G>A (p.Arg391His) variant DOID:0080990 King Denborough syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: King syndrome PMID:25214167|PMID:25741868|PMID:28492532 10049938 CV191165 NM_000540.3(RYR1):c.1172G>A (p.Arg391His) variant DOID:0080991 congenital myopathy 1B IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Minicore myopathy PMID:25214167|PMID:25741868|PMID:28492532 10049938 CV191165 NM_000540.3(RYR1):c.1172G>A (p.Arg391His) variant DOID:3529 congenital myopathy 1A IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Shy-Magee syndrome PMID:25214167|PMID:25741868|PMID:28492532 10049938 CV191165 NM_000540.3(RYR1):c.1172G>A (p.Arg391His) variant DOID:422 congenital structural myopathy IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy PMID:25214167|PMID:25741868|PMID:28492532 10049938 CV191165 NM_000540.3(RYR1):c.1172G>A (p.Arg391His) variant DOID:8545 malignant hyperthermia IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Malignant hyperpyrexia PMID:25214167|PMID:25741868|PMID:28492532 10049938 CV191165 NM_000540.3(RYR1):c.1172G>A (p.Arg391His) variant DOID:9005320 Malignant Fever IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Pharmacogenic myopathy PMID:25214167|PMID:25741868|PMID:28492532 10049940 CV191169 NM_000751.3(CHRND):c.1400G>A (p.Arg467His) variant DOID:3635 congenital myasthenic syndrome IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome PMID:25741868|PMID:28492532 10049940 CV191169 NM_000751.3(CHRND):c.1400G>A (p.Arg467His) variant DOID:9005962 Multiple Pterygium Syndrome, Lethal Type IAGP D RGD:8554872 20180828 ClinVar ClinVar Annotator: match by term: Lethal multiple pterygium syndrome PMID:25741868|PMID:28492532 10049941 CV191170 NM_000883.4(IMPDH1):c.1173A>G (p.Thr391=) variant DOID:0110388 retinitis pigmentosa 10 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: IMPDH1-related condition PMID:28492532 10049942 CV191172 NM_001015880.2(PAPSS2):c.1607A>G (p.His536Arg) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10049944 CV191176 NM_001025389.2(AMPD3):c.1824C>T (p.His608=) variant DOID:9006043 Erythrocyte Amp Deaminase Deficiency IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Erythrocyte AMP deaminase deficiency 10049945 CV191177 NM_001039348.3(EFEMP1):c.1413C>T (p.Ser471=) variant DOID:0060745 Doyne honeycomb retinal dystrophy IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Doyne honeycomb retinal dystrophy PMID:28492532 10049947 CV191179 NM_001042472.3(ABHD12):c.1113G>A (p.Arg371=) variant DOID:0080181 PHARC syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: ABHD12-related condition PMID:26467025|PMID:28492532 10049948 CV191181 NM_001378615.1(CC2D2A):c.1116C>A (p.Ser372Arg) variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 10049948 CV191181 NM_001378615.1(CC2D2A):c.1116C>A (p.Ser372Arg) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10049949 CV191182 NM_001082538.3(TCTN1):c.1471A>T (p.Ile491Phe) variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:25741868|PMID:28492532 10049949 CV191182 NM_001082538.3(TCTN1):c.1471A>T (p.Ile491Phe) variant DOID:0110982 Joubert syndrome 13 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Joubert syndrome 13 PMID:25741868|PMID:28492532 10049950 CV191183 NM_001082538.3(TCTN1):c.1410C>T (p.Tyr470=) variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:25741868|PMID:28492532 10049952 CV191187 NM_000245.4(MET):c.2584-7del variant DOID:0050563 nonsyndromic deafness IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Non-syndromic genetic deafness PMID:25741868|PMID:28492532 10049952 CV191187 NM_000245.4(MET):c.2584-7del variant DOID:4450 renal cell carcinoma IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma PMID:25741868|PMID:28492532 10049952 CV191187 NM_000245.4(MET):c.2584-7del variant DOID:9006972 Renal Cell Carcinoma 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:25741868|PMID:28492532 10049952 CV191187 NM_000245.4(MET):c.2584-7del variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532 10049953 CV191188 NM_005476.7(GNE):c.2086G>T (p.Val696Leu) variant DOID:0080718 GNE myopathy IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inclusion body myopathy 2 PMID:11528398|PMID:12497639|PMID:20175955|PMID:21708040|PMID:24005727|PMID:24796702|PMID:25182749|PMID:25741868|PMID:28492532 10049953 CV191188 NM_005476.7(GNE):c.2086G>T (p.Val696Leu) variant DOID:0081363 distal myopathy with rimmed vacuoles IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: MYOPATHY, DISTAL, WITH OR WITHOUT RIMMED VACUOLES PMID:11528398|PMID:12497639|PMID:20175955|PMID:21708040|PMID:24005727|PMID:24796702|PMID:25182749|PMID:25741868|PMID:28492532 10049953 CV191188 NM_005476.7(GNE):c.2086G>T (p.Val696Leu) variant DOID:3659 sialuria IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Sialuria PMID:11528398|PMID:12497639|PMID:20175955|PMID:21708040|PMID:24005727|PMID:24796702|PMID:25182749|PMID:25741868|PMID:28492532 10049953 CV191188 NM_005476.7(GNE):c.2086G>T (p.Val696Leu) variant DOID:9001727 French Type Sialuria IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Sialuria, French type PMID:11528398|PMID:12497639|PMID:20175955|PMID:21708040|PMID:24005727|PMID:24796702|PMID:25182749|PMID:25741868|PMID:28492532 10049954 CV191190 NM_001134363.3(RBM20):c.3331G>T (p.Val1111Leu) variant DOID:0110447 dilated cardiomyopathy 1DD IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1DD PMID:28492532 10049955 CV191191 NM_001330078.2(NRXN1):c.2332C>A (p.Leu778Met) variant DOID:0111332 Pitt-Hopkins-like syndrome 2 IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 PMID:28492532 10049958 CV191195 NM_001165963.4(SCN1A):c.2044-5dup variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 10049959 CV191198 NM_001369.3(DNAH5):c.1585C>T (p.Arg529Trp) variant DOID:9562 primary ciliary dyskinesia IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 10049960 CV191200 NM_001110556.2(FLNA):c.1812C>T (p.Asp604=) variant DOID:0050454 periventricular nodular heterotopia IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Periventricular nodular heterotopia 1 PMID:28492532 10049960 CV191200 NM_001110556.2(FLNA):c.1812C>T (p.Asp604=) variant DOID:0111784 otopalatodigital syndrome type 2 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II PMID:28492532 10049960 CV191200 NM_001110556.2(FLNA):c.1812C>T (p.Asp604=) variant DOID:0111785 frontometaphyseal dysplasia IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Frontometaphyseal dysplasia PMID:28492532 10049960 CV191200 NM_001110556.2(FLNA):c.1812C>T (p.Asp604=) variant DOID:0111788 Melnick-Needles syndrome IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles PMID:28492532 10049960 CV191200 NM_001110556.2(FLNA):c.1812C>T (p.Asp604=) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:28492532 10049960 CV191200 NM_001110556.2(FLNA):c.1812C>T (p.Asp604=) variant DOID:9005082 Periventricular Nodular Heterotopia 4 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant PMID:28492532 10049961 CV191202 NM_001848.3(COL6A1):c.956A>G (p.Lys319Arg) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:17785673|PMID:28492532|PMID:28831785|PMID:34167565 10049962 CV191204 NM_001849.4(COL6A2):c.1070C>G (p.Pro357Arg) variant DOID:0050663 Bethlem myopathy IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Myopathy, benign congenital, with contractures PMID:28492532 10049962 CV191204 NM_001849.4(COL6A2):c.1070C>G (p.Pro357Arg) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:28492532 10049962 CV191204 NM_001849.4(COL6A2):c.1070C>G (p.Pro357Arg) variant DOID:9007626 Myosclerosis, Autosomal Recessive IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Myosclerosis PMID:28492532 10049965 CV191207 NM_002206.3(ITGA7):c.1722C>A (p.Ala574=) variant DOID:0110639 congenital muscular dystrophy due to integrin alpha-7 deficiency IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, congenital, due to integrin alpha-7 deficiency PMID:28492532 10049966 CV191208 NM_002206.3(ITGA7):c.1568-9A>G variant DOID:0110639 congenital muscular dystrophy due to integrin alpha-7 deficiency IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, congenital, due to integrin alpha-7 deficiency PMID:28492532 10049967 CV191209 NM_002206.3(ITGA7):c.1606C>T (p.Leu536Phe) variant DOID:0110639 congenital muscular dystrophy due to integrin alpha-7 deficiency IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy due to integrin alpha-7 deficiency PMID:25741868|PMID:26467025|PMID:28492532 10049968 CV191213 NM_003680.4(YARS1):c.1464C>T (p.Phe488=) variant DOID:0110199 Charcot-Marie-Tooth disease dominant intermediate C IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C PMID:28492532 10049968 CV191213 NM_003680.4(YARS1):c.1464C>T (p.Phe488=) variant DOID:630 genetic disease IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10049969 CV191216 NM_004006.3(DMD):c.1463G>T (p.Arg488Leu) variant DOID:11723 Duchenne muscular dystrophy IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:28492532 10049970 CV191217 NM_004369.4(COL6A3):c.5501-4C>G variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:28492532 10049971 CV191218 NM_004369.4(COL6A3):c.5712C>T (p.Asp1904=) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:28492532 10049972 CV191219 NM_004369.4(COL6A3):c.5684C>T (p.Ser1895Leu) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:28492532 10049973 CV191220 NM_004453.4(ETFDH):c.1531G>A (p.Asp511Asn) variant DOID:0060358 multiple acyl-CoA dehydrogenase deficiency IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency PMID:19758981|PMID:21907580|PMID:23628458|PMID:24522293|PMID:25741868|PMID:28456887|PMID:28492532|PMID:31997039|PMID:32793418|PMID:35309592 10049974 CV191222 NM_004530.6(MMP2):c.1858G>A (p.Val620Ile) variant DOID:9006569 Osteolysis Hereditary Multicentric IAGP D RGD:8554872 20250729 ClinVar ClinVar Annotator: match by term: Multicentric osteolysis nodulosis arthropathy spectrum PMID:28492532 10049975 CV191223 NM_133642.5(LARGE1):c.1349G>A (p.Arg450His) variant DOID:0110637 muscular dystrophy-dystroglycanopathy type B6 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 PMID:25741868|PMID:28492532 10049976 CV191225 NM_005045.4(RELN):c.1386C>T (p.Cys462=) variant DOID:0060902 Norman-Roberts syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Norman-Roberts syndrome PMID:25741868|PMID:28492532 10049977 CV191229 NM_005334.3(HCFC1):c.2109G>A (p.Thr703=) variant DOID:0111814 methylmalonic acidemia and homocysteinemia cblX type IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Mental retardation 3, X-linked PMID:25741868|PMID:28492532 10049978 CV191230 NM_005881.4(BCKDK):c.1218G>A (p.Arg406=) variant DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:28492532 10049979 CV191231 NM_005881.4(BCKDK):c.1104C>T (p.Phe368=) variant DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:26467025|PMID:28492532 10049982 CV191234 NM_005957.5(MTHFR):c.1781G>A (p.Arg594Gln) variant DOID:9001648 Methylenetetrahydrofolate Reductase Deficiency IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency PMID:24033266|PMID:25741868|PMID:28492532 10049983 CV191235 NM_006017.3(PROM1):c.1345G>A (p.Val449Met) variant DOID:0070517 retinal macular dystrophy 2 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Retinal macular dystrophy type 2 PMID:25910913|PMID:28492532 10049983 CV191235 NM_006017.3(PROM1):c.1345G>A (p.Val449Met) variant DOID:0110376 retinitis pigmentosa 41 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 41 PMID:25910913|PMID:28492532 10049983 CV191235 NM_006017.3(PROM1):c.1345G>A (p.Val449Met) variant DOID:0111019 cone-rod dystrophy 12 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 12 PMID:25910913|PMID:28492532 10049983 CV191235 NM_006017.3(PROM1):c.1345G>A (p.Val449Met) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25910913|PMID:28492532 10049983 CV191235 NM_006017.3(PROM1):c.1345G>A (p.Val449Met) variant DOID:9000565 Stargardt Disease 4 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Stargardt disease 4 PMID:25910913|PMID:28492532 10049985 CV191237 NM_006059.4(LAMC3):c.2066C>T (p.Pro689Leu) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10049985 CV191237 NM_006059.4(LAMC3):c.2066C>T (p.Pro689Leu) variant DOID:9003313 Occipital Cortical Malformations IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Cortical malformations, occipital PMID:25741868|PMID:28492532 10049986 CV191240 NM_006642.5(SDCCAG8):c.1380G>C (p.Gln460His) variant DOID:0110138 Bardet-Biedl syndrome 16 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 16 PMID:28492532 10049986 CV191240 NM_006642.5(SDCCAG8):c.1380G>C (p.Gln460His) variant DOID:9004000 Senior-Loken Syndrome 7 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 7 PMID:28492532 10049987 CV191242 NM_006899.5(IDH3B):c.1072-4G>A variant DOID:0110409 retinitis pigmentosa 46 IAGP D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: IDH3B-related condition PMID:28492532 10049988 CV191243 NM_006922.4(SCN3A):c.1619C>T (p.Ser540Phe) variant DOID:0081424 familial focal epilepsy with variable foci 4 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: SCN3A-related condition PMID:25741868|PMID:28492532 10049988 CV191243 NM_006922.4(SCN3A):c.1619C>T (p.Ser540Phe) variant DOID:630 genetic disease IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10049989 CV191244 NM_007294.4(BRCA1):c.4251G>A (p.Val1417=) variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:16826315|PMID:26467025|PMID:28492532 10049989 CV191244 NM_007294.4(BRCA1):c.4251G>A (p.Val1417=) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:16826315|PMID:26467025|PMID:28492532 10049991 CV191246 NM_012144.4(DNAI1):c.1063+19C>T variant DOID:9562 primary ciliary dyskinesia IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 10049992 CV191247 NM_012301.4(MAGI2):c.2142G>A (p.Pro714=) variant DOID:0080271 nephrotic syndrome type 15 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: MAGI2-related condition PMID:26467025|PMID:28492532 10049993 CV191248 NM_012463.4(ATP6V0A2):c.1430A>T (p.Asn477Ile) variant DOID:0070134 autosomal recessive cutis laxa type IIA IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cutis laxa with osteodystrophy PMID:28492532 10049993 CV191248 NM_012463.4(ATP6V0A2):c.1430A>T (p.Asn477Ile) variant DOID:0080564 congenital disorder of glycosylation Il IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ALG9 congenital disorder of glycosylation PMID:28492532 10049993 CV191248 NM_012463.4(ATP6V0A2):c.1430A>T (p.Asn477Ile) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10049994 CV191250 NM_001330260.2(SCN8A):c.1677C>T (p.His559=) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 10049994 CV191250 NM_001330260.2(SCN8A):c.1677C>T (p.His559=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10049995 CV191251 NM_001330260.2(SCN8A):c.1819G>A (p.Ala607Thr) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 10049995 CV191251 NM_001330260.2(SCN8A):c.1819G>A (p.Ala607Thr) variant DOID:630 genetic disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10049997 CV191253 NM_014780.5(CUL7):c.2563A>G (p.Lys855Glu) variant DOID:9005349 Three M Syndrome 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: 3M syndrome 1 PMID:25741868|PMID:28492532 10049997 CV191253 NM_014780.5(CUL7):c.2563A>G (p.Lys855Glu) variant DOID:9007661 Dwarfism IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868|PMID:28492532 10050000 CV191257 NM_015404.4(WHRN):c.2644C>A (p.Arg882Ser) variant DOID:0110490 autosomal recessive nonsyndromic deafness 31 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: WHIRLER, MOUSE, HOMOLOG OF PMID:20352026|PMID:22277662|PMID:25741868|PMID:26969326|PMID:28492532|PMID:30245029 10050000 CV191257 NM_015404.4(WHRN):c.2644C>A (p.Arg882Ser) variant DOID:0110840 Usher syndrome type 2D IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2D PMID:20352026|PMID:22277662|PMID:25741868|PMID:26969326|PMID:28492532|PMID:30245029 10050000 CV191257 NM_015404.4(WHRN):c.2644C>A (p.Arg882Ser) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:20352026|PMID:22277662|PMID:25741868|PMID:26969326|PMID:28492532|PMID:30245029 10050002 CV191260 NM_015915.5(ATL1):c.1200G>A (p.Lys400=) variant DOID:0110791 hereditary spastic paraplegia 3A IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 3A PMID:28492532 10050002 CV191260 NM_015915.5(ATL1):c.1200G>A (p.Lys400=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10050003 CV191261 NM_016247.4(IMPG2):c.1243A>G (p.Asn415Asp) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532 10050003 CV191261 NM_016247.4(IMPG2):c.1243A>G (p.Asn415Asp) variant DOID:630 genetic disease IAGP D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10050005 CV191263 NM_001353214.3(DYM):c.1344A>G (p.Gln448=) variant DOID:0060247 Smith-McCort dysplasia IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Smith-McCort dysplasia PMID:28492532 10050005 CV191263 NM_001353214.3(DYM):c.1344A>G (p.Gln448=) variant DOID:0111167 Dyggve-Melchior-Clausen disease IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Dyggve-Melchior-Clausen syndrome PMID:28492532 10050006 CV191264 NM_001123385.2(BCOR):c.4724T>C (p.Met1575Thr) variant DOID:0111809 syndromic microphthalmia 2 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Oculofaciocardiodental syndrome PMID:28492532 10050006 CV191264 NM_001123385.2(BCOR):c.4724T>C (p.Met1575Thr) variant DOID:630 genetic disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10050009 CV191268 NM_001378120.1(MBD5):c.4475T>G (p.Ile1492Ser) variant DOID:0070031 autosomal dominant intellectual developmental disorder 1 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Mental retardation, autosomal dominant 1 PMID:28492532 10050010 CV191269 NM_018418.5(SPATA7):c.1428G>A (p.Ser476=) variant DOID:0110331 Leber congenital amaurosis 3 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 3 10050010 CV191269 NM_018418.5(SPATA7):c.1428G>A (p.Ser476=) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive 10050011 CV191271 NM_020549.5(CHAT):c.1771G>A (p.Val591Met) variant DOID:0110671 congenital myasthenic syndrome 6 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial infantile myasthenia PMID:25741868|PMID:28492532 10050011 CV191271 NM_020549.5(CHAT):c.1771G>A (p.Val591Met) variant DOID:630 genetic disease IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10050012 CV191273 NM_020754.4(ARHGAP31):c.2412G>A (p.Pro804=) variant DOID:9004220 Adams-Oliver Syndrome 1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: ARHGAP31-related condition 10050014 CV191281 NM_023036.6(DNAI2):c.1615G>A (p.Val539Ile) variant DOID:9562 primary ciliary dyskinesia IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:25741868|PMID:28492532 10050015 CV191282 NM_023036.6(DNAI2):c.1619A>T (p.Asp540Val) variant DOID:9562 primary ciliary dyskinesia IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 10050016 CV191284 NM_023110.3(FGFR1):c.1663+9C>T variant DOID:0090083 hypogonadotropic hypogonadism 2 with or without anosmia IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia PMID:28492532 10050017 CV191285 NM_024596.5(MCPH1):c.2180C>T (p.Pro727Leu) variant DOID:0070285 primary autosomal recessive microcephaly 1 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary autosomal recessive microcephaly 1 PMID:25741868|PMID:26467025|PMID:28492532|PMID:32714618 10050017 CV191285 NM_024596.5(MCPH1):c.2180C>T (p.Pro727Leu) variant DOID:630 genetic disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532|PMID:32714618 10050017 CV191285 NM_024596.5(MCPH1):c.2180C>T (p.Pro727Leu) variant DOID:9007661 Dwarfism IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature PMID:25741868|PMID:26467025|PMID:28492532|PMID:32714618 10050018 CV191286 NM_031407.7(HUWE1):c.811A>G (p.Arg271Gly) variant DOID:0050776 non-syndromic X-linked intellectual disability IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability PMID:25741868 10050019 CV191288 NM_182961.4(SYNE1):c.976T>C (p.Trp326Arg) variant DOID:0111618 autosomal recessive spinocerebellar ataxia 8 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type PMID:25741868|PMID:26467025|PMID:27302369|PMID:28492532|PMID:32019516 10050020 CV191290 NM_133433.4(NIPBL):c.3481C>T (p.Pro1161Ser) variant DOID:0080505 Cornelia de Lange syndrome 1 IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 PMID:25741868|PMID:28492532 10050022 CV191292 NM_006950.3(SYN1):c.1615G>A (p.Gly539Ser) variant DOID:0112122 X-linked epilepsy with variable learning disabilities and behavior disorders IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Epilepsy, X-linked, with variable learning disabilities and behavior disorders PMID:26467025|PMID:28492532 10050022 CV191292 NM_006950.3(SYN1):c.1615G>A (p.Gly539Ser) variant DOID:630 genetic disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532 10050024 CV191294 NM_144573.4(NEXN):c.1653A>G (p.Leu551=) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10050024 CV191294 NM_144573.4(NEXN):c.1653A>G (p.Leu551=) variant DOID:0110326 hypertrophic cardiomyopathy 20 IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 20 PMID:25741868|PMID:28492532 10050024 CV191294 NM_144573.4(NEXN):c.1653A>G (p.Leu551=) variant DOID:0110424 dilated cardiomyopathy 1CC IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1CC PMID:25741868|PMID:28492532 10050027 CV191298 NM_172107.4(KCNQ2):c.1301+8G>T variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 10050028 CV191299 NM_178335.3(CCDC50):c.1430-9C>G variant DOID:0110569 autosomal dominant nonsyndromic deafness 44 IAGP D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: CCDC50-related condition 10050030 CV191302 NM_198525.3(KIF7):c.2586C>T (p.Arg862=) variant DOID:9250 acrocallosal syndrome IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Acrocallosal syndrome PMID:28492532 10050031 CV191304 NM_001164508.2(NEB):c.21751C>G (p.Gln7251Glu) variant DOID:0110928 nemaline myopathy 2 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 2 PMID:28492532 10050031 CV191304 NM_001164508.2(NEB):c.21751C>G (p.Gln7251Glu) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10050032 CV191306 NM_001267550.2(TTN):c.32090C>T (p.Pro10697Leu) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:25741868 10050033 CV191307 NM_001164508.2(NEB):c.22110A>G (p.Pro7370=) variant DOID:0110928 nemaline myopathy 2 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 2 PMID:28492532 10050035 CV191309 NM_001267550.2(TTN):c.32471-1G>A variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Salih Myopathy PMID:23975875|PMID:24503780|PMID:25589632|PMID:25741868|PMID:27854218|PMID:27869827|PMID:28492532|PMID:31216868|PMID:32964742|PMID:35177841|PMID:36264615|PMID:36937954 10050035 CV191309 NM_001267550.2(TTN):c.32471-1G>A variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:23975875|PMID:24503780|PMID:25589632|PMID:25741868|PMID:27854218|PMID:27869827|PMID:28492532|PMID:31216868|PMID:32964742|PMID:35177841|PMID:36264615|PMID:36937954 10050035 CV191309 NM_001267550.2(TTN):c.32471-1G>A variant DOID:0110315 hypertrophic cardiomyopathy 9 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 9 PMID:23975875|PMID:24503780|PMID:25589632|PMID:25741868|PMID:27854218|PMID:27869827|PMID:28492532|PMID:31216868|PMID:32964742|PMID:35177841|PMID:36264615|PMID:36937954 10050035 CV191309 NM_001267550.2(TTN):c.32471-1G>A variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23975875|PMID:24503780|PMID:25589632|PMID:25741868|PMID:27854218|PMID:27869827|PMID:28492532|PMID:31216868|PMID:32964742|PMID:35177841|PMID:36264615|PMID:36937954 10050035 CV191309 NM_001267550.2(TTN):c.32471-1G>A variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:23975875|PMID:24503780|PMID:25589632|PMID:25741868|PMID:27854218|PMID:27869827|PMID:28492532|PMID:31216868|PMID:32964742|PMID:35177841|PMID:36264615|PMID:36937954 10050035 CV191309 NM_001267550.2(TTN):c.32471-1G>A variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant PMID:23975875|PMID:24503780|PMID:25589632|PMID:25741868|PMID:27854218|PMID:27869827|PMID:28492532|PMID:31216868|PMID:32964742|PMID:35177841|PMID:36264615|PMID:36937954 10050036 CV191311 NM_182961.4(SYNE1):c.23480C>G (p.Ala7827Gly) variant DOID:0070249 autosomal dominant Emery-Dreifuss muscular dystrophy 4 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES PMID:26467025|PMID:28492532 10050036 CV191311 NM_182961.4(SYNE1):c.23480C>G (p.Ala7827Gly) variant DOID:0111618 autosomal recessive spinocerebellar ataxia 8 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 PMID:26467025|PMID:28492532 10050036 CV191311 NM_182961.4(SYNE1):c.23480C>G (p.Ala7827Gly) variant DOID:630 genetic disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532 10050041 CV191320 NM_000238.4(KCNH2):c.3111C>T (p.Asp1037=) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:26467025|PMID:28492532 10050041 CV191320 NM_000238.4(KCNH2):c.3111C>T (p.Asp1037=) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmias PMID:25741868|PMID:26467025|PMID:28492532 10050042 CV191323 NM_000275.3(OCA2):c.1255C>T (p.Arg419Trp) variant DOID:0070096 oculocutaneous albinism type II IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Tyrosinase-positive oculocutaneous albinism PMID:21458243|PMID:23504663|PMID:24518832|PMID:25741868|PMID:28492532|PMID:29095814|PMID:29345414|PMID:30025130|PMID:31077556|PMID:31229681|PMID:32741191|PMID:33124154|PMID:9259203 10050042 CV191323 NM_000275.3(OCA2):c.1255C>T (p.Arg419Trp) variant DOID:9000752 Skin/Hair/Eye Pigmentation, Variation In, 1 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES PMID:21458243|PMID:23504663|PMID:24518832|PMID:25741868|PMID:28492532|PMID:29095814|PMID:29345414|PMID:30025130|PMID:31077556|PMID:31229681|PMID:32741191|PMID:33124154|PMID:9259203 10050044 CV191327 NM_000283.4(PDE6B):c.1685G>A (p.Gly562Asp) variant DOID:0110375 retinitis pigmentosa 40 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 40 PMID:20591486|PMID:21147909|PMID:25741868|PMID:28492532 10050046 CV191332 NM_000391.4(TPP1):c.1552-9C>T variant DOID:0110726 neuronal ceroid lipofuscinosis 2 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Ceroid lipofuscinosis neuronal 2 PMID:28492532 10050047 CV191333 NM_001278116.2(L1CAM):c.1547-4T>A variant DOID:2476 hereditary spastic paraplegia IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:25741868|PMID:28492532 10050047 CV191333 NM_001278116.2(L1CAM):c.1547-4T>A variant DOID:607 paraplegia IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:25741868|PMID:28492532 10050047 CV191333 NM_001278116.2(L1CAM):c.1547-4T>A variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10050048 CV191334 NM_000426.4(LAMA2):c.1816A>G (p.Ile606Val) variant DOID:0061132 autosomal recessive limb-girdle muscular dystrophy type 23 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, autosomal recessive 23 PMID:25741868|PMID:28492532 10050048 CV191334 NM_000426.4(LAMA2):c.1816A>G (p.Ile606Val) variant DOID:0110636 congenital merosin-deficient muscular dystrophy 1A IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Merosin deficient congenital muscular dystrophy PMID:25741868|PMID:28492532 10050051 CV191338 NM_201384.3(PLEC):c.1214C>T (p.Ala405Val) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:25741868|PMID:28492532 10050051 CV191338 NM_201384.3(PLEC):c.1214C>T (p.Ala405Val) variant DOID:630 genetic disease IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10050053 CV191345 NM_000548.5(TSC2):c.1258-10C>G variant DOID:0080325 tuberous sclerosis 2 IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:25741868|PMID:28492532 10050054 CV191346 NM_000702.4(ATP1A2):c.1666A>T (p.Asn556Tyr) variant DOID:0060178 familial hemiplegic migraine IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Familial hemiplegic migraine PMID:28492532 10050054 CV191346 NM_000702.4(ATP1A2):c.1666A>T (p.Asn556Tyr) variant DOID:0111182 familial hemiplegic migraine 2 IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Migraine, familial hemiplegic, 2 PMID:28492532 10050054 CV191346 NM_000702.4(ATP1A2):c.1666A>T (p.Asn556Tyr) variant DOID:9009197 Alternating Hemiplegia of Childhood 1 IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Alternating hemiplegia of childhood 1 PMID:28492532 10050055 CV191347 NM_000719.7(CACNA1C):c.1707A>G (p.Ala569=) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10050057 CV191352 NM_001017995.3(SH3PXD2B):c.1291G>A (p.Ala431Thr) variant DOID:0111789 Frank-Ter Haar syndrome IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Frank-Ter Haar syndrome PMID:22509100|PMID:28492532 10050059 CV191355 NM_001378615.1(CC2D2A):c.1324C>T (p.His442Tyr) variant DOID:630 genetic disease IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10050060 CV191356 NM_001082538.3(TCTN1):c.1563C>T (p.Tyr521=) variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 10050060 CV191356 NM_001082538.3(TCTN1):c.1563C>T (p.Tyr521=) variant DOID:0050778 Meckel syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:28492532 10050060 CV191356 NM_001082538.3(TCTN1):c.1563C>T (p.Tyr521=) variant DOID:0070115 Meckel syndrome 1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Dysencephalia splachnocystica PMID:28492532 10050060 CV191356 NM_001082538.3(TCTN1):c.1563C>T (p.Tyr521=) variant DOID:0110980 Joubert syndrome 1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:28492532 10050060 CV191356 NM_001082538.3(TCTN1):c.1563C>T (p.Tyr521=) variant DOID:0110982 Joubert syndrome 13 IAGP D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: TCTN1-related condition PMID:28492532 10050061 CV191358 NM_001297.5(CNGB1):c.878G>A (p.Ser293Asn) variant DOID:0110402 retinitis pigmentosa 45 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: CNGB1-related condition PMID:25741868|PMID:28492532 10050061 CV191358 NM_001297.5(CNGB1):c.878G>A (p.Ser293Asn) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532 10050061 CV191358 NM_001297.5(CNGB1):c.878G>A (p.Ser293Asn) variant DOID:5723 optic atrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:25741868|PMID:28492532 10050061 CV191358 NM_001297.5(CNGB1):c.878G>A (p.Ser293Asn) variant DOID:630 genetic disease IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10050062 CV191359 NM_001110556.2(FLNA):c.1875C>T (p.Asp625=) variant DOID:0050454 periventricular nodular heterotopia IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Periventricular nodular heterotopia 1 PMID:25741868|PMID:26467025|PMID:28492532 10050062 CV191359 NM_001110556.2(FLNA):c.1875C>T (p.Asp625=) variant DOID:0111784 otopalatodigital syndrome type 2 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II PMID:25741868|PMID:26467025|PMID:28492532 10050062 CV191359 NM_001110556.2(FLNA):c.1875C>T (p.Asp625=) variant DOID:0111785 frontometaphyseal dysplasia IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Frontometaphyseal dysplasia PMID:25741868|PMID:26467025|PMID:28492532 10050062 CV191359 NM_001110556.2(FLNA):c.1875C>T (p.Asp625=) variant DOID:0111788 Melnick-Needles syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles PMID:25741868|PMID:26467025|PMID:28492532 10050062 CV191359 NM_001110556.2(FLNA):c.1875C>T (p.Asp625=) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:26467025|PMID:28492532 10050062 CV191359 NM_001110556.2(FLNA):c.1875C>T (p.Asp625=) variant DOID:65 connective tissue disease IAGP D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:26467025|PMID:28492532 10050062 CV191359 NM_001110556.2(FLNA):c.1875C>T (p.Asp625=) variant DOID:9005082 Periventricular Nodular Heterotopia 4 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant PMID:25741868|PMID:26467025|PMID:28492532 10050063 CV191360 NM_001458.5(FLNC):c.2008-7C>T variant DOID:0080096 myofibrillar myopathy 5 IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy, filamin C-related PMID:28492532 10050064 CV191361 NM_001458.5(FLNC):c.2040C>T (p.Thr680=) variant DOID:0080096 myofibrillar myopathy 5 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy, filamin C-related PMID:28492532 10050064 CV191361 NM_001458.5(FLNC):c.2040C>T (p.Thr680=) variant DOID:0110327 hypertrophic cardiomyopathy 26 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 26 PMID:28492532 10050064 CV191361 NM_001458.5(FLNC):c.2040C>T (p.Thr680=) variant DOID:0111190 distal myopathy 4 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Distal myopathy with posterior leg and anterior hand involvement PMID:28492532 10050064 CV191361 NM_001458.5(FLNC):c.2040C>T (p.Thr680=) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant PMID:28492532 10050066 CV191363 NM_001848.3(COL6A1):c.981C>T (p.Ile327=) variant DOID:0050663 Bethlem myopathy IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Collagen VI-related myopathy PMID:25741868|PMID:28492532 10050066 CV191363 NM_001848.3(COL6A1):c.981C>T (p.Ile327=) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:25741868|PMID:28492532 10050068 CV191365 NM_002025.4(AFF2):c.2780G>A (p.Arg927His) variant DOID:0080984 X-linked intellectual developmental disorder 109 IAGP D RGD:8554872 20210420 ClinVar ClinVar Annotator: match by term: FRAXE MENTAL RETARDATION SYNDROME PMID:22773736|PMID:25741868|PMID:28492532 10050069 CV191366 NM_002047.4(GARS1):c.1614-4G>C variant DOID:0050538 Charcot-Marie-Tooth disease type 1 IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:25741868|PMID:28492532 10050069 CV191366 NM_002047.4(GARS1):c.1614-4G>C variant DOID:0050539 Charcot-Marie-Tooth disease type 2 IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 PMID:25741868|PMID:28492532 10050069 CV191366 NM_002047.4(GARS1):c.1614-4G>C variant DOID:10595 Charcot-Marie-Tooth disease IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:25741868|PMID:28492532 10050070 CV191368 NM_002206.3(ITGA7):c.1771G>A (p.Val591Met) variant DOID:0110639 congenital muscular dystrophy due to integrin alpha-7 deficiency IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy due to integrin alpha-7 deficiency PMID:25741868|PMID:28492532 10050071 CV191372 NM_001048166.1(STIL):c.2362G>A (p.Val788Ile) variant DOID:0070278 primary autosomal recessive microcephaly 7 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephaly 7, primary, autosomal recessive PMID:23772360|PMID:25741868|PMID:26467025|PMID:28492532 10050071 CV191372 NM_001048166.1(STIL):c.2362G>A (p.Val788Ile) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23772360|PMID:25741868|PMID:26467025|PMID:28492532 10050074 CV191375 NM_003383.5(VLDLR):c.1901G>A (p.Arg634His) variant DOID:0050997 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cerebellar disorder, nonprogressive, with mental retardation PMID:25741868|PMID:28492532 10050074 CV191375 NM_003383.5(VLDLR):c.1901G>A (p.Arg634His) variant DOID:0070338 cerebellar hypoplasia IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:25741868|PMID:28492532 10050074 CV191375 NM_003383.5(VLDLR):c.1901G>A (p.Arg634His) variant DOID:0070556 cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 1 PMID:25741868|PMID:28492532 10050075 CV191376 NM_003611.3(OFD1):c.1399C>T (p.Arg467Cys) variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 10050076 CV191379 NM_004239.4(TRIP11):c.4892+10del variant DOID:0080054 achondrogenesis type IA IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Achondrogenesis Houston-Harris type PMID:28492532 10050076 CV191379 NM_004239.4(TRIP11):c.4892+10del variant DOID:2256 osteochondrodysplasia IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: TRIP11-related condition PMID:28492532 10050079 CV191385 NM_001374353.1(GLI2):c.2251C>T (p.Leu751=) variant DOID:0110873 holoprosencephaly 9 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 9 PMID:28492532 10050080 CV191387 NM_001374353.1(GLI2):c.3418C>T (p.Leu1140=) variant DOID:0110873 holoprosencephaly 9 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 9 PMID:28492532 10050083 CV191396 NM_005609.4(PYGM):c.1537A>G (p.Ile513Val) variant DOID:2746 glycogen storage disease V IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Myophosphorylase deficiency PMID:23653251|PMID:25214167|PMID:25741863|PMID:25741868|PMID:28492532|PMID:29881221|PMID:30560358|PMID:34426522 10050084 CV191397 NM_153676.4(USH1C):c.1069C>T (p.Arg357Trp) variant DOID:0110830 Usher syndrome type 1C IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1C PMID:21569298|PMID:25741868|PMID:28492532 10050085 CV191398 NM_006017.3(PROM1):c.1469G>A (p.Ser490Asn) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10050086 CV191399 NM_006019.4(TCIRG1):c.1515C>T (p.Thr505=) variant DOID:0110942 autosomal recessive osteopetrosis 1 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 1 PMID:25741868|PMID:28492532 10050088 CV191401 NM_006922.4(SCN3A):c.2003G>A (p.Gly668Glu) variant DOID:0080420 developmental and epileptic encephalopathy 62 IAGP D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 62 PMID:25741868|PMID:28492532 10050088 CV191401 NM_006922.4(SCN3A):c.2003G>A (p.Gly668Glu) variant DOID:630 genetic disease IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10050090 CV191403 NM_006946.4(SPTBN2):c.1719C>T (p.His573=) variant DOID:1441 autosomal dominant cerebellar ataxia IAGP D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia PMID:26467025|PMID:28492532 10050091 CV191404 NM_006949.4(STXBP2):c.1034C>T (p.Thr345Met) variant DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5 PMID:24033266|PMID:25741868|PMID:28492532 10050091 CV191404 NM_006949.4(STXBP2):c.1034C>T (p.Thr345Met) variant DOID:2935 Chediak-Higashi syndrome IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:24033266|PMID:25741868|PMID:28492532 10050092 CV191405 NM_007254.4(PNKP):c.1177C>T (p.His393Tyr) variant DOID:0080459 developmental and epileptic encephalopathy 12 IAGP D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:25741868|PMID:28492532 10050092 CV191405 NM_007254.4(PNKP):c.1177C>T (p.His393Tyr) variant DOID:0110179 Charcot-Marie-Tooth disease type 2B2 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B2 PMID:25741868|PMID:28492532 10050093 CV191406 NM_007294.4(BRCA1):c.4392T>A (p.Pro1464=) variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:20215541|PMID:25741868|PMID:28288110|PMID:28492532 10050093 CV191406 NM_007294.4(BRCA1):c.4392T>A (p.Pro1464=) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:20215541|PMID:25741868|PMID:28288110|PMID:28492532 10050094 CV191407 NM_007294.4(BRCA1):c.4384G>A (p.Glu1462Lys) variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome PMID:25741868|PMID:28492532 10050094 CV191407 NM_007294.4(BRCA1):c.4384G>A (p.Glu1462Lys) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:25741868|PMID:28492532 10050094 CV191407 NM_007294.4(BRCA1):c.4384G>A (p.Glu1462Lys) variant DOID:9008952 Breast Cancer, Familial IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868|PMID:28492532 10050095 CV191408 NM_012144.4(DNAI1):c.1222G>A (p.Val408Met) variant DOID:0050144 Kartagener syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Kartagener syndrome PMID:16858015|PMID:25741868|PMID:28492532|PMID:28952366 10050095 CV191408 NM_012144.4(DNAI1):c.1222G>A (p.Val408Met) variant DOID:9562 primary ciliary dyskinesia IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:16858015|PMID:25741868|PMID:28492532|PMID:28952366 10050096 CV191410 NM_013382.7(POMT2):c.1404A>G (p.Lys468=) variant DOID:0110298 autosomal recessive limb-girdle muscular dystrophy type 2N IAGP D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 PMID:25741868|PMID:26467025|PMID:28492532 10050096 CV191410 NM_013382.7(POMT2):c.1404A>G (p.Lys468=) variant DOID:0111240 congenital muscular dystrophy-dystroglycanopathy type A2 IAGP D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 PMID:25741868|PMID:26467025|PMID:28492532 10050097 CV191411 NM_001330260.2(SCN8A):c.2073C>T (p.Tyr691=) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 10050097 CV191411 NM_001330260.2(SCN8A):c.2073C>T (p.Tyr691=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10050098 CV191412 NM_014425.5(INVS):c.1971C>G (p.Asp657Glu) variant DOID:0111112 nephronophthisis 1 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:25741868|PMID:28492532|PMID:31308072 10050098 CV191412 NM_014425.5(INVS):c.1971C>G (p.Asp657Glu) variant DOID:0111113 nephronophthisis 2 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Infantile nephronophthisis PMID:25741868|PMID:28492532|PMID:31308072 10050098 CV191412 NM_014425.5(INVS):c.1971C>G (p.Asp657Glu) variant DOID:12712 nephronophthisis IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:25741868|PMID:28492532|PMID:31308072 10050099 CV191413 NM_014425.5(INVS):c.1925A>G (p.Lys642Arg) variant DOID:0111112 nephronophthisis 1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:28492532 10050099 CV191413 NM_014425.5(INVS):c.1925A>G (p.Lys642Arg) variant DOID:0111113 nephronophthisis 2 IAGP D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: INVS-related condition PMID:28492532 10050099 CV191413 NM_014425.5(INVS):c.1925A>G (p.Lys642Arg) variant DOID:12712 nephronophthisis IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:28492532 10050100 CV191416 NM_015102.5(NPHP4):c.1533G>A (p.Pro511=) variant DOID:12712 nephronophthisis IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:28492532 10050101 CV191417 NM_016247.4(IMPG2):c.2372A>G (p.Glu791Gly) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532 10050102 CV191419 NM_152564.5(VPS13B):c.1768G>A (p.Ala590Thr) variant DOID:0111590 Cohen syndrome IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:17990063|PMID:25741868|PMID:26467025|PMID:28492532 10050102 CV191419 NM_152564.5(VPS13B):c.1768G>A (p.Ala590Thr) variant DOID:1059 intellectual disability IAGP D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:17990063|PMID:25741868|PMID:26467025|PMID:28492532 10050102 CV191419 NM_152564.5(VPS13B):c.1768G>A (p.Ala590Thr) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17990063|PMID:25741868|PMID:26467025|PMID:28492532 10050102 CV191419 NM_152564.5(VPS13B):c.1768G>A (p.Ala590Thr) variant DOID:9001162 Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness PMID:17990063|PMID:25741868|PMID:26467025|PMID:28492532 10050103 CV191420 NM_152564.5(VPS13B):c.1770G>A (p.Ala590=) variant DOID:0111590 Cohen syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: VPS13B-related condition PMID:28492532 10050103 CV191420 NM_152564.5(VPS13B):c.1770G>A (p.Ala590=) variant DOID:630 genetic disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10050103 CV191420 NM_152564.5(VPS13B):c.1770G>A (p.Ala590=) variant DOID:9001162 Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness PMID:28492532 10050104 CV191421 NM_019109.5(ALG1):c.1287T>A (p.Asp429Glu) variant DOID:0080563 congenital disorder of glycosylation Ik IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1K PMID:25741868|PMID:28492532 10050105 CV191422 NM_020549.5(CHAT):c.1823C>A (p.Thr608Asn) variant DOID:0110671 congenital myasthenic syndrome 6 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial infantile myasthenia PMID:21786365|PMID:28492532 10050106 CV191423 NM_021625.5(TRPV4):c.2106C>T (p.Tyr702=) variant DOID:0110182 Charcot-Marie-Tooth disease axonal type 2C IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2C PMID:28492532 10050106 CV191423 NM_021625.5(TRPV4):c.2106C>T (p.Tyr702=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10050107 CV191425 NM_022436.3(ABCG5):c.1864A>G (p.Met622Val) variant DOID:0060983 sitosterolemia 2 IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Sitosterolemia 2 PMID:11668628|PMID:16029460|PMID:25741868|PMID:28492532|PMID:28748566 10050107 CV191425 NM_022436.3(ABCG5):c.1864A>G (p.Met622Val) variant DOID:0070634 sitosterolemia 1 IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Sitosterolemia 1 PMID:11668628|PMID:16029460|PMID:25741868|PMID:28492532|PMID:28748566 10050107 CV191425 NM_022436.3(ABCG5):c.1864A>G (p.Met622Val) variant DOID:0090019 sitosterolemia IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Sitosterolemia PMID:11668628|PMID:16029460|PMID:25741868|PMID:28492532|PMID:28748566 10050108 CV191430 NM_024577.4(SH3TC2):c.3095G>A (p.Arg1032His) variant DOID:0050541 Charcot-Marie-Tooth disease type 4 IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:28492532 10050108 CV191430 NM_024577.4(SH3TC2):c.3095G>A (p.Arg1032His) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10050109 CV191431 NM_024577.4(SH3TC2):c.3097A>G (p.Ile1033Val) variant DOID:0050541 Charcot-Marie-Tooth disease type 4 IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:28492532 10050109 CV191431 NM_024577.4(SH3TC2):c.3097A>G (p.Ile1033Val) variant DOID:630 genetic disease IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10050111 CV191433 NM_024757.5(EHMT1):c.2039C>T (p.Ser680Leu) variant DOID:0060352 Kleefstra syndrome 1 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:25741868|PMID:28492532 10050111 CV191433 NM_024757.5(EHMT1):c.2039C>T (p.Ser680Leu) variant DOID:630 genetic disease IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10050112 CV191434 NM_025114.4(CEP290):c.1175T>G (p.Leu392Arg) variant DOID:630 genetic disease IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10050113 CV191435 NM_031220.4(PITPNM3):c.1688C>T (p.Thr563Met) variant DOID:0111010 cone-rod dystrophy 5 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 5 PMID:28492532|PMID:30718709 10050113 CV191435 NM_031220.4(PITPNM3):c.1688C>T (p.Thr563Met) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532|PMID:30718709 10050114 CV191437 NM_031433.4(MFRP):c.1635G>A (p.Ala545=) variant DOID:0060837 isolated microphthalmia 5 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Microphthalmia, isolated 5 PMID:28492532 10050114 CV191437 NM_031433.4(MFRP):c.1635G>A (p.Ala545=) variant DOID:8466 retinal degeneration IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Retinal degeneration PMID:28492532 10050115 CV191438 NM_182961.4(SYNE1):c.1141G>A (p.Asp381Asn) variant DOID:0070249 autosomal dominant Emery-Dreifuss muscular dystrophy 4 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES PMID:26467025|PMID:28492532 10050115 CV191438 NM_182961.4(SYNE1):c.1141G>A (p.Asp381Asn) variant DOID:0111618 autosomal recessive spinocerebellar ataxia 8 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: SYNE1-Related Autosomal Recessive Cerebellar Ataxia PMID:26467025|PMID:28492532 10050117 CV191444 NM_139343.3(BIN1):c.1142C>T (p.Pro381Leu) variant DOID:0111220 centronuclear myopathy 2 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Myopathy, centronuclear, 2 PMID:25741868|PMID:28492532 10050117 CV191444 NM_139343.3(BIN1):c.1142C>T (p.Pro381Leu) variant DOID:630 genetic disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10050118 CV191445 NM_153717.3(EVC):c.1826G>A (p.Arg609Gln) variant DOID:0111571 Weyers acrofacial dysostosis IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Curry-Hall syndrome PMID:25741868|PMID:28492532 10050118 CV191445 NM_153717.3(EVC):c.1826G>A (p.Arg609Gln) variant DOID:12714 Ellis-Van Creveld syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld Syndrome PMID:25741868|PMID:28492532 10050118 CV191445 NM_153717.3(EVC):c.1826G>A (p.Arg609Gln) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10050119 CV191447 NM_172107.4(KCNQ2):c.1503C>T (p.Ala501=) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 10050119 CV191447 NM_172107.4(KCNQ2):c.1503C>T (p.Ala501=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10050120 CV191451 NM_000335.5(SCN5A):c.2013C>T (p.Ser671=) variant DOID:0110218 Brugada syndrome 1 IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Right bundle branch block, ST segment elevation, and sudden death syndrome PMID:24033266|PMID:25741868|PMID:28492532|PMID:37732247 10050120 CV191451 NM_000335.5(SCN5A):c.2013C>T (p.Ser671=) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:24033266|PMID:25741868|PMID:28492532|PMID:37732247 10050121 CV191452 NM_198525.3(KIF7):c.2672G>C (p.Arg891Thr) variant DOID:0111356 hydrolethalus syndrome 2 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hydrolethalus syndrome 2 PMID:25741868|PMID:28492532 10050121 CV191452 NM_198525.3(KIF7):c.2672G>C (p.Arg891Thr) variant DOID:9003677 Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Macrocephaly with multiple epiphyseal dysplasia and distinctive facies PMID:25741868|PMID:28492532 10050121 CV191452 NM_198525.3(KIF7):c.2672G>C (p.Arg891Thr) variant DOID:9250 acrocallosal syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Schinzel syndrome 1 PMID:25741868|PMID:28492532 10050122 CV191453 NM_207361.6(FREM2):c.7062G>A (p.Thr2354=) variant DOID:0111407 Fraser syndrome 2 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: FRASER SYNDROME 2 PMID:28492532 10050123 CV191455 NM_001164508.2(NEB):c.22878C>A (p.Ala7626=) variant DOID:0110928 nemaline myopathy 2 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 2 PMID:28492532 10050124 CV191456 NM_182961.4(SYNE1):c.23713G>A (p.Glu7905Lys) variant DOID:0070249 autosomal dominant Emery-Dreifuss muscular dystrophy 4 IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES PMID:21270786|PMID:25741868|PMID:27981572|PMID:28492532 10050124 CV191456 NM_182961.4(SYNE1):c.23713G>A (p.Glu7905Lys) variant DOID:0111618 autosomal recessive spinocerebellar ataxia 8 IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 PMID:21270786|PMID:25741868|PMID:27981572|PMID:28492532 10050126 CV191458 NM_001164508.2(NEB):c.23013C>T (p.Ser7671=) variant DOID:0110928 nemaline myopathy 2 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 2 PMID:28492532 10050127 CV191459 NM_001267550.2(TTN):c.32808G>T (p.Val10936=) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:28492532 10050128 CV191461 NM_001267550.2(TTN):c.32970_32987del (p.10987_10989EEY[1]) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10050128 CV191461 NM_001267550.2(TTN):c.32970_32987del (p.10987_10989EEY[1]) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:25741868|PMID:28492532 10050128 CV191461 NM_001267550.2(TTN):c.32970_32987del (p.10987_10989EEY[1]) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:25741868|PMID:28492532 10050129 CV191462 NM_182961.4(SYNE1):c.24349C>T (p.Arg8117Trp) variant DOID:0070249 autosomal dominant Emery-Dreifuss muscular dystrophy 4 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES PMID:26467025|PMID:28492532 10050129 CV191462 NM_182961.4(SYNE1):c.24349C>T (p.Arg8117Trp) variant DOID:0111618 autosomal recessive spinocerebellar ataxia 8 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 PMID:26467025|PMID:28492532 10050130 CV191463 NM_182961.4(SYNE1):c.24569A>C (p.Asp8190Ala) variant DOID:0111618 autosomal recessive spinocerebellar ataxia 8 IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 PMID:28492532 10050131 CV191464 NM_001267550.2(TTN):c.33340+5A>C variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:28492532 10050131 CV191464 NM_001267550.2(TTN):c.33340+5A>C variant DOID:0110315 hypertrophic cardiomyopathy 9 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 9 PMID:28492532 10050131 CV191464 NM_001267550.2(TTN):c.33340+5A>C variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:28492532 10050132 CV191465 NM_001267550.2(TTN):c.33267A>G (p.Lys11089=) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:28492532 10050133 CV191467 NM_182961.4(SYNE1):c.24867T>C (p.Tyr8289=) variant DOID:0111618 autosomal recessive spinocerebellar ataxia 8 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 PMID:28492532 10050134 CV191468 NM_182961.4(SYNE1):c.24827C>G (p.Ala8276Gly) variant DOID:0070249 autosomal dominant Emery-Dreifuss muscular dystrophy 4 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant PMID:26467025|PMID:28492532 10050134 CV191468 NM_182961.4(SYNE1):c.24827C>G (p.Ala8276Gly) variant DOID:0111618 autosomal recessive spinocerebellar ataxia 8 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 PMID:26467025|PMID:28492532 10050135 CV191469 NM_182961.4(SYNE1):c.24723C>G (p.His8241Gln) variant DOID:0070249 autosomal dominant Emery-Dreifuss muscular dystrophy 4 IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES PMID:25741868|PMID:26467025|PMID:28492532 10050135 CV191469 NM_182961.4(SYNE1):c.24723C>G (p.His8241Gln) variant DOID:0111618 autosomal recessive spinocerebellar ataxia 8 IAGP D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 PMID:25741868|PMID:26467025|PMID:28492532 10050135 CV191469 NM_182961.4(SYNE1):c.24723C>G (p.His8241Gln) variant DOID:1059 intellectual disability IAGP D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:26467025|PMID:28492532 10050135 CV191469 NM_182961.4(SYNE1):c.24723C>G (p.His8241Gln) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 10050136 CV191470 NM_001267550.2(TTN):c.33382C>G (p.Pro11128Ala) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:25741868 10050137 CV191472 NM_001347702.2(SYNE1):c.1464T>G (p.Pro488=) variant DOID:0111618 autosomal recessive spinocerebellar ataxia 8 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type PMID:25741868|PMID:28492532 10050138 CV191474 NM_001164508.2(NEB):c.23650-5T>G variant DOID:0110928 nemaline myopathy 2 IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 2 PMID:28492532 10050139 CV191476 NM_000018.4(ACADVL):c.1434+14T>A variant DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:25741868|PMID:28492532 10050139 CV191476 NM_000018.4(ACADVL):c.1434+14T>A variant DOID:630 genetic disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10050140 CV191478 NM_000018.4(ACADVL):c.1366C>T (p.Arg456Cys) variant DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:17206456|PMID:25741868|PMID:28492532|PMID:30194637|PMID:30950014|PMID:33150772 10050141 CV191479 NM_000018.4(ACADVL):c.1367G>A (p.Arg456His) variant DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:17206456|PMID:21932095|PMID:25741868|PMID:26182500|PMID:28492532|PMID:29268767|PMID:30194637|PMID:9973285 10050142 CV191484 NM_000152.5(GAA):c.1889-5C>T variant DOID:2752 glycogen storage disease II IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type II PMID:25741868|PMID:28492532 10050143 CV191487 NM_000182.5(HADHA):c.1418C>A (p.Ala473Asp) variant DOID:0061186 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency PMID:25741868|PMID:28492532 10050143 CV191487 NM_000182.5(HADHA):c.1418C>A (p.Ala473Asp) variant DOID:0111277 mitochondrial trifunctional protein deficiency IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Mitochondrial trifunctional protein deficiency PMID:25741868|PMID:28492532 10050144 CV191490 NM_001128178.3(NPHP1):c.1270-4C>T variant DOID:0110999 Joubert syndrome 4 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Joubert syndrome 4 PMID:28492532 10050144 CV191490 NM_001128178.3(NPHP1):c.1270-4C>T variant DOID:0111112 nephronophthisis 1 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Nephronophthisis 1 PMID:28492532 10050144 CV191490 NM_001128178.3(NPHP1):c.1270-4C>T variant DOID:12712 nephronophthisis IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:28492532 10050144 CV191490 NM_001128178.3(NPHP1):c.1270-4C>T variant DOID:9004365 Senior-Loken Syndrome 1 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 1 PMID:28492532 10050145 CV191491 NM_000283.4(PDE6B):c.1781G>T (p.Gly594Val) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532|PMID:34906470 10050145 CV191491 NM_000283.4(PDE6B):c.1781G>T (p.Gly594Val) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532|PMID:34906470 10050146 CV191493 NM_000334.4(SCN4A):c.2721C>T (p.Leu907=) variant DOID:14451 hyperkalemic periodic paralysis IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Familial hyperkalemic periodic paralysis PMID:28492532 10050147 CV191494 NM_000334.4(SCN4A):c.2478C>T (p.Ile826=) variant DOID:0110682 congenital myasthenic syndrome 16 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome, acetazolamide-responsive PMID:28492532 10050147 CV191494 NM_000334.4(SCN4A):c.2478C>T (p.Ile826=) variant DOID:0111538 paramyotonia congenita of Von Eulenburg IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Von Eulenburg paramyotonia congenita PMID:28492532 10050147 CV191494 NM_000334.4(SCN4A):c.2478C>T (p.Ile826=) variant DOID:14451 hyperkalemic periodic paralysis IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Gamstorp disease PMID:28492532 10050147 CV191494 NM_000334.4(SCN4A):c.2478C>T (p.Ile826=) variant DOID:9001333 Hypokalemic Periodic Paralysis, Type 2 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 2 PMID:28492532 10050147 CV191494 NM_000334.4(SCN4A):c.2478C>T (p.Ile826=) variant DOID:9005884 Potassium Aggravated Myotonia IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Myotonia congenita, acetazolamide-responsive PMID:28492532 10050149 CV191499 NM_000492.4(CFTR):c.2079T>G (p.Phe693Leu) variant DOID:1485 cystic fibrosis IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Cystic fibrosis PMID:10970190|PMID:11504857|PMID:12167682|PMID:14685937|PMID:15354332|PMID:15858154|PMID:19017867|PMID:23087020|PMID:25741868|PMID:26467025|PMID:28492532|PMID:38388235|PMID:38515211|PMID:7541510|PMID:8406518|PMID:9459003|PMID:9736778 10050150 CV191501 NM_000512.5(GALNS):c.1513G>A (p.Gly505Arg) variant DOID:630 genetic disease IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10050151 CV191502 NM_000520.6(HEXA):c.1527-6T>C variant DOID:3320 Tay-Sachs disease IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:25741868|PMID:26467025|PMID:28492532|PMID:8081943|PMID:9090523 10050153 CV191504 NM_000719.7(CACNA1C):c.2073C>T (p.Asn691=) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10050154 CV191505 NM_000719.7(CACNA1C):c.2068G>A (p.Asp690Asn) variant DOID:0060173 Timothy syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Timothy syndrome PMID:25741868|PMID:28492532|PMID:37227348 10050154 CV191505 NM_000719.7(CACNA1C):c.2068G>A (p.Asp690Asn) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532|PMID:37227348 10050155 CV191506 NM_000726.5(CACNB4):c.*4T>C variant DOID:0050993 episodic ataxia type 5 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Episodic ataxia, type 5 PMID:26467025 10050155 CV191506 NM_000726.5(CACNB4):c.*4T>C variant DOID:4890 juvenile myoclonic epilepsy IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Juvenile myoclonic epilepsy PMID:26467025 10050156 CV191507 NM_000726.5(CACNB4):c.1437G>A (p.Gln479=) variant DOID:9009315 Idiopathic Generalized Epilepsy IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:26467025|PMID:28492532 10050158 CV191509 NM_001033855.3(DCLRE1C):c.1333C>T (p.Arg445Cys) variant DOID:0080915 histiocytic sarcoma IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Histiocytic medullary reticulosis PMID:25741868|PMID:28492532 10050158 CV191509 NM_001033855.3(DCLRE1C):c.1333C>T (p.Arg445Cys) variant DOID:0090012 severe combined immunodeficiency with sensitivity to ionizing radiation IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to DCLRE1C deficiency PMID:25741868|PMID:28492532 10050159 CV191510 NM_001033855.3(DCLRE1C):c.2001A>G (p.Leu667=) variant DOID:0060010 Omenn syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency with hypereosinophilia PMID:28492532 10050159 CV191510 NM_001033855.3(DCLRE1C):c.2001A>G (p.Leu667=) variant DOID:0080915 histiocytic sarcoma IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Histiocytic medullary reticulosis PMID:28492532 10050159 CV191510 NM_001033855.3(DCLRE1C):c.2001A>G (p.Leu667=) variant DOID:0090012 severe combined immunodeficiency with sensitivity to ionizing radiation IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to DCLRE1C deficiency PMID:28492532 10050160 CV191511 NM_001377.3(DYNC2H1):c.1966G>A (p.Gly656Arg) variant DOID:0050592 asphyxiating thoracic dystrophy IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:28492532 10050160 CV191511 NM_001377.3(DYNC2H1):c.1966G>A (p.Gly656Arg) variant DOID:0110087 asphyxiating thoracic dystrophy 3 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: DYNC2H1-related disorder PMID:28492532 10050161 CV191512 NM_001377.3(DYNC2H1):c.2005A>G (p.Lys669Glu) variant DOID:0050592 asphyxiating thoracic dystrophy IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Short Rib Polydactyly Syndrome PMID:28492532 10050162 CV191513 NM_001378615.1(CC2D2A):c.1418C>T (p.Ser473Phe) variant DOID:630 genetic disease IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10050163 CV191514 NM_001083961.2(WDR62):c.1769-7C>T variant DOID:0070293 primary autosomal recessive microcephaly 2 with or without cortical malformations IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: WDR62-related condition PMID:28492532 10050165 CV191517 NM_001130987.2(DYSF):c.1439T>C (p.Leu480Pro) variant DOID:0070199 Miyoshi muscular dystrophy 1 IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Miyoshi muscular dystrophy 1 PMID:23519732|PMID:25741868|PMID:27602406|PMID:33610434 10050165 CV191517 NM_001130987.2(DYSF):c.1439T>C (p.Leu480Pro) variant DOID:0110276 autosomal recessive limb-girdle muscular dystrophy type 2B IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2B PMID:23519732|PMID:25741868|PMID:27602406|PMID:33610434 10050166 CV191518 NM_001351132.2(PEX5):c.1413G>C (p.Val471=) variant DOID:0080477 peroxisome biogenesis disorder 2A IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2A (Zellweger) PMID:28492532 10050166 CV191518 NM_001351132.2(PEX5):c.1413G>C (p.Val471=) variant DOID:0080622 peroxisome biogenesis disorder 2B IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:28492532 10050167 CV191519 NM_001134363.3(RBM20):c.3584C>A (p.Ser1195Tyr) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:25741868|PMID:26084686|PMID:27296017|PMID:28087566|PMID:28492532|PMID:28798025|PMID:30847666|PMID:32851336|PMID:32880476 10050167 CV191519 NM_001134363.3(RBM20):c.3584C>A (p.Ser1195Tyr) variant DOID:0110447 dilated cardiomyopathy 1DD IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1DD PMID:25741868|PMID:26084686|PMID:27296017|PMID:28087566|PMID:28492532|PMID:28798025|PMID:30847666|PMID:32851336|PMID:32880476 10050168 CV191520 NM_001142800.2(EYS):c.2234A>G (p.Asn745Ser) variant DOID:0110384 retinitis pigmentosa 25 IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 25 PMID:20333770|PMID:21069908|PMID:21519034|PMID:25741868|PMID:26103963|PMID:28492532|PMID:30487145 10050168 CV191520 NM_001142800.2(EYS):c.2234A>G (p.Asn745Ser) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:20333770|PMID:21069908|PMID:21519034|PMID:25741868|PMID:26103963|PMID:28492532|PMID:30487145 10050170 CV191527 NM_001369.3(DNAH5):c.1955G>A (p.Ser652Asn) variant DOID:9562 primary ciliary dyskinesia IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 10050172 CV191529 NM_001848.3(COL6A1):c.1013G>A (p.Gly338Glu) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:15689448|PMID:19344236|PMID:24038877|PMID:25741868|PMID:28492532|PMID:7695699|PMID:8218237 10050173 CV191530 NM_002047.4(GARS1):c.1716G>A (p.Pro572=) variant DOID:0050539 Charcot-Marie-Tooth disease type 2 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:19329989|PMID:25741868|PMID:26467025|PMID:28492532 10050173 CV191530 NM_002047.4(GARS1):c.1716G>A (p.Pro572=) variant DOID:0110164 Charcot-Marie-Tooth disease type 2D IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2D PMID:19329989|PMID:25741868|PMID:26467025|PMID:28492532 10050173 CV191530 NM_002047.4(GARS1):c.1716G>A (p.Pro572=) variant DOID:0111203 autosomal dominant distal hereditary motor neuronopathy 5 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5A PMID:19329989|PMID:25741868|PMID:26467025|PMID:28492532 10050173 CV191530 NM_002047.4(GARS1):c.1716G>A (p.Pro572=) variant DOID:10595 Charcot-Marie-Tooth disease IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:19329989|PMID:25741868|PMID:26467025|PMID:28492532 10050173 CV191530 NM_002047.4(GARS1):c.1716G>A (p.Pro572=) variant DOID:12377 spinal muscular atrophy IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy PMID:19329989|PMID:25741868|PMID:26467025|PMID:28492532 10050174 CV191532 NM_002180.3(IGHMBP2):c.2618C>T (p.Pro873Leu) variant DOID:0111064 autosomal recessive distal hereditary motor neuronopathy 1 IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy, distal, autosomal recessive, 1 PMID:25741868|PMID:28492532 10050174 CV191532 NM_002180.3(IGHMBP2):c.2618C>T (p.Pro873Leu) variant DOID:10595 Charcot-Marie-Tooth disease IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:25741868|PMID:28492532 10050174 CV191532 NM_002180.3(IGHMBP2):c.2618C>T (p.Pro873Leu) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10050175 CV191534 NM_001161352.2(KCNMA1):c.1641C>T (p.Asp547=) variant DOID:0070442 paroxysmal nonkinesigenic dyskinesia 3 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy PMID:28492532 10050176 CV191535 NM_001105206.3(LAMA4):c.1673C>T (p.Ala558Val) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 10050176 CV191535 NM_001105206.3(LAMA4):c.1673C>T (p.Ala558Val) variant DOID:0110438 dilated cardiomyopathy 1JJ IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1JJ PMID:24033266|PMID:25741868|PMID:28492532 10050178 CV191539 NM_002693.3(POLG):c.2369G>A (p.Arg790His) variant DOID:0080122 Alpers-Huttenlocher syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy PMID:16715201|PMID:21880868|PMID:25741868|PMID:26467025|PMID:28492532 10050178 CV191539 NM_002693.3(POLG):c.2369G>A (p.Arg790His) variant DOID:2476 hereditary spastic paraplegia IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:16715201|PMID:21880868|PMID:25741868|PMID:26467025|PMID:28492532 10050178 CV191539 NM_002693.3(POLG):c.2369G>A (p.Arg790His) variant DOID:630 genetic disease IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16715201|PMID:21880868|PMID:25741868|PMID:26467025|PMID:28492532 10050180 CV191543 NM_003322.6(TULP1):c.1376T>C (p.Ile459Thr) variant DOID:0110189 Leber congenital amaurosis 15 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: TULP1-related condition PMID:24154662|PMID:25741868|PMID:28492532|PMID:3203739|PMID:32037395|PMID:9462750 10050180 CV191543 NM_003322.6(TULP1):c.1376T>C (p.Ile459Thr) variant DOID:0110381 retinitis pigmentosa 14 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: RETINITIS PIGMENTOSA, JUVENILE, TULP1-RELATED PMID:24154662|PMID:25741868|PMID:28492532|PMID:3203739|PMID:32037395|PMID:9462750 10050180 CV191543 NM_003322.6(TULP1):c.1376T>C (p.Ile459Thr) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:24154662|PMID:25741868|PMID:28492532|PMID:3203739|PMID:32037395|PMID:9462750 10050181 CV191551 NM_005045.4(RELN):c.1600C>T (p.Pro534Ser) variant DOID:630 genetic disease IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10050183 CV191554 NM_201525.4(ADGRG1):c.1810C>T (p.Leu604=) variant DOID:0080922 bilateral frontoparietal polymicrogyria IAGP D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Polymicrogyria, bilateral frontoparietal PMID:28492532 10050184 CV191557 NM_001379110.1(SLC9A6):c.1599A>C (p.Glu533Asp) variant DOID:0060825 Christianson syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Christianson syndrome PMID:28492532 10050186 CV191561 NM_007254.4(PNKP):c.1210C>T (p.Arg404Cys) variant DOID:0080459 developmental and epileptic encephalopathy 12 IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12 PMID:28492532 10050186 CV191561 NM_007254.4(PNKP):c.1210C>T (p.Arg404Cys) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10050188 CV191563 NM_013382.7(POMT2):c.1485-4A>C variant DOID:0111240 congenital muscular dystrophy-dystroglycanopathy type A2 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 PMID:28492532 10050189 CV191564 NM_014141.6(CNTNAP2):c.2242G>T (p.Asp748Tyr) variant DOID:0090130 cortical dysplasia-focal epilepsy syndrome IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Cortical dysplasia-focal epilepsy syndrome PMID:25741868|PMID:28492532 10050189 CV191564 NM_014141.6(CNTNAP2):c.2242G>T (p.Asp748Tyr) variant DOID:12849 autistic disorder IAGP D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: AUTISM, SUSCEPTIBILITY TO, 15 PMID:25741868|PMID:28492532 10050189 CV191564 NM_014141.6(CNTNAP2):c.2242G>T (p.Asp748Tyr) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10050190 CV191565 NM_001330260.2(SCN8A):c.2287A>G (p.Ile763Val) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:27875746|PMID:28492532|PMID:31487502 10050191 CV191566 NM_014251.3(SLC25A13):c.1434G>T (p.Gly478=) variant DOID:9009138 Citrullinemia Type 2 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Citrullinemia type II PMID:28492532 10050192 CV191568 NM_014425.5(INVS):c.2686G>A (p.Val896Ile) variant DOID:0111112 nephronophthisis 1 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:25741868|PMID:28492532|PMID:31131822|PMID:31308072|PMID:31328266|PMID:33323469|PMID:34426522 10050192 CV191568 NM_014425.5(INVS):c.2686G>A (p.Val896Ile) variant DOID:0111113 nephronophthisis 2 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Infantile nephronophthisis PMID:25741868|PMID:28492532|PMID:31131822|PMID:31308072|PMID:31328266|PMID:33323469|PMID:34426522 10050192 CV191568 NM_014425.5(INVS):c.2686G>A (p.Val896Ile) variant DOID:12712 nephronophthisis IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:25741868|PMID:28492532|PMID:31131822|PMID:31308072|PMID:31328266|PMID:33323469|PMID:34426522 10050193 CV191569 NM_014425.5(INVS):c.2785A>G (p.Ser929Gly) variant DOID:0111112 nephronophthisis 1 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:25741868|PMID:28492532|PMID:31308072 10050193 CV191569 NM_014425.5(INVS):c.2785A>G (p.Ser929Gly) variant DOID:0111113 nephronophthisis 2 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Infantile nephronophthisis PMID:25741868|PMID:28492532|PMID:31308072 10050193 CV191569 NM_014425.5(INVS):c.2785A>G (p.Ser929Gly) variant DOID:12712 nephronophthisis IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:25741868|PMID:28492532|PMID:31308072 10050194 CV191570 NM_014425.5(INVS):c.2311G>A (p.Asp771Asn) variant DOID:0111112 nephronophthisis 1 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:25741868|PMID:28492532 10050194 CV191570 NM_014425.5(INVS):c.2311G>A (p.Asp771Asn) variant DOID:0111113 nephronophthisis 2 IAGP D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: INVS-related condition PMID:25741868|PMID:28492532 10050194 CV191570 NM_014425.5(INVS):c.2311G>A (p.Asp771Asn) variant DOID:12712 nephronophthisis IAGP D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:25741868|PMID:28492532 10050195 CV191571 NM_014425.5(INVS):c.2776G>A (p.Ala926Thr) variant DOID:0111113 nephronophthisis 2 IAGP D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Infantile nephronophthisis PMID:25741868|PMID:28492532 10050195 CV191571 NM_014425.5(INVS):c.2776G>A (p.Ala926Thr) variant DOID:12712 nephronophthisis IAGP D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:25741868|PMID:28492532 10050195 CV191571 NM_014425.5(INVS):c.2776G>A (p.Ala926Thr) variant DOID:630 genetic disease IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10050196 CV191572 NM_014874.4(MFN2):c.1452G>A (p.Thr484=) variant DOID:0050539 Charcot-Marie-Tooth disease type 2 IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 PMID:25326637|PMID:25741868|PMID:26467025|PMID:28492532 10050196 CV191572 NM_014874.4(MFN2):c.1452G>A (p.Thr484=) variant DOID:0080068 Charcot-Marie-Tooth disease type 6 IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: PERIPHERAL NEUROPATHY AND OPTIC ATROPHY PMID:25326637|PMID:25741868|PMID:26467025|PMID:28492532 10050196 CV191572 NM_014874.4(MFN2):c.1452G>A (p.Thr484=) variant DOID:0111449 progressive myoclonus epilepsy 6 IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 6 PMID:25326637|PMID:25741868|PMID:26467025|PMID:28492532 10050196 CV191572 NM_014874.4(MFN2):c.1452G>A (p.Thr484=) variant DOID:10595 Charcot-Marie-Tooth disease IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:25326637|PMID:25741868|PMID:26467025|PMID:28492532 10050196 CV191572 NM_014874.4(MFN2):c.1452G>A (p.Thr484=) variant DOID:630 genetic disease IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25326637|PMID:25741868|PMID:26467025|PMID:28492532 10050197 CV191573 NM_014956.5(CEP164):c.1639G>A (p.Glu547Lys) variant DOID:0111123 nephronophthisis 15 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Nephronophthisis 15 PMID:25741868|PMID:28492532 10050198 CV191574 NM_015102.5(NPHP4):c.1632C>T (p.Ala544=) variant DOID:0111115 nephronophthisis 4 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Nephronophthisis 4 PMID:28492532 10050198 CV191574 NM_015102.5(NPHP4):c.1632C>T (p.Ala544=) variant DOID:12712 nephronophthisis IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:28492532 10050198 CV191574 NM_015102.5(NPHP4):c.1632C>T (p.Ala544=) variant DOID:9000511 Senior-Loken Syndrome 4 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 4 PMID:28492532 10050199 CV191575 NM_015272.5(RPGRIP1L):c.1592A>G (p.Glu531Gly) variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:25741868|PMID:28492532 10050199 CV191575 NM_015272.5(RPGRIP1L):c.1592A>G (p.Glu531Gly) variant DOID:0050778 Meckel syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:25741868|PMID:28492532 10050199 CV191575 NM_015272.5(RPGRIP1L):c.1592A>G (p.Glu531Gly) variant DOID:0070115 Meckel syndrome 1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Dysencephalia splachnocystica PMID:25741868|PMID:28492532 10050199 CV191575 NM_015272.5(RPGRIP1L):c.1592A>G (p.Glu531Gly) variant DOID:0070119 Meckel syndrome 5 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 5 PMID:25741868|PMID:28492532 10050199 CV191575 NM_015272.5(RPGRIP1L):c.1592A>G (p.Glu531Gly) variant DOID:0110980 Joubert syndrome 1 IAGP D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:25741868|PMID:28492532 10050199 CV191575 NM_015272.5(RPGRIP1L):c.1592A>G (p.Glu531Gly) variant DOID:0111002 Joubert syndrome 7 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Joubert syndrome 7 PMID:25741868|PMID:28492532 10050199 CV191575 NM_015272.5(RPGRIP1L):c.1592A>G (p.Glu531Gly) variant DOID:630 genetic disease IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10050199 CV191575 NM_015272.5(RPGRIP1L):c.1592A>G (p.Glu531Gly) variant DOID:9007694 COACH Syndrome 3 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: COACH syndrome 3 PMID:25741868|PMID:28492532 10050202 CV191578 NM_015631.6(TCTN3):c.1774C>G (p.Leu592Val) variant DOID:0060374 orofaciodigital syndrome IV IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Orofacial-digital syndrome IV PMID:25741868|PMID:28492532 10050202 CV191578 NM_015631.6(TCTN3):c.1774C>G (p.Leu592Val) variant DOID:0110987 Joubert Syndrome 18 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Joubert syndrome 18 PMID:25741868|PMID:28492532 10050202 CV191578 NM_015631.6(TCTN3):c.1774C>G (p.Leu592Val) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10050203 CV191581 NM_017777.4(MKS1):c.1196G>C (p.Cys399Ser) variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 10050203 CV191581 NM_017777.4(MKS1):c.1196G>C (p.Cys399Ser) variant DOID:0050778 Meckel syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:28492532 10050203 CV191581 NM_017777.4(MKS1):c.1196G>C (p.Cys399Ser) variant DOID:0070115 Meckel syndrome 1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 1 PMID:28492532 10050203 CV191581 NM_017777.4(MKS1):c.1196G>C (p.Cys399Ser) variant DOID:0110980 Joubert syndrome 1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:28492532 10050204 CV191582 NM_017780.4(CHD7):c.3463C>T (p.Arg1155Cys) variant DOID:0050834 CHARGE syndrome IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: CHARGE association PMID:25741868|PMID:28492532 10050205 CV191583 NM_019098.5(CNGB3):c.1607T>C (p.Met536Thr) variant DOID:13911 achromatopsia IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Achromatopsia PMID:28492532 10050206 CV191584 NM_020366.4(RPGRIP1):c.2075A>G (p.His692Arg) variant DOID:0110329 Leber congenital amaurosis 6 IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 6 PMID:25741868|PMID:28492532 10050206 CV191584 NM_020366.4(RPGRIP1):c.2075A>G (p.His692Arg) variant DOID:0111016 cone-rod dystrophy 13 IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 13 PMID:25741868|PMID:28492532 10050207 CV191585 NM_020549.5(CHAT):c.1883G>A (p.Arg628Gln) variant DOID:0110671 congenital myasthenic syndrome 6 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial infantile myasthenia PMID:25741868|PMID:28492532 10050208 CV191586 NM_020686.6(ABAT):c.1157C>T (p.Pro386Leu) variant DOID:0060174 GABA aminotransferase deficiency IAGP D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiency PMID:25741868|PMID:28492532 10050209 CV191587 NM_020822.3(KCNT1):c.1394C>T (p.Thr465Met) variant DOID:0080439 developmental and epileptic encephalopathy 14 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:28492532 10050209 CV191587 NM_020822.3(KCNT1):c.1394C>T (p.Thr465Met) variant DOID:630 genetic disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10050210 CV191589 NM_020975.6(RET):c.2454G>A (p.Glu818=) variant DOID:0050430 multiple endocrine neoplasia type 2A IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2 PMID:25741868|PMID:28492532 10050210 CV191589 NM_020975.6(RET):c.2454G>A (p.Glu818=) variant DOID:0060731 congenital central hypoventilation syndrome IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Congenital central hypoventilation PMID:25741868|PMID:28492532 10050210 CV191589 NM_020975.6(RET):c.2454G>A (p.Glu818=) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532 10050211 CV191591 NM_022081.6(HPS4):c.*5C>T variant DOID:0060542 Hermansky-Pudlak syndrome 4 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: HPS4-related condition 10050213 CV191595 NM_024753.5(TTC21B):c.1697A>G (p.His566Arg) variant DOID:0050592 asphyxiating thoracic dystrophy IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:21258341|PMID:25741868|PMID:28492532 10050213 CV191595 NM_024753.5(TTC21B):c.1697A>G (p.His566Arg) variant DOID:0110088 asphyxiating thoracic dystrophy 4 IAGP D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 4 PMID:21258341|PMID:25741868|PMID:28492532 10050213 CV191595 NM_024753.5(TTC21B):c.1697A>G (p.His566Arg) variant DOID:0111119 nephronophthisis 12 IAGP D RGD:8554872 20190312 ClinVar ClinVar Annotator: match by term: Nephronophthisis 12 PMID:21258341|PMID:25741868|PMID:28492532 10050215 CV191597 NM_025114.4(CEP290):c.1214C>T (p.Thr405Ile) variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:25741868|PMID:28492532 10050215 CV191597 NM_025114.4(CEP290):c.1214C>T (p.Thr405Ile) variant DOID:0110291 Leber congenital amaurosis 10 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 10 PMID:25741868|PMID:28492532 10050217 CV191599 NM_001267550.2(TTN):c.2137C>A (p.Arg713=) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:28492532 10050218 CV191600 NM_138694.4(PKHD1):c.1018G>A (p.Gly340Arg) variant DOID:0080212 polycystic kidney disease 4 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease 4 PMID:25741868 10050218 CV191600 NM_138694.4(PKHD1):c.1018G>A (p.Gly340Arg) variant DOID:0110860 polycystic kidney disease 3 IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: PKD3 PMID:25741868 10050218 CV191600 NM_138694.4(PKHD1):c.1018G>A (p.Gly340Arg) variant DOID:0110861 autosomal recessive polycystic kidney disease IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease PMID:25741868 10050218 CV191600 NM_138694.4(PKHD1):c.1018G>A (p.Gly340Arg) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 10050218 CV191600 NM_138694.4(PKHD1):c.1018G>A (p.Gly340Arg) variant DOID:898 autosomal dominant polycystic kidney disease IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1 PMID:25741868 10050219 CV191602 NM_001384474.1(LOXHD1):c.1843C>T (p.Arg615Trp) variant DOID:0110525 autosomal recessive nonsyndromic deafness 77 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 77 PMID:25741868|PMID:27984600|PMID:28492532 10050220 CV191604 NM_147127.5(EVC2):c.2151C>T (p.His717=) variant DOID:12714 Ellis-Van Creveld syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:20184732|PMID:25741868|PMID:28492532 10050221 CV191606 NM_147127.5(EVC2):c.2244C>T (p.Thr748=) variant DOID:0111571 Weyers acrofacial dysostosis IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: WEYERS ACRODENTAL DYSOSTOSIS PMID:28492532 10050221 CV191606 NM_147127.5(EVC2):c.2244C>T (p.Thr748=) variant DOID:12714 Ellis-Van Creveld syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:28492532 10050222 CV191607 NM_147127.5(EVC2):c.2301G>A (p.Gly767=) variant DOID:12714 Ellis-Van Creveld syndrome IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:28492532 10050223 CV191608 NM_153717.3(EVC):c.1928G>A (p.Arg643His) variant DOID:12714 Ellis-Van Creveld syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:28492532 10050223 CV191608 NM_153717.3(EVC):c.1928G>A (p.Arg643His) variant DOID:630 genetic disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10050224 CV191609 NM_172107.4(KCNQ2):c.1627G>A (p.Val543Met) variant DOID:0080421 developmental and epileptic encephalopathy 11 IAGP D RGD:8554872 20240625 ClinVar ClinVar Annotator: match by term: Complex neurodevelopmental disorder PMID:25741868|PMID:28399683|PMID:28492532|PMID:29056246|PMID:31199083|PMID:35104249 10050224 CV191609 NM_172107.4(KCNQ2):c.1627G>A (p.Val543Met) variant DOID:0080462 developmental and epileptic encephalopathy 7 IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 7 PMID:25741868|PMID:28399683|PMID:28492532|PMID:29056246|PMID:31199083|PMID:35104249 10050224 CV191609 NM_172107.4(KCNQ2):c.1627G>A (p.Val543Met) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:25741868|PMID:28399683|PMID:28492532|PMID:29056246|PMID:31199083|PMID:35104249 10050224 CV191609 NM_172107.4(KCNQ2):c.1627G>A (p.Val543Met) variant DOID:630 genetic disease IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28399683|PMID:28492532|PMID:29056246|PMID:31199083|PMID:35104249 10050224 CV191609 NM_172107.4(KCNQ2):c.1627G>A (p.Val543Met) variant DOID:9000419 Benign Familial Neonatal Seizures, 1 IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Seizures, benign familial neonatal, 1 PMID:25741868|PMID:28399683|PMID:28492532|PMID:29056246|PMID:31199083|PMID:35104249 10050225 CV191611 NM_206933.4(USH2A):c.2992A>G (p.Arg998Gly) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868 10050226 CV191612 NM_182961.4(SYNE1):c.25617G>A (p.Glu8539=) variant DOID:0070249 autosomal dominant Emery-Dreifuss muscular dystrophy 4 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant PMID:26467025|PMID:28492532 10050226 CV191612 NM_182961.4(SYNE1):c.25617G>A (p.Glu8539=) variant DOID:0111618 autosomal recessive spinocerebellar ataxia 8 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 PMID:26467025|PMID:28492532 10050227 CV191613 NM_182961.4(SYNE1):c.25786A>G (p.Met8596Val) variant DOID:0111618 autosomal recessive spinocerebellar ataxia 8 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type PMID:25741868|PMID:28492532|PMID:28798025 10050228 CV191614 NM_182961.4(SYNE1):c.25751A>C (p.Asp8584Ala) variant DOID:0070249 autosomal dominant Emery-Dreifuss muscular dystrophy 4 IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES PMID:25741868|PMID:26302956|PMID:26467025|PMID:28492532 10050228 CV191614 NM_182961.4(SYNE1):c.25751A>C (p.Asp8584Ala) variant DOID:0111618 autosomal recessive spinocerebellar ataxia 8 IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 PMID:25741868|PMID:26302956|PMID:26467025|PMID:28492532 10050228 CV191614 NM_182961.4(SYNE1):c.25751A>C (p.Asp8584Ala) variant DOID:630 genetic disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26302956|PMID:26467025|PMID:28492532 10050229 CV191616 NM_001164508.2(NEB):c.25367C>T (p.Thr8456Met) variant DOID:0050557 congenital muscular dystrophy IAGP D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy PMID:25741868|PMID:28492532 10050229 CV191616 NM_001164508.2(NEB):c.25367C>T (p.Thr8456Met) variant DOID:0070336 arthrogryposis multiplex congenita-6 IAGP D RGD:8554872 20250821 ClinVar ClinVar Annotator: match by term: NEB-related disorder PMID:25741868|PMID:28492532 10050229 CV191616 NM_001164508.2(NEB):c.25367C>T (p.Thr8456Met) variant DOID:0110928 nemaline myopathy 2 IAGP D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Nemaline myopathy caused by mutation in the nebulin gene PMID:25741868|PMID:28492532 10050230 CV191617 NM_054012.4(ASS1):c.1134C>T (p.Asn378=) variant DOID:0070340 classic citrullinemia IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Citrullinemia type I PMID:28492532 10050230 CV191617 NM_054012.4(ASS1):c.1134C>T (p.Asn378=) variant DOID:9273 citrullinemia IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Citrullinemia PMID:28492532 10050232 CV191620 NM_000141.5(FGFR2):c.2040C>T (p.Tyr680=) variant DOID:2340 craniosynostosis IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: FGFR2-related craniosynostosis PMID:28492532 10050233 CV191621 NM_000152.5(GAA):c.2156C>A (p.Ala719Glu) variant DOID:2752 glycogen storage disease II IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type II PMID:25741868|PMID:28492532|PMID:29149851|PMID:30281819|PMID:33393119 10050233 CV191621 NM_000152.5(GAA):c.2156C>A (p.Ala719Glu) variant DOID:9001828 Cardiac Form of Generalized Glycogenosis IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Cardiomegalia glycogenica diffusa PMID:25741868|PMID:28492532|PMID:29149851|PMID:30281819|PMID:33393119 10050234 CV191622 NM_000152.5(GAA):c.2157G>A (p.Ala719=) variant DOID:2752 glycogen storage disease II IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type II PMID:25741868|PMID:28492532 10050234 CV191622 NM_000152.5(GAA):c.2157G>A (p.Ala719=) variant DOID:9001828 Cardiac Form of Generalized Glycogenosis IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomegalia glycogenica diffusa PMID:25741868|PMID:28492532 10050235 CV191627 NM_000180.4(GUCY2D):c.2921G>A (p.Arg974His) variant DOID:0111011 cone-rod dystrophy 6 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 6 PMID:28492532|PMID:32483926 10050236 CV191628 NM_000257.4(MYH7):c.1755C>T (p.Ile585=) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:20800588|PMID:24503780|PMID:25741868|PMID:28492532|PMID:33297573 10050236 CV191628 NM_000257.4(MYH7):c.1755C>T (p.Ile585=) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:20800588|PMID:24503780|PMID:25741868|PMID:28492532|PMID:33297573 10050237 CV191630 NM_000293.3(PHKB):c.1459-9G>T variant DOID:0111041 glycogen storage disease IXB IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXb PMID:25741868|PMID:28492532 10050238 CV191631 NM_000297.4(PKD2):c.2846C>G (p.Ser949Cys) variant DOID:0110859 polycystic kidney disease 2 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: PKD2-related condition PMID:28492532 10050238 CV191631 NM_000297.4(PKD2):c.2846C>G (p.Ser949Cys) variant DOID:898 autosomal dominant polycystic kidney disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:28492532 10050240 CV191635 NM_000426.4(LAMA2):c.2186G>T (p.Gly729Val) variant DOID:0110636 congenital merosin-deficient muscular dystrophy 1A IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Laminin alpha 2-related dystrophy PMID:28492532 10050241 CV191637 NM_201384.3(PLEC):c.1461G>A (p.Glu487=) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:28492532 10050242 CV191638 NM_201384.3(PLEC):c.1545C>T (p.Pro515=) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:25741868|PMID:28492532 10050243 CV191639 NM_002529.4(NTRK1):c.2057G>A (p.Arg686His) variant DOID:0070146 hereditary sensory neuropathy type 4 IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: HSAN 4 PMID:23799134|PMID:25741868|PMID:28492532 10050243 CV191639 NM_002529.4(NTRK1):c.2057G>A (p.Arg686His) variant DOID:630 genetic disease IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23799134|PMID:25741868|PMID:28492532 10050244 CV191640 NM_001042432.2(CLN3):c.1163C>T (p.Ala388Val) variant DOID:0110731 neuronal ceroid lipofuscinosis 3 IAGP D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 3 PMID:25741868|PMID:28492532 10050244 CV191640 NM_001042432.2(CLN3):c.1163C>T (p.Ala388Val) variant DOID:14503 neuronal ceroid lipofuscinosis IAGP D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:25741868|PMID:28492532 10050244 CV191640 NM_001042432.2(CLN3):c.1163C>T (p.Ala388Val) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10050246 CV191642 NM_001083962.2(TCF4):c.1245T>C (p.His415=) variant DOID:0060488 Pitt-Hopkins syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: MENTAL RETARDATION, SYNDROMAL, WITH INTERMITTENT HYPERVENTILATION PMID:28492532 10050246 CV191642 NM_001083962.2(TCF4):c.1245T>C (p.His415=) variant DOID:630 genetic disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10050246 CV191642 NM_001083962.2(TCF4):c.1245T>C (p.His415=) variant DOID:9008049 Corneal Dystrophy, Fuchs Endothelial, 3 IAGP D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: TCF4-related condition PMID:28492532 10050249 CV191645 NM_001111125.3(IQSEC2):c.4293C>T (p.Ile1431=) variant DOID:0112038 non-syndromic X-linked intellectual disability 1 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Mental retardation, X-linked 1 PMID:28492532 10050249 CV191645 NM_001111125.3(IQSEC2):c.4293C>T (p.Ile1431=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10050249 CV191645 NM_001111125.3(IQSEC2):c.4293C>T (p.Ile1431=) variant DOID:9004603 Atkin Syndrome IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Atkin Flaitz Patil Smith syndrome PMID:28492532 10050251 CV191647 NM_001330078.2(NRXN1):c.2567G>A (p.Arg856Gln) variant DOID:0111332 Pitt-Hopkins-like syndrome 2 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 PMID:28492532 10050252 CV191648 NM_001330078.2(NRXN1):c.2502A>G (p.Gln834=) variant DOID:0111332 Pitt-Hopkins-like syndrome 2 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 PMID:28492532 10050255 CV191653 NM_001277115.2(DNAH11):c.2682C>T (p.Leu894=) variant DOID:9562 primary ciliary dyskinesia IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 10050256 CV191654 NM_001297.5(CNGB1):c.1204G>A (p.Asp402Asn) variant DOID:0110402 retinitis pigmentosa 45 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 45 PMID:24938718|PMID:25741868|PMID:28492532 10050256 CV191654 NM_001297.5(CNGB1):c.1204G>A (p.Asp402Asn) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:24938718|PMID:25741868|PMID:28492532 10050256 CV191654 NM_001297.5(CNGB1):c.1204G>A (p.Asp402Asn) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:24938718|PMID:25741868|PMID:28492532 10050257 CV191656 NM_002180.3(IGHMBP2):c.2796C>T (p.Cys932=) variant DOID:0111064 autosomal recessive distal hereditary motor neuronopathy 1 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 1 PMID:28492532 10050258 CV191657 NM_002180.3(IGHMBP2):c.2922T>G (p.Asp974Glu) variant DOID:0110171 Charcot-Marie-Tooth disease axonal type 2S IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2S PMID:14681881|PMID:25741868|PMID:26392352|PMID:26467025|PMID:27727376|PMID:28492532 10050258 CV191657 NM_002180.3(IGHMBP2):c.2922T>G (p.Asp974Glu) variant DOID:0111064 autosomal recessive distal hereditary motor neuronopathy 1 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 1 PMID:14681881|PMID:25741868|PMID:26392352|PMID:26467025|PMID:27727376|PMID:28492532 10050258 CV191657 NM_002180.3(IGHMBP2):c.2922T>G (p.Asp974Glu) variant DOID:10595 Charcot-Marie-Tooth disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:14681881|PMID:25741868|PMID:26392352|PMID:26467025|PMID:27727376|PMID:28492532 10050258 CV191657 NM_002180.3(IGHMBP2):c.2922T>G (p.Asp974Glu) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:14681881|PMID:25741868|PMID:26392352|PMID:26467025|PMID:27727376|PMID:28492532 10050259 CV191658 NM_002180.3(IGHMBP2):c.2793C>T (p.Gly931=) variant DOID:0111064 autosomal recessive distal hereditary motor neuronopathy 1 IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy, distal, autosomal recessive, 1 PMID:25741868|PMID:28492532 10050259 CV191658 NM_002180.3(IGHMBP2):c.2793C>T (p.Gly931=) variant DOID:10595 Charcot-Marie-Tooth disease IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:25741868|PMID:28492532 10050260 CV191659 NM_002454.3(MTRR):c.2071C>T (p.Arg691Cys) variant DOID:0112255 homocystinuria-megaloblastic anemia cblE type IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type PMID:28492532 10050260 CV191659 NM_002454.3(MTRR):c.2071C>T (p.Arg691Cys) variant DOID:630 genetic disease IAGP D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10050261 CV191660 NM_002609.4(PDGFRB):c.2126G>A (p.Arg709His) variant DOID:0070666 infantile myofibromatosis 1 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Myofibromatosis, infantile, 1 PMID:25741868|PMID:28492532 10050261 CV191660 NM_002609.4(PDGFRB):c.2126G>A (p.Arg709His) variant DOID:0080109 infantile myofibromatosis IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Myofibromatosis, juvenile PMID:25741868|PMID:28492532 10050261 CV191660 NM_002609.4(PDGFRB):c.2126G>A (p.Arg709His) variant DOID:0111344 myeloproliferative disorder with eosinophilia IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: EOSINOPHILS, MALIGNANT PROLIFERATION OF PMID:25741868|PMID:28492532 10050261 CV191660 NM_002609.4(PDGFRB):c.2126G>A (p.Arg709His) variant DOID:9000858 Idiopathic Basal Ganglia Calcification 4 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 4 PMID:25741868|PMID:28492532 10050261 CV191660 NM_002609.4(PDGFRB):c.2126G>A (p.Arg709His) variant DOID:9002509 Kosaki Overgrowth Syndrome IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Kosaki overgrowth syndrome PMID:25741868|PMID:28492532 10050261 CV191660 NM_002609.4(PDGFRB):c.2126G>A (p.Arg709His) variant DOID:9004860 Penttinen-Aula Syndrome IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Premature aging syndrome, Penttinen type PMID:25741868|PMID:28492532 10050261 CV191660 NM_002609.4(PDGFRB):c.2126G>A (p.Arg709His) variant DOID:9007546 Idiopathic Basal Ganglia Calcification 1 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 3 PMID:25741868|PMID:28492532 10050262 CV191661 NM_001365536.1(SCN9A):c.2392A>G (p.Met798Val) variant DOID:0050548 hereditary sensory neuropathy IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE PMID:25741868|PMID:28492532 10050262 CV191661 NM_001365536.1(SCN9A):c.2392A>G (p.Met798Val) variant DOID:0070155 hereditary sensory and autonomic neuropathy type 2A IAGP D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIA PMID:25741868|PMID:28492532 10050262 CV191661 NM_001365536.1(SCN9A):c.2392A>G (p.Met798Val) variant DOID:0111295 generalized epilepsy with febrile seizures plus 7 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: GEFS+, TYPE 7 PMID:25741868|PMID:28492532 10050262 CV191661 NM_001365536.1(SCN9A):c.2392A>G (p.Met798Val) variant DOID:0111537 paroxysmal extreme pain disorder IAGP D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Paroxysmal extreme pain disorder PMID:25741868|PMID:28492532 10050262 CV191661 NM_001365536.1(SCN9A):c.2392A>G (p.Met798Val) variant DOID:9008324 Congenital Indifference to Pain, Autosomal Recessive IAGP D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Indifference to pain, congenital, autosomal recessive PMID:25741868|PMID:28492532 10050262 CV191661 NM_001365536.1(SCN9A):c.2392A>G (p.Met798Val) variant DOID:9008482 Congenital Pain Insensitivity IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Insensitivity to pain, channelopathy-associated PMID:25741868|PMID:28492532 10050262 CV191661 NM_001365536.1(SCN9A):c.2392A>G (p.Met798Val) variant DOID:9240 erythromelalgia IAGP D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Primary erythromelalgia PMID:25741868|PMID:28492532 10050263 CV191662 NM_001323289.2(CDKL5):c.2243A>G (p.Asn748Ser) variant DOID:0080467 developmental and epileptic encephalopathy 2 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2 PMID:25741868|PMID:28492532 10050265 CV191666 NM_001367721.1(CASK):c.1419A>G (p.Pro473=) variant DOID:0060807 syndromic X-linked intellectual disability Najm type IAGP D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked PMID:28492532 10050266 CV191669 NM_004239.4(TRIP11):c.5137G>C (p.Glu1713Gln) variant DOID:0080054 achondrogenesis type IA IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:25741868|PMID:28492532 10050266 CV191669 NM_004239.4(TRIP11):c.5137G>C (p.Glu1713Gln) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10050266 CV191669 NM_004239.4(TRIP11):c.5137G>C (p.Glu1713Gln) variant DOID:65 connective tissue disease IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 10050267 CV191671 NM_004260.4(RECQL4):c.2538A>G (p.Val846=) variant DOID:0050654 Baller-Gerold syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Baller-Gerold syndrome PMID:28492532 10050268 CV191672 NM_004380.3(CREBBP):c.2903T>C (p.Ile968Thr) variant DOID:1933 Rubinstein-Taybi syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:28492532 10050271 CV191676 NM_004519.4(KCNQ3):c.1994C>T (p.Ser665Leu) variant DOID:14264 benign neonatal seizures IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Benign neonatal seizures PMID:25741868|PMID:28492532 10050271 CV191676 NM_004519.4(KCNQ3):c.1994C>T (p.Ser665Leu) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10050271 CV191676 NM_004519.4(KCNQ3):c.1994C>T (p.Ser665Leu) variant DOID:9003109 Benign Familial Neonatal Seizures, 2 IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Benign familial neonatal seizures 2 PMID:25741868|PMID:28492532 10050272 CV191677 NM_004519.4(KCNQ3):c.2391C>T (p.His797=) variant DOID:14264 benign neonatal seizures IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Benign neonatal seizures PMID:28492532 10050273 CV191678 NM_133642.5(LARGE1):c.1976C>T (p.Pro659Leu) variant DOID:0110637 muscular dystrophy-dystroglycanopathy type B6 IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 PMID:28492532 10050274 CV191679 NM_133642.5(LARGE1):c.1977G>A (p.Pro659=) variant DOID:0110637 muscular dystrophy-dystroglycanopathy type B6 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 PMID:28492532 10050275 CV191680 NM_133642.5(LARGE1):c.1962G>A (p.Glu654=) variant DOID:0110637 muscular dystrophy-dystroglycanopathy type B6 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 PMID:28492532 10050275 CV191680 NM_133642.5(LARGE1):c.1962G>A (p.Glu654=) variant DOID:0111242 congenital muscular dystrophy-dystroglycanopathy type A6 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 PMID:28492532 10050276 CV191681 NM_005045.4(RELN):c.1817C>T (p.Thr606Ile) variant DOID:0060748 familial temporal lobe epilepsy 1 IAGP D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 PMID:25741868|PMID:28492532|PMID:29056246 10050276 CV191681 NM_005045.4(RELN):c.1817C>T (p.Thr606Ile) variant DOID:0060902 Norman-Roberts syndrome IAGP D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Norman-Roberts syndrome PMID:25741868|PMID:28492532|PMID:29056246 10050277 CV191682 NM_005334.3(HCFC1):c.2590G>A (p.Ala864Thr) variant DOID:0111814 methylmalonic acidemia and homocysteinemia cblX type IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Mental retardation 3, X-linked PMID:25741868|PMID:28492532 10050279 CV191685 NM_201525.4(ADGRG1):c.1983T>C (p.Gly661=) variant DOID:0080922 bilateral frontoparietal polymicrogyria IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Polymicrogyria, bilateral frontoparietal PMID:25741868|PMID:28492532 10050282 CV191688 NM_006949.4(STXBP2):c.1298C>T (p.Ala433Val) variant DOID:0110925 familial hemophagocytic lymphohistiocytosis 5 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 5 PMID:24033266|PMID:25741868|PMID:28492532 10050282 CV191688 NM_006949.4(STXBP2):c.1298C>T (p.Ala433Val) variant DOID:2935 Chediak-Higashi syndrome IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:24033266|PMID:25741868|PMID:28492532 10050283 CV191690 NM_007254.4(PNKP):c.1302C>T (p.Tyr434=) variant DOID:0080459 developmental and epileptic encephalopathy 12 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12 PMID:28492532 10050283 CV191690 NM_007254.4(PNKP):c.1302C>T (p.Tyr434=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10050284 CV191691 NM_012301.4(MAGI2):c.2454C>T (p.Arg818=) variant DOID:0080271 nephrotic syndrome type 15 IAGP D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: MAGI2-related condition PMID:28492532 10050285 CV191692 NM_014141.6(CNTNAP2):c.2369G>A (p.Arg790His) variant DOID:0090130 cortical dysplasia-focal epilepsy syndrome IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cortical dysplasia-focal epilepsy syndrome PMID:25741868|PMID:28492532 10050285 CV191692 NM_014141.6(CNTNAP2):c.2369G>A (p.Arg790His) variant DOID:630 genetic disease IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10050287 CV191695 NM_014141.6(CNTNAP2):c.2292C>T (p.His764=) variant DOID:0090130 cortical dysplasia-focal epilepsy syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 1 PMID:28492532 10050287 CV191695 NM_014141.6(CNTNAP2):c.2292C>T (p.His764=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10050290 CV191700 NM_014714.4(IFT140):c.1727G>A (p.Arg576Gln) variant DOID:0061111 retinitis pigmentosa 80 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 80 PMID:22503633|PMID:25741868|PMID:28492532|PMID:28512305 10050290 CV191700 NM_014714.4(IFT140):c.1727G>A (p.Arg576Gln) variant DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:22503633|PMID:25741868|PMID:28492532|PMID:28512305 10050291 CV191701 NM_014780.5(CUL7):c.2885G>A (p.Arg962Gln) variant DOID:9005349 Three M Syndrome 1 IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Three M syndrome 1 PMID:28492532 10050292 CV191702 NM_015102.5(NPHP4):c.1927A>G (p.Met643Val) variant DOID:0111115 nephronophthisis 4 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Nephronophthisis 4 PMID:25741868 10050293 CV191705 NM_015272.5(RPGRIP1L):c.1812A>G (p.Glu604=) variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 10050293 CV191705 NM_015272.5(RPGRIP1L):c.1812A>G (p.Glu604=) variant DOID:0050778 Meckel syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:28492532 10050293 CV191705 NM_015272.5(RPGRIP1L):c.1812A>G (p.Glu604=) variant DOID:0070115 Meckel syndrome 1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Dysencephalia splachnocystica PMID:28492532 10050293 CV191705 NM_015272.5(RPGRIP1L):c.1812A>G (p.Glu604=) variant DOID:0110980 Joubert syndrome 1 IAGP D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:28492532 10050294 CV191706 NM_015346.4(ZFYVE26):c.2742C>T (p.Ser914=) variant DOID:607 paraplegia IAGP D RGD:8554872 20201015 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 10050295 CV191707 NM_001278431.2(C1QTNF5):c.294C>T (p.Cys98=) variant DOID:0060837 isolated microphthalmia 5 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Microphthalmia, isolated 5 PMID:28492532 10050295 CV191707 NM_001278431.2(C1QTNF5):c.294C>T (p.Cys98=) variant DOID:0060869 late-onset retinal degeneration IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Late-onset retinal degeneration PMID:28492532 10050297 CV191710 NM_017780.4(CHD7):c.3712G>A (p.Val1238Ile) variant DOID:0050834 CHARGE syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: CHARGE association PMID:25741868|PMID:28492532 10050298 CV191711 NM_152564.5(VPS13B):c.2056C>T (p.Arg686Trp) variant DOID:0111590 Cohen syndrome IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:25741868|PMID:28492532 10050298 CV191711 NM_152564.5(VPS13B):c.2056C>T (p.Arg686Trp) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10050298 CV191711 NM_152564.5(VPS13B):c.2056C>T (p.Arg686Trp) variant DOID:9001162 Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness PMID:25741868|PMID:28492532 10050299 CV191712 NM_152564.5(VPS13B):c.2075G>A (p.Arg692Gln) variant DOID:0111590 Cohen syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:25741868|PMID:28492532 10050299 CV191712 NM_152564.5(VPS13B):c.2075G>A (p.Arg692Gln) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10050299 CV191712 NM_152564.5(VPS13B):c.2075G>A (p.Arg692Gln) variant DOID:9001162 Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness PMID:25741868|PMID:28492532 10050301 CV191714 NM_019098.5(CNGB3):c.1688T>C (p.Ile563Thr) variant DOID:630 genetic disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10050302 CV191715 NM_020166.5(MCCC1):c.1700C>T (p.Thr567Met) variant DOID:0080579 3-methylcrotonyl-CoA carboxylase 1 deficiency IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: 3-methylcrotonyl-CoA carboxylase 1 deficiency PMID:28492532 10050303 CV191716 NM_020631.6(PLEKHG5):c.1616C>T (p.Ala539Val) variant DOID:0111213 autosomal recessive distal hereditary motor neuronopathy 4 IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 4 PMID:25741868|PMID:28492532 10050303 CV191716 NM_020631.6(PLEKHG5):c.1616C>T (p.Ala539Val) variant DOID:630 genetic disease IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10050304 CV191717 NM_020631.6(PLEKHG5):c.1572C>T (p.His524=) variant DOID:0111213 autosomal recessive distal hereditary motor neuronopathy 4 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 4 PMID:28492532 10050304 CV191717 NM_020631.6(PLEKHG5):c.1572C>T (p.His524=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10050305 CV191718 NM_001040142.2(SCN2A):c.2558G>A (p.Arg853Gln) variant DOID:0050562 West syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: West syndrome PMID:23934111|PMID:23935176|PMID:25326637|PMID:25741868|PMID:25772804|PMID:26467025|PMID:28379373|PMID:28492532|PMID:28628100|PMID:28708303|PMID:29186148|PMID:29844171|PMID:31558572|PMID:32860008 10050305 CV191718 NM_001040142.2(SCN2A):c.2558G>A (p.Arg853Gln) variant DOID:0080421 developmental and epileptic encephalopathy 11 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11 PMID:23934111|PMID:23935176|PMID:25326637|PMID:25741868|PMID:25772804|PMID:26467025|PMID:28379373|PMID:28492532|PMID:28628100|PMID:28708303|PMID:29186148|PMID:29844171|PMID:31558572|PMID:32860008 10050305 CV191718 NM_001040142.2(SCN2A):c.2558G>A (p.Arg853Gln) variant DOID:0081116 benign familial infantile seizures 3 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 PMID:23934111|PMID:23935176|PMID:25326637|PMID:25741868|PMID:25772804|PMID:26467025|PMID:28379373|PMID:28492532|PMID:28628100|PMID:28708303|PMID:29186148|PMID:29844171|PMID:31558572|PMID:32860008 10050306 CV191719 NM_022132.5(MCCC2):c.1441G>A (p.Val481Met) variant DOID:0050710 3-methylcrotonyl-CoA carboxylase deficiency IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Methylcrotonyl-CoA carboxylase deficiency PMID:25741868|PMID:28492532 10050306 CV191719 NM_022132.5(MCCC2):c.1441G>A (p.Val481Met) variant DOID:0080580 3-methylcrotonyl-CoA carboxylase 2 deficiency IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: 3-methylcrotonyl-CoA carboxylase 2 deficiency PMID:25741868|PMID:28492532 10050307 CV191720 NM_022356.4(P3H1):c.2152C>G (p.Pro718Ala) variant DOID:0110336 osteogenesis imperfecta type 8 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: OI type VIII PMID:28492532 10050307 CV191720 NM_022356.4(P3H1):c.2152C>G (p.Pro718Ala) variant DOID:12347 osteogenesis imperfecta IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive PMID:28492532 10050308 CV191721 NM_022356.4(P3H1):c.2148= (p.Gly716=) variant DOID:0110336 osteogenesis imperfecta type 8 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 8 PMID:25741868|PMID:28492532 10050310 CV191724 NM_001384732.1(CPLANE1):c.2624C>T (p.Ser875Phe) variant DOID:0110986 Joubert Syndrome 17 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Joubert syndrome 17 PMID:25741868|PMID:25920555|PMID:28497568|PMID:29321670|PMID:29605658 10050311 CV191725 NM_025114.4(CEP290):c.1384G>A (p.Val462Ile) variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:25741868|PMID:28492532 10050311 CV191725 NM_025114.4(CEP290):c.1384G>A (p.Val462Ile) variant DOID:0070118 Meckel syndrome 4 IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 4 PMID:25741868|PMID:28492532 10050311 CV191725 NM_025114.4(CEP290):c.1384G>A (p.Val462Ile) variant DOID:0110291 Leber congenital amaurosis 10 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 10 PMID:25741868|PMID:28492532 10050311 CV191725 NM_025114.4(CEP290):c.1384G>A (p.Val462Ile) variant DOID:630 genetic disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10050312 CV191727 NM_031471.6(FERMT3):c.1893C>T (p.Ile631=) variant DOID:0110912 leukocyte adhesion deficiency 3 IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency, type III PMID:28492532 10050313 CV191731 NM_053025.4(MYLK):c.2120A>G (p.Gln707Arg) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:28492532 10050313 CV191731 NM_053025.4(MYLK):c.2120A>G (p.Gln707Arg) variant DOID:9006750 Familial Thoracic Aortic Aneurysm 7 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: AORTIC DISSECTION, FAMILIAL, WITH OR WITHOUT AORTIC ANEURYSM PMID:28492532 10050314 CV191732 NM_178170.3(NEK8):c.2052G>A (p.Ser684=) variant DOID:0111120 nephronophthisis 9 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Nephronophthisis 9 PMID:25741868|PMID:28492532 10050315 CV191733 NM_182943.3(PLOD2):c.1639T>C (p.Tyr547His) variant DOID:9002665 Bruck Syndrome 2 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: PLOD2-related condition PMID:28492532 10050317 CV191735 NM_198525.3(KIF7):c.2981A>G (p.Gln994Arg) variant DOID:1059 intellectual disability IAGP D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:21552264|PMID:25741868|PMID:26092869|PMID:28492532 10050317 CV191735 NM_198525.3(KIF7):c.2981A>G (p.Gln994Arg) variant DOID:9250 acrocallosal syndrome IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Acrocallosal syndrome, Schinzel type PMID:21552264|PMID:25741868|PMID:26092869|PMID:28492532 10050321 CV191743 NM_001267550.2(TTN):c.36776C>T (p.Ala12259Val) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Early-onset myopathy with fatal cardiomyopathy PMID:25741868|PMID:26467025|PMID:34731013 10050321 CV191743 NM_001267550.2(TTN):c.36776C>T (p.Ala12259Val) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:25741868|PMID:26467025|PMID:34731013 10050321 CV191743 NM_001267550.2(TTN):c.36776C>T (p.Ala12259Val) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:25741868|PMID:26467025|PMID:34731013 10050321 CV191743 NM_001267550.2(TTN):c.36776C>T (p.Ala12259Val) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:25741868|PMID:26467025|PMID:34731013 10050321 CV191743 NM_001267550.2(TTN):c.36776C>T (p.Ala12259Val) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:25741868|PMID:26467025|PMID:34731013 10050323 CV191745 NM_001267550.2(TTN):c.39289C>G (p.Pro13097Ala) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:25741868 10050324 CV191746 NM_000036.3(AMPD1):c.2173A>G (p.Met725Val) variant DOID:9008558 MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscle AMP deaminase deficiency PMID:28492532 10050326 CV191751 NM_000071.3(CBS):c.1527C>T (p.Ala509=) variant DOID:9263 homocystinuria IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:28492532 10050327 CV191753 NM_000124.4(ERCC6):c.2924G>A (p.Arg975Gln) variant DOID:0080910 cerebrooculofacioskeletal syndrome IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: COFS syndrome PMID:25741868|PMID:28492532 10050327 CV191753 NM_000124.4(ERCC6):c.2924G>A (p.Arg975Gln) variant DOID:0080911 cerebrooculofacioskeletal syndrome 1 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: PENA-SHOKEIR SYNDROME, TYPE II PMID:25741868|PMID:28492532 10050327 CV191753 NM_000124.4(ERCC6):c.2924G>A (p.Arg975Gln) variant DOID:2962 Cockayne syndrome IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Cockayne syndrome PMID:25741868|PMID:28492532 10050327 CV191753 NM_000124.4(ERCC6):c.2924G>A (p.Arg975Gln) variant DOID:4448 macular degeneration IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Macular degeneration PMID:25741868|PMID:28492532 10050328 CV191754 NM_000141.5(FGFR2):c.2106G>A (p.Ser702=) variant DOID:2340 craniosynostosis IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: FGFR2-related craniosynostosis PMID:28492532 10050331 CV191760 NM_001278116.2(L1CAM):c.1993C>G (p.Leu665Val) variant DOID:607 paraplegia IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 10050331 CV191760 NM_001278116.2(L1CAM):c.1993C>G (p.Leu665Val) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10050332 CV191761 NM_001278116.2(L1CAM):c.1962C>T (p.Asp654=) variant DOID:607 paraplegia IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 10050333 CV191762 NM_000426.4(LAMA2):c.2289G>A (p.Ala763=) variant DOID:0110636 congenital merosin-deficient muscular dystrophy 1A IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Laminin alpha 2-related dystrophy PMID:28492532 10050335 CV191764 NM_000441.2(SLC26A4):c.1730T>C (p.Val577Ala) variant DOID:0060744 Pendred syndrome IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Pendred syndrome PMID:25741868|PMID:29293505|PMID:29320412|PMID:34680964 10050335 CV191764 NM_000441.2(SLC26A4):c.1730T>C (p.Val577Ala) variant DOID:0110498 autosomal recessive nonsyndromic deafness 4 IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct PMID:25741868|PMID:29293505|PMID:29320412|PMID:34680964 10050335 CV191764 NM_000441.2(SLC26A4):c.1730T>C (p.Val577Ala) variant DOID:9004538 Hearing Loss IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:25741868|PMID:29293505|PMID:29320412|PMID:34680964 10050336 CV191765 NM_201384.3(PLEC):c.1771C>T (p.Arg591Cys) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy PMID:25741868|PMID:28492532 10050337 CV191767 NM_000466.3(PEX1):c.2645C>T (p.Pro882Leu) variant DOID:905 Zellweger syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Zellweger Spectrum PMID:28492532 10050338 CV191768 NM_000541.5(SAG):c.1132G>A (p.Val378Ile) variant DOID:0110369 retinitis pigmentosa 47 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 47 PMID:18175313|PMID:25741868|PMID:28492532|PMID:9501883 10050338 CV191768 NM_000541.5(SAG):c.1132G>A (p.Val378Ile) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:18175313|PMID:25741868|PMID:28492532|PMID:9501883 10050338 CV191768 NM_000541.5(SAG):c.1132G>A (p.Val378Ile) variant DOID:8498 hereditary night blindness IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Oguchi disease PMID:18175313|PMID:25741868|PMID:28492532|PMID:9501883 10050338 CV191768 NM_000541.5(SAG):c.1132G>A (p.Val378Ile) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:18175313|PMID:25741868|PMID:28492532|PMID:9501883 10050342 CV191774 NM_000883.4(IMPDH1):c.1714G>C (p.Glu572Gln) variant DOID:0110216 Leber congenital amaurosis 11 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 11 PMID:25741868|PMID:28492532 10050342 CV191774 NM_000883.4(IMPDH1):c.1714G>C (p.Glu572Gln) variant DOID:0110388 retinitis pigmentosa 10 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 10 PMID:25741868|PMID:28492532 10050342 CV191774 NM_000883.4(IMPDH1):c.1714G>C (p.Glu572Gln) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532 10050342 CV191774 NM_000883.4(IMPDH1):c.1714G>C (p.Glu572Gln) variant DOID:630 genetic disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10050343 CV191777 NM_001351132.2(PEX5):c.1814G>A (p.Ser605Asn) variant DOID:0080477 peroxisome biogenesis disorder 2A IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2A (Zellweger) PMID:25741868|PMID:28492532 10050343 CV191777 NM_001351132.2(PEX5):c.1814G>A (p.Ser605Asn) variant DOID:0080622 peroxisome biogenesis disorder 2B IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B PMID:25741868|PMID:28492532 10050343 CV191777 NM_001351132.2(PEX5):c.1814G>A (p.Ser605Asn) variant DOID:0110854 rhizomelic chondrodysplasia punctata type 5 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata type 5 PMID:25741868|PMID:28492532 10050343 CV191777 NM_001351132.2(PEX5):c.1814G>A (p.Ser605Asn) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10050343 CV191777 NM_001351132.2(PEX5):c.1814G>A (p.Ser605Asn) variant DOID:9003063 Cerebrohepatorenal Syndrome, Variant Types IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Cerebrohepatorenal syndrome, variant types PMID:25741868|PMID:28492532 10050343 CV191777 NM_001351132.2(PEX5):c.1814G>A (p.Ser605Asn) variant DOID:905 Zellweger syndrome IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Cerebrohepatorenal syndrome PMID:25741868|PMID:28492532 10050344 CV191779 NM_001165963.4(SCN1A):c.3176A>T (p.Asp1059Val) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:25741868|PMID:28492532 10050345 CV191780 NM_001165963.4(SCN1A):c.3060C>A (p.His1020Gln) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:26467025|PMID:28492532 10050347 CV191784 NM_001849.4(COL6A2):c.1336G>A (p.Asp446Asn) variant DOID:0050663 Bethlem myopathy IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Myopathy, benign congenital, with contractures PMID:20301676|PMID:25741868|PMID:27854218|PMID:28492532 10050347 CV191784 NM_001849.4(COL6A2):c.1336G>A (p.Asp446Asn) variant DOID:0060946 Ullrich congenital muscular dystrophy 1A IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1A PMID:20301676|PMID:25741868|PMID:27854218|PMID:28492532 10050347 CV191784 NM_001849.4(COL6A2):c.1336G>A (p.Asp446Asn) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:20301676|PMID:25741868|PMID:27854218|PMID:28492532 10050347 CV191784 NM_001849.4(COL6A2):c.1336G>A (p.Asp446Asn) variant DOID:630 genetic disease IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20301676|PMID:25741868|PMID:27854218|PMID:28492532 10050347 CV191784 NM_001849.4(COL6A2):c.1336G>A (p.Asp446Asn) variant DOID:9007626 Myosclerosis, Autosomal Recessive IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Myosclerosis PMID:20301676|PMID:25741868|PMID:27854218|PMID:28492532 10050348 CV191785 NM_001849.4(COL6A2):c.1333-10C>G variant DOID:0050663 Bethlem myopathy IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Myopathy, benign congenital, with contractures PMID:28492532 10050348 CV191785 NM_001849.4(COL6A2):c.1333-10C>G variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:28492532 10050348 CV191785 NM_001849.4(COL6A2):c.1333-10C>G variant DOID:9007626 Myosclerosis, Autosomal Recessive IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Myosclerosis PMID:28492532 10050350 CV191787 NM_001127671.2(LIFR):c.2302A>G (p.Arg768Gly) variant DOID:65 connective tissue disease IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 10050350 CV191787 NM_001127671.2(LIFR):c.2302A>G (p.Arg768Gly) variant DOID:9004577 Stuve-Wiedemann Syndrome IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Stuve-Wiedemann syndrome PMID:25741868|PMID:28492532 10050350 CV191787 NM_001127671.2(LIFR):c.2302A>G (p.Arg768Gly) variant DOID:9008909 Stuve-Wiedemann Syndrome 1 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Stüve-Wiedemann syndrome 1 PMID:25741868|PMID:28492532 10050352 CV191791 NM_001048166.1(STIL):c.2906A>G (p.His969Arg) variant DOID:0070278 primary autosomal recessive microcephaly 7 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary autosomal recessive microcephaly 7 PMID:25741868|PMID:28492532 10050353 CV191795 NM_003611.3(OFD1):c.2168C>T (p.Ser723Leu) variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 10050353 CV191795 NM_003611.3(OFD1):c.2168C>T (p.Ser723Leu) variant DOID:9562 primary ciliary dyskinesia IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 10050354 CV191796 NM_003640.5(ELP1):c.1814A>G (p.Tyr605Cys) variant DOID:0050902 medulloblastoma IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Medulloblastoma PMID:25741868|PMID:28492532 10050354 CV191796 NM_003640.5(ELP1):c.1814A>G (p.Tyr605Cys) variant DOID:11589 Riley-Day syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial dysautonomia PMID:25741868|PMID:28492532 10050356 CV191800 NM_004380.3(CREBBP):c.3158C>T (p.Pro1053Leu) variant DOID:1933 Rubinstein-Taybi syndrome IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:25741868|PMID:28492532 10050356 CV191800 NM_004380.3(CREBBP):c.3158C>T (p.Pro1053Leu) variant DOID:630 genetic disease IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10050357 CV191801 NM_004380.3(CREBBP):c.3089C>T (p.Ser1030Phe) variant DOID:1933 Rubinstein-Taybi syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:28492532 10050357 CV191801 NM_004380.3(CREBBP):c.3089C>T (p.Ser1030Phe) variant DOID:630 genetic disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10050358 CV191802 NM_005219.5(DIAPH1):c.1736G>A (p.Arg579His) variant DOID:0110541 autosomal dominant nonsyndromic deafness 1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: KONIGSMARK SYNDROME PMID:24033266|PMID:28492532 10050358 CV191802 NM_005219.5(DIAPH1):c.1736G>A (p.Arg579His) variant DOID:9005489 Seizures, Cortical Blindness, and Microcephaly Syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome PMID:24033266|PMID:28492532 10050360 CV191810 NM_012301.4(MAGI2):c.2830T>C (p.Ser944Pro) variant DOID:0080271 nephrotic syndrome type 15 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome 15 PMID:25741868|PMID:28492532 10050361 CV191811 NM_013382.7(POMT2):c.1701C>G (p.Pro567=) variant DOID:0110298 autosomal recessive limb-girdle muscular dystrophy type 2N IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 PMID:26467025|PMID:28492532 10050361 CV191811 NM_013382.7(POMT2):c.1701C>G (p.Pro567=) variant DOID:0111240 congenital muscular dystrophy-dystroglycanopathy type A2 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 PMID:26467025|PMID:28492532 10050363 CV191813 NM_014141.6(CNTNAP2):c.2424C>T (p.Ser808=) variant DOID:0090130 cortical dysplasia-focal epilepsy syndrome IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cortical dysplasia-focal epilepsy syndrome PMID:28492532 10050364 CV191814 NM_014141.6(CNTNAP2):c.2460C>A (p.Ser820Arg) variant DOID:0090130 cortical dysplasia-focal epilepsy syndrome IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 1 PMID:28492532 10050365 CV191815 NM_014425.5(INVS):c.3080G>A (p.Arg1027His) variant DOID:12712 nephronophthisis IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:28492532 10050369 CV191821 NM_014989.7(RIMS1):c.2699-8T>C variant DOID:0111012 cone-rod dystrophy 7 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 7 PMID:28492532 10050370 CV191822 NM_015102.5(NPHP4):c.1966G>A (p.Asp656Asn) variant DOID:0111115 nephronophthisis 4 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Nephronophthisis 4 PMID:25741868|PMID:28492532 10050370 CV191822 NM_015102.5(NPHP4):c.1966G>A (p.Asp656Asn) variant DOID:12712 nephronophthisis IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:25741868|PMID:28492532 10050370 CV191822 NM_015102.5(NPHP4):c.1966G>A (p.Asp656Asn) variant DOID:9000511 Senior-Loken Syndrome 4 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 4 PMID:25741868|PMID:28492532 10050371 CV191823 NM_001378454.1(ALMS1):c.11017C>A (p.Leu3673Ile) variant DOID:0050473 Alstrom syndrome IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Alstrom's syndrome PMID:28492532|PMID:36413997 10050372 CV191824 NM_015192.4(PLCB1):c.1678+10C>T variant DOID:0080459 developmental and epileptic encephalopathy 12 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12 PMID:28492532 10050374 CV191827 NM_001134831.2(AHI1):c.2282C>T (p.Ser761Leu) variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:16453322|PMID:25616960|PMID:25741868|PMID:28492532 10050374 CV191827 NM_001134831.2(AHI1):c.2282C>T (p.Ser761Leu) variant DOID:0110998 Joubert syndrome 3 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Joubert syndrome 3 PMID:16453322|PMID:25616960|PMID:25741868|PMID:28492532 10050375 CV191828 NM_017780.4(CHD7):c.3973T>C (p.Tyr1325His) variant DOID:0050834 CHARGE syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: CHD7-related condition PMID:28492532 10050375 CV191828 NM_017780.4(CHD7):c.3973T>C (p.Tyr1325His) variant DOID:0090084 hypogonadotropic hypogonadism 5 with or without anosmia IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 5 with or without anosmia PMID:28492532 10050375 CV191828 NM_017780.4(CHD7):c.3973T>C (p.Tyr1325His) variant DOID:630 genetic disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10050375 CV191828 NM_017780.4(CHD7):c.3973T>C (p.Tyr1325His) variant DOID:9004226 Hittner Hirsch Kreh Syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome PMID:28492532 10050376 CV191830 NM_018979.4(WNK1):c.3578G>A (p.Ser1193Asn) variant DOID:0050548 hereditary sensory neuropathy IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE PMID:25741868|PMID:28492532 10050376 CV191830 NM_018979.4(WNK1):c.3578G>A (p.Ser1193Asn) variant DOID:0070155 hereditary sensory and autonomic neuropathy type 2A IAGP D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A PMID:25741868|PMID:28492532 10050376 CV191830 NM_018979.4(WNK1):c.3578G>A (p.Ser1193Asn) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10050376 CV191830 NM_018979.4(WNK1):c.3578G>A (p.Ser1193Asn) variant DOID:9006034 Pseudohypoaldosteronism, Type IIC IAGP D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Pseudohypoaldosteronism type 2C PMID:25741868|PMID:28492532 10050378 CV191832 NM_020631.6(PLEKHG5):c.1729G>A (p.Ala577Thr) variant DOID:0111213 autosomal recessive distal hereditary motor neuronopathy 4 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 4 PMID:25741868|PMID:28492532 10050379 CV191833 NM_020800.3(IFT80):c.1825C>T (p.Arg609Cys) variant DOID:0110086 asphyxiating thoracic dystrophy 2 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 2 PMID:25741868 10050379 CV191833 NM_020800.3(IFT80):c.1825C>T (p.Arg609Cys) variant DOID:630 genetic disease IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 10050380 CV191834 NM_022124.6(CDH23):c.1595C>T (p.Thr532Met) variant DOID:0050439 Usher syndrome IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness PMID:22135276|PMID:24033266|PMID:25741868|PMID:26969326|PMID:28492532|PMID:29148562|PMID:34426522 10050380 CV191834 NM_022124.6(CDH23):c.1595C>T (p.Thr532Met) variant DOID:0110467 autosomal recessive nonsyndromic deafness 12 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 12 PMID:22135276|PMID:24033266|PMID:25741868|PMID:26969326|PMID:28492532|PMID:29148562|PMID:34426522 10050380 CV191834 NM_022124.6(CDH23):c.1595C>T (p.Thr532Met) variant DOID:0110826 Usher syndrome type 1 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1 PMID:22135276|PMID:24033266|PMID:25741868|PMID:26969326|PMID:28492532|PMID:29148562|PMID:34426522 10050380 CV191834 NM_022124.6(CDH23):c.1595C>T (p.Thr532Met) variant DOID:0110831 Usher syndrome type 1D IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1D PMID:22135276|PMID:24033266|PMID:25741868|PMID:26969326|PMID:28492532|PMID:29148562|PMID:34426522 10050380 CV191834 NM_022124.6(CDH23):c.1595C>T (p.Thr532Met) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:22135276|PMID:24033266|PMID:25741868|PMID:26969326|PMID:28492532|PMID:29148562|PMID:34426522 10050382 CV191838 NM_024753.5(TTC21B):c.2168G>A (p.Arg723Gln) variant DOID:0050592 asphyxiating thoracic dystrophy IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:25741868|PMID:28492532 10050382 CV191838 NM_024753.5(TTC21B):c.2168G>A (p.Arg723Gln) variant DOID:0110088 asphyxiating thoracic dystrophy 4 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 4 PMID:25741868|PMID:28492532 10050385 CV191842 NM_001267550.2(TTN):c.2589T>C (p.Thr863=) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:28492532 10050385 CV191842 NM_001267550.2(TTN):c.2589T>C (p.Thr863=) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:28492532 10050386 CV191844 NM_153240.5(NPHP3):c.2172-4A>G variant DOID:0070121 Meckel syndrome 7 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Meckel syndrome type 7 PMID:25741868|PMID:28492532 10050386 CV191844 NM_153240.5(NPHP3):c.2172-4A>G variant DOID:0111112 nephronophthisis 1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:25741868|PMID:28492532 10050386 CV191844 NM_153240.5(NPHP3):c.2172-4A>G variant DOID:0111114 nephronophthisis 3 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Adolescent nephronophthisis PMID:25741868|PMID:28492532 10050386 CV191844 NM_153240.5(NPHP3):c.2172-4A>G variant DOID:12712 nephronophthisis IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:25741868|PMID:28492532 10050386 CV191844 NM_153240.5(NPHP3):c.2172-4A>G variant DOID:9001991 Renal-Hepatic-Pancreatic Dysplasia 1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Renal-hepatic-pancreatic dysplasia 1 PMID:25741868|PMID:28492532 10050387 CV191845 NM_153717.3(EVC):c.2322G>C (p.Ala774=) variant DOID:0111571 Weyers acrofacial dysostosis IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: WEYERS ACRODENTAL DYSOSTOSIS PMID:25741868|PMID:28492532 10050387 CV191845 NM_153717.3(EVC):c.2322G>C (p.Ala774=) variant DOID:12714 Ellis-Van Creveld syndrome IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:25741868|PMID:28492532 10050388 CV191846 NM_153717.3(EVC):c.2305-6C>T variant DOID:12714 Ellis-Van Creveld syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:28492532 10050389 CV191849 NM_198525.3(KIF7):c.3211C>T (p.Arg1071Trp) variant DOID:9250 acrocallosal syndrome IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acrocallosal syndrome PMID:28492532 10050390 CV191850 NM_213599.3(ANO5):c.1800+5G>A variant DOID:0110284 autosomal recessive limb-girdle muscular dystrophy type 2L IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2L PMID:17576681|PMID:28492532|PMID:9536098 10050390 CV191850 NM_213599.3(ANO5):c.1800+5G>A variant DOID:0111533 gnathodiaphyseal dysplasia IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Gnathodiaphyseal dysplasia PMID:17576681|PMID:28492532|PMID:9536098 10050392 CV191853 NM_000057.4(BLM):c.3211G>T (p.Asp1071Tyr) variant DOID:2717 Bloom syndrome IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bloom syndrome PMID:28492532 10050392 CV191853 NM_000057.4(BLM):c.3211G>T (p.Asp1071Tyr) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:28492532 10050393 CV191855 NM_000071.3(CBS):c.*10C>A variant DOID:9263 homocystinuria IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Cystathionine beta-synthase deficiency PMID:24033266|PMID:25741868 10050394 CV191856 NM_000089.4(COL1A2):c.880G>A (p.Val294Ile) variant DOID:0110334 osteogenesis imperfecta type 1 IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type I PMID:25741868|PMID:28492532 10050394 CV191856 NM_000089.4(COL1A2):c.880G>A (p.Val294Ile) variant DOID:13359 Ehlers-Danlos syndrome IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:25741868|PMID:28492532 10050395 CV191858 NM_000124.4(ERCC6):c.3061A>G (p.Ile1021Val) variant DOID:0080868 primary ovarian insufficiency 11 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 11 PMID:25741868|PMID:28492532 10050395 CV191858 NM_000124.4(ERCC6):c.3061A>G (p.Ile1021Val) variant DOID:0080908 Cockayne syndrome B IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Cockayne syndrome B PMID:25741868|PMID:28492532 10050395 CV191858 NM_000124.4(ERCC6):c.3061A>G (p.Ile1021Val) variant DOID:0080911 cerebrooculofacioskeletal syndrome 1 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Cerebrooculofacioskeletal syndrome 1 PMID:25741868|PMID:28492532 10050395 CV191858 NM_000124.4(ERCC6):c.3061A>G (p.Ile1021Val) variant DOID:0110028 age related macular degeneration 5 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Age-related macular degeneration 5 PMID:25741868|PMID:28492532 10050395 CV191858 NM_000124.4(ERCC6):c.3061A>G (p.Ile1021Val) variant DOID:0112158 De Sanctis-Cacchione syndrome IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: DE SANCTIS-CACCHIONE SYNDROME PMID:25741868|PMID:28492532 10050395 CV191858 NM_000124.4(ERCC6):c.3061A>G (p.Ile1021Val) variant DOID:1324 lung cancer IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Lung cancer, somatic PMID:25741868|PMID:28492532 10050395 CV191858 NM_000124.4(ERCC6):c.3061A>G (p.Ile1021Val) variant DOID:9006274 UV-Sensitive Syndrome 1 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: UV-sensitive syndrome 1 PMID:25741868|PMID:28492532 10050396 CV191860 NM_000152.5(GAA):c.2415G>A (p.Val805=) variant DOID:2752 glycogen storage disease II IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type II PMID:25741868|PMID:28492532 10050396 CV191860 NM_000152.5(GAA):c.2415G>A (p.Val805=) variant DOID:9001828 Cardiac Form of Generalized Glycogenosis IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomegalia glycogenica diffusa PMID:25741868|PMID:28492532 10050397 CV191861 NM_000153.4(GALC):c.1912G>A (p.Gly638Ser) variant DOID:10587 Krabbe disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency PMID:22115770|PMID:23197103|PMID:28492532|PMID:31350907 10050398 CV191862 NM_000180.4(GUCY2D):c.3098C>T (p.Ser1033Leu) variant DOID:0110078 Leber congenital amaurosis 1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: AMAUROSIS CONGENITA OF LEBER I PMID:28492532 10050398 CV191862 NM_000180.4(GUCY2D):c.3098C>T (p.Ser1033Leu) variant DOID:0111011 cone-rod dystrophy 6 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Retinal cone dystrophy 2 PMID:28492532 10050398 CV191862 NM_000180.4(GUCY2D):c.3098C>T (p.Ser1033Leu) variant DOID:14791 Leber congenital amaurosis IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Retinal blindness, congenital PMID:28492532 10050399 CV191865 NM_000208.4(INSR):c.3193C>G (p.Leu1065Val) variant DOID:0050470 Donohue syndrome IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Leprechaunism syndrome PMID:25741868 10050399 CV191865 NM_000208.4(INSR):c.3193C>G (p.Leu1065Val) variant DOID:0070215 familial hyperinsulinemic hypoglycemia 4 IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Hyperinsulinism due to glutamodehydrogenase deficiency PMID:25741868 10050399 CV191865 NM_000208.4(INSR):c.3193C>G (p.Leu1065Val) variant DOID:0070220 familial hyperinsulinemic hypoglycemia 5 IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia familial 5 PMID:25741868 10050399 CV191865 NM_000208.4(INSR):c.3193C>G (p.Leu1065Val) variant DOID:9001751 Insulin-Resistant Diabetes Mellitus, with Acanthosis Nigricans IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: IRAN, TYPE A PMID:25741868 10050399 CV191865 NM_000208.4(INSR):c.3193C>G (p.Leu1065Val) variant DOID:9001863 PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Pineal hyperplasia AND diabetes mellitus syndrome PMID:25741868 10050399 CV191865 NM_000208.4(INSR):c.3193C>G (p.Leu1065Val) variant DOID:9007692 Insulin Resistance IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Insulin-resistance syndrome type A PMID:25741868 10050400 CV191866 NM_000260.4(MYO7A):c.2025C>T (p.Arg675=) variant DOID:0070655 Usher syndrome type 1B IAGP D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Usher syndrome, type 1B PMID:28492532 10050401 CV191870 NM_000426.4(LAMA2):c.2382C>T (p.Gly794=) variant DOID:0110636 congenital merosin-deficient muscular dystrophy 1A IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Laminin alpha 2-related dystrophy PMID:28492532 10050402 CV191872 NM_000443.4(ABCB4):c.2177C>T (p.Pro726Leu) variant DOID:0070223 progressive familial intrahepatic cholestasis 3 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Low Gamma-GT Familial Intrahepatic Cholestasis PMID:20422496|PMID:23533021|PMID:24806754|PMID:25741868|PMID:26474921|PMID:28012258|PMID:28492532|PMID:28733223|PMID:29761167|PMID:31759867|PMID:32376413|PMID:32917322 10050402 CV191872 NM_000443.4(ABCB4):c.2177C>T (p.Pro726Leu) variant DOID:0070229 intrahepatic cholestasis of pregnancy 3 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Cholestasis, intrahepatic, of pregnancy, 3 PMID:20422496|PMID:23533021|PMID:24806754|PMID:25741868|PMID:26474921|PMID:28012258|PMID:28492532|PMID:28733223|PMID:29761167|PMID:31759867|PMID:32376413|PMID:32917322 10050402 CV191872 NM_000443.4(ABCB4):c.2177C>T (p.Pro726Leu) variant DOID:9004618 Gallbladder Disease 1 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Gallbladder disease 1 PMID:20422496|PMID:23533021|PMID:24806754|PMID:25741868|PMID:26474921|PMID:28012258|PMID:28492532|PMID:28733223|PMID:29761167|PMID:31759867|PMID:32376413|PMID:32917322 10050405 CV191875 NM_000492.4(CFTR):c.2736G>A (p.Ser912=) variant DOID:1485 cystic fibrosis IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Cystic fibrosis PMID:25741868|PMID:28492532 10050406 CV191876 NM_000702.4(ATP1A2):c.2412C>T (p.Ile804=) variant DOID:0060178 familial hemiplegic migraine IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Familial hemiplegic migraine PMID:28492532 10050406 CV191876 NM_000702.4(ATP1A2):c.2412C>T (p.Ile804=) variant DOID:0111182 familial hemiplegic migraine 2 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Familial hemiplegic migraine type 2 PMID:28492532 10050406 CV191876 NM_000702.4(ATP1A2):c.2412C>T (p.Ile804=) variant DOID:9009197 Alternating Hemiplegia of Childhood 1 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Alternating hemiplegia of childhood 1 PMID:28492532 10050408 CV191878 NM_001378615.1(CC2D2A):c.1837G>A (p.Glu613Lys) variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:25741868|PMID:28492532 10050408 CV191878 NM_001378615.1(CC2D2A):c.1837G>A (p.Glu613Lys) variant DOID:0070120 Meckel syndrome 6 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Meckel syndrome type 6 PMID:25741868|PMID:28492532 10050408 CV191878 NM_001378615.1(CC2D2A):c.1837G>A (p.Glu613Lys) variant DOID:0111004 Joubert syndrome 9 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Joubert syndrome 9 PMID:25741868|PMID:28492532 10050408 CV191878 NM_001378615.1(CC2D2A):c.1837G>A (p.Glu613Lys) variant DOID:630 genetic disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10050408 CV191878 NM_001378615.1(CC2D2A):c.1837G>A (p.Glu613Lys) variant DOID:9000639 COACH Syndrome 1 IAGP D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: COACH syndrome 1 PMID:25741868|PMID:28492532 10050409 CV191879 NM_001378615.1(CC2D2A):c.1978G>C (p.Val660Leu) variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:25741868|PMID:28492532 10050409 CV191879 NM_001378615.1(CC2D2A):c.1978G>C (p.Val660Leu) variant DOID:0070120 Meckel syndrome 6 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Meckel syndrome type 6 PMID:25741868|PMID:28492532 10050409 CV191879 NM_001378615.1(CC2D2A):c.1978G>C (p.Val660Leu) variant DOID:0111004 Joubert syndrome 9 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Joubert syndrome 9 PMID:25741868|PMID:28492532 10050412 CV191884 NM_001165963.4(SCN1A):c.3481G>A (p.Ala1161Thr) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:11254445|PMID:25741868|PMID:28492532 10050412 CV191884 NM_001165963.4(SCN1A):c.3481G>A (p.Ala1161Thr) variant DOID:0111183 familial hemiplegic migraine 3 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Familial hemiplegic migraine type 3 PMID:11254445|PMID:25741868|PMID:28492532 10050412 CV191884 NM_001165963.4(SCN1A):c.3481G>A (p.Ala1161Thr) variant DOID:0111294 generalized epilepsy with febrile seizures plus 2 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: GEFS+, TYPE 2 PMID:11254445|PMID:25741868|PMID:28492532 10050412 CV191884 NM_001165963.4(SCN1A):c.3481G>A (p.Ala1161Thr) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11254445|PMID:25741868|PMID:28492532 10050412 CV191884 NM_001165963.4(SCN1A):c.3481G>A (p.Ala1161Thr) variant DOID:308 early myoclonic encephalopathy IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe PMID:11254445|PMID:25741868|PMID:28492532 10050412 CV191884 NM_001165963.4(SCN1A):c.3481G>A (p.Ala1161Thr) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11254445|PMID:25741868|PMID:28492532 10050415 CV191890 NM_001110556.2(FLNA):c.2449C>T (p.Pro817Ser) variant DOID:0050454 periventricular nodular heterotopia IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Periventricular nodular heterotopia PMID:25741868|PMID:28492532|PMID:30675029|PMID:34858435|PMID:36110220 10050415 CV191890 NM_001110556.2(FLNA):c.2449C>T (p.Pro817Ser) variant DOID:0111784 otopalatodigital syndrome type 2 IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II PMID:25741868|PMID:28492532|PMID:30675029|PMID:34858435|PMID:36110220 10050415 CV191890 NM_001110556.2(FLNA):c.2449C>T (p.Pro817Ser) variant DOID:0111785 frontometaphyseal dysplasia IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Frontometaphyseal dysplasia PMID:25741868|PMID:28492532|PMID:30675029|PMID:34858435|PMID:36110220 10050415 CV191890 NM_001110556.2(FLNA):c.2449C>T (p.Pro817Ser) variant DOID:0111788 Melnick-Needles syndrome IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles PMID:25741868|PMID:28492532|PMID:30675029|PMID:34858435|PMID:36110220 10050415 CV191890 NM_001110556.2(FLNA):c.2449C>T (p.Pro817Ser) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532|PMID:30675029|PMID:34858435|PMID:36110220 10050415 CV191890 NM_001110556.2(FLNA):c.2449C>T (p.Pro817Ser) variant DOID:1923 disorder of sexual development IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Disorder of sexual differentiation PMID:25741868|PMID:28492532|PMID:30675029|PMID:34858435|PMID:36110220 10050415 CV191890 NM_001110556.2(FLNA):c.2449C>T (p.Pro817Ser) variant DOID:65 connective tissue disease IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Connective tissue disease PMID:25741868|PMID:28492532|PMID:30675029|PMID:34858435|PMID:36110220 10050415 CV191890 NM_001110556.2(FLNA):c.2449C>T (p.Pro817Ser) variant DOID:9005082 Periventricular Nodular Heterotopia 4 IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant PMID:25741868|PMID:28492532|PMID:30675029|PMID:34858435|PMID:36110220 10050416 CV191892 NM_001849.4(COL6A2):c.1437T>C (p.Ala479=) variant DOID:0050663 Bethlem myopathy IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Collagen VI-related myopathy PMID:25741868|PMID:28492532 10050416 CV191892 NM_001849.4(COL6A2):c.1437T>C (p.Ala479=) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:25741868|PMID:28492532 10050416 CV191892 NM_001849.4(COL6A2):c.1437T>C (p.Ala479=) variant DOID:9007626 Myosclerosis, Autosomal Recessive IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Myosclerosis PMID:25741868|PMID:28492532 10050417 CV191893 NM_001849.4(COL6A2):c.1458+3C>T variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:17576681|PMID:28492532|PMID:9536098 10050418 CV191894 NM_002206.3(ITGA7):c.2293A>G (p.Ile765Val) variant DOID:0110639 congenital muscular dystrophy due to integrin alpha-7 deficiency IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, congenital, due to integrin alpha-7 deficiency PMID:28492532 10050420 CV191896 NM_002693.3(POLG):c.2724C>T (p.Ala908=) variant DOID:0080122 Alpers-Huttenlocher syndrome IAGP D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy PMID:25741868|PMID:26467025|PMID:28492532|PMID:28958595 10050420 CV191896 NM_002693.3(POLG):c.2724C>T (p.Ala908=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532|PMID:28958595 10050421 CV191899 NM_001365536.1(SCN9A):c.3157C>T (p.Leu1053Phe) variant DOID:0070155 hereditary sensory and autonomic neuropathy type 2A IAGP D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIA PMID:28492532 10050421 CV191899 NM_001365536.1(SCN9A):c.3157C>T (p.Leu1053Phe) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10050422 CV191900 NM_001365536.1(SCN9A):c.3349G>T (p.Val1117Leu) variant DOID:0050548 hereditary sensory neuropathy IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE PMID:25741868|PMID:28492532|PMID:29358611 10050422 CV191900 NM_001365536.1(SCN9A):c.3349G>T (p.Val1117Leu) variant DOID:0070155 hereditary sensory and autonomic neuropathy type 2A IAGP D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIA PMID:25741868|PMID:28492532|PMID:29358611 10050422 CV191900 NM_001365536.1(SCN9A):c.3349G>T (p.Val1117Leu) variant DOID:0111295 generalized epilepsy with febrile seizures plus 7 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: GEFS+, TYPE 7 PMID:25741868|PMID:28492532|PMID:29358611 10050422 CV191900 NM_001365536.1(SCN9A):c.3349G>T (p.Val1117Leu) variant DOID:3329 benign epilepsy with centrotemporal spikes IAGP D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:25741868|PMID:28492532|PMID:29358611 10050422 CV191900 NM_001365536.1(SCN9A):c.3349G>T (p.Val1117Leu) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:29358611 10050423 CV191901 NM_003482.4(KMT2D):c.4642G>A (p.Asp1548Asn) variant DOID:0060473 Kabuki syndrome IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kabuki syndrome PMID:28492532 10050424 CV191902 NM_003640.5(ELP1):c.1886G>A (p.Arg629His) variant DOID:11589 Riley-Day syndrome IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Familial dysautonomia PMID:24995671|PMID:26264438|PMID:27582484|PMID:28492532 10050425 CV191903 NM_004006.3(DMD):c.2039C>A (p.Thr680Asn) variant DOID:11723 Duchenne muscular dystrophy IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:25741868|PMID:28492532 10050425 CV191903 NM_004006.3(DMD):c.2039C>A (p.Thr680Asn) variant DOID:9883 Becker muscular dystrophy IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Becker muscular dystrophy PMID:25741868|PMID:28492532 10050426 CV191908 NM_005045.4(RELN):c.2016G>A (p.Pro672=) variant DOID:0060902 Norman-Roberts syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Norman-Roberts syndrome PMID:28492532 10050427 CV191910 NM_001374385.1(ATP8B1):c.1892G>A (p.Arg631Gln) variant DOID:1852 intrahepatic cholestasis IAGP D RGD:8554872 20250821 ClinVar ClinVar Annotator: match by term: ATP8B1-related disorder PMID:28492532 10050427 CV191910 NM_001374385.1(ATP8B1):c.1892G>A (p.Arg631Gln) variant DOID:630 genetic disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10050429 CV191913 NM_005609.4(PYGM):c.2024C>T (p.Ser675Leu) variant DOID:2746 glycogen storage disease V IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:17705025|PMID:25741868|PMID:28492532|PMID:32735634 10050430 CV191914 NM_005677.4(COLQ):c.1350C>T (p.Pro450=) variant DOID:0110667 congenital myasthenic syndrome 5 IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Endplate acetylcholinesterase deficiency PMID:28492532 10050433 CV191918 NM_006204.4(PDE6C):c.2037-7T>C variant DOID:13911 achromatopsia IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Achromatopsia PMID:28492532 10050433 CV191918 NM_006204.4(PDE6C):c.2037-7T>C variant DOID:9008571 Cone Dystrophy 4 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Cone dystrophy 4 PMID:28492532 10050434 CV191919 NM_007126.5(VCP):c.2406T>C (p.Asp802=) variant DOID:0050881 inclusion body myopathy with Paget disease of bone and frontotemporal dementia IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia PMID:28492532 10050434 CV191919 NM_007126.5(VCP):c.2406T>C (p.Asp802=) variant DOID:0060205 frontotemporal dementia and/or amyotrophic lateral sclerosis 6 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia PMID:28492532 10050434 CV191919 NM_007126.5(VCP):c.2406T>C (p.Asp802=) variant DOID:0111385 inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 PMID:28492532 10050434 CV191919 NM_007126.5(VCP):c.2406T>C (p.Asp802=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10050436 CV191922 NM_012301.4(MAGI2):c.2958G>T (p.Met986Ile) variant DOID:0080271 nephrotic syndrome type 15 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome 15 PMID:25741868 10050437 CV191923 NM_014000.3(VCL):c.2453T>A (p.Leu818Gln) variant DOID:0110446 dilated cardiomyopathy 1W IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1W PMID:28492532 10050440 CV191926 NM_001330260.2(SCN8A):c.3204C>T (p.Ser1068=) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 10050440 CV191926 NM_001330260.2(SCN8A):c.3204C>T (p.Ser1068=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10050441 CV191927 NM_015102.5(NPHP4):c.2257G>A (p.Asp753Asn) variant DOID:0111112 nephronophthisis 1 IAGP D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:25741868|PMID:28492532 10050441 CV191927 NM_015102.5(NPHP4):c.2257G>A (p.Asp753Asn) variant DOID:0111115 nephronophthisis 4 IAGP D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Nephronophthisis 4 PMID:25741868|PMID:28492532 10050441 CV191927 NM_015102.5(NPHP4):c.2257G>A (p.Asp753Asn) variant DOID:12712 nephronophthisis IAGP D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:25741868|PMID:28492532 10050441 CV191927 NM_015102.5(NPHP4):c.2257G>A (p.Asp753Asn) variant DOID:557 kidney disease IAGP D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney disease PMID:25741868|PMID:28492532 10050441 CV191927 NM_015102.5(NPHP4):c.2257G>A (p.Asp753Asn) variant DOID:9000511 Senior-Loken Syndrome 4 IAGP D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 4 PMID:25741868|PMID:28492532 10050442 CV191928 NM_015102.5(NPHP4):c.2203C>T (p.Arg735Trp) variant DOID:0111112 nephronophthisis 1 IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:15776426|PMID:25741868|PMID:28492532 10050442 CV191928 NM_015102.5(NPHP4):c.2203C>T (p.Arg735Trp) variant DOID:0111115 nephronophthisis 4 IAGP D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Nephronophthisis 4 PMID:15776426|PMID:25741868|PMID:28492532 10050442 CV191928 NM_015102.5(NPHP4):c.2203C>T (p.Arg735Trp) variant DOID:12712 nephronophthisis IAGP D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:15776426|PMID:25741868|PMID:28492532 10050442 CV191928 NM_015102.5(NPHP4):c.2203C>T (p.Arg735Trp) variant DOID:9000511 Senior-Loken Syndrome 4 IAGP D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 4 PMID:15776426|PMID:25741868|PMID:28492532 10050443 CV191929 NM_015272.5(RPGRIP1L):c.2439A>G (p.Pro813=) variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 10050445 CV191932 NM_016616.5(NME8):c.1729G>A (p.Val577Ile) variant DOID:0110606 primary ciliary dyskinesia 6 IAGP D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 6 PMID:28492532 10050445 CV191932 NM_016616.5(NME8):c.1729G>A (p.Val577Ile) variant DOID:9562 primary ciliary dyskinesia IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 10050446 CV191933 NM_017777.4(MKS1):c.1506G>A (p.Ser502=) variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 10050446 CV191933 NM_017777.4(MKS1):c.1506G>A (p.Ser502=) variant DOID:0070115 Meckel syndrome 1 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Meckel syndrome type 1 PMID:28492532 10050446 CV191933 NM_017777.4(MKS1):c.1506G>A (p.Ser502=) variant DOID:0110135 Bardet-Biedl syndrome 13 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 13 PMID:28492532 10050448 CV191935 NM_152564.5(VPS13B):c.2470T>G (p.Ser824Ala) variant DOID:0111590 Cohen syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: VPS13B-related condition PMID:23352163|PMID:27380831|PMID:28492532 10050448 CV191935 NM_152564.5(VPS13B):c.2470T>G (p.Ser824Ala) variant DOID:630 genetic disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23352163|PMID:27380831|PMID:28492532 10050448 CV191935 NM_152564.5(VPS13B):c.2470T>G (p.Ser824Ala) variant DOID:9001162 Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness PMID:23352163|PMID:27380831|PMID:28492532 10050449 CV191936 NM_152564.5(VPS13B):c.2473G>A (p.Ala825Thr) variant DOID:0111590 Cohen syndrome IAGP D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:25741868|PMID:28492532 10050449 CV191936 NM_152564.5(VPS13B):c.2473G>A (p.Ala825Thr) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10050449 CV191936 NM_152564.5(VPS13B):c.2473G>A (p.Ala825Thr) variant DOID:9001162 Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness PMID:25741868|PMID:28492532 10050451 CV191939 NM_018451.5(CPAP):c.3922G>A (p.Val1308Ile) variant DOID:0070010 Seckel syndrome 4 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Seckel syndrome 4 PMID:26467025|PMID:28492532 10050451 CV191939 NM_018451.5(CPAP):c.3922G>A (p.Val1308Ile) variant DOID:0070290 primary autosomal recessive microcephaly 6 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary autosomal recessive microcephaly 6 PMID:26467025|PMID:28492532 10050451 CV191939 NM_018451.5(CPAP):c.3922G>A (p.Val1308Ile) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532 10050452 CV191940 NM_020631.6(PLEKHG5):c.1932T>C (p.Pro644=) variant DOID:0111213 autosomal recessive distal hereditary motor neuronopathy 4 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 4 PMID:25741868|PMID:28492532 10050453 CV191941 NM_020751.3(COG6):c.1693-12T>C variant DOID:0070264 congenital disorder of glycosylation type IIl IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: COG6-CGD PMID:28492532 10050453 CV191941 NM_020751.3(COG6):c.1693-12T>C variant DOID:9001463 Shaheen Syndrome IAGP D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Shaheen syndrome PMID:28492532 10050454 CV191942 NM_020800.3(IFT80):c.1883G>A (p.Arg628Gln) variant DOID:0050592 asphyxiating thoracic dystrophy IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:25741868|PMID:28492532 10050454 CV191942 NM_020800.3(IFT80):c.1883G>A (p.Arg628Gln) variant DOID:0110086 asphyxiating thoracic dystrophy 2 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 2 PMID:25741868|PMID:28492532 10050455 CV191944 NM_020822.3(KCNT1):c.1726G>A (p.Glu576Lys) variant DOID:0080439 developmental and epileptic encephalopathy 14 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:25741868|PMID:28492532 10050455 CV191944 NM_020822.3(KCNT1):c.1726G>A (p.Glu576Lys) variant DOID:630 genetic disease IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10050457 CV191947 NM_022124.6(CDH23):c.1803C>G (p.Val601=) variant DOID:0050439 Usher syndrome IAGP D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness PMID:24033266|PMID:28492532 10050457 CV191947 NM_022124.6(CDH23):c.1803C>G (p.Val601=) variant DOID:0110467 autosomal recessive nonsyndromic deafness 12 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 12 PMID:24033266|PMID:28492532 10050457 CV191947 NM_022124.6(CDH23):c.1803C>G (p.Val601=) variant DOID:0110826 Usher syndrome type 1 IAGP D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1 PMID:24033266|PMID:28492532 10050457 CV191947 NM_022124.6(CDH23):c.1803C>G (p.Val601=) variant DOID:0110831 Usher syndrome type 1D IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1D PMID:24033266|PMID:28492532 10050459 CV191951 NM_024757.5(EHMT1):c.2595C>T (p.Asp865=) variant DOID:0060352 Kleefstra syndrome 1 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:25741868|PMID:28492532 10050460 CV191954 NM_032119.4(ADGRV1):c.3244C>T (p.Pro1082Ser) variant DOID:630 genetic disease IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10050461 CV191956 NM_033100.4(CDHR1):c.2522_2528del (p.Ile841fs) variant DOID:0050795 cone dystrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Cone dystrophy PMID:25741868|PMID:26766544|PMID:27623334|PMID:28041643|PMID:28492532|PMID:28765526|PMID:29555955|PMID:30718709|PMID:31130284|PMID:31387115|PMID:31964843|PMID:32581362|PMID:33546218|PMID:33576794|PMID:33749171|PMID:34229535|PMID:35260635|PMID:35627310|PMID:35656873|PMID:35836572|PMID:36460718 10050461 CV191956 NM_033100.4(CDHR1):c.2522_2528del (p.Ile841fs) variant DOID:0111021 cone-rod dystrophy 15 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 65 PMID:25741868|PMID:26766544|PMID:27623334|PMID:28041643|PMID:28492532|PMID:28765526|PMID:29555955|PMID:30718709|PMID:31130284|PMID:31387115|PMID:31964843|PMID:32581362|PMID:33546218|PMID:33576794|PMID:33749171|PMID:34229535|PMID:35260635|PMID:35627310|PMID:35656873|PMID:35836572|PMID:36460718 10050461 CV191956 NM_033100.4(CDHR1):c.2522_2528del (p.Ile841fs) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:26766544|PMID:27623334|PMID:28041643|PMID:28492532|PMID:28765526|PMID:29555955|PMID:30718709|PMID:31130284|PMID:31387115|PMID:31964843|PMID:32581362|PMID:33546218|PMID:33576794|PMID:33749171|PMID:34229535|PMID:35260635|PMID:35627310|PMID:35656873|PMID:35836572|PMID:36460718 10050461 CV191956 NM_033100.4(CDHR1):c.2522_2528del (p.Ile841fs) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:26766544|PMID:27623334|PMID:28041643|PMID:28492532|PMID:28765526|PMID:29555955|PMID:30718709|PMID:31130284|PMID:31387115|PMID:31964843|PMID:32581362|PMID:33546218|PMID:33576794|PMID:33749171|PMID:34229535|PMID:35260635|PMID:35627310|PMID:35656873|PMID:35836572|PMID:36460718 10050461 CV191956 NM_033100.4(CDHR1):c.2522_2528del (p.Ile841fs) variant DOID:9006690 Vitelliform Macular Dystrophy 5 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Macular dystrophy, retinal, 5 PMID:25741868|PMID:26766544|PMID:27623334|PMID:28041643|PMID:28492532|PMID:28765526|PMID:29555955|PMID:30718709|PMID:31130284|PMID:31387115|PMID:31964843|PMID:32581362|PMID:33546218|PMID:33576794|PMID:33749171|PMID:34229535|PMID:35260635|PMID:35627310|PMID:35656873|PMID:35836572|PMID:36460718 10050462 CV191958 NM_033100.4(CDHR1):c.*4A>G variant DOID:0050572 cone-rod dystrophy IAGP D RGD:8554872 20200121 ClinVar ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive PMID:25741868 10050463 CV191959 NM_052989.3(IFT122):c.1992+7A>G variant DOID:0080803 cranioectodermal dysplasia 1 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cranioectodermal dysplasia 1 PMID:28492532 10050464 CV191960 NM_080680.3(COL11A2):c.1637G>A (p.Arg546Gln) variant DOID:0080026 otospondylomegaepiphyseal dysplasia, autosomal recessive IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Otospondylomegaepiphyseal dysplasia, autosomal recessive PMID:28492532 10050464 CV191960 NM_080680.3(COL11A2):c.1637G>A (p.Arg546Gln) variant DOID:0080673 fibrochondrogenesis 2 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Fibrochondrogenesis 2 PMID:28492532 10050464 CV191960 NM_080680.3(COL11A2):c.1637G>A (p.Arg546Gln) variant DOID:0080677 otospondylomegaepiphyseal dysplasia, autosomal dominant IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Otospondylomegaepiphyseal dysplasia, autosomal dominant PMID:28492532 10050464 CV191960 NM_080680.3(COL11A2):c.1637G>A (p.Arg546Gln) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10050465 CV191961 NM_153240.5(NPHP3):c.2344G>A (p.Val782Met) variant DOID:630 genetic disease IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10050466 CV191962 NM_153240.5(NPHP3):c.2442T>C (p.Tyr814=) variant DOID:12712 nephronophthisis IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:28492532 10050467 CV191964 NM_172107.4(KCNQ2):c.2358G>A (p.Thr786=) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 10050467 CV191964 NM_172107.4(KCNQ2):c.2358G>A (p.Thr786=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10050468 CV191965 NM_198428.3(BBS9):c.1768G>A (p.Val590Ile) variant DOID:0110131 Bardet-Biedl syndrome 9 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 9 PMID:25741868|PMID:28492532 10050468 CV191965 NM_198428.3(BBS9):c.1768G>A (p.Val590Ile) variant DOID:1935 Bardet-Biedl syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:25741868|PMID:28492532 10050468 CV191965 NM_198428.3(BBS9):c.1768G>A (p.Val590Ile) variant DOID:630 genetic disease IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10050469 CV191966 NM_206933.4(USH2A):c.3489C>T (p.Asp1163=) variant DOID:0110838 Usher syndrome type 2A IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Usher syndrome, type 2A PMID:28492532 10050469 CV191966 NM_206933.4(USH2A):c.3489C>T (p.Asp1163=) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532 10050470 CV191967 NM_207361.6(FREM2):c.8100T>G (p.Leu2700=) variant DOID:0111717 isolated cryptophthalmia IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Isolated cryptophthalmia PMID:25741868|PMID:28492532 10050472 CV191970 NM_000093.5(COL5A1):c.1896C>T (p.Phe632=) variant DOID:13359 Ehlers-Danlos syndrome IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:25741868|PMID:28492532 10050472 CV191970 NM_000093.5(COL5A1):c.1896C>T (p.Phe632=) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10050472 CV191970 NM_000093.5(COL5A1):c.1896C>T (p.Phe632=) variant DOID:14720 Ehlers-Danlos syndrome classic type 1 IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:25741868|PMID:28492532 10050474 CV191976 NM_000503.6(EYA1):c.1699-8T>C variant DOID:0061209 branchiootic syndrome 1 IAGP D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Branchiootic syndrome 1 PMID:24033266|PMID:28492532 10050474 CV191976 NM_000503.6(EYA1):c.1699-8T>C variant DOID:14702 branchiootorenal syndrome IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Melnick-Fraser syndrome PMID:24033266|PMID:28492532 10050474 CV191976 NM_000503.6(EYA1):c.1699-8T>C variant DOID:9002601 Otofaciocervical Syndrome 1 IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Otofaciocervical syndrome PMID:24033266|PMID:28492532 10050476 CV191978 NM_000553.6(WRN):c.1992C>T (p.Leu664=) variant DOID:5688 Werner syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Werner syndrome PMID:28492532 10050478 CV191980 NM_001378615.1(CC2D2A):c.2163G>A (p.Pro721=) variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 10050478 CV191980 NM_001378615.1(CC2D2A):c.2163G>A (p.Pro721=) variant DOID:0070120 Meckel syndrome 6 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: CC2D2A-related disorder PMID:28492532 10050479 CV191981 NM_001378615.1(CC2D2A):c.2181+7A>C variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:25741868|PMID:28492532 10050479 CV191981 NM_001378615.1(CC2D2A):c.2181+7A>C variant DOID:0070120 Meckel syndrome 6 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 6 PMID:25741868|PMID:28492532 10050480 CV191983 NM_001378615.1(CC2D2A):c.2039G>A (p.Arg680His) variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:25741868|PMID:28492532 10050480 CV191983 NM_001378615.1(CC2D2A):c.2039G>A (p.Arg680His) variant DOID:0070120 Meckel syndrome 6 IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Meckel syndrome type 6 PMID:25741868|PMID:28492532 10050480 CV191983 NM_001378615.1(CC2D2A):c.2039G>A (p.Arg680His) variant DOID:0111004 Joubert syndrome 9 IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Joubert syndrome 9 PMID:25741868|PMID:28492532 10050480 CV191983 NM_001378615.1(CC2D2A):c.2039G>A (p.Arg680His) variant DOID:630 genetic disease IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10050480 CV191983 NM_001378615.1(CC2D2A):c.2039G>A (p.Arg680His) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532 10050480 CV191983 NM_001378615.1(CC2D2A):c.2039G>A (p.Arg680His) variant DOID:9000639 COACH Syndrome 1 IAGP D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: COACH syndrome 1 PMID:25741868|PMID:28492532 10050481 CV191985 NM_001330078.2(NRXN1):c.3364+3A>G variant DOID:0111332 Pitt-Hopkins-like syndrome 2 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 PMID:17576681|PMID:28492532|PMID:9536098 10050482 CV191986 NM_001142800.2(EYS):c.2813A>G (p.Lys938Arg) variant DOID:0110384 retinitis pigmentosa 25 IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 25 PMID:20333770|PMID:25741868|PMID:28492532 10050482 CV191986 NM_001142800.2(EYS):c.2813A>G (p.Lys938Arg) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:20333770|PMID:25741868|PMID:28492532 10050484 CV191989 NM_001277115.2(DNAH11):c.3466G>A (p.Gly1156Arg) variant DOID:0110605 primary ciliary dyskinesia 7 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: DNAH11-related condition PMID:28492532 10050484 CV191989 NM_001277115.2(DNAH11):c.3466G>A (p.Gly1156Arg) variant DOID:9562 primary ciliary dyskinesia IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 10050485 CV191991 NM_001844.5(COL2A1):c.1115G>A (p.Gly372Glu) variant DOID:0080056 achondrogenesis type II IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Achondrogenesis type II PMID:17078022|PMID:19344236|PMID:25604898|PMID:25741868|PMID:28492532|PMID:32333414|PMID:7695699|PMID:8218237|PMID:9016532 10050486 CV191992 NM_001849.4(COL6A2):c.1521+5G>A variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:17576681|PMID:28492532|PMID:9536098 10050488 CV191998 NM_001876.4(CPT1A):c.2198A>G (p.Asn733Ser) variant DOID:0090129 carnitine palmitoyltransferase I deficiency IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Carnitine palmitoyl transferase 1A deficiency PMID:28492532 10050490 CV192001 NM_002693.3(POLG):c.2857C>T (p.Arg953Cys) variant DOID:0080122 Alpers-Huttenlocher syndrome IAGP D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy PMID:15351195|PMID:20185557|PMID:20701905|PMID:21880868|PMID:21993618|PMID:22334187|PMID:25118206|PMID:25741868|PMID:26224072|PMID:26467025|PMID:27381400|PMID:28492532|PMID:31665838|PMID:31762033|PMID:33046616 10050490 CV192001 NM_002693.3(POLG):c.2857C>T (p.Arg953Cys) variant DOID:0111522 autosomal recessive progressive external ophthalmoplegia 1 IAGP D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 PMID:15351195|PMID:20185557|PMID:20701905|PMID:21880868|PMID:21993618|PMID:22334187|PMID:25118206|PMID:25741868|PMID:26224072|PMID:26467025|PMID:27381400|PMID:28492532|PMID:31665838|PMID:31762033|PMID:33046616 10050491 CV192002 NM_001365536.1(SCN9A):c.3361C>T (p.Arg1121Trp) variant DOID:0070155 hereditary sensory and autonomic neuropathy type 2A IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIA PMID:25741868|PMID:26467025|PMID:27956748|PMID:28492532 10050492 CV192004 NM_001367721.1(CASK):c.1718C>T (p.Thr573Ile) variant DOID:0060807 syndromic X-linked intellectual disability Najm type IAGP D RGD:8554872 20220426 ClinVar ClinVar Annotator: match by term: Intellectual disability, CASK-related, X-linked PMID:28492532 10050493 CV192006 NM_003835.4(RGS9):c.1658T>C (p.Val553Ala) variant DOID:630 genetic disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10050494 CV192007 NM_004006.3(DMD):c.2261G>T (p.Gly754Val) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:24033266|PMID:25741868|PMID:28492532 10050494 CV192007 NM_004006.3(DMD):c.2261G>T (p.Gly754Val) variant DOID:0110461 X-linked dilated cardiomyopathy IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, X-LINKED PMID:24033266|PMID:25741868|PMID:28492532 10050494 CV192007 NM_004006.3(DMD):c.2261G>T (p.Gly754Val) variant DOID:11723 Duchenne muscular dystrophy IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:24033266|PMID:25741868|PMID:28492532 10050494 CV192007 NM_004006.3(DMD):c.2261G>T (p.Gly754Val) variant DOID:9883 Becker muscular dystrophy IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Muscular dystrophy pseudohypertrophic progressive, Becker type PMID:24033266|PMID:25741868|PMID:28492532 10050495 CV192008 NM_004006.3(DMD):c.2200T>C (p.Trp734Arg) variant DOID:0110461 X-linked dilated cardiomyopathy IAGP D RGD:8554872 20240903 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 3B PMID:25741868 10050498 CV192015 NM_005045.4(RELN):c.2125A>T (p.Met709Leu) variant DOID:0060902 Norman-Roberts syndrome IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Norman-Roberts syndrome PMID:28492532 10050498 CV192015 NM_005045.4(RELN):c.2125A>T (p.Met709Leu) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10050499 CV192016 NM_005045.4(RELN):c.2125A>G (p.Met709Val) variant DOID:0060751 familial temporal lobe epilepsy 7 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Familial temporal lobe epilepsy 7 PMID:25741868|PMID:28492532 10050499 CV192016 NM_005045.4(RELN):c.2125A>G (p.Met709Val) variant DOID:0060902 Norman-Roberts syndrome IAGP D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Lissencephaly 2 PMID:25741868|PMID:28492532 10050499 CV192016 NM_005045.4(RELN):c.2125A>G (p.Met709Val) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10050500 CV192017 NM_006031.6(PCNT):c.3549C>T (p.Ile1183=) variant DOID:0060609 microcephalic osteodysplastic primordial dwarfism type II IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism type II PMID:25741868|PMID:28492532 10050501 CV192018 NM_006208.3(ENPP1):c.1791T>C (p.Asn597=) variant DOID:9001198 Hypophosphatemic Rickets, Autosomal Recessive, 2 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Hypophosphatemic rickets, autosomal recessive, 2 PMID:28492532 10050501 CV192018 NM_006208.3(ENPP1):c.1791T>C (p.Asn597=) variant DOID:9006958 Generalized Arterial Calcification of Infancy, 1 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Arterial calcification, generalized, of infancy, 1 PMID:28492532 10050502 CV192021 NM_006922.4(SCN3A):c.3253A>G (p.Ile1085Val) variant DOID:0080420 developmental and epileptic encephalopathy 62 IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 62 PMID:25741868|PMID:28492532 10050502 CV192021 NM_006922.4(SCN3A):c.3253A>G (p.Ile1085Val) variant DOID:630 genetic disease IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10050504 CV192025 NM_012463.4(ATP6V0A2):c.2229T>C (p.Cys743=) variant DOID:0080564 congenital disorder of glycosylation Il IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il PMID:26467025|PMID:28492532 10050504 CV192025 NM_012463.4(ATP6V0A2):c.2229T>C (p.Cys743=) variant DOID:9002034 Autosomal Recessive Cutis Laxa IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Cutis laxa, recessive PMID:26467025|PMID:28492532 10050505 CV192027 NM_014000.3(VCL):c.2652G>A (p.Glu884=) variant DOID:0110446 dilated cardiomyopathy 1W IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1W PMID:28492532 10050507 CV192029 NM_015102.5(NPHP4):c.2425A>G (p.Lys809Glu) variant DOID:0111115 nephronophthisis 4 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Nephronophthisis 4 PMID:25741868|PMID:28492532 10050507 CV192029 NM_015102.5(NPHP4):c.2425A>G (p.Lys809Glu) variant DOID:12712 nephronophthisis IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:25741868|PMID:28492532 10050508 CV192033 NM_017777.4(MKS1):c.1640C>T (p.Pro547Leu) variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:25741868|PMID:28492532|PMID:34582790 10050508 CV192033 NM_017777.4(MKS1):c.1640C>T (p.Pro547Leu) variant DOID:0050778 Meckel syndrome IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:25741868|PMID:28492532|PMID:34582790 10050508 CV192033 NM_017777.4(MKS1):c.1640C>T (p.Pro547Leu) variant DOID:0070115 Meckel syndrome 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 1 PMID:25741868|PMID:28492532|PMID:34582790 10050508 CV192033 NM_017777.4(MKS1):c.1640C>T (p.Pro547Leu) variant DOID:0110135 Bardet-Biedl syndrome 13 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 13 PMID:25741868|PMID:28492532|PMID:34582790 10050508 CV192033 NM_017777.4(MKS1):c.1640C>T (p.Pro547Leu) variant DOID:0110980 Joubert syndrome 1 IAGP D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:25741868|PMID:28492532|PMID:34582790 10050508 CV192033 NM_017777.4(MKS1):c.1640C>T (p.Pro547Leu) variant DOID:0110997 Joubert Syndrome 28 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Joubert syndrome 28 PMID:25741868|PMID:28492532|PMID:34582790 10050508 CV192033 NM_017777.4(MKS1):c.1640C>T (p.Pro547Leu) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:34582790 10050509 CV192034 NM_018136.5(ASPM):c.4867A>G (p.Met1623Val) variant DOID:0070280 primary autosomal recessive microcephaly 5 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary autosomal recessive microcephaly 5 PMID:25741868|PMID:28492532 10050509 CV192034 NM_018136.5(ASPM):c.4867A>G (p.Met1623Val) variant DOID:630 genetic disease IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10050511 CV192036 NM_018136.5(ASPM):c.5833A>G (p.Ile1945Val) variant DOID:0070280 primary autosomal recessive microcephaly 5 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Microcephaly 5, primary, autosomal recessive PMID:25741868|PMID:28492532 10050511 CV192036 NM_018136.5(ASPM):c.5833A>G (p.Ile1945Val) variant DOID:630 genetic disease IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10050512 CV192037 NM_018136.5(ASPM):c.4309C>T (p.Arg1437Cys) variant DOID:0070280 primary autosomal recessive microcephaly 5 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Microcephaly 5, primary, autosomal recessive PMID:25741868|PMID:28492532 10050512 CV192037 NM_018136.5(ASPM):c.4309C>T (p.Arg1437Cys) variant DOID:630 genetic disease IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10050513 CV192039 NM_018136.5(ASPM):c.8068C>T (p.Arg2690Trp) variant DOID:0070280 primary autosomal recessive microcephaly 5 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary autosomal recessive microcephaly 5 PMID:25741868|PMID:28492532 10050513 CV192039 NM_018136.5(ASPM):c.8068C>T (p.Arg2690Trp) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10050514 CV192040 NM_018136.5(ASPM):c.8228G>A (p.Arg2743Gln) variant DOID:0070280 primary autosomal recessive microcephaly 5 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Primary autosomal recessive microcephaly 5 PMID:28492532 10050516 CV192044 NM_020822.3(KCNT1):c.1899G>A (p.Ser633=) variant DOID:0080439 developmental and epileptic encephalopathy 14 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:28492532 10050517 CV192045 NM_020822.3(KCNT1):c.1927C>T (p.Arg643Trp) variant DOID:0060686 autosomal dominant nocturnal frontal lobe epilepsy 5 IAGP D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 PMID:25741868|PMID:28492532 10050517 CV192045 NM_020822.3(KCNT1):c.1927C>T (p.Arg643Trp) variant DOID:0080439 developmental and epileptic encephalopathy 14 IAGP D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:25741868|PMID:28492532 10050517 CV192045 NM_020822.3(KCNT1):c.1927C>T (p.Arg643Trp) variant DOID:630 genetic disease IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10050519 CV192050 NM_022124.6(CDH23):c.1963G>A (p.Val655Ile) variant DOID:0050439 Usher syndrome IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness PMID:24033266|PMID:25741868|PMID:28492532 10050519 CV192050 NM_022124.6(CDH23):c.1963G>A (p.Val655Ile) variant DOID:0110467 autosomal recessive nonsyndromic deafness 12 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 12 PMID:24033266|PMID:25741868|PMID:28492532 10050519 CV192050 NM_022124.6(CDH23):c.1963G>A (p.Val655Ile) variant DOID:0110826 Usher syndrome type 1 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1 PMID:24033266|PMID:25741868|PMID:28492532 10050519 CV192050 NM_022124.6(CDH23):c.1963G>A (p.Val655Ile) variant DOID:0110831 Usher syndrome type 1D IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1D PMID:24033266|PMID:25741868|PMID:28492532 10050519 CV192050 NM_022124.6(CDH23):c.1963G>A (p.Val655Ile) variant DOID:630 genetic disease IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 10050520 CV192051 NM_022124.6(CDH23):c.1919C>T (p.Thr640Met) variant DOID:0050439 Usher syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness PMID:22135276|PMID:25741868|PMID:26969326|PMID:28492532 10050520 CV192051 NM_022124.6(CDH23):c.1919C>T (p.Thr640Met) variant DOID:0110467 autosomal recessive nonsyndromic deafness 12 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 12 PMID:22135276|PMID:25741868|PMID:26969326|PMID:28492532 10050520 CV192051 NM_022124.6(CDH23):c.1919C>T (p.Thr640Met) variant DOID:0110826 Usher syndrome type 1 IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1 PMID:22135276|PMID:25741868|PMID:26969326|PMID:28492532 10050520 CV192051 NM_022124.6(CDH23):c.1919C>T (p.Thr640Met) variant DOID:0110831 Usher syndrome type 1D IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1D PMID:22135276|PMID:25741868|PMID:26969326|PMID:28492532 10050520 CV192051 NM_022124.6(CDH23):c.1919C>T (p.Thr640Met) variant DOID:0112008 pituitary adenoma 5 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pituitary adenoma 5, multiple types PMID:22135276|PMID:25741868|PMID:26969326|PMID:28492532 10050521 CV192052 NM_022455.5(NSD1):c.5635A>G (p.Ile1879Val) variant DOID:14748 Sotos syndrome IAGP D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Sotos syndrome PMID:25741868|PMID:28492532 10050521 CV192052 NM_022455.5(NSD1):c.5635A>G (p.Ile1879Val) variant DOID:630 genetic disease IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10050523 CV192055 NM_024757.5(EHMT1):c.2695A>G (p.Ile899Val) variant DOID:0060352 Kleefstra syndrome 1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:28492532 10050523 CV192055 NM_024757.5(EHMT1):c.2695A>G (p.Ile899Val) variant DOID:630 genetic disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10050524 CV192056 NM_025114.4(CEP290):c.1716A>G (p.Leu572=) variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:25741868|PMID:28492532 10050524 CV192056 NM_025114.4(CEP290):c.1716A>G (p.Leu572=) variant DOID:14791 Leber congenital amaurosis IAGP D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:25741868|PMID:28492532 10050525 CV192057 NM_031220.4(PITPNM3):c.2355G>A (p.Pro785=) variant DOID:0111010 cone-rod dystrophy 5 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 5 PMID:28492532 10050526 CV192059 NM_001349338.3(FOXP1):c.1652+5G>A variant DOID:0111331 intellectual disability-severe speech delay-mild dysmorphism syndrome IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Intellectual disability-severe speech delay-mild dysmorphism syndrome PMID:17576681|PMID:25741868|PMID:26647308|PMID:28492532|PMID:31199603|PMID:34580403|PMID:35991577|PMID:9536098 10050526 CV192059 NM_001349338.3(FOXP1):c.1652+5G>A variant DOID:630 genetic disease IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:25741868|PMID:26647308|PMID:28492532|PMID:31199603|PMID:34580403|PMID:35991577|PMID:9536098 10050530 CV192067 NM_001267550.2(TTN):c.3030C>T (p.Ser1010=) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10 PMID:28492532 10050530 CV192067 NM_001267550.2(TTN):c.3030C>T (p.Ser1010=) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:28492532 10050531 CV192068 NM_133433.4(NIPBL):c.4161T>C (p.Tyr1387=) variant DOID:0080505 Cornelia de Lange syndrome 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 PMID:28492532 10050532 CV192069 NM_181426.2(CCDC39):c.2534T>C (p.Ile845Thr) variant DOID:0110598 primary ciliary dyskinesia 14 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 14 PMID:25741868|PMID:28492532 10050532 CV192069 NM_181426.2(CCDC39):c.2534T>C (p.Ile845Thr) variant DOID:9562 primary ciliary dyskinesia IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:25741868|PMID:28492532 10050533 CV192070 NM_206933.4(USH2A):c.3861A>G (p.Lys1287=) variant DOID:0110838 Usher syndrome type 2A IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: USH2A-related disorder PMID:28492532 10050535 CV192072 NM_001267550.2(TTN):c.44077C>T (p.Arg14693Cys) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532|PMID:30086531 10050535 CV192072 NM_001267550.2(TTN):c.44077C>T (p.Arg14693Cys) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10 PMID:24033266|PMID:25741868|PMID:28492532|PMID:30086531 10050535 CV192072 NM_001267550.2(TTN):c.44077C>T (p.Arg14693Cys) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:24033266|PMID:25741868|PMID:28492532|PMID:30086531 10050536 CV192074 NM_000070.3(CAPN3):c.2099T>C (p.Met700Thr) variant DOID:0110275 autosomal recessive limb-girdle muscular dystrophy type 2A IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2A PMID:28492532|PMID:32994280 10050537 CV192076 NM_000152.5(GAA):c.2739C>G (p.Pro913=) variant DOID:2752 glycogen storage disease II IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type II PMID:25741868|PMID:28492532 10050537 CV192076 NM_000152.5(GAA):c.2739C>G (p.Pro913=) variant DOID:9001828 Cardiac Form of Generalized Glycogenosis IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomegalia glycogenica diffusa PMID:25741868|PMID:28492532 10050538 CV192080 NM_000275.3(OCA2):c.2020C>G (p.Leu674Val) variant DOID:0070096 oculocutaneous albinism type II IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Tyrosinase-positive oculocutaneous albinism PMID:23010199|PMID:25741868|PMID:28492532|PMID:28667292 10050538 CV192080 NM_000275.3(OCA2):c.2020C>G (p.Leu674Val) variant DOID:13250 diarrhea IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Diarrhea PMID:23010199|PMID:25741868|PMID:28492532|PMID:28667292 10050538 CV192080 NM_000275.3(OCA2):c.2020C>G (p.Leu674Val) variant DOID:630 genetic disease IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23010199|PMID:25741868|PMID:28492532|PMID:28667292 10050540 CV192084 NM_000492.4(CFTR):c.3024C>T (p.Val1008=) variant DOID:1485 cystic fibrosis IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Cystic fibrosis PMID:28492532 10050541 CV192085 NM_000540.3(RYR1):c.2319C>T (p.Asp773=) variant DOID:0080991 congenital myopathy 1B IAGP D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Multiminicore myopathy PMID:25741868|PMID:28492532 10050541 CV192085 NM_000540.3(RYR1):c.2319C>T (p.Asp773=) variant DOID:3529 congenital myopathy 1A IAGP D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Central core disease PMID:25741868|PMID:28492532 10050541 CV192085 NM_000540.3(RYR1):c.2319C>T (p.Asp773=) variant DOID:8545 malignant hyperthermia IAGP D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Malignant hyperthermia susceptibility PMID:25741868|PMID:28492532 10050541 CV192085 NM_000540.3(RYR1):c.2319C>T (p.Asp773=) variant DOID:9005001 Congenital Neuromuscular Disease, with Uniform Type 1 Fiber IAGP D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Neuromuscular disease, congenital, with uniform type 1 fiber PMID:25741868|PMID:28492532 10050541 CV192085 NM_000540.3(RYR1):c.2319C>T (p.Asp773=) variant DOID:9005320 Malignant Fever IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Pharmacogenic myopathy PMID:25741868|PMID:28492532 10050542 CV192086 NM_000548.5(TSC2):c.2006C>T (p.Pro669Leu) variant DOID:0080325 tuberous sclerosis 2 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:25741868|PMID:28492532|PMID:29167182 10050542 CV192086 NM_000548.5(TSC2):c.2006C>T (p.Pro669Leu) variant DOID:13515 tuberous sclerosis IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis syndrome PMID:25741868|PMID:28492532|PMID:29167182 10050542 CV192086 NM_000548.5(TSC2):c.2006C>T (p.Pro669Leu) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532|PMID:29167182 10050542 CV192086 NM_000548.5(TSC2):c.2006C>T (p.Pro669Leu) variant DOID:9008426 Focal Cortical Dysplasia of Taylor IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Focal cortical dysplasia type 2 PMID:25741868|PMID:28492532|PMID:29167182 10050543 CV192087 NM_000702.4(ATP1A2):c.2675T>C (p.Met892Thr) variant DOID:0060178 familial hemiplegic migraine IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemiplegic migraine PMID:25741868|PMID:28492532 10050543 CV192087 NM_000702.4(ATP1A2):c.2675T>C (p.Met892Thr) variant DOID:9009197 Alternating Hemiplegia of Childhood 1 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Alternating hemiplegia of childhood 1 PMID:25741868|PMID:28492532 10050546 CV192090 NM_001127222.2(CACNA1A):c.3040G>A (p.Glu1014Lys) variant DOID:0050990 episodic ataxia type 2 IAGP D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia, paroxysmal, Acetazolamide-responsive PMID:20156848|PMID:24108129|PMID:25356970|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30167989 10050546 CV192090 NM_001127222.2(CACNA1A):c.3040G>A (p.Glu1014Lys) variant DOID:0080454 developmental and epileptic encephalopathy 42 IAGP D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 42 PMID:20156848|PMID:24108129|PMID:25356970|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30167989 10050546 CV192090 NM_001127222.2(CACNA1A):c.3040G>A (p.Glu1014Lys) variant DOID:1059 intellectual disability IAGP D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:20156848|PMID:24108129|PMID:25356970|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30167989 10050546 CV192090 NM_001127222.2(CACNA1A):c.3040G>A (p.Glu1014Lys) variant DOID:630 genetic disease IAGP D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20156848|PMID:24108129|PMID:25356970|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30167989 10050547 CV192091 NM_000245.4(MET):c.3688T>C (p.Tyr1230His) variant DOID:9002127 Osteofibrous Dysplasia IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Osteofibrous dysplasia PMID:25741868|PMID:28396313 10050548 CV192092 NM_001330078.2(NRXN1):c.3499C>T (p.Arg1167Ter) variant DOID:0111332 Pitt-Hopkins-like syndrome 2 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 PMID:25741868 10050548 CV192092 NM_001330078.2(NRXN1):c.3499C>T (p.Arg1167Ter) variant DOID:9970 obesity IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Obesity PMID:25741868 10050549 CV192093 NM_001142800.2(EYS):c.2971C>T (p.Leu991Phe) variant DOID:0110384 retinitis pigmentosa 25 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 25 PMID:25741868|PMID:26787102|PMID:28492532|PMID:33576794|PMID:34426522 10050549 CV192093 NM_001142800.2(EYS):c.2971C>T (p.Leu991Phe) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:26787102|PMID:28492532|PMID:33576794|PMID:34426522 10050549 CV192093 NM_001142800.2(EYS):c.2971C>T (p.Leu991Phe) variant DOID:5723 optic atrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:25741868|PMID:26787102|PMID:28492532|PMID:33576794|PMID:34426522 10050549 CV192093 NM_001142800.2(EYS):c.2971C>T (p.Leu991Phe) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:26787102|PMID:28492532|PMID:33576794|PMID:34426522 10050550 CV192094 NM_001165963.4(SCN1A):c.3866T>C (p.Phe1289Ser) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:25348405|PMID:28492532 10050551 CV192095 NM_001165963.4(SCN1A):c.3732G>A (p.Gln1244=) variant DOID:0111183 familial hemiplegic migraine 3 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Familial hemiplegic migraine type 3 PMID:28492532 10050551 CV192095 NM_001165963.4(SCN1A):c.3732G>A (p.Gln1244=) variant DOID:0111294 generalized epilepsy with febrile seizures plus 2 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 2 PMID:28492532 10050551 CV192095 NM_001165963.4(SCN1A):c.3732G>A (p.Gln1244=) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 10050552 CV192096 NM_001110556.2(FLNA):c.2826+7A>G variant DOID:0050454 periventricular nodular heterotopia IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:28492532 10050552 CV192096 NM_001110556.2(FLNA):c.2826+7A>G variant DOID:0111784 otopalatodigital syndrome type 2 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II PMID:28492532 10050552 CV192096 NM_001110556.2(FLNA):c.2826+7A>G variant DOID:0111785 frontometaphyseal dysplasia IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Frontometaphyseal dysplasia PMID:28492532 10050552 CV192096 NM_001110556.2(FLNA):c.2826+7A>G variant DOID:0111788 Melnick-Needles syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles PMID:28492532 10050552 CV192096 NM_001110556.2(FLNA):c.2826+7A>G variant DOID:9005082 Periventricular Nodular Heterotopia 4 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: PERIVENTRICULAR NODULAR HETEROTOPIA 4 PMID:28492532 10050553 CV192098 NM_001605.3(AARS1):c.2521-3C>T variant DOID:0050539 Charcot-Marie-Tooth disease type 2 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 PMID:28492532 10050553 CV192098 NM_001605.3(AARS1):c.2521-3C>T variant DOID:0110177 Charcot-Marie-Tooth disease axonal type 2N IAGP D RGD:8554872 20180508 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2N PMID:28492532 10050553 CV192098 NM_001605.3(AARS1):c.2521-3C>T variant DOID:630 genetic disease IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10050555 CV192103 NM_002206.3(ITGA7):c.2433-6C>T variant DOID:0110639 congenital muscular dystrophy due to integrin alpha-7 deficiency IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy due to integrin alpha-7 deficiency PMID:28492532 10050556 CV192106 NM_001252024.2(TRPM1):c.2485G>A (p.Glu829Lys) variant DOID:5723 optic atrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:25741868|PMID:28492532 10050556 CV192106 NM_001252024.2(TRPM1):c.2485G>A (p.Glu829Lys) variant DOID:630 genetic disease IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10050557 CV192107 NM_002471.4(MYH6):c.2217T>C (p.Asp739=) variant DOID:0110320 hypertrophic cardiomyopathy 14 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 14 PMID:28492532 10050559 CV192109 NM_001365536.1(SCN9A):c.3506A>C (p.Asn1169Thr) variant DOID:0050548 hereditary sensory neuropathy IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE PMID:28492532 10050559 CV192109 NM_001365536.1(SCN9A):c.3506A>C (p.Asn1169Thr) variant DOID:0070155 hereditary sensory and autonomic neuropathy type 2A IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIA PMID:28492532 10050559 CV192109 NM_001365536.1(SCN9A):c.3506A>C (p.Asn1169Thr) variant DOID:0111295 generalized epilepsy with febrile seizures plus 7 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: GEFS+, TYPE 7 PMID:28492532 10050559 CV192109 NM_001365536.1(SCN9A):c.3506A>C (p.Asn1169Thr) variant DOID:630 genetic disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10050560 CV192110 NM_003165.6(STXBP1):c.1804A>G (p.Met602Val) variant DOID:0080436 developmental and epileptic encephalopathy 4 IAGP D RGD:8554872 20250821 ClinVar ClinVar Annotator: match by term: STXBP1-related disorder PMID:28492532 10050560 CV192110 NM_003165.6(STXBP1):c.1804A>G (p.Met602Val) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 10050560 CV192110 NM_003165.6(STXBP1):c.1804A>G (p.Met602Val) variant DOID:630 genetic disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10050562 CV192112 NM_003995.4(NPR2):c.2723T>C (p.Ile908Thr) variant DOID:0080050 acromesomelic dysplasia, Maroteaux type IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia, Maroteaux type PMID:28492532 10050563 CV192114 NM_004006.3(DMD):c.2330T>C (p.Leu777Pro) variant DOID:11723 Duchenne muscular dystrophy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:25741868|PMID:28492532|PMID:29365344|PMID:33644936 10050563 CV192114 NM_004006.3(DMD):c.2330T>C (p.Leu777Pro) variant DOID:9883 Becker muscular dystrophy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Becker muscular dystrophy PMID:25741868|PMID:28492532|PMID:29365344|PMID:33644936 10050564 CV192115 NM_004082.5(DCTN1):c.2209G>A (p.Glu737Lys) variant DOID:0060193 amyotrophic lateral sclerosis type 1 IAGP D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:28492532 10050564 CV192115 NM_004082.5(DCTN1):c.2209G>A (p.Glu737Lys) variant DOID:630 genetic disease IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10050565 CV192117 NM_004380.3(CREBBP):c.3698+7G>A variant DOID:1933 Rubinstein-Taybi syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 PMID:25741868|PMID:28492532 10050565 CV192117 NM_004380.3(CREBBP):c.3698+7G>A variant DOID:9008974 Menke-Hennekam Syndrome 1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Menke-Hennekam syndrome 1 PMID:25741868|PMID:28492532 10050568 CV192120 NM_006059.4(LAMC3):c.3250G>C (p.Glu1084Gln) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10050568 CV192120 NM_006059.4(LAMC3):c.3250G>C (p.Glu1084Gln) variant DOID:9003313 Occipital Cortical Malformations IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Cortical malformations, occipital PMID:25741868|PMID:28492532 10050569 CV192121 NM_006059.4(LAMC3):c.3379G>A (p.Glu1127Lys) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10050569 CV192121 NM_006059.4(LAMC3):c.3379G>A (p.Glu1127Lys) variant DOID:9003313 Occipital Cortical Malformations IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Cortical malformations, occipital PMID:25741868|PMID:28492532 10050570 CV192122 NM_006343.3(MERTK):c.2593C>T (p.Arg865Trp) variant DOID:0110367 retinitis pigmentosa 38 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 38 PMID:15111602|PMID:28492532 10050570 CV192122 NM_006343.3(MERTK):c.2593C>T (p.Arg865Trp) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:15111602|PMID:28492532 10050571 CV192123 NM_006348.5(COG5):c.2092A>G (p.Met698Val) variant DOID:0070261 congenital disorder of glycosylation type IIi IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2i PMID:28492532 10050571 CV192123 NM_006348.5(COG5):c.2092A>G (p.Met698Val) variant DOID:630 genetic disease IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10050572 CV192126 NM_012470.4(TNPO3):c.2326A>G (p.Ile776Val) variant DOID:0110304 autosomal dominant limb-girdle muscular dystrophy type 2 IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1F PMID:25741868|PMID:28492532 10050572 CV192126 NM_012470.4(TNPO3):c.2326A>G (p.Ile776Val) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10050573 CV192127 NM_013382.7(POMT2):c.1903G>A (p.Val635Ile) variant DOID:0111237 congenital muscular dystrophy-dystroglycanopathy type A1 IAGP D RGD:8554872 20190702 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 PMID:17559086|PMID:25741868|PMID:26467025|PMID:28492532 10050573 CV192127 NM_013382.7(POMT2):c.1903G>A (p.Val635Ile) variant DOID:0111240 congenital muscular dystrophy-dystroglycanopathy type A2 IAGP D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 PMID:17559086|PMID:25741868|PMID:26467025|PMID:28492532 10050574 CV192128 NM_013382.7(POMT2):c.1958C>T (p.Pro653Leu) variant DOID:0111240 congenital muscular dystrophy-dystroglycanopathy type A2 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 PMID:25741868|PMID:28492532 10050575 CV192129 NM_014141.6(CNTNAP2):c.3111C>T (p.Pro1037=) variant DOID:0090130 cortical dysplasia-focal epilepsy syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 1 PMID:28492532 10050575 CV192129 NM_014141.6(CNTNAP2):c.3111C>T (p.Pro1037=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10050576 CV192131 NM_001365951.3(KIF1B):c.2001G>A (p.Leu667=) variant DOID:0050539 Charcot-Marie-Tooth disease type 2 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 10050579 CV192136 NM_015386.3(COG4):c.2310C>G (p.Arg770=) variant DOID:0070262 congenital disorder of glycosylation type IIj IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2J PMID:28492532 10050580 CV192137 NM_017534.6(MYH2):c.2106C>T (p.Asn702=) variant DOID:0080719 congenital myopathy 6 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia PMID:25741868|PMID:28492532 10050583 CV192143 NM_020822.3(KCNT1):c.2214G>A (p.Pro738=) variant DOID:0080439 developmental and epileptic encephalopathy 14 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:26467025|PMID:28492532 10050583 CV192143 NM_020822.3(KCNT1):c.2214G>A (p.Pro738=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532 10050584 CV192144 NM_020822.3(KCNT1):c.2052G>A (p.Thr684=) variant DOID:0080439 developmental and epileptic encephalopathy 14 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:28492532 10050584 CV192144 NM_020822.3(KCNT1):c.2052G>A (p.Thr684=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10050585 CV192145 NM_020822.3(KCNT1):c.2217G>A (p.Ser739=) variant DOID:0080439 developmental and epileptic encephalopathy 14 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:28492532 10050585 CV192145 NM_020822.3(KCNT1):c.2217G>A (p.Ser739=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10050587 CV192149 NM_024408.4(NOTCH2):c.3046G>A (p.Gly1016Ser) variant DOID:2736 Hajdu-Cheney syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hajdu-Cheney syndrome PMID:25741868|PMID:28492532 10050587 CV192149 NM_024408.4(NOTCH2):c.3046G>A (p.Gly1016Ser) variant DOID:9000812 Acroosteolysis Dominant Type IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Acroosteolysis dominant type PMID:25741868|PMID:28492532 10050587 CV192149 NM_024408.4(NOTCH2):c.3046G>A (p.Gly1016Ser) variant DOID:9008932 ALAGILLE SYNDROME 2 IAGP D RGD:8554872 20240213 ClinVar ClinVar Annotator: match by term: Alagille syndrome 2 PMID:25741868|PMID:28492532 10050588 CV192151 NM_030962.4(SBF2):c.2323G>A (p.Gly775Ser) variant DOID:0050541 Charcot-Marie-Tooth disease type 4 IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 PMID:25741868|PMID:26467025|PMID:28492532|PMID:37091313 10050588 CV192151 NM_030962.4(SBF2):c.2323G>A (p.Gly775Ser) variant DOID:0110190 Charcot-Marie-Tooth disease type 4B2 IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4B2 PMID:25741868|PMID:26467025|PMID:28492532|PMID:37091313 10050588 CV192151 NM_030962.4(SBF2):c.2323G>A (p.Gly775Ser) variant DOID:10595 Charcot-Marie-Tooth disease IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:25741868|PMID:26467025|PMID:28492532|PMID:37091313 10050588 CV192151 NM_030962.4(SBF2):c.2323G>A (p.Gly775Ser) variant DOID:630 genetic disease IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532|PMID:37091313 10050589 CV192154 NM_001379081.2(FREM1):c.3147C>T (p.Ser1049=) variant DOID:9003259 Marles Greenberg Persaud Syndrome IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Manitoba Trichoanal syndrome PMID:28492532 10050591 CV192156 NM_181426.2(CCDC39):c.2660dup (p.Ser888fs) variant DOID:9562 primary ciliary dyskinesia IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:25741868|PMID:28492532 10050592 CV192157 NM_198428.3(BBS9):c.2105C>A (p.Thr702Asn) variant DOID:0110131 Bardet-Biedl syndrome 9 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: BBS9-related condition PMID:28492532 10050592 CV192157 NM_198428.3(BBS9):c.2105C>A (p.Thr702Asn) variant DOID:1935 Bardet-Biedl syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 10050593 CV192158 NM_198525.3(KIF7):c.3998C>A (p.Pro1333Gln) variant DOID:1059 intellectual disability IAGP D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:21633164|PMID:25741868|PMID:28492532 10050593 CV192158 NM_198525.3(KIF7):c.3998C>A (p.Pro1333Gln) variant DOID:9250 acrocallosal syndrome IAGP D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Acrocallosal syndrome PMID:21633164|PMID:25741868|PMID:28492532 10050594 CV192159 NM_198525.3(KIF7):c.3665-5G>A variant DOID:9250 acrocallosal syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Acrocallosal syndrome PMID:25741868|PMID:28492532 10050595 CV192160 NM_198525.3(KIF7):c.3914G>A (p.Arg1305Gln) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10050595 CV192160 NM_198525.3(KIF7):c.3914G>A (p.Arg1305Gln) variant DOID:9250 acrocallosal syndrome IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Acrocallosal syndrome, Schinzel type PMID:28492532 10050596 CV192161 NM_198525.3(KIF7):c.3795G>A (p.Thr1265=) variant DOID:9250 acrocallosal syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Schinzel syndrome 1 PMID:28492532 10050597 CV192162 NM_198525.3(KIF7):c.3944C>T (p.Pro1315Leu) variant DOID:9250 acrocallosal syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Acrocallosal syndrome PMID:28492532 10050598 CV192163 NM_201384.3(PLEC):c.2237G>A (p.Arg746His) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:26467025|PMID:26498160|PMID:28492532|PMID:31862442 10050599 CV192166 NM_213599.3(ANO5):c.2141C>G (p.Thr714Ser) variant DOID:0110284 autosomal recessive limb-girdle muscular dystrophy type 2L IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2L PMID:22402862|PMID:25741868|PMID:25891276|PMID:26467025|PMID:27884173|PMID:28492532|PMID:30564623|PMID:32403337|PMID:33023636|PMID:34426522|PMID:35239206|PMID:36352632|PMID:36913258 10050599 CV192166 NM_213599.3(ANO5):c.2141C>G (p.Thr714Ser) variant DOID:0111533 gnathodiaphyseal dysplasia IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Gnathodiaphyseal dysplasia PMID:22402862|PMID:25741868|PMID:25891276|PMID:26467025|PMID:27884173|PMID:28492532|PMID:30564623|PMID:32403337|PMID:33023636|PMID:34426522|PMID:35239206|PMID:36352632|PMID:36913258 10050600 CV192167 NM_001267550.2(TTN):c.44588C>T (p.Thr14863Met) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Salih Myopathy PMID:25741868 10050600 CV192167 NM_001267550.2(TTN):c.44588C>T (p.Thr14863Met) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10 PMID:25741868 10050600 CV192167 NM_001267550.2(TTN):c.44588C>T (p.Thr14863Met) variant DOID:0110315 hypertrophic cardiomyopathy 9 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 9 PMID:25741868 10050600 CV192167 NM_001267550.2(TTN):c.44588C>T (p.Thr14863Met) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:25741868 10050600 CV192167 NM_001267550.2(TTN):c.44588C>T (p.Thr14863Met) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Udd Distal Myopathy PMID:25741868 10050600 CV192167 NM_001267550.2(TTN):c.44588C>T (p.Thr14863Met) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant PMID:25741868 10050601 CV192168 NM_001267550.2(TTN):c.46451G>A (p.Arg15484Lys) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23396983|PMID:24033266|PMID:24476948|PMID:25741868|PMID:26383259|PMID:26467025|PMID:28492532 10050601 CV192168 NM_001267550.2(TTN):c.46451G>A (p.Arg15484Lys) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:23396983|PMID:24033266|PMID:24476948|PMID:25741868|PMID:26383259|PMID:26467025|PMID:28492532 10050601 CV192168 NM_001267550.2(TTN):c.46451G>A (p.Arg15484Lys) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23396983|PMID:24033266|PMID:24476948|PMID:25741868|PMID:26383259|PMID:26467025|PMID:28492532 10050602 CV192169 NM_000026.4(ADSL):c.247C>T (p.Arg83Cys) variant DOID:0050762 adenylosuccinase lyase deficiency IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:28492532 10050603 CV192170 NM_000026.4(ADSL):c.307G>T (p.Ala103Ser) variant DOID:630 genetic disease IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10050604 CV192171 NM_000059.4(BRCA2):c.16A>C (p.Lys6Gln) variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:28492532 10050605 CV192172 NM_000067.3(CA2):c.35-7C>A variant DOID:0110941 autosomal recessive osteopetrosis 3 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Osteopetrosis with renal tubular acidosis PMID:25741868|PMID:28492532 10050607 CV192177 NM_000100.4(CSTB):c.121G>A (p.Val41Met) variant DOID:3535 Unverricht-Lundborg syndrome IAGP D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Unverricht-Lundborg syndrome PMID:25741868|PMID:26467025|PMID:28492532 10050607 CV192177 NM_000100.4(CSTB):c.121G>A (p.Val41Met) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 10050607 CV192177 NM_000100.4(CSTB):c.121G>A (p.Val41Met) variant DOID:891 progressive myoclonus epilepsy IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:25741868|PMID:26467025|PMID:28492532 10050607 CV192177 NM_000100.4(CSTB):c.121G>A (p.Val41Met) variant DOID:9005154 Myoclonic Epilepsies IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Myoclonus epilepsy PMID:25741868|PMID:26467025|PMID:28492532 10050608 CV192178 NM_000104.4(CYP1B1):c.45G>T (p.Pro15=) variant DOID:11211 buphthalmos IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Congenital glaucoma PMID:28492532 10050609 CV192179 NM_000112.4(SLC26A2):c.24A>G (p.Gln8=) variant DOID:0080055 achondrogenesis type IB IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IB PMID:28492532 10050611 CV192181 NM_000152.5(GAA):c.318C>T (p.Arg106=) variant DOID:2752 glycogen storage disease II IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type II PMID:25741868|PMID:28492532 10050611 CV192181 NM_000152.5(GAA):c.318C>T (p.Arg106=) variant DOID:9001828 Cardiac Form of Generalized Glycogenosis IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomegalia glycogenica diffusa PMID:25741868|PMID:28492532 10050613 CV192184 NM_000156.6(GAMT):c.227C>T (p.Ser76Leu) variant DOID:0050798 cerebral creatine deficiency syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome PMID:25741868|PMID:26003046|PMID:26319512|PMID:28492532|PMID:28758966 10050613 CV192184 NM_000156.6(GAMT):c.227C>T (p.Ser76Leu) variant DOID:0050799 guanidinoacetate methyltransferase deficiency IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 PMID:25741868|PMID:26003046|PMID:26319512|PMID:28492532|PMID:28758966 10050613 CV192184 NM_000156.6(GAMT):c.227C>T (p.Ser76Leu) variant DOID:630 genetic disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26003046|PMID:26319512|PMID:28492532|PMID:28758966 10050614 CV192185 NM_000158.4(GBE1):c.170A>G (p.Lys57Arg) variant DOID:2750 glycogen storage disease IV IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type IV PMID:28492532 10050614 CV192185 NM_000158.4(GBE1):c.170A>G (p.Lys57Arg) variant DOID:630 genetic disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10050615 CV192188 NM_000169.3(GLA):c.369+1G>A variant DOID:14499 Fabry disease IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Angiokeratoma corporis diffusum PMID:10916280|PMID:25741868|PMID:29186537|PMID:30988410|PMID:31010832 10050617 CV192191 NM_000180.4(GUCY2D):c.271G>C (p.Ala91Pro) variant DOID:0110078 Leber congenital amaurosis 1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: AMAUROSIS CONGENITA OF LEBER I PMID:28492532 10050617 CV192191 NM_000180.4(GUCY2D):c.271G>C (p.Ala91Pro) variant DOID:0111011 cone-rod dystrophy 6 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Retinal cone dystrophy 2 PMID:28492532 10050617 CV192191 NM_000180.4(GUCY2D):c.271G>C (p.Ala91Pro) variant DOID:14791 Leber congenital amaurosis IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Retinal blindness, congenital PMID:28492532 10050618 CV192192 NM_000180.4(GUCY2D):c.519C>T (p.Tyr173=) variant DOID:0111011 cone-rod dystrophy 6 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 6 PMID:28492532 10050619 CV192193 NM_000180.4(GUCY2D):c.369C>T (p.Gly123=) variant DOID:0110078 Leber congenital amaurosis 1 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: AMAUROSIS CONGENITA OF LEBER I PMID:28492532 10050619 CV192193 NM_000180.4(GUCY2D):c.369C>T (p.Gly123=) variant DOID:0111011 cone-rod dystrophy 6 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 6 PMID:28492532 10050619 CV192193 NM_000180.4(GUCY2D):c.369C>T (p.Gly123=) variant DOID:14791 Leber congenital amaurosis IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Retinal blindness, congenital PMID:28492532 10050621 CV192198 NM_000202.8(IDS):c.104A>G (p.Asp35Gly) variant DOID:0111395 mucopolysaccharidosis type IIIA IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-A PMID:25741868|PMID:28492532 10050621 CV192198 NM_000202.8(IDS):c.104A>G (p.Asp35Gly) variant DOID:12799 mucopolysaccharidosis II IAGP D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-II PMID:25741868|PMID:28492532 10050621 CV192198 NM_000202.8(IDS):c.104A>G (p.Asp35Gly) variant DOID:12801 mucopolysaccharidosis III IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Heparan sulfate sulfatase deficiency PMID:25741868|PMID:28492532 10050622 CV192200 NM_000203.5(IDUA):c.235G>A (p.Ala79Thr) variant DOID:0111390 mucopolysaccharidosis Ih IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Hurler syndrome PMID:25741868|PMID:27238910|PMID:27939258|PMID:28492532|PMID:32432561 10050622 CV192200 NM_000203.5(IDUA):c.235G>A (p.Ala79Thr) variant DOID:12802 mucopolysaccharidosis I IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 PMID:25741868|PMID:27238910|PMID:27939258|PMID:28492532|PMID:32432561 10050622 CV192200 NM_000203.5(IDUA):c.235G>A (p.Ala79Thr) variant DOID:585 nephrolithiasis IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Calcium oxalate nephrolithiasis PMID:25741868|PMID:27238910|PMID:27939258|PMID:28492532|PMID:32432561 10050623 CV192203 NM_000208.4(INSR):c.190T>C (p.Leu64=) variant DOID:0050470 Donohue syndrome IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Leprechaunism syndrome PMID:23705494|PMID:25741868|PMID:28492532|PMID:31989990|PMID:35000900 10050623 CV192203 NM_000208.4(INSR):c.190T>C (p.Leu64=) variant DOID:0070215 familial hyperinsulinemic hypoglycemia 4 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Hyperinsulinism due to glutamodehydrogenase deficiency PMID:23705494|PMID:25741868|PMID:28492532|PMID:31989990|PMID:35000900 10050623 CV192203 NM_000208.4(INSR):c.190T>C (p.Leu64=) variant DOID:0070220 familial hyperinsulinemic hypoglycemia 5 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia familial 5 PMID:23705494|PMID:25741868|PMID:28492532|PMID:31989990|PMID:35000900 10050623 CV192203 NM_000208.4(INSR):c.190T>C (p.Leu64=) variant DOID:9001751 Insulin-Resistant Diabetes Mellitus, with Acanthosis Nigricans IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: IRAN, TYPE A PMID:23705494|PMID:25741868|PMID:28492532|PMID:31989990|PMID:35000900 10050623 CV192203 NM_000208.4(INSR):c.190T>C (p.Leu64=) variant DOID:9001863 PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Rabson-Mendenhall syndrome PMID:23705494|PMID:25741868|PMID:28492532|PMID:31989990|PMID:35000900 10050623 CV192203 NM_000208.4(INSR):c.190T>C (p.Leu64=) variant DOID:9007692 Insulin Resistance IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Insulin-resistance syndrome type A PMID:23705494|PMID:25741868|PMID:28492532|PMID:31989990|PMID:35000900 10050624 CV192204 NM_000217.3(KCNA1):c.1327C>G (p.Arg443Gly) variant DOID:0050989 episodic ataxia type 1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: PAROXYSMAL ATAXIA WITH NEUROMYOTONIA, HEREDITARY PMID:26467025|PMID:28492532 10050624 CV192204 NM_000217.3(KCNA1):c.1327C>G (p.Arg443Gly) variant DOID:630 genetic disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532 10050625 CV192205 NM_000217.3(KCNA1):c.*9G>A variant DOID:0050989 episodic ataxia type 1 IAGP D RGD:8554872 20211109 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 1 PMID:25741868|PMID:26467025 10050625 CV192205 NM_000217.3(KCNA1):c.*9G>A variant DOID:9003935 Myokymia IAGP D RGD:8554872 20211109 ClinVar ClinVar Annotator: match by term: Myokymia PMID:25741868|PMID:26467025 10050627 CV192209 NM_000231.3(SGCG):c.58A>G (p.Asn20Asp) variant DOID:0110277 autosomal recessive limb-girdle muscular dystrophy type 2C IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2C PMID:25741868|PMID:26467025|PMID:28492532 10050628 CV192210 NM_000232.5(SGCB):c.34-3T>G variant DOID:0110279 autosomal recessive limb-girdle muscular dystrophy type 2E IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2E PMID:17576681|PMID:28492532|PMID:9536098 10050630 CV192216 NM_000274.4(OAT):c.199+4C>T variant DOID:1415 gyrate atrophy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ornithine aminotransferase deficiency PMID:17576681|PMID:28492532|PMID:9536098 10050631 CV192217 NM_000275.3(OCA2):c.45G>A (p.Pro15=) variant DOID:0070096 oculocutaneous albinism type II IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Tyrosinase-positive oculocutaneous albinism PMID:25741868|PMID:28492532 10050632 CV192218 NM_000283.4(PDE6B):c.485C>T (p.Ser162Leu) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532 10050637 CV192223 NM_000314.8(PTEN):c.122G>T (p.Arg41Ile) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome 10050638 CV192224 NM_000322.5(PRPH2):c.725A>G (p.Glu242Gly) variant DOID:0050439 Usher syndrome IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:25741868|PMID:28492532|PMID:32531846 10050638 CV192224 NM_000322.5(PRPH2):c.725A>G (p.Glu242Gly) variant DOID:0050817 Stargardt disease IAGP D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Stargardt disease PMID:25741868|PMID:28492532|PMID:32531846 10050638 CV192224 NM_000322.5(PRPH2):c.725A>G (p.Glu242Gly) variant DOID:9006630 Stargardt Disease 1 IAGP D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Fundus flavimaculatus PMID:25741868|PMID:28492532|PMID:32531846 10050639 CV192225 NM_000327.4(ROM1):c.812T>C (p.Met271Thr) variant DOID:0110383 retinitis pigmentosa 7 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 7 PMID:16799052|PMID:25741868|PMID:28492532|PMID:7904211 10050639 CV192225 NM_000327.4(ROM1):c.812T>C (p.Met271Thr) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:16799052|PMID:25741868|PMID:28492532|PMID:7904211 10050639 CV192225 NM_000327.4(ROM1):c.812T>C (p.Met271Thr) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16799052|PMID:25741868|PMID:28492532|PMID:7904211 10050640 CV192226 NM_000327.4(ROM1):c.686G>A (p.Arg229His) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:20335603|PMID:25741868|PMID:28492532|PMID:3442652 10050640 CV192226 NM_000327.4(ROM1):c.686G>A (p.Arg229His) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:20335603|PMID:25741868|PMID:28492532|PMID:3442652 10050645 CV192233 NM_000399.5(EGR2):c.442C>T (p.Pro148Ser) variant DOID:0050538 Charcot-Marie-Tooth disease type 1 IAGP D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:28492532 10050645 CV192233 NM_000399.5(EGR2):c.442C>T (p.Pro148Ser) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10050646 CV192234 NM_000399.5(EGR2):c.679C>T (p.Pro227Ser) variant DOID:0050538 Charcot-Marie-Tooth disease type 1 IAGP D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I PMID:28492532 10050648 CV192242 NM_000520.6(HEXA):c.298G>T (p.Val100Phe) variant DOID:3320 Tay-Sachs disease IAGP D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:28492532 10050649 CV192243 NM_000521.4(HEXB):c.311A>G (p.Tyr104Cys) variant DOID:3323 Sandhoff disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Sandhoff disease PMID:25741868|PMID:28492532 10050649 CV192243 NM_000521.4(HEXB):c.311A>G (p.Tyr104Cys) variant DOID:630 genetic disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10050650 CV192244 NM_000540.3(RYR1):c.94C>T (p.Leu32Phe) variant DOID:8545 malignant hyperthermia IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Malignant hyperpyrexia PMID:25741868|PMID:28492532 10050650 CV192244 NM_000540.3(RYR1):c.94C>T (p.Leu32Phe) variant DOID:9005320 Malignant Fever IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Pharmacogenic myopathy PMID:25741868|PMID:28492532 10050652 CV192246 NM_000543.5(SMPD1):c.872G>A (p.Arg291His) variant DOID:0070111 Niemann-Pick disease type A IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis PMID:12369017|PMID:15877209|PMID:17011332|PMID:20111001|PMID:25741868|PMID:26499107|PMID:26981555|PMID:28259515|PMID:28492532|PMID:28590786|PMID:29556840|PMID:30788890|PMID:30795770 10050652 CV192246 NM_000543.5(SMPD1):c.872G>A (p.Arg291His) variant DOID:0070112 Niemann-Pick disease type B IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis PMID:12369017|PMID:15877209|PMID:17011332|PMID:20111001|PMID:25741868|PMID:26499107|PMID:26981555|PMID:28259515|PMID:28492532|PMID:28590786|PMID:29556840|PMID:30788890|PMID:30795770 10050652 CV192246 NM_000543.5(SMPD1):c.872G>A (p.Arg291His) variant DOID:14504 Niemann-Pick disease IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease PMID:12369017|PMID:15877209|PMID:17011332|PMID:20111001|PMID:25741868|PMID:26499107|PMID:26981555|PMID:28259515|PMID:28492532|PMID:28590786|PMID:29556840|PMID:30788890|PMID:30795770 10050652 CV192246 NM_000543.5(SMPD1):c.872G>A (p.Arg291His) variant DOID:630 genetic disease IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12369017|PMID:15877209|PMID:17011332|PMID:20111001|PMID:25741868|PMID:26499107|PMID:26981555|PMID:28259515|PMID:28492532|PMID:28590786|PMID:29556840|PMID:30788890|PMID:30795770 10050653 CV192251 NM_000543.5(SMPD1):c.753G>A (p.Lys251=) variant DOID:0070112 Niemann-Pick disease type B IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type B PMID:28492532 10050655 CV192256 NM_000618.5(IGF1):c.207G>A (p.Arg69=) variant DOID:9006877 Insulin-Like Growth Factor I Deficiency IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Growth retardation with sensorineural deafness and mental retardation PMID:22832530|PMID:28492532 10050656 CV192257 NM_000642.3(AGL):c.-10A>G variant DOID:2748 glycogen storage disease III IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Glycogen storage disease type III PMID:25741868 10050657 CV192259 NM_000719.7(CACNA1C):c.50-3C>T variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 10050658 CV192260 NM_000742.4(CHRNA2):c.24C>T (p.Phe8=) variant DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 10050659 CV192261 NM_000751.3(CHRND):c.117C>G (p.Asn39Lys) variant DOID:3635 congenital myasthenic syndrome IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome PMID:25741868|PMID:26467025|PMID:28492532 10050659 CV192261 NM_000751.3(CHRND):c.117C>G (p.Asn39Lys) variant DOID:9005962 Multiple Pterygium Syndrome, Lethal Type IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Lethal multiple pterygium syndrome PMID:25741868|PMID:26467025|PMID:28492532 10050660 CV192262 NM_000875.5(IGF1R):c.568C>T (p.Pro190Ser) variant DOID:9000145 IGF1R-RELATED DISORDER IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: IGF1R-related disorder PMID:28492532 10050661 CV192263 NM_001004127.3(ALG11):c.137T>C (p.Leu46Pro) variant DOID:0080567 congenital disorder of glycosylation Ip IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1P PMID:30676690 10050662 CV192265 NM_001005361.3(DNM2):c.216G>A (p.Gln72=) variant DOID:0110197 Charcot-Marie-Tooth disease dominant intermediate B IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE B PMID:28492532 10050662 CV192265 NM_001005361.3(DNM2):c.216G>A (p.Gln72=) variant DOID:630 genetic disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10050662 CV192265 NM_001005361.3(DNM2):c.216G>A (p.Gln72=) variant DOID:9008014 Charcot-Marie-Tooth Disease, Dominant Intermediate 1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate 1 PMID:28492532 10050666 CV192270 NM_001038603.3(MARVELD2):c.30G>A (p.Arg10=) variant DOID:0110506 autosomal recessive nonsyndromic deafness 49 IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 49 PMID:24033266|PMID:28492532 10050667 CV192271 NM_001083961.2(WDR62):c.189G>T (p.Glu63Asp) variant DOID:0070293 primary autosomal recessive microcephaly 2 with or without cortical malformations IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Primary autosomal recessive microcephaly 2 PMID:28492532 10050669 CV192280 NM_001367624.2(ZNF469):c.4952A>G (p.Gln1651Arg) variant DOID:13359 Ehlers-Danlos syndrome IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:25741868|PMID:28377322|PMID:28492532 10050669 CV192280 NM_001367624.2(ZNF469):c.4952A>G (p.Gln1651Arg) variant DOID:14775 brittle cornea syndrome 1 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility PMID:25741868|PMID:28377322|PMID:28492532 10050674 CV192287 NM_001367624.2(ZNF469):c.4421C>T (p.Ala1474Val) variant DOID:13359 Ehlers-Danlos syndrome IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:25741868|PMID:28492532 10050674 CV192287 NM_001367624.2(ZNF469):c.4421C>T (p.Ala1474Val) variant DOID:14775 brittle cornea syndrome 1 IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Brittle cornea syndrome 1 PMID:25741868|PMID:28492532 10050675 CV192288 NM_001130438.3(SPTAN1):c.131A>G (p.Tyr44Cys) variant DOID:0080438 developmental and epileptic encephalopathy 5 IAGP D RGD:8554872 20211109 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 5 PMID:25741868|PMID:28492532 10050675 CV192288 NM_001130438.3(SPTAN1):c.131A>G (p.Tyr44Cys) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20211109 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:25741868|PMID:28492532 10050676 CV192289 NM_001330078.2(NRXN1):c.24C>T (p.Arg8=) variant DOID:0111332 Pitt-Hopkins-like syndrome 2 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 PMID:28492532 10050676 CV192289 NM_001330078.2(NRXN1):c.24C>T (p.Arg8=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10050678 CV192291 NM_001330078.2(NRXN1):c.270G>T (p.Gln90His) variant DOID:0111332 Pitt-Hopkins-like syndrome 2 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 PMID:25741868|PMID:28492532 10050678 CV192291 NM_001330078.2(NRXN1):c.270G>T (p.Gln90His) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10050679 CV192292 NM_001165963.4(SCN1A):c.379C>G (p.His127Asp) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:25741868|PMID:28492532 10050679 CV192292 NM_001165963.4(SCN1A):c.379C>G (p.His127Asp) variant DOID:0111183 familial hemiplegic migraine 3 IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Migraine, familial hemiplegic, 3 PMID:25741868|PMID:28492532 10050679 CV192292 NM_001165963.4(SCN1A):c.379C>G (p.His127Asp) variant DOID:0111294 generalized epilepsy with febrile seizures plus 2 IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: GEFS+, TYPE 2 PMID:25741868|PMID:28492532 10050679 CV192292 NM_001165963.4(SCN1A):c.379C>G (p.His127Asp) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:25741868|PMID:28492532 10050679 CV192292 NM_001165963.4(SCN1A):c.379C>G (p.His127Asp) variant DOID:308 early myoclonic encephalopathy IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe PMID:25741868|PMID:28492532 10050680 CV192293 NM_001182.5(ALDH7A1):c.235A>G (p.Arg79Gly) variant DOID:0080768 pyridoxine-dependent epilepsy IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Pyridoxine-dependent epilepsy PMID:25741868|PMID:28492532 10050681 CV192294 NM_001199107.2(TBC1D24):c.-4C>T variant DOID:9007063 Myoclonic Epilepsy, Familial Infantile IAGP D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Myoclonic epilepsy, familial infantile PMID:24033266 10050682 CV192299 NM_001204.7(BMPR2):c.136A>G (p.Ile46Val) variant DOID:9009117 primary pulmonary hypertension 1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1 PMID:25741868 10050685 CV192304 NM_001235.5(SERPINH1):c.580C>A (p.Arg194Ser) variant DOID:0110346 osteogenesis imperfecta type 10 IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: OI, TYPE X PMID:25741868|PMID:28492532|PMID:32161841 10050685 CV192304 NM_001235.5(SERPINH1):c.580C>A (p.Arg194Ser) variant DOID:0111144 preterm premature rupture of the membranes IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Preterm premature rupture of the membranes PMID:25741868|PMID:28492532|PMID:32161841 10050687 CV192306 NM_001458.5(FLNC):c.597C>T (p.Ala199=) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:25741868|PMID:26467025|PMID:28492532 10050687 CV192306 NM_001458.5(FLNC):c.597C>T (p.Ala199=) variant DOID:0080096 myofibrillar myopathy 5 IAGP D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy, filamin C-related PMID:25741868|PMID:26467025|PMID:28492532 10050687 CV192306 NM_001458.5(FLNC):c.597C>T (p.Ala199=) variant DOID:0110327 hypertrophic cardiomyopathy 26 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 26 PMID:25741868|PMID:26467025|PMID:28492532 10050687 CV192306 NM_001458.5(FLNC):c.597C>T (p.Ala199=) variant DOID:0111190 distal myopathy 4 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Distal myopathy with posterior leg and anterior hand involvement PMID:25741868|PMID:26467025|PMID:28492532 10050687 CV192306 NM_001458.5(FLNC):c.597C>T (p.Ala199=) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant PMID:25741868|PMID:26467025|PMID:28492532 10050688 CV192307 NM_001701.4(BAAT):c.-6A>T variant DOID:0061180 familial hypercholanemia 3 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: BAAT-related condition 10050689 CV192308 NM_001701.4(BAAT):c.2T>A (p.Met1Lys) variant DOID:0061180 familial hypercholanemia 3 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Bile acid conjugation defect 1 PMID:25741868 10050690 CV192311 NM_001848.3(COL6A1):c.202C>T (p.Arg68Cys) variant DOID:0050663 Bethlem myopathy IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, benign congenital PMID:25741868|PMID:28492532 10050690 CV192311 NM_001848.3(COL6A1):c.202C>T (p.Arg68Cys) variant DOID:0060946 Ullrich congenital muscular dystrophy 1A IAGP D RGD:8554872 20230627 ClinVar ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1 PMID:25741868|PMID:28492532 10050690 CV192311 NM_001848.3(COL6A1):c.202C>T (p.Arg68Cys) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:25741868|PMID:28492532 10050691 CV192312 NM_001848.3(COL6A1):c.170C>A (p.Ala57Asp) variant DOID:0050663 Bethlem myopathy IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Collagen VI-related myopathy PMID:25741868|PMID:26467025|PMID:28492532 10050691 CV192312 NM_001848.3(COL6A1):c.170C>A (p.Ala57Asp) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:25741868|PMID:26467025|PMID:28492532 10050692 CV192313 NM_001849.4(COL6A2):c.22G>A (p.Val8Met) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:25741868|PMID:28492532 10050693 CV192317 NM_001909.5(CTSD):c.75G>A (p.Pro25=) variant DOID:0110725 neuronal ceroid lipofuscinosis 10 IAGP D RGD:8554872 20250819 ClinVar ClinVar Annotator: match by term: CTSD-related disorder PMID:28492532 10050693 CV192317 NM_001909.5(CTSD):c.75G>A (p.Pro25=) variant DOID:14503 neuronal ceroid lipofuscinosis IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 10050693 CV192317 NM_001909.5(CTSD):c.75G>A (p.Pro25=) variant DOID:630 genetic disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10050694 CV192319 NM_001918.5(DBT):c.137A>G (p.Lys46Arg) variant DOID:0061207 maple syrup urine disease type II IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease type 2 PMID:25741868 10050696 CV192321 NM_002103.5(GYS1):c.201G>A (p.Pro67=) variant DOID:9005648 Glycogen Storage Disease 0, Muscle IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscle glycogen synthase deficiency PMID:28492532 10050697 CV192322 NM_002180.3(IGHMBP2):c.229G>C (p.Ala77Pro) variant DOID:0111064 autosomal recessive distal hereditary motor neuronopathy 1 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy, distal, autosomal recessive, 1 PMID:28492532 10050698 CV192324 NM_002241.5(KCNJ10):c.124G>A (p.Glu42Lys) variant DOID:0060484 EAST syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: EAST syndrome PMID:28492532 10050700 CV192326 NM_002241.5(KCNJ10):c.530A>G (p.Glu177Gly) variant DOID:0060484 EAST syndrome IAGP D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: SeSAME syndrome PMID:25741868|PMID:28492532 10050700 CV192326 NM_002241.5(KCNJ10):c.530A>G (p.Glu177Gly) variant DOID:0110498 autosomal recessive nonsyndromic deafness 4 IAGP D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct PMID:25741868|PMID:28492532 10050700 CV192326 NM_002241.5(KCNJ10):c.530A>G (p.Glu177Gly) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10050701 CV192327 NM_002335.4(LRP5):c.266A>G (p.Gln89Arg) variant DOID:12347 osteogenesis imperfecta IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:25741868|PMID:28492532 10050703 CV192329 NM_002335.4(LRP5):c.295G>A (p.Val99Met) variant DOID:0060849 osteoporosis-pseudoglioma syndrome IAGP D RGD:8554872 20240213 ClinVar ClinVar Annotator: match by term: Pseudoglioma with bone fragility PMID:25741868|PMID:28492532 10050703 CV192329 NM_002335.4(LRP5):c.295G>A (p.Val99Met) variant DOID:0060977 polycystic liver disease 4 IAGP D RGD:8554872 20240213 ClinVar ClinVar Annotator: match by term: Polycystic liver disease 4 with or without kidney cysts PMID:25741868|PMID:28492532 10050703 CV192329 NM_002335.4(LRP5):c.295G>A (p.Val99Met) variant DOID:0080037 Worth syndrome IAGP D RGD:8554872 20240213 ClinVar ClinVar Annotator: match by term: Osteosclerosis autosomal dominant Worth type PMID:25741868|PMID:28492532 10050703 CV192329 NM_002335.4(LRP5):c.295G>A (p.Val99Met) variant DOID:0110937 autosomal dominant osteopetrosis 1 IAGP D RGD:8554872 20240213 ClinVar ClinVar Annotator: match by term: OSTEOPETROSIS, AUTOSOMAL DOMINANT, TYPE I PMID:25741868|PMID:28492532 10050703 CV192329 NM_002335.4(LRP5):c.295G>A (p.Val99Met) variant DOID:0111411 exudative vitreoretinopathy 4 IAGP D RGD:8554872 20240213 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 4 PMID:25741868|PMID:28492532 10050703 CV192329 NM_002335.4(LRP5):c.295G>A (p.Val99Met) variant DOID:0111412 exudative vitreoretinopathy 1 IAGP D RGD:8554872 20240213 ClinVar ClinVar Annotator: match by term: Familial exudative vitreoretinopathy, autosomal dominant PMID:25741868|PMID:28492532 10050703 CV192329 NM_002335.4(LRP5):c.295G>A (p.Val99Met) variant DOID:11476 osteoporosis IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bone mineral density quantitative trait locus 1 PMID:25741868|PMID:28492532 10050704 CV192332 NM_002381.5(MATN3):c.518C>A (p.Ala173Asp) variant DOID:12721 multiple epiphyseal dysplasia IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Multiple epiphyseal dysplasia PMID:18205203 10050705 CV192334 NM_002546.4(TNFRSF11B):c.148C>A (p.Leu50Ile) variant DOID:630 genetic disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10050706 CV192335 NM_002618.4(PEX13):c.229T>A (p.Ser77Thr) variant DOID:0080485 peroxisome biogenesis disorder 11A IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11A (Zellweger) PMID:25741868|PMID:28492532 10050707 CV192336 NM_002693.3(POLG):c.584T>C (p.Leu195Pro) variant DOID:0080122 Alpers-Huttenlocher syndrome IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy PMID:28492532 10050708 CV192337 NM_002693.3(POLG):c.114G>T (p.Gly38=) variant DOID:0080119 mitochondrial DNA depletion syndrome 1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 (MNGIE type) PMID:25741868|PMID:28492532 10050708 CV192337 NM_002693.3(POLG):c.114G>T (p.Gly38=) variant DOID:0080122 Alpers-Huttenlocher syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy PMID:25741868|PMID:28492532 10050708 CV192337 NM_002693.3(POLG):c.114G>T (p.Gly38=) variant DOID:0080123 mitochondrial DNA depletion syndrome 4B IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4B, MNGIE type PMID:25741868|PMID:28492532 10050708 CV192337 NM_002693.3(POLG):c.114G>T (p.Gly38=) variant DOID:0080127 mitochondrial DNA depletion syndrome 8A IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION PMID:25741868|PMID:28492532 10050708 CV192337 NM_002693.3(POLG):c.114G>T (p.Gly38=) variant DOID:0111276 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE PMID:25741868|PMID:28492532 10050708 CV192337 NM_002693.3(POLG):c.114G>T (p.Gly38=) variant DOID:0111521 autosomal dominant progressive external ophthalmoplegia 1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1 PMID:25741868|PMID:28492532 10050708 CV192337 NM_002693.3(POLG):c.114G>T (p.Gly38=) variant DOID:0111522 autosomal recessive progressive external ophthalmoplegia 1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Progressive external ophthalmoplegia, autosomal recessive 1 PMID:25741868|PMID:28492532 10050708 CV192337 NM_002693.3(POLG):c.114G>T (p.Gly38=) variant DOID:9001263 Mitochondrial DNA Depletion Syndrome, MNGIE Type IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION PMID:25741868|PMID:28492532 10050708 CV192337 NM_002693.3(POLG):c.114G>T (p.Gly38=) variant DOID:9008631 progressive myoclonus epilepsy 5 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5 PMID:25741868|PMID:28492532 10050709 CV192338 NM_002693.3(POLG):c.131A>G (p.Gln44Arg) variant DOID:0080119 mitochondrial DNA depletion syndrome 1 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 (MNGIE type) PMID:25741868|PMID:28480171|PMID:28492532 10050709 CV192338 NM_002693.3(POLG):c.131A>G (p.Gln44Arg) variant DOID:0080122 Alpers-Huttenlocher syndrome IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy PMID:25741868|PMID:28480171|PMID:28492532 10050709 CV192338 NM_002693.3(POLG):c.131A>G (p.Gln44Arg) variant DOID:0080123 mitochondrial DNA depletion syndrome 4B IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4B, MNGIE type PMID:25741868|PMID:28480171|PMID:28492532 10050709 CV192338 NM_002693.3(POLG):c.131A>G (p.Gln44Arg) variant DOID:0080127 mitochondrial DNA depletion syndrome 8A IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION PMID:25741868|PMID:28480171|PMID:28492532 10050709 CV192338 NM_002693.3(POLG):c.131A>G (p.Gln44Arg) variant DOID:0111276 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE PMID:25741868|PMID:28480171|PMID:28492532 10050709 CV192338 NM_002693.3(POLG):c.131A>G (p.Gln44Arg) variant DOID:0111521 autosomal dominant progressive external ophthalmoplegia 1 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1 PMID:25741868|PMID:28480171|PMID:28492532 10050709 CV192338 NM_002693.3(POLG):c.131A>G (p.Gln44Arg) variant DOID:0111522 autosomal recessive progressive external ophthalmoplegia 1 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Progressive external ophthalmoplegia, autosomal recessive 1 PMID:25741868|PMID:28480171|PMID:28492532 10050709 CV192338 NM_002693.3(POLG):c.131A>G (p.Gln44Arg) variant DOID:630 genetic disease IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28480171|PMID:28492532 10050709 CV192338 NM_002693.3(POLG):c.131A>G (p.Gln44Arg) variant DOID:9001263 Mitochondrial DNA Depletion Syndrome, MNGIE Type IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION PMID:25741868|PMID:28480171|PMID:28492532 10050709 CV192338 NM_002693.3(POLG):c.131A>G (p.Gln44Arg) variant DOID:9008631 progressive myoclonus epilepsy 5 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5 PMID:25741868|PMID:28480171|PMID:28492532 10050710 CV192339 NM_002693.3(POLG):c.603C>T (p.Val201=) variant DOID:0080122 Alpers-Huttenlocher syndrome IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy PMID:28492532 10050711 CV192343 NM_002693.3(POLG):c.32G>A (p.Gly11Asp) variant DOID:0080119 mitochondrial DNA depletion syndrome 1 IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 PMID:17950645|PMID:18487244|PMID:18546365|PMID:19103152|PMID:19251978|PMID:19862739|PMID:20818383|PMID:21259344|PMID:21484424|PMID:21880868|PMID:22494076|PMID:23084792|PMID:23430834|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31085725|PMID:32391929|PMID:32445240|PMID:33233646|PMID:34052969|PMID:34670123|PMID:37184518 10050711 CV192343 NM_002693.3(POLG):c.32G>A (p.Gly11Asp) variant DOID:0080122 Alpers-Huttenlocher syndrome IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy PMID:17950645|PMID:18487244|PMID:18546365|PMID:19103152|PMID:19251978|PMID:19862739|PMID:20818383|PMID:21259344|PMID:21484424|PMID:21880868|PMID:22494076|PMID:23084792|PMID:23430834|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31085725|PMID:32391929|PMID:32445240|PMID:33233646|PMID:34052969|PMID:34670123|PMID:37184518 10050711 CV192343 NM_002693.3(POLG):c.32G>A (p.Gly11Asp) variant DOID:0080123 mitochondrial DNA depletion syndrome 4B IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4b PMID:17950645|PMID:18487244|PMID:18546365|PMID:19103152|PMID:19251978|PMID:19862739|PMID:20818383|PMID:21259344|PMID:21484424|PMID:21880868|PMID:22494076|PMID:23084792|PMID:23430834|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31085725|PMID:32391929|PMID:32445240|PMID:33233646|PMID:34052969|PMID:34670123|PMID:37184518 10050711 CV192343 NM_002693.3(POLG):c.32G>A (p.Gly11Asp) variant DOID:0080127 mitochondrial DNA depletion syndrome 8A IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION PMID:17950645|PMID:18487244|PMID:18546365|PMID:19103152|PMID:19251978|PMID:19862739|PMID:20818383|PMID:21259344|PMID:21484424|PMID:21880868|PMID:22494076|PMID:23084792|PMID:23430834|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31085725|PMID:32391929|PMID:32445240|PMID:33233646|PMID:34052969|PMID:34670123|PMID:37184518 10050711 CV192343 NM_002693.3(POLG):c.32G>A (p.Gly11Asp) variant DOID:0111276 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis PMID:17950645|PMID:18487244|PMID:18546365|PMID:19103152|PMID:19251978|PMID:19862739|PMID:20818383|PMID:21259344|PMID:21484424|PMID:21880868|PMID:22494076|PMID:23084792|PMID:23430834|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31085725|PMID:32391929|PMID:32445240|PMID:33233646|PMID:34052969|PMID:34670123|PMID:37184518 10050711 CV192343 NM_002693.3(POLG):c.32G>A (p.Gly11Asp) variant DOID:0111521 autosomal dominant progressive external ophthalmoplegia 1 IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 PMID:17950645|PMID:18487244|PMID:18546365|PMID:19103152|PMID:19251978|PMID:19862739|PMID:20818383|PMID:21259344|PMID:21484424|PMID:21880868|PMID:22494076|PMID:23084792|PMID:23430834|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31085725|PMID:32391929|PMID:32445240|PMID:33233646|PMID:34052969|PMID:34670123|PMID:37184518 10050711 CV192343 NM_002693.3(POLG):c.32G>A (p.Gly11Asp) variant DOID:0111522 autosomal recessive progressive external ophthalmoplegia 1 IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1 PMID:17950645|PMID:18487244|PMID:18546365|PMID:19103152|PMID:19251978|PMID:19862739|PMID:20818383|PMID:21259344|PMID:21484424|PMID:21880868|PMID:22494076|PMID:23084792|PMID:23430834|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31085725|PMID:32391929|PMID:32445240|PMID:33233646|PMID:34052969|PMID:34670123|PMID:37184518 10050711 CV192343 NM_002693.3(POLG):c.32G>A (p.Gly11Asp) variant DOID:1059 intellectual disability IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:17950645|PMID:18487244|PMID:18546365|PMID:19103152|PMID:19251978|PMID:19862739|PMID:20818383|PMID:21259344|PMID:21484424|PMID:21880868|PMID:22494076|PMID:23084792|PMID:23430834|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31085725|PMID:32391929|PMID:32445240|PMID:33233646|PMID:34052969|PMID:34670123|PMID:37184518 10050711 CV192343 NM_002693.3(POLG):c.32G>A (p.Gly11Asp) variant DOID:2476 hereditary spastic paraplegia IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:17950645|PMID:18487244|PMID:18546365|PMID:19103152|PMID:19251978|PMID:19862739|PMID:20818383|PMID:21259344|PMID:21484424|PMID:21880868|PMID:22494076|PMID:23084792|PMID:23430834|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31085725|PMID:32391929|PMID:32445240|PMID:33233646|PMID:34052969|PMID:34670123|PMID:37184518 10050711 CV192343 NM_002693.3(POLG):c.32G>A (p.Gly11Asp) variant DOID:630 genetic disease IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17950645|PMID:18487244|PMID:18546365|PMID:19103152|PMID:19251978|PMID:19862739|PMID:20818383|PMID:21259344|PMID:21484424|PMID:21880868|PMID:22494076|PMID:23084792|PMID:23430834|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31085725|PMID:32391929|PMID:32445240|PMID:33233646|PMID:34052969|PMID:34670123|PMID:37184518 10050711 CV192343 NM_002693.3(POLG):c.32G>A (p.Gly11Asp) variant DOID:9001263 Mitochondrial DNA Depletion Syndrome, MNGIE Type IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION PMID:17950645|PMID:18487244|PMID:18546365|PMID:19103152|PMID:19251978|PMID:19862739|PMID:20818383|PMID:21259344|PMID:21484424|PMID:21880868|PMID:22494076|PMID:23084792|PMID:23430834|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31085725|PMID:32391929|PMID:32445240|PMID:33233646|PMID:34052969|PMID:34670123|PMID:37184518 10050711 CV192343 NM_002693.3(POLG):c.32G>A (p.Gly11Asp) variant DOID:9008631 progressive myoclonus epilepsy 5 IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5 PMID:17950645|PMID:18487244|PMID:18546365|PMID:19103152|PMID:19251978|PMID:19862739|PMID:20818383|PMID:21259344|PMID:21484424|PMID:21880868|PMID:22494076|PMID:23084792|PMID:23430834|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31085725|PMID:32391929|PMID:32445240|PMID:33233646|PMID:34052969|PMID:34670123|PMID:37184518 10050712 CV192345 NM_002900.3(RBP3):c.3062C>A (p.Ser1021Tyr) variant DOID:0110393 retinitis pigmentosa 66 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 66 PMID:19074801|PMID:28492532 10050713 CV192346 NM_002951.5(RPN2):c.196C>T (p.Pro66Ser) variant DOID:5212 congenital disorder of glycosylation IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:28492532 10050717 CV192350 NM_002968.3(SALL1):c.2283G>C (p.Pro761=) variant DOID:0050887 Townes-Brocks syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Townes-Brocks syndrome 1 PMID:25741868 10050718 CV192351 NM_002968.3(SALL1):c.3120A>G (p.Thr1040=) variant DOID:0050887 Townes-Brocks syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Townes-Brocks syndrome 1 PMID:25741868|PMID:28492532 10050720 CV192355 NM_003119.4(SPG7):c.234G>T (p.Leu78Phe) variant DOID:0110816 hereditary spastic paraplegia 7 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 7 PMID:28492532 10050721 CV192356 NM_003413.4(ZIC3):c.1194G>T (p.Thr398=) variant DOID:0051016 visceral heterotaxy 1 IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked PMID:28492532 10050723 CV192358 NM_003630.3(PEX3):c.165A>G (p.Gln55=) variant DOID:0080484 peroxisome biogenesis disorder 10A IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 10A PMID:28492532 10050724 CV192359 NM_003673.4(TCAP):c.270G>A (p.Pro90=) variant DOID:0080326 familial hypertrophic cardiomyopathy IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy PMID:28492532 10050724 CV192359 NM_003673.4(TCAP):c.270G>A (p.Pro90=) variant DOID:0110307 hypertrophic cardiomyopathy 1 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:28492532 10050724 CV192359 NM_003673.4(TCAP):c.270G>A (p.Pro90=) variant DOID:0110328 hypertrophic cardiomyopathy 25 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1N PMID:28492532 10050725 CV192360 NM_003673.4(TCAP):c.389G>A (p.Arg130His) variant DOID:0080326 familial hypertrophic cardiomyopathy IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy PMID:25741868|PMID:28492532|PMID:30847666 10050725 CV192360 NM_003673.4(TCAP):c.389G>A (p.Arg130His) variant DOID:0110281 autosomal recessive limb-girdle muscular dystrophy type 2G IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2G PMID:25741868|PMID:28492532|PMID:30847666 10050725 CV192360 NM_003673.4(TCAP):c.389G>A (p.Arg130His) variant DOID:0110307 hypertrophic cardiomyopathy 1 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:25741868|PMID:28492532|PMID:30847666 10050725 CV192360 NM_003673.4(TCAP):c.389G>A (p.Arg130His) variant DOID:0110328 hypertrophic cardiomyopathy 25 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25 PMID:25741868|PMID:28492532|PMID:30847666 10050727 CV192365 NM_004004.6(GJB2):c.380G>T (p.Arg127Leu) variant DOID:0110475 autosomal recessive nonsyndromic deafness 1A IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1A PMID:17041943|PMID:24033266|PMID:25388846|PMID:25741868|PMID:26346709|PMID:26467025|PMID:26540915|PMID:26749107|PMID:28492532|PMID:29773520|PMID:30245029|PMID:32596493|PMID:34599368 10050728 CV192367 NM_004004.6(GJB2):c.120A>C (p.Ala40=) variant DOID:0110475 autosomal recessive nonsyndromic deafness 1A IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1A PMID:19125024|PMID:20650534|PMID:28492532 10050728 CV192367 NM_004004.6(GJB2):c.120A>C (p.Ala40=) variant DOID:0110564 autosomal dominant nonsyndromic deafness 3A IAGP D RGD:8554872 20250723 ClinVar ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 3A PMID:19125024|PMID:20650534|PMID:28492532 10050728 CV192367 NM_004004.6(GJB2):c.120A>C (p.Ala40=) variant DOID:9008762 HID Syndrome IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: HID SYNDROME PMID:19125024|PMID:20650534|PMID:28492532 10050730 CV192371 NM_004006.3(DMD):c.78T>G (p.Asn26Lys) variant DOID:11723 Duchenne muscular dystrophy IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:25741868|PMID:28492532 10050731 CV192372 NM_004172.5(SLC1A3):c.28A>G (p.Lys10Glu) variant DOID:0050994 episodic ataxia type 6 IAGP D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 6 PMID:25741868|PMID:28492532 10050732 CV192373 NM_004281.4(BAG3):c.487C>T (p.Pro163Ser) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:25741868|PMID:28492532 10050732 CV192373 NM_004281.4(BAG3):c.487C>T (p.Pro163Ser) variant DOID:0080097 myofibrillar myopathy 6 IAGP D RGD:8554872 20191008 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy, BAG3-related PMID:25741868|PMID:28492532 10050732 CV192373 NM_004281.4(BAG3):c.487C>T (p.Pro163Ser) variant DOID:0110448 dilated cardiomyopathy 1HH IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1HH PMID:25741868|PMID:28492532 10050733 CV192375 NM_004287.5(GOSR2):c.57G>A (p.Met19Ile) variant DOID:630 genetic disease IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 10050733 CV192375 NM_004287.5(GOSR2):c.57G>A (p.Met19Ile) variant DOID:891 progressive myoclonus epilepsy IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:25741868|PMID:26467025|PMID:28492532 10050735 CV192377 NM_004380.3(CREBBP):c.711C>T (p.Ser237=) variant DOID:1933 Rubinstein-Taybi syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:28492532 10050736 CV192378 NM_004380.3(CREBBP):c.586A>G (p.Ser196Gly) variant DOID:1933 Rubinstein-Taybi syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:28492532 10050737 CV192379 NM_004380.3(CREBBP):c.712G>C (p.Val238Leu) variant DOID:1933 Rubinstein-Taybi syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Broad thumb-hallux syndrome PMID:25741868|PMID:28492532 10050737 CV192379 NM_004380.3(CREBBP):c.712G>C (p.Val238Leu) variant DOID:630 genetic disease IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10050737 CV192379 NM_004380.3(CREBBP):c.712G>C (p.Val238Leu) variant DOID:9008974 Menke-Hennekam Syndrome 1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Menke-Hennekam syndrome 1 PMID:25741868|PMID:28492532 10050739 CV192382 NM_004393.6(DAG1):c.183T>C (p.Val61=) variant DOID:0110293 autosomal recessive limb-girdle muscular dystrophy type 2P IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 PMID:28492532 10050739 CV192382 NM_004393.6(DAG1):c.183T>C (p.Val61=) variant DOID:0111232 congenital muscular dystrophy-dystroglycanopathy type A9 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 PMID:28492532 10050741 CV192385 NM_004463.3(FGD1):c.373C>A (p.Pro125Thr) variant DOID:630 genetic disease IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10050743 CV192390 NM_004727.3(SLC24A1):c.803T>C (p.Val268Ala) variant DOID:0110868 congenital stationary night blindness 1D IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: CSNB, COMPLETE, AUTOSOMAL RECESSIVE PMID:28492532 10050743 CV192390 NM_004727.3(SLC24A1):c.803T>C (p.Val268Ala) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10050747 CV192395 NM_033360.4(KRAS):c.93A>G (p.Glu31=) variant DOID:0080690 RASopathy IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 10050748 CV192396 NM_033360.4(KRAS):c.76A>T (p.Asn26Tyr) variant DOID:0080690 RASopathy IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 10050751 CV192401 NM_001374353.1(GLI2):c.221A>G (p.His74Arg) variant DOID:0110873 holoprosencephaly 9 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 9 PMID:28492532 10050751 CV192401 NM_001374353.1(GLI2):c.221A>G (p.His74Arg) variant DOID:630 genetic disease IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10050752 CV192402 NM_001377295.2(GNAT2):c.147C>T (p.Ile49=) variant DOID:0110010 achromatopsia 4 IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Achromatopsia 4 PMID:25741868|PMID:28492532 10050755 CV192405 NM_001128227.3(GNE):c.79C>T (p.Arg27Ter) variant DOID:0080718 GNE myopathy IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: GNE myopathy PMID:24027297|PMID:28492532 10050755 CV192405 NM_001128227.3(GNE):c.79C>T (p.Arg27Ter) variant DOID:3659 sialuria IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Sialuria PMID:24027297|PMID:28492532 10050756 CV192406 NM_005506.4(SCARB2):c.246G>C (p.Arg82=) variant DOID:0111444 progressive myoclonus epilepsy 4 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Action myoclonus-renal failure syndrome PMID:25741868|PMID:26467025|PMID:28492532 10050756 CV192406 NM_005506.4(SCARB2):c.246G>C (p.Arg82=) variant DOID:630 genetic disease IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 10050756 CV192406 NM_005506.4(SCARB2):c.246G>C (p.Arg82=) variant DOID:891 progressive myoclonus epilepsy IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:25741868|PMID:26467025|PMID:28492532 10050756 CV192406 NM_005506.4(SCARB2):c.246G>C (p.Arg82=) variant DOID:9005154 Myoclonic Epilepsies IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Myoclonus epilepsy PMID:25741868|PMID:26467025|PMID:28492532 10050757 CV192407 NM_005562.3(LAMC2):c.196G>A (p.Glu66Lys) variant DOID:0060738 junctional epidermolysis bullosa non-Herlitz type IAGP D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Junctional epidermolysis bullosa, non-Herlitz type PMID:25741868|PMID:28492532 10050757 CV192407 NM_005562.3(LAMC2):c.196G>A (p.Glu66Lys) variant DOID:3209 junctional epidermolysis bullosa IAGP D RGD:8554872 20211109 ClinVar ClinVar Annotator: match by term: Junctional epidermolysis bullosa PMID:25741868|PMID:28492532 10050758 CV192408 NM_001374385.1(ATP8B1):c.150A>G (p.Glu50=) variant DOID:0070226 progressive familial intrahepatic cholestasis 1 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic 1 PMID:28492532 10050759 CV192409 NM_005677.4(COLQ):c.133C>T (p.Arg45Cys) variant DOID:0110667 congenital myasthenic syndrome 5 IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Endplate acetylcholinesterase deficiency PMID:28492532 10050759 CV192409 NM_005677.4(COLQ):c.133C>T (p.Arg45Cys) variant DOID:630 genetic disease IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10050760 CV192410 NM_005765.3(ATP6AP2):c.158C>T (p.Ser53Phe) variant DOID:0060806 syndromic X-linked intellectual disability Hedera type IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type PMID:28492532 10050761 CV192411 NM_005802.5(TOPORS):c.74C>G (p.Ser25Trp) variant DOID:0110391 retinitis pigmentosa 31 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 31 PMID:25741868|PMID:28492532 10050761 CV192411 NM_005802.5(TOPORS):c.74C>G (p.Ser25Trp) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant PMID:25741868|PMID:28492532 10050761 CV192411 NM_005802.5(TOPORS):c.74C>G (p.Ser25Trp) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532 10050762 CV192412 NM_005802.5(TOPORS):c.58C>T (p.Pro20Ser) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532 10050763 CV192413 NM_005802.5(TOPORS):c.67C>T (p.Pro23Ser) variant DOID:630 genetic disease IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10050766 CV192416 NM_005957.5(MTHFR):c.151C>T (p.Arg51Trp) variant DOID:0111907 thrombophilia due to thrombin defect IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: THROMBOPHILIA DUE TO FACTOR 2 DEFECT PMID:25741868|PMID:28492532|PMID:34214447|PMID:8940272 10050766 CV192416 NM_005957.5(MTHFR):c.151C>T (p.Arg51Trp) variant DOID:5419 schizophrenia IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Schizophrenia PMID:25741868|PMID:28492532|PMID:34214447|PMID:8940272 10050766 CV192416 NM_005957.5(MTHFR):c.151C>T (p.Arg51Trp) variant DOID:9001648 Methylenetetrahydrofolate Reductase Deficiency IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency PMID:25741868|PMID:28492532|PMID:34214447|PMID:8940272 10050766 CV192416 NM_005957.5(MTHFR):c.151C>T (p.Arg51Trp) variant DOID:9001989 Folate-Sensitive Neural Tube Defects IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Neural tube defects, folate-sensitive PMID:25741868|PMID:28492532|PMID:34214447|PMID:8940272 10050767 CV192417 NM_006005.3(WFS1):c.20C>T (p.Pro7Leu) variant DOID:0110241 cataract 41 IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cataract 41 PMID:25741868|PMID:28492532 10050767 CV192417 NM_006005.3(WFS1):c.20C>T (p.Pro7Leu) variant DOID:9351 diabetes mellitus IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:25741868|PMID:28492532 10050770 CV192422 NM_006269.2(RP1):c.515T>G (p.Leu172Arg) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:22334370|PMID:28041643|PMID:28492532|PMID:29068140|PMID:32565670 10050770 CV192422 NM_006269.2(RP1):c.515T>G (p.Leu172Arg) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:22334370|PMID:28041643|PMID:28492532|PMID:29068140|PMID:32565670 10050772 CV192424 NM_006279.5(ST3GAL3):c.118+10G>C variant DOID:0080414 developmental and epileptic encephalopathy 15 IAGP D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: ST3GAL3-related condition PMID:25741868|PMID:26467025|PMID:28492532 10050772 CV192424 NM_006279.5(ST3GAL3):c.118+10G>C variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:25741868|PMID:26467025|PMID:28492532 10050773 CV192425 NM_006343.3(MERTK):c.275C>T (p.Pro92Leu) variant DOID:630 genetic disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10050774 CV192428 NM_006516.4(SLC2A1):c.80G>A (p.Gly27Asp) variant DOID:0070561 glucose transporter type 1 deficiency syndrome 1 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Encephalopathy due to GLUT1 deficiency PMID:25741868 10050775 CV192429 NM_206965.2(FTCD):c.236A>C (p.Gln79Pro) variant DOID:0111679 glutamate formiminotransferase deficiency IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glutamate formiminotransferase deficiency PMID:25741868|PMID:30740726 10050775 CV192429 NM_206965.2(FTCD):c.236A>C (p.Gln79Pro) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:30740726 10050777 CV192431 NM_006915.3(RP2):c.260C>T (p.Thr87Ile) variant DOID:0110414 retinitis pigmentosa 3 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 3 PMID:20625056|PMID:23150612|PMID:25741868|PMID:28492532 10050777 CV192431 NM_006915.3(RP2):c.260C>T (p.Thr87Ile) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:20625056|PMID:23150612|PMID:25741868|PMID:28492532 10050778 CV192432 NM_006946.4(SPTBN2):c.157+5G>A variant DOID:0050882 spinocerebellar ataxia 5 IAGP D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 5 PMID:25741868|PMID:26467025|PMID:28492532 10050778 CV192432 NM_006946.4(SPTBN2):c.157+5G>A variant DOID:0080058 autosomal recessive spinocerebellar ataxia 14 IAGP D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 14 PMID:25741868|PMID:26467025|PMID:28492532 10050779 CV192433 NM_001077365.2(POMT1):c.42C>T (p.Asp14=) variant DOID:0050560 Walker-Warburg syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:24033266|PMID:28492532 10050779 CV192433 NM_001077365.2(POMT1):c.42C>T (p.Asp14=) variant DOID:0050588 muscular dystrophy-dystroglycanopathy type B1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1 PMID:24033266|PMID:28492532 10050779 CV192433 NM_001077365.2(POMT1):c.42C>T (p.Asp14=) variant DOID:0110297 autosomal recessive limb-girdle muscular dystrophy type 2K IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K PMID:24033266|PMID:28492532 10050782 CV192440 NM_012210.4(TRIM32):c.938C>T (p.Ala313Val) variant DOID:0110133 Bardet-Biedl syndrome 11 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 11 PMID:25741868|PMID:26467025|PMID:28492532 10050782 CV192440 NM_012210.4(TRIM32):c.938C>T (p.Ala313Val) variant DOID:0110282 autosomal recessive limb-girdle muscular dystrophy type 2H IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Sarcotubular myopathy PMID:25741868|PMID:26467025|PMID:28492532 10050782 CV192440 NM_012210.4(TRIM32):c.938C>T (p.Ala313Val) variant DOID:1935 Bardet-Biedl syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:25741868|PMID:26467025|PMID:28492532 10050783 CV192441 NM_012210.4(TRIM32):c.558G>C (p.Gln186His) variant DOID:0110133 Bardet-Biedl syndrome 11 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 11 PMID:25741868|PMID:26467025|PMID:27353947|PMID:28492532|PMID:31862442 10050783 CV192441 NM_012210.4(TRIM32):c.558G>C (p.Gln186His) variant DOID:0110282 autosomal recessive limb-girdle muscular dystrophy type 2H IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: TRIM32-related condition PMID:25741868|PMID:26467025|PMID:27353947|PMID:28492532|PMID:31862442 10050783 CV192441 NM_012210.4(TRIM32):c.558G>C (p.Gln186His) variant DOID:1935 Bardet-Biedl syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:25741868|PMID:26467025|PMID:27353947|PMID:28492532|PMID:31862442 10050784 CV192442 NM_012210.4(TRIM32):c.480G>A (p.Met160Ile) variant DOID:0110133 Bardet-Biedl syndrome 11 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 11 PMID:25741868|PMID:28492532 10050784 CV192442 NM_012210.4(TRIM32):c.480G>A (p.Met160Ile) variant DOID:0110282 autosomal recessive limb-girdle muscular dystrophy type 2H IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Sarcotubular myopathy PMID:25741868|PMID:28492532 10050784 CV192442 NM_012210.4(TRIM32):c.480G>A (p.Met160Ile) variant DOID:1935 Bardet-Biedl syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:25741868|PMID:28492532 10050784 CV192442 NM_012210.4(TRIM32):c.480G>A (p.Met160Ile) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532 10050785 CV192443 NM_012210.4(TRIM32):c.1954A>G (p.Thr652Ala) variant DOID:0110282 autosomal recessive limb-girdle muscular dystrophy type 2H IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Sarcotubular myopathy PMID:25741868|PMID:28492532 10050785 CV192443 NM_012210.4(TRIM32):c.1954A>G (p.Thr652Ala) variant DOID:1935 Bardet-Biedl syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:25741868|PMID:28492532 10050786 CV192444 NM_012210.4(TRIM32):c.633T>C (p.Ala211=) variant DOID:0110282 autosomal recessive limb-girdle muscular dystrophy type 2H IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: TRIM32-related condition PMID:28492532 10050786 CV192444 NM_012210.4(TRIM32):c.633T>C (p.Ala211=) variant DOID:1935 Bardet-Biedl syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 10050787 CV192445 NM_012210.4(TRIM32):c.1134C>T (p.Tyr378=) variant DOID:0110282 autosomal recessive limb-girdle muscular dystrophy type 2H IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: TRIM32-related condition PMID:28492532 10050787 CV192445 NM_012210.4(TRIM32):c.1134C>T (p.Tyr378=) variant DOID:1935 Bardet-Biedl syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 10050788 CV192446 NM_012210.4(TRIM32):c.1780A>G (p.Ser594Gly) variant DOID:0110133 Bardet-Biedl syndrome 11 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 11 PMID:25741868|PMID:28492532 10050788 CV192446 NM_012210.4(TRIM32):c.1780A>G (p.Ser594Gly) variant DOID:0110282 autosomal recessive limb-girdle muscular dystrophy type 2H IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2H PMID:25741868|PMID:28492532 10050788 CV192446 NM_012210.4(TRIM32):c.1780A>G (p.Ser594Gly) variant DOID:1935 Bardet-Biedl syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:25741868|PMID:28492532 10050789 CV192448 NM_012232.6(CAVIN1):c.*10G>A variant DOID:0111138 congenital generalized lipodystrophy type 4 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Congenital generalized lipodystrophy type 4 10050792 CV192451 NM_013372.7(GREM1):c.417G>A (p.Gln139=) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome 10050793 CV192453 NM_014141.6(CNTNAP2):c.136G>A (p.Val46Met) variant DOID:0090130 cortical dysplasia-focal epilepsy syndrome IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 1 PMID:25741868|PMID:28492532 10050793 CV192453 NM_014141.6(CNTNAP2):c.136G>A (p.Val46Met) variant DOID:12849 autistic disorder IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autism, susceptibility to, 15 PMID:25741868|PMID:28492532 10050793 CV192453 NM_014141.6(CNTNAP2):c.136G>A (p.Val46Met) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10050794 CV192454 NM_001330260.2(SCN8A):c.270G>T (p.Thr90=) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 10050797 CV192457 NM_014491.4(FOXP2):c.50A>T (p.Gln17Leu) variant DOID:0060135 apraxia IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL VERBAL DYSPRAXIA PMID:15877281|PMID:16984964|PMID:27336128|PMID:27933109 10050797 CV192457 NM_014491.4(FOXP2):c.50A>T (p.Gln17Leu) variant DOID:0111275 speech-language disorder-1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Speech-language disorder 1 PMID:15877281|PMID:16984964|PMID:27336128|PMID:27933109 10050797 CV192457 NM_014491.4(FOXP2):c.50A>T (p.Gln17Leu) variant DOID:630 genetic disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15877281|PMID:16984964|PMID:27336128|PMID:27933109 10050799 CV192461 NM_014780.5(CUL7):c.136C>T (p.Arg46Trp) variant DOID:9005349 Three M Syndrome 1 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Three M syndrome 1 PMID:28492532 10050802 CV192465 NM_001136193.2(FASTKD2):c.602G>A (p.Arg201His) variant DOID:0070424 combined oxidative phosphorylation deficiency 44 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 44 PMID:25741868 10050802 CV192465 NM_001136193.2(FASTKD2):c.602G>A (p.Arg201His) variant DOID:0070491 mitochondrial complex IV deficiency nuclear type 1 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Mitochondrial complex IV deficiency, nuclear type 1 PMID:25741868 10050803 CV192466 NM_015102.5(NPHP4):c.39T>G (p.Leu13=) variant DOID:12712 nephronophthisis IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:28492532 10050804 CV192469 NM_130837.3(OPA1):c.33-8T>C variant DOID:0080336 mitochondrial DNA depletion syndrome 14 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type) PMID:17306754|PMID:25741868|PMID:28492532|PMID:28494813|PMID:31500643 10050805 CV192471 NM_015629.4(PRPF31):c.138T>C (p.Asp46=) variant DOID:0110408 retinitis pigmentosa 11 IAGP D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: PRPF31-related condition PMID:19506198|PMID:28492532 10050805 CV192471 NM_015629.4(PRPF31):c.138T>C (p.Asp46=) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:19506198|PMID:28492532 10050805 CV192471 NM_015629.4(PRPF31):c.138T>C (p.Asp46=) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:19506198|PMID:28492532 10050806 CV192472 NM_016239.4(MYO15A):c.823G>C (p.Gly275Arg) variant DOID:0110488 autosomal recessive nonsyndromic deafness 3 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: MYO15A-related condition PMID:23804846|PMID:24033266|PMID:25741868|PMID:28492532 10050807 CV192473 NM_016239.4(MYO15A):c.2418C>T (p.Phe806=) variant DOID:0110488 autosomal recessive nonsyndromic deafness 3 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 3 PMID:24033266|PMID:28492532 10050808 CV192474 NM_016239.4(MYO15A):c.1454T>C (p.Val485Ala) variant DOID:0110488 autosomal recessive nonsyndromic deafness 3 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 3 PMID:24033266|PMID:25741868|PMID:26445815|PMID:27375115|PMID:28492532 10050809 CV192475 NM_016239.4(MYO15A):c.2225G>T (p.Arg742Leu) variant DOID:630 genetic disease IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10050810 CV192476 NM_016239.4(MYO15A):c.1783G>A (p.Ala595Thr) variant DOID:0110488 autosomal recessive nonsyndromic deafness 3 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 3 PMID:24033266|PMID:25741868|PMID:28492532 10050811 CV192477 NM_016729.3(FOLR1):c.157T>C (p.Leu53=) variant DOID:0050719 cerebral folate receptor alpha deficiency IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency PMID:28492532 10050811 CV192477 NM_016729.3(FOLR1):c.157T>C (p.Leu53=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10050812 CV192479 NM_017739.4(POMGNT1):c.87G>A (p.Leu29=) variant DOID:0110292 autosomal recessive limb-girdle muscular dystrophy type 2O IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 PMID:28492532 10050814 CV192483 NM_017780.4(CHD7):c.90G>A (p.Pro30=) variant DOID:0050834 CHARGE syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: CHARGE association PMID:28492532 10050814 CV192483 NM_017780.4(CHD7):c.90G>A (p.Pro30=) variant DOID:630 genetic disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10050814 CV192483 NM_017780.4(CHD7):c.90G>A (p.Pro30=) variant DOID:9004226 Hittner Hirsch Kreh Syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome PMID:28492532 10050815 CV192484 NM_017780.4(CHD7):c.240G>A (p.Met80Ile) variant DOID:0050834 CHARGE syndrome IAGP D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: CHARGE association PMID:28492532 10050815 CV192484 NM_017780.4(CHD7):c.240G>A (p.Met80Ile) variant DOID:630 genetic disease IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10050816 CV192485 NM_017780.4(CHD7):c.272G>A (p.Ser91Asn) variant DOID:0050834 CHARGE syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: CHD7-related condition 10050817 CV192486 NM_017780.4(CHD7):c.1046A>G (p.Asn349Ser) variant DOID:0050834 CHARGE syndrome IAGP D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: CHARGE association PMID:25741868|PMID:28492532 10050817 CV192486 NM_017780.4(CHD7):c.1046A>G (p.Asn349Ser) variant DOID:0090084 hypogonadotropic hypogonadism 5 with or without anosmia IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 5 with or without anosmia PMID:25741868|PMID:28492532 10050817 CV192486 NM_017780.4(CHD7):c.1046A>G (p.Asn349Ser) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10050818 CV192488 NM_017780.4(CHD7):c.360C>T (p.Gly120=) variant DOID:0050834 CHARGE syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Hall-Hittner syndrome PMID:28492532 10050818 CV192488 NM_017780.4(CHD7):c.360C>T (p.Gly120=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10050819 CV192489 NM_017780.4(CHD7):c.1170T>C (p.Tyr390=) variant DOID:0050834 CHARGE syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: CHARGE association PMID:28492532 10050819 CV192489 NM_017780.4(CHD7):c.1170T>C (p.Tyr390=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10050821 CV192493 NM_017780.4(CHD7):c.656G>A (p.Gly219Asp) variant DOID:0050834 CHARGE syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: CHD7-related condition 10050822 CV192494 NM_017780.4(CHD7):c.323C>A (p.Pro108His) variant DOID:0050834 CHARGE syndrome IAGP D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: CHARGE association PMID:24033266|PMID:25741868|PMID:28492532 10050823 CV192496 NM_017780.4(CHD7):c.1644G>A (p.Pro548=) variant DOID:0050834 CHARGE syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: CHARGE association PMID:28492532 10050823 CV192496 NM_017780.4(CHD7):c.1644G>A (p.Pro548=) variant DOID:630 genetic disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10050824 CV192497 NM_152564.5(VPS13B):c.56A>G (p.Lys19Arg) variant DOID:0111590 Cohen syndrome IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Pepper syndrome PMID:25741868|PMID:26467025|PMID:28492532 10050824 CV192497 NM_152564.5(VPS13B):c.56A>G (p.Lys19Arg) variant DOID:630 genetic disease IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 10050824 CV192497 NM_152564.5(VPS13B):c.56A>G (p.Lys19Arg) variant DOID:9001162 Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness PMID:25741868|PMID:26467025|PMID:28492532 10050825 CV192499 NM_018139.3(DNAAF2):c.1953A>G (p.Pro651=) variant DOID:0110612 primary ciliary dyskinesia 10 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 10 PMID:24033266|PMID:25741868|PMID:28492532 10050825 CV192499 NM_018139.3(DNAAF2):c.1953A>G (p.Pro651=) variant DOID:9562 primary ciliary dyskinesia IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:24033266|PMID:25741868|PMID:28492532 10050827 CV192502 NM_018668.5(VPS33B):c.133C>A (p.Leu45Ile) variant DOID:0111353 arthrogryposis, renal dysfunction, and cholestasis 1 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1 PMID:25741868|PMID:28492532 10050828 CV192503 NM_018668.5(VPS33B):c.136A>T (p.Met46Leu) variant DOID:0111353 arthrogryposis, renal dysfunction, and cholestasis 1 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 1 PMID:25741868|PMID:28492532 10050829 CV192504 NM_018699.4(PRDM5):c.106G>A (p.Gly36Arg) variant DOID:0080729 brittle cornea syndrome 2 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brittle cornea syndrome 2 PMID:25741868|PMID:28492532|PMID:33739556 10050829 CV192504 NM_018699.4(PRDM5):c.106G>A (p.Gly36Arg) variant DOID:13359 Ehlers-Danlos syndrome IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:25741868|PMID:28492532|PMID:33739556 10050830 CV192505 NM_018941.4(CLN8):c.385C>T (p.Arg129Trp) variant DOID:0110723 neuronal ceroid lipofuscinosis 8 IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 8 PMID:28492532 10050830 CV192505 NM_018941.4(CLN8):c.385C>T (p.Arg129Trp) variant DOID:14503 neuronal ceroid lipofuscinosis IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 10050830 CV192505 NM_018941.4(CLN8):c.385C>T (p.Arg129Trp) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10050831 CV192506 NM_018941.4(CLN8):c.200C>T (p.Ala67Val) variant DOID:0110721 neuronal ceroid lipofuscinosis 1 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 1 PMID:28492532|PMID:29503925|PMID:34532411 10050831 CV192506 NM_018941.4(CLN8):c.200C>T (p.Ala67Val) variant DOID:0110723 neuronal ceroid lipofuscinosis 8 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 8 PMID:28492532|PMID:29503925|PMID:34532411 10050831 CV192506 NM_018941.4(CLN8):c.200C>T (p.Ala67Val) variant DOID:0110724 neuronal ceroid lipofuscinosis 8 northern epilepsy variant IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 8 northern epilepsy variant PMID:28492532|PMID:29503925|PMID:34532411 10050831 CV192506 NM_018941.4(CLN8):c.200C>T (p.Ala67Val) variant DOID:14503 neuronal ceroid lipofuscinosis IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532|PMID:29503925|PMID:34532411 10050831 CV192506 NM_018941.4(CLN8):c.200C>T (p.Ala67Val) variant DOID:630 genetic disease IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:29503925|PMID:34532411 10050832 CV192507 NM_018941.4(CLN8):c.94T>G (p.Phe32Val) variant DOID:0110724 neuronal ceroid lipofuscinosis 8 northern epilepsy variant IAGP D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 8 northern epilepsy variant PMID:25741868|PMID:28492532 10050832 CV192507 NM_018941.4(CLN8):c.94T>G (p.Phe32Val) variant DOID:14503 neuronal ceroid lipofuscinosis IAGP D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:25741868|PMID:28492532 10050832 CV192507 NM_018941.4(CLN8):c.94T>G (p.Phe32Val) variant DOID:630 genetic disease IAGP D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10050836 CV192515 NM_020320.5(RARS2):c.78A>C (p.Thr26=) variant DOID:0060275 pontocerebellar hypoplasia type 6 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 6 PMID:28492532 10050837 CV192517 NM_020366.4(RPGRIP1):c.95T>A (p.Met32Lys) variant DOID:0110329 Leber congenital amaurosis 6 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 6 PMID:25741868|PMID:28492532 10050837 CV192517 NM_020366.4(RPGRIP1):c.95T>A (p.Met32Lys) variant DOID:0111016 cone-rod dystrophy 13 IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 13 PMID:25741868|PMID:28492532 10050837 CV192517 NM_020366.4(RPGRIP1):c.95T>A (p.Met32Lys) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532 10050838 CV192519 NM_020436.5(SALL4):c.2376T>C (p.Asn792=) variant DOID:0060747 Duane-radial ray syndrome IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Duane-radial ray syndrome PMID:28492532 10050839 CV192524 NM_020451.3(SELENON):c.253A>G (p.Met85Val) variant DOID:0110633 rigid spine muscular dystrophy 1 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy PMID:25741868|PMID:28492532 10050839 CV192524 NM_020451.3(SELENON):c.253A>G (p.Met85Val) variant DOID:630 genetic disease IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10050840 CV192525 NM_001199107.2(TBC1D24):c.169C>T (p.Arg57Cys) variant DOID:0080468 developmental and epileptic encephalopathy 1 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 PMID:24033266|PMID:26467025|PMID:28492532|PMID:29358611 10050840 CV192525 NM_001199107.2(TBC1D24):c.169C>T (p.Arg57Cys) variant DOID:0110586 autosomal dominant nonsyndromic deafness 65 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 65 PMID:24033266|PMID:26467025|PMID:28492532|PMID:29358611 10050840 CV192525 NM_001199107.2(TBC1D24):c.169C>T (p.Arg57Cys) variant DOID:308 early myoclonic encephalopathy IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile PMID:24033266|PMID:26467025|PMID:28492532|PMID:29358611 10050840 CV192525 NM_001199107.2(TBC1D24):c.169C>T (p.Arg57Cys) variant DOID:3329 benign epilepsy with centrotemporal spikes IAGP D RGD:8554872 20180710 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:24033266|PMID:26467025|PMID:28492532|PMID:29358611 10050840 CV192525 NM_001199107.2(TBC1D24):c.169C>T (p.Arg57Cys) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:26467025|PMID:28492532|PMID:29358611 10050840 CV192525 NM_001199107.2(TBC1D24):c.169C>T (p.Arg57Cys) variant DOID:9007063 Myoclonic Epilepsy, Familial Infantile IAGP D RGD:8554872 20180710 ClinVar ClinVar Annotator: match by term: Myoclonic epilepsy, familial infantile PMID:24033266|PMID:26467025|PMID:28492532|PMID:29358611 10050842 CV192527 NM_020822.3(KCNT1):c.254+10G>C variant DOID:0080439 developmental and epileptic encephalopathy 14 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:28492532 10050843 CV192530 NM_138638.5(CFL2):c.21G>A (p.Val7=) variant DOID:0110934 nemaline myopathy 7 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 7 PMID:28492532 10050844 CV192531 NM_021939.4(FKBP10):c.246-5C>G variant DOID:0110351 osteogenesis imperfecta type 11 IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 11 PMID:25741868|PMID:28492532 10050844 CV192531 NM_021939.4(FKBP10):c.246-5C>G variant DOID:12347 osteogenesis imperfecta IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:25741868|PMID:28492532 10050845 CV192532 NM_022367.4(SEMA4A):c.84G>A (p.Thr28=) variant DOID:0111017 cone-rod dystrophy 10 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 10 PMID:25741868|PMID:28492532 10050845 CV192532 NM_022367.4(SEMA4A):c.84G>A (p.Thr28=) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive PMID:25741868|PMID:28492532 10050846 CV192533 NM_022464.5(SIL1):c.1A>G (p.Met1Val) variant DOID:0080195 Marinesco-Sjogren syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Marinesco-Sjögren syndrome PMID:28492532 10050847 CV192534 NM_022464.5(SIL1):c.103C>G (p.Leu35Val) variant DOID:0080195 Marinesco-Sjogren syndrome IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Marinesco-Sjögren syndrome PMID:25741868|PMID:28492532 10050847 CV192534 NM_022464.5(SIL1):c.103C>G (p.Leu35Val) variant DOID:630 genetic disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10050848 CV192536 NM_022787.4(NMNAT1):c.37G>A (p.Ala13Thr) variant DOID:0110005 Leber congenital amaurosis 9 IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 9 PMID:22842227|PMID:22842229|PMID:22842230|PMID:25741868|PMID:26018082|PMID:28492532|PMID:32865313 10050848 CV192536 NM_022787.4(NMNAT1):c.37G>A (p.Ala13Thr) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:22842227|PMID:22842229|PMID:22842230|PMID:25741868|PMID:26018082|PMID:28492532|PMID:32865313 10050850 CV192540 NM_024685.4(BBS10):c.1838A>G (p.Tyr613Cys) variant DOID:0110132 Bardet-Biedl syndrome 10 IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 10 PMID:16582908|PMID:20498079|PMID:25741868|PMID:28492532 10050850 CV192540 NM_024685.4(BBS10):c.1838A>G (p.Tyr613Cys) variant DOID:1935 Bardet-Biedl syndrome IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:16582908|PMID:20498079|PMID:25741868|PMID:28492532 10050851 CV192541 NM_024757.5(EHMT1):c.70G>A (p.Glu24Lys) variant DOID:0060352 Kleefstra syndrome 1 IAGP D RGD:8554872 20190326 ClinVar ClinVar Annotator: match by term: Chromosome 9q deletion syndrome PMID:25741868|PMID:28492532 10050851 CV192541 NM_024757.5(EHMT1):c.70G>A (p.Glu24Lys) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10050852 CV192542 NM_024757.5(EHMT1):c.35G>C (p.Arg12Thr) variant DOID:0060352 Kleefstra syndrome 1 IAGP D RGD:8554872 20190326 ClinVar ClinVar Annotator: match by term: Chromosome 9q deletion syndrome PMID:25741868|PMID:28492532 10050853 CV192544 NM_030777.4(SLC2A10):c.515C>T (p.Thr172Ile) variant DOID:0050645 arterial tortuosity syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Arterial tortuosity syndrome PMID:24033266|PMID:25326637|PMID:25741868|PMID:25944730|PMID:28492532 10050853 CV192544 NM_030777.4(SLC2A10):c.515C>T (p.Thr172Ile) variant DOID:0060797 hypomyelinating leukodystrophy 8 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Endosteal sclerosis-cerebellar hypoplasia syndrome PMID:24033266|PMID:25326637|PMID:25741868|PMID:25944730|PMID:28492532 10050853 CV192544 NM_030777.4(SLC2A10):c.515C>T (p.Thr172Ile) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:24033266|PMID:25326637|PMID:25741868|PMID:25944730|PMID:28492532 10050854 CV192546 NM_030973.4(MED25):c.135-6T>G variant DOID:0050539 Charcot-Marie-Tooth disease type 2 IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 PMID:25741868|PMID:28492532 10050854 CV192546 NM_030973.4(MED25):c.135-6T>G variant DOID:10595 Charcot-Marie-Tooth disease IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:25741868|PMID:28492532 10050854 CV192546 NM_030973.4(MED25):c.135-6T>G variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10050855 CV192547 NM_031427.4(DNAL1):c.4-15T>C variant DOID:0110613 primary ciliary dyskinesia 16 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 PMID:28492532 10050856 CV192550 NM_032575.3(GLIS2):c.239A>T (p.Asp80Val) variant DOID:0111112 nephronophthisis 1 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:25741868|PMID:28492532 10050856 CV192550 NM_032575.3(GLIS2):c.239A>T (p.Asp80Val) variant DOID:0111116 nephronophthisis 7 IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Nephronophthisis 7 PMID:25741868|PMID:28492532 10050856 CV192550 NM_032575.3(GLIS2):c.239A>T (p.Asp80Val) variant DOID:12712 nephronophthisis IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:25741868|PMID:28492532 10050857 CV192551 NM_032578.4(MYPN):c.729T>G (p.Ser243Arg) variant DOID:0110445 dilated cardiomyopathy 1KK IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1KK PMID:25741868|PMID:28492532 10050857 CV192551 NM_032578.4(MYPN):c.729T>G (p.Ser243Arg) variant DOID:0110933 nemaline myopathy 11 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 11, autosomal recessive PMID:25741868|PMID:28492532 10050859 CV192555 NM_182961.4(SYNE1):c.23C>T (p.Ser8Phe) variant DOID:0070249 autosomal dominant Emery-Dreifuss muscular dystrophy 4 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant PMID:25741868|PMID:28492532 10050859 CV192555 NM_182961.4(SYNE1):c.23C>T (p.Ser8Phe) variant DOID:0111618 autosomal recessive spinocerebellar ataxia 8 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type PMID:25741868|PMID:28492532 10050860 CV192556 NM_033337.3(CAV3):c.312G>A (p.Val104=) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10050861 CV192557 NM_052859.4(RFT1):c.136G>A (p.Val46Ile) variant DOID:0080566 congenital disorder of glycosylation In IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1N PMID:28492532 10050862 CV192558 NM_130839.5(UBE3A):c.63-14_63-7del variant DOID:1932 Angelman syndrome IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Angelman syndrome 10050865 CV192564 NM_139058.3(ARX):c.336A>G (p.Ala112=) variant DOID:0080468 developmental and epileptic encephalopathy 1 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 PMID:28492532 10050867 CV192568 NM_145239.3(PRRT2):c.224C>T (p.Pro75Leu) variant DOID:9009225 Episodic Kinesigenic Dyskinesia IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia PMID:28492532 10050869 CV192572 NM_001128225.3(SLC39A13):c.222T>A (p.Gly74=) variant DOID:0080739 Ehlers-Danlos syndrome spondylodysplastic type 3 IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Spondylocheirodysplasia, Ehlers-Danlos syndrome-like PMID:28492532 10050870 CV192573 NM_152618.3(BBS12):c.979T>A (p.Ser327Thr) variant DOID:0110134 Bardet-Biedl syndrome 12 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: BBS12-related condition 10050870 CV192573 NM_152618.3(BBS12):c.979T>A (p.Ser327Thr) variant DOID:630 genetic disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10050871 CV192574 NM_152618.3(BBS12):c.978T>A (p.Thr326=) variant DOID:0110134 Bardet-Biedl syndrome 12 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 12 PMID:28492532 10050871 CV192574 NM_152618.3(BBS12):c.978T>A (p.Thr326=) variant DOID:1935 Bardet-Biedl syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 10050872 CV192575 NM_152618.3(BBS12):c.2021G>A (p.Arg674His) variant DOID:0110134 Bardet-Biedl syndrome 12 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 12 PMID:25741868|PMID:28492532 10050872 CV192575 NM_152618.3(BBS12):c.2021G>A (p.Arg674His) variant DOID:1935 Bardet-Biedl syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:25741868|PMID:28492532 10050873 CV192578 NM_153033.5(KCTD7):c.190A>G (p.Thr64Ala) variant DOID:0111446 progressive myoclonus epilepsy 3 IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: CEROID LIPOFUSCINOSIS, NEURONAL, 14 PMID:25741868|PMID:26467025|PMID:26795593|PMID:28492532|PMID:29056246|PMID:30295347|PMID:30825425|PMID:32412666|PMID:34395220 10050873 CV192578 NM_153033.5(KCTD7):c.190A>G (p.Thr64Ala) variant DOID:14503 neuronal ceroid lipofuscinosis IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:25741868|PMID:26467025|PMID:26795593|PMID:28492532|PMID:29056246|PMID:30295347|PMID:30825425|PMID:32412666|PMID:34395220 10050873 CV192578 NM_153033.5(KCTD7):c.190A>G (p.Thr64Ala) variant DOID:630 genetic disease IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:26795593|PMID:28492532|PMID:29056246|PMID:30295347|PMID:30825425|PMID:32412666|PMID:34395220 10050877 CV192587 NM_171998.4(RAB39B):c.543A>G (p.Thr181=) variant DOID:0112059 non-syndromic X-linked intellectual disability 72 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 72 PMID:19377476|PMID:25741868|PMID:26739247|PMID:28492532 10050877 CV192587 NM_171998.4(RAB39B):c.543A>G (p.Thr181=) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19377476|PMID:25741868|PMID:26739247|PMID:28492532 10050878 CV192588 NM_173477.5(USH1G):c.715A>C (p.Lys239Gln) variant DOID:0110834 Usher syndrome type 1G IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: USH1G-related disorder PMID:24033266|PMID:28492532 10050882 CV192593 NM_181458.4(PAX3):c.129T>C (p.Gly43=) variant DOID:0110948 Waardenburg syndrome type 1 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome type 1 PMID:24033266|PMID:25741868|PMID:28492532 10050882 CV192593 NM_181458.4(PAX3):c.129T>C (p.Gly43=) variant DOID:0110949 Waardenburg syndrome type 3 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome type 3 PMID:24033266|PMID:25741868|PMID:28492532 10050882 CV192593 NM_181458.4(PAX3):c.129T>C (p.Gly43=) variant DOID:0111336 craniofacial-deafness-hand syndrome IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Craniofacial-deafness-hand syndrome PMID:24033266|PMID:25741868|PMID:28492532 10050882 CV192593 NM_181458.4(PAX3):c.129T>C (p.Gly43=) variant DOID:9258 Waardenburg syndrome IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Waardenburg syndrome PMID:24033266|PMID:25741868|PMID:28492532 10050884 CV192597 NM_198506.5(LRIT3):c.379G>T (p.Asp127Tyr) variant DOID:0110864 congenital stationary night blindness 1F IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: LRIT3-related condition PMID:25741868|PMID:28492532|PMID:32483926 10050884 CV192597 NM_198506.5(LRIT3):c.379G>T (p.Asp127Tyr) variant DOID:5723 optic atrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:25741868|PMID:28492532|PMID:32483926 10050885 CV192601 NM_198525.3(KIF7):c.160C>T (p.His54Tyr) variant DOID:9250 acrocallosal syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Acrocallosal syndrome PMID:28492532|PMID:34489640 10050886 CV192603 NM_201253.3(CRB1):c.600A>G (p.Thr200=) variant DOID:0110079 Leber congenital amaurosis 8 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 8 PMID:28492532 10050886 CV192603 NM_201253.3(CRB1):c.600A>G (p.Thr200=) variant DOID:0110358 retinitis pigmentosa 12 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 12 PMID:28492532 10050886 CV192603 NM_201253.3(CRB1):c.600A>G (p.Thr200=) variant DOID:0111541 pigmented paravenous chorioretinal atrophy IAGP D RGD:8554872 20250729 ClinVar ClinVar Annotator: match by term: Pigmented paravenous retinochoroidal atrophy PMID:28492532 10050886 CV192603 NM_201253.3(CRB1):c.600A>G (p.Thr200=) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive PMID:28492532 10050886 CV192603 NM_201253.3(CRB1):c.600A>G (p.Thr200=) variant DOID:14791 Leber congenital amaurosis IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:28492532 10050887 CV192604 NM_201253.3(CRB1):c.351C>G (p.Asn117Lys) variant DOID:0110079 Leber congenital amaurosis 8 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 8 PMID:25741868|PMID:28492532 10050887 CV192604 NM_201253.3(CRB1):c.351C>G (p.Asn117Lys) variant DOID:0110358 retinitis pigmentosa 12 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 12 PMID:25741868|PMID:28492532 10050887 CV192604 NM_201253.3(CRB1):c.351C>G (p.Asn117Lys) variant DOID:0111541 pigmented paravenous chorioretinal atrophy IAGP D RGD:8554872 20250729 ClinVar ClinVar Annotator: match by term: Pigmented paravenous retinochoroidal atrophy PMID:25741868|PMID:28492532 10050887 CV192604 NM_201253.3(CRB1):c.351C>G (p.Asn117Lys) variant DOID:14791 Leber congenital amaurosis IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Leber's amaurosis PMID:25741868|PMID:28492532 10050889 CV192607 NM_207122.2(EXT2):c.284G>A (p.Arg95His) variant DOID:9003693 Multiple Exostoses Type II IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Exostoses, multiple, type 2 PMID:25741868|PMID:28492532 10050891 CV192609 NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln) variant DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:10077518|PMID:17999356|PMID:18414213|PMID:21378393|PMID:21932095|PMID:25741868|PMID:26453363|PMID:27209629|PMID:27884173|PMID:28492532|PMID:28755359|PMID:30194637|PMID:34426522|PMID:34485012|PMID:35281663|PMID:35626289 10050892 CV192610 NM_000052.7(ATP7A):c.3970G>A (p.Val1324Ile) variant DOID:1838 Menkes disease IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Menkes kinky-hair syndrome PMID:28492532 10050893 CV192611 NM_000070.3(CAPN3):c.2134C>T (p.Leu712Phe) variant DOID:0110275 autosomal recessive limb-girdle muscular dystrophy type 2A IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2A PMID:17562833|PMID:25741868|PMID:26467025|PMID:26886200|PMID:28492532|PMID:30919934 10050893 CV192611 NM_000070.3(CAPN3):c.2134C>T (p.Leu712Phe) variant DOID:9006843 Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 4 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, autosomal dominant 4 PMID:17562833|PMID:25741868|PMID:26467025|PMID:26886200|PMID:28492532|PMID:30919934 10050895 CV192614 NM_000089.4(COL1A2):c.1076A>G (p.Asn359Ser) variant DOID:0110334 osteogenesis imperfecta type 1 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type I PMID:26402641|PMID:28492532|PMID:29947050 10050895 CV192614 NM_000089.4(COL1A2):c.1076A>G (p.Asn359Ser) variant DOID:12347 osteogenesis imperfecta IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Lobstein disease PMID:26402641|PMID:28492532|PMID:29947050 10050895 CV192614 NM_000089.4(COL1A2):c.1076A>G (p.Asn359Ser) variant DOID:14720 Ehlers-Danlos syndrome classic type 1 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 PMID:26402641|PMID:28492532|PMID:29947050 10050897 CV192618 NM_000283.4(PDE6B):c.2344G>A (p.Val782Met) variant DOID:0110863 congenital stationary night blindness autosomal dominant 2 IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness, autosomal dominant 2 PMID:28492532 10050897 CV192618 NM_000283.4(PDE6B):c.2344G>A (p.Val782Met) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532 10050898 CV192621 NM_001278116.2(L1CAM):c.2657G>A (p.Arg886Gln) variant DOID:0060246 MASA syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MASA syndrome PMID:25741868|PMID:28492532 10050898 CV192621 NM_001278116.2(L1CAM):c.2657G>A (p.Arg886Gln) variant DOID:607 paraplegia IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:25741868|PMID:28492532 10050899 CV192622 NM_000426.4(LAMA2):c.2831A>G (p.Gln944Arg) variant DOID:0110636 congenital merosin-deficient muscular dystrophy 1A IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Laminin alpha 2-related dystrophy PMID:25741868|PMID:28492532 10050899 CV192622 NM_000426.4(LAMA2):c.2831A>G (p.Gln944Arg) variant DOID:630 genetic disease IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10050899 CV192622 NM_000426.4(LAMA2):c.2831A>G (p.Gln944Arg) variant DOID:9007352 Congenital Muscular Dystrophy due to Partial LAMA2 Deficiency IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy due to partial LAMA2 deficiency PMID:25741868|PMID:28492532 10050900 CV192625 NM_000492.4(CFTR):c.3285A>T (p.Thr1095=) variant DOID:1485 cystic fibrosis IAGP D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Cystic fibrosis PMID:10601093|PMID:10746558|PMID:10980579|PMID:11354633|PMID:11788091|PMID:15536480|PMID:16128988|PMID:16251901|PMID:17890437|PMID:18687795|PMID:20021716|PMID:23378595|PMID:23503723|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:7515303|PMID:7525450 10050900 CV192625 NM_000492.4(CFTR):c.3285A>T (p.Thr1095=) variant DOID:9008999 Hereditary Pancreatitis IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary pancreatitis PMID:10601093|PMID:10746558|PMID:10980579|PMID:11354633|PMID:11788091|PMID:15536480|PMID:16128988|PMID:16251901|PMID:17890437|PMID:18687795|PMID:20021716|PMID:23378595|PMID:23503723|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:7515303|PMID:7525450 10050901 CV192627 NM_000702.4(ATP1A2):c.2751G>A (p.Thr917=) variant DOID:0060178 familial hemiplegic migraine IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Familial hemiplegic migraine PMID:26467025|PMID:28492532 10050901 CV192627 NM_000702.4(ATP1A2):c.2751G>A (p.Thr917=) variant DOID:0111182 familial hemiplegic migraine 2 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Familial hemiplegic migraine type 2 PMID:26467025|PMID:28492532 10050901 CV192627 NM_000702.4(ATP1A2):c.2751G>A (p.Thr917=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532 10050901 CV192627 NM_000702.4(ATP1A2):c.2751G>A (p.Thr917=) variant DOID:9009197 Alternating Hemiplegia of Childhood 1 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Alternating hemiplegia of childhood 1 PMID:26467025|PMID:28492532 10050902 CV192628 NM_000719.7(CACNA1C):c.2766G>A (p.Pro922=) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10050904 CV192631 NM_001127222.2(CACNA1A):c.3436G>A (p.Val1146Ile) variant DOID:0050990 episodic ataxia type 2 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:25741868|PMID:26467025|PMID:28492532 10050905 CV192632 NM_001127222.2(CACNA1A):c.3409C>G (p.Pro1137Ala) variant DOID:0050990 episodic ataxia type 2 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:26467025|PMID:28492532 10050905 CV192632 NM_001127222.2(CACNA1A):c.3409C>G (p.Pro1137Ala) variant DOID:0080454 developmental and epileptic encephalopathy 42 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 42 PMID:26467025|PMID:28492532 10050905 CV192632 NM_001127222.2(CACNA1A):c.3409C>G (p.Pro1137Ala) variant DOID:630 genetic disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532 10050906 CV192633 NM_001127222.2(CACNA1A):c.3309C>T (p.Pro1103=) variant DOID:0050990 episodic ataxia type 2 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:26467025|PMID:28492532 10050906 CV192633 NM_001127222.2(CACNA1A):c.3309C>T (p.Pro1103=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532 10050907 CV192635 NM_001429.4(EP300):c.3591-6C>T variant DOID:1933 Rubinstein-Taybi syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 PMID:28492532 10050908 CV192637 NM_001458.5(FLNC):c.3054C>T (p.Gly1018=) variant DOID:0080096 myofibrillar myopathy 5 IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy, filamin C-related PMID:28492532 10050908 CV192637 NM_001458.5(FLNC):c.3054C>T (p.Gly1018=) variant DOID:0110327 hypertrophic cardiomyopathy 26 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 26 PMID:28492532 10050908 CV192637 NM_001458.5(FLNC):c.3054C>T (p.Gly1018=) variant DOID:0111190 distal myopathy 4 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Distal myopathy with posterior leg and anterior hand involvement PMID:28492532 10050908 CV192637 NM_001458.5(FLNC):c.3054C>T (p.Gly1018=) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant PMID:28492532 10050909 CV192638 NM_001848.3(COL6A1):c.1350G>A (p.Pro450=) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:28492532 10050910 CV192639 NM_001852.4(COL9A2):c.1041C>T (p.Gly347=) variant DOID:0070298 multiple epiphyseal dysplasia 2 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, 2 PMID:28492532 10050910 CV192639 NM_001852.4(COL9A2):c.1041C>T (p.Gly347=) variant DOID:0070305 multiple epiphyseal dysplasia due to collagen 9 anomaly IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: COL9A2-related disorder PMID:28492532 10050912 CV192642 NM_002206.3(ITGA7):c.2642T>A (p.Val881Asp) variant DOID:0110639 congenital muscular dystrophy due to integrin alpha-7 deficiency IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, congenital, due to integrin alpha-7 deficiency PMID:28492532 10050913 CV192644 NM_001161352.2(KCNMA1):c.2484+9G>C variant DOID:0070442 paroxysmal nonkinesigenic dyskinesia 3 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy PMID:28492532 10050914 CV192647 NM_001252024.2(TRPM1):c.2653A>G (p.Ile885Val) variant DOID:0110867 congenital stationary night blindness 1C IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness, type 1C PMID:28492532 10050915 CV192648 NM_002693.3(POLG):c.3176A>G (p.Asn1059Ser) variant DOID:0080119 mitochondrial DNA depletion syndrome 1 IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1 PMID:22863191|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32613234|PMID:35861376|PMID:36703223 10050915 CV192648 NM_002693.3(POLG):c.3176A>G (p.Asn1059Ser) variant DOID:0080122 Alpers-Huttenlocher syndrome IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy PMID:22863191|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32613234|PMID:35861376|PMID:36703223 10050915 CV192648 NM_002693.3(POLG):c.3176A>G (p.Asn1059Ser) variant DOID:0080123 mitochondrial DNA depletion syndrome 4B IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4b PMID:22863191|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32613234|PMID:35861376|PMID:36703223 10050915 CV192648 NM_002693.3(POLG):c.3176A>G (p.Asn1059Ser) variant DOID:0080127 mitochondrial DNA depletion syndrome 8A IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION PMID:22863191|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32613234|PMID:35861376|PMID:36703223 10050915 CV192648 NM_002693.3(POLG):c.3176A>G (p.Asn1059Ser) variant DOID:0111276 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE PMID:22863191|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32613234|PMID:35861376|PMID:36703223 10050915 CV192648 NM_002693.3(POLG):c.3176A>G (p.Asn1059Ser) variant DOID:0111521 autosomal dominant progressive external ophthalmoplegia 1 IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 PMID:22863191|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32613234|PMID:35861376|PMID:36703223 10050915 CV192648 NM_002693.3(POLG):c.3176A>G (p.Asn1059Ser) variant DOID:0111522 autosomal recessive progressive external ophthalmoplegia 1 IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1 PMID:22863191|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32613234|PMID:35861376|PMID:36703223 10050915 CV192648 NM_002693.3(POLG):c.3176A>G (p.Asn1059Ser) variant DOID:9001263 Mitochondrial DNA Depletion Syndrome, MNGIE Type IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION PMID:22863191|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32613234|PMID:35861376|PMID:36703223 10050915 CV192648 NM_002693.3(POLG):c.3176A>G (p.Asn1059Ser) variant DOID:9008631 progressive myoclonus epilepsy 5 IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5 PMID:22863191|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32613234|PMID:35861376|PMID:36703223 10050916 CV192649 NM_001365536.1(SCN9A):c.3684T>C (p.Tyr1228=) variant DOID:0050548 hereditary sensory neuropathy IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE PMID:28492532 10050916 CV192649 NM_001365536.1(SCN9A):c.3684T>C (p.Tyr1228=) variant DOID:0070155 hereditary sensory and autonomic neuropathy type 2A IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIA PMID:28492532 10050916 CV192649 NM_001365536.1(SCN9A):c.3684T>C (p.Tyr1228=) variant DOID:0111295 generalized epilepsy with febrile seizures plus 7 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: GEFS+, TYPE 7 PMID:28492532 10050916 CV192649 NM_001365536.1(SCN9A):c.3684T>C (p.Tyr1228=) variant DOID:0111537 paroxysmal extreme pain disorder IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: RECTAL PAIN, FAMILIAL PMID:28492532 10050916 CV192649 NM_001365536.1(SCN9A):c.3684T>C (p.Tyr1228=) variant DOID:9002272 Small Fiber Neuropathy IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Small fiber neuropathy PMID:28492532 10050916 CV192649 NM_001365536.1(SCN9A):c.3684T>C (p.Tyr1228=) variant DOID:9008324 Congenital Indifference to Pain, Autosomal Recessive IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Indifference to pain, congenital, autosomal recessive PMID:28492532 10050916 CV192649 NM_001365536.1(SCN9A):c.3684T>C (p.Tyr1228=) variant DOID:9008482 Congenital Pain Insensitivity IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Insensitivity to pain, channelopathy-associated PMID:28492532 10050916 CV192649 NM_001365536.1(SCN9A):c.3684T>C (p.Tyr1228=) variant DOID:9240 erythromelalgia IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Inherited Erythromelalgia PMID:28492532 10050917 CV192650 NM_001130987.2(DYSF):c.1822C>T (p.Arg608Cys) variant DOID:0110276 autosomal recessive limb-girdle muscular dystrophy type 2B IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 3 PMID:25741868|PMID:28492532 10050917 CV192650 NM_001130987.2(DYSF):c.1822C>T (p.Arg608Cys) variant DOID:630 genetic disease IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10050917 CV192650 NM_001130987.2(DYSF):c.1822C>T (p.Arg608Cys) variant DOID:9004518 Dysferlinopathy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dysferlinopathy PMID:25741868|PMID:28492532 10050918 CV192651 NM_001130987.2(DYSF):c.1906G>A (p.Gly636Arg) variant DOID:0070199 Miyoshi muscular dystrophy 1 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Miyoshi muscular dystrophy 1 PMID:15469449|PMID:17828519|PMID:18853459|PMID:25741868|PMID:26088049|PMID:26404900|PMID:28492532|PMID:33927379|PMID:35028538 10050918 CV192651 NM_001130987.2(DYSF):c.1906G>A (p.Gly636Arg) variant DOID:0110274 autosomal recessive limb-girdle muscular dystrophy IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy PMID:15469449|PMID:17828519|PMID:18853459|PMID:25741868|PMID:26088049|PMID:26404900|PMID:28492532|PMID:33927379|PMID:35028538 10050918 CV192651 NM_001130987.2(DYSF):c.1906G>A (p.Gly636Arg) variant DOID:0110276 autosomal recessive limb-girdle muscular dystrophy type 2B IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2B PMID:15469449|PMID:17828519|PMID:18853459|PMID:25741868|PMID:26088049|PMID:26404900|PMID:28492532|PMID:33927379|PMID:35028538 10050918 CV192651 NM_001130987.2(DYSF):c.1906G>A (p.Gly636Arg) variant DOID:0111187 distal myopathy with anterior tibial onset IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Distal myopathy with anterior tibial onset PMID:15469449|PMID:17828519|PMID:18853459|PMID:25741868|PMID:26088049|PMID:26404900|PMID:28492532|PMID:33927379|PMID:35028538 10050919 CV192654 NM_004006.3(DMD):c.2539A>G (p.Thr847Ala) variant DOID:11723 Duchenne muscular dystrophy IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:24033266|PMID:25741868|PMID:28492532 10050920 CV192655 NM_004006.3(DMD):c.2575A>T (p.Thr859Ser) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:25741868|PMID:28492532 10050920 CV192655 NM_004006.3(DMD):c.2575A>T (p.Thr859Ser) variant DOID:11723 Duchenne muscular dystrophy IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:25741868|PMID:28492532 10050920 CV192655 NM_004006.3(DMD):c.2575A>T (p.Thr859Ser) variant DOID:9883 Becker muscular dystrophy IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, BECKER TYPE PMID:25741868|PMID:28492532 10050922 CV192660 NM_005609.4(PYGM):c.2382C>T (p.Asn794=) variant DOID:2746 glycogen storage disease V IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:28492532 10050923 CV192661 NM_006031.6(PCNT):c.3885T>C (p.Phe1295=) variant DOID:0060609 microcephalic osteodysplastic primordial dwarfism type II IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: PCNT-related condition PMID:28492532 10050924 CV192664 NM_001077365.2(POMT1):c.2097C>T (p.Tyr699=) variant DOID:0110297 autosomal recessive limb-girdle muscular dystrophy type 2K IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K PMID:25741868|PMID:28492532 10050926 CV192670 NM_014141.6(CNTNAP2):c.3355C>T (p.Arg1119Cys) variant DOID:0090130 cortical dysplasia-focal epilepsy syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Cortical dysplasia-focal epilepsy syndrome PMID:25741868|PMID:28492532 10050926 CV192670 NM_014141.6(CNTNAP2):c.3355C>T (p.Arg1119Cys) variant DOID:12849 autistic disorder IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Autism, susceptibility to, 15 PMID:25741868|PMID:28492532 10050926 CV192670 NM_014141.6(CNTNAP2):c.3355C>T (p.Arg1119Cys) variant DOID:630 genetic disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10050927 CV192671 NM_014714.4(IFT140):c.2551G>A (p.Val851Met) variant DOID:0061111 retinitis pigmentosa 80 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 80 PMID:25741868|PMID:28492532 10050927 CV192671 NM_014714.4(IFT140):c.2551G>A (p.Val851Met) variant DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:25741868|PMID:28492532 10050930 CV192674 NM_001365951.3(KIF1B):c.2043-10_2043-9del variant DOID:10595 Charcot-Marie-Tooth disease IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:25741868 10050931 CV192675 NM_015192.4(PLCB1):c.2088C>T (p.Tyr696=) variant DOID:0080459 developmental and epileptic encephalopathy 12 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12 PMID:28492532 10050931 CV192675 NM_015192.4(PLCB1):c.2088C>T (p.Tyr696=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10050932 CV192676 NM_130837.3(OPA1):c.2088G>A (p.Ala696=) variant DOID:0111441 optic atrophy 1 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Dominant hereditary optic atrophy PMID:12842213|PMID:16513463|PMID:23401657|PMID:28492532 10050933 CV192677 NM_017534.6(MYH2):c.2295G>A (p.Gly765=) variant DOID:0080719 congenital myopathy 6 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia PMID:28492532 10050934 CV192680 NM_001134831.2(AHI1):c.2808A>G (p.Thr936=) variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 10050935 CV192681 NM_152564.5(VPS13B):c.2852G>T (p.Gly951Val) variant DOID:0111590 Cohen syndrome IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 10050936 CV192682 NM_017950.4(CCDC40):c.3424T>C (p.Ser1142Pro) variant DOID:0110623 primary ciliary dyskinesia 15 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 15 PMID:28492532 10050936 CV192682 NM_017950.4(CCDC40):c.3424T>C (p.Ser1142Pro) variant DOID:9562 primary ciliary dyskinesia IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 10050937 CV192684 NM_017950.4(CCDC40):c.3349G>A (p.Glu1117Lys) variant DOID:0110623 primary ciliary dyskinesia 15 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 15 PMID:28492532 10050937 CV192684 NM_017950.4(CCDC40):c.3349G>A (p.Glu1117Lys) variant DOID:9562 primary ciliary dyskinesia IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 10050938 CV192685 NM_017950.4(CCDC40):c.3408C>T (p.Leu1136=) variant DOID:0110623 primary ciliary dyskinesia 15 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 15 PMID:28492532 10050938 CV192685 NM_017950.4(CCDC40):c.3408C>T (p.Leu1136=) variant DOID:9562 primary ciliary dyskinesia IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 10050939 CV192687 NM_020631.6(PLEKHG5):c.2867G>A (p.Arg956Lys) variant DOID:0111213 autosomal recessive distal hereditary motor neuronopathy 4 IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 4 PMID:25741868|PMID:28492532 10050940 CV192688 NM_020631.6(PLEKHG5):c.2720T>C (p.Leu907Pro) variant DOID:0111213 autosomal recessive distal hereditary motor neuronopathy 4 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 4 PMID:25741868|PMID:28492532 10050941 CV192689 NM_020631.6(PLEKHG5):c.2564C>T (p.Ser855Leu) variant DOID:0111213 autosomal recessive distal hereditary motor neuronopathy 4 IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 4 PMID:28492532 10050941 CV192689 NM_020631.6(PLEKHG5):c.2564C>T (p.Ser855Leu) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10050942 CV192692 NM_024753.5(TTC21B):c.2587C>T (p.Arg863Trp) variant DOID:0050592 asphyxiating thoracic dystrophy IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:21258341|PMID:22773737|PMID:24876116|PMID:25741868|PMID:28492532 10050942 CV192692 NM_024753.5(TTC21B):c.2587C>T (p.Arg863Trp) variant DOID:0110088 asphyxiating thoracic dystrophy 4 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 4 PMID:21258341|PMID:22773737|PMID:24876116|PMID:25741868|PMID:28492532 10050942 CV192692 NM_024753.5(TTC21B):c.2587C>T (p.Arg863Trp) variant DOID:0111119 nephronophthisis 12 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephronophthisis 12 PMID:21258341|PMID:22773737|PMID:24876116|PMID:25741868|PMID:28492532 10050943 CV192693 NM_024757.5(EHMT1):c.3015C>T (p.Pro1005=) variant DOID:0060352 Kleefstra syndrome 1 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:28492532 10050944 CV192695 NM_031220.4(PITPNM3):c.2700C>T (p.Arg900=) variant DOID:0111010 cone-rod dystrophy 5 IAGP D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: PITPNM3-related condition PMID:28492532 10050945 CV192696 NM_032119.4(ADGRV1):c.4168A>G (p.Asn1390Asp) variant DOID:0110839 Usher syndrome type 2C IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Usher syndrome, type 2C PMID:28492532 10050945 CV192696 NM_032119.4(ADGRV1):c.4168A>G (p.Asn1390Asp) variant DOID:630 genetic disease IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10050946 CV192697 NM_001384140.1(PCDH15):c.2619A>G (p.Glu873=) variant DOID:0110832 Usher syndrome type 1F IAGP D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1F PMID:28492532 10050947 CV192698 NM_052989.3(IFT122):c.2245A>T (p.Met749Leu) variant DOID:0080803 cranioectodermal dysplasia 1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cranioectodermal dysplasia 1 PMID:25741868 10050948 CV192699 NM_138694.4(PKHD1):c.1849T>C (p.Tyr617His) variant DOID:0080212 polycystic kidney disease 4 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE, INFANTILE, TYPE I PMID:28492532 10050948 CV192699 NM_138694.4(PKHD1):c.1849T>C (p.Tyr617His) variant DOID:0110861 autosomal recessive polycystic kidney disease IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease PMID:28492532 10050948 CV192699 NM_138694.4(PKHD1):c.1849T>C (p.Tyr617His) variant DOID:898 autosomal dominant polycystic kidney disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease PMID:28492532 10050950 CV192707 NM_001267550.2(TTN):c.47513G>A (p.Arg15838Gln) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10050950 CV192707 NM_001267550.2(TTN):c.47513G>A (p.Arg15838Gln) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Myopathy, early-onset, with fatal cardiomyopathy PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10050950 CV192707 NM_001267550.2(TTN):c.47513G>A (p.Arg15838Gln) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10050950 CV192707 NM_001267550.2(TTN):c.47513G>A (p.Arg15838Gln) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10050952 CV192709 NM_001267550.2(TTN):c.47942C>T (p.Thr15981Met) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Salih Myopathy PMID:25741868 10050952 CV192709 NM_001267550.2(TTN):c.47942C>T (p.Thr15981Met) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10 PMID:25741868 10050952 CV192709 NM_001267550.2(TTN):c.47942C>T (p.Thr15981Met) variant DOID:0110315 hypertrophic cardiomyopathy 9 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 9 PMID:25741868 10050952 CV192709 NM_001267550.2(TTN):c.47942C>T (p.Thr15981Met) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:25741868 10050952 CV192709 NM_001267550.2(TTN):c.47942C>T (p.Thr15981Met) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Udd Distal Myopathy PMID:25741868 10050952 CV192709 NM_001267550.2(TTN):c.47942C>T (p.Thr15981Met) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant PMID:25741868 10050955 CV192712 NM_001267550.2(TTN):c.48462G>A (p.Thr16154=) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early-onset myopathy with fatal cardiomyopathy PMID:25741868|PMID:28492532 10050955 CV192712 NM_001267550.2(TTN):c.48462G>A (p.Thr16154=) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:25741868|PMID:28492532 10050955 CV192712 NM_001267550.2(TTN):c.48462G>A (p.Thr16154=) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:25741868|PMID:28492532 10050955 CV192712 NM_001267550.2(TTN):c.48462G>A (p.Thr16154=) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:25741868|PMID:28492532 10050955 CV192712 NM_001267550.2(TTN):c.48462G>A (p.Thr16154=) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:25741868|PMID:28492532 10050956 CV192713 NM_000070.3(CAPN3):c.2235C>T (p.Tyr745=) variant DOID:0110275 autosomal recessive limb-girdle muscular dystrophy type 2A IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2A PMID:25741868|PMID:26467025|PMID:28492532 10050956 CV192713 NM_000070.3(CAPN3):c.2235C>T (p.Tyr745=) variant DOID:630 genetic disease IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 10050957 CV192715 NM_000070.3(CAPN3):c.2236G>A (p.Glu746Lys) variant DOID:0110275 autosomal recessive limb-girdle muscular dystrophy type 2A IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2A PMID:28492532 10050958 CV192716 NM_000124.4(ERCC6):c.4066G>A (p.Gly1356Ser) variant DOID:0112158 De Sanctis-Cacchione syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: DE SANCTIS-CACCHIONE SYNDROME PMID:25741868|PMID:28492532 10050959 CV192717 NM_000260.4(MYO7A):c.2572C>T (p.Arg858Cys) variant DOID:630 genetic disease IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10050960 CV192718 NM_000275.3(OCA2):c.2207C>T (p.Ser736Leu) variant DOID:0070096 oculocutaneous albinism type II IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Tyrosinase-positive oculocutaneous albinism PMID:15173252|PMID:18463683|PMID:24518832|PMID:24845642|PMID:25741868|PMID:28492532|PMID:28976636|PMID:29345414|PMID:9259203 10050960 CV192718 NM_000275.3(OCA2):c.2207C>T (p.Ser736Leu) variant DOID:9000752 Skin/Hair/Eye Pigmentation, Variation In, 1 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES PMID:15173252|PMID:18463683|PMID:24518832|PMID:24845642|PMID:25741868|PMID:28492532|PMID:28976636|PMID:29345414|PMID:9259203 10050962 CV192724 NM_000368.5(TSC1):c.2654G>A (p.Arg885Gln) variant DOID:0080324 tuberous sclerosis 1 IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:25741868|PMID:28492532 10050962 CV192724 NM_000368.5(TSC1):c.2654G>A (p.Arg885Gln) variant DOID:13515 tuberous sclerosis IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis syndrome PMID:25741868|PMID:28492532 10050962 CV192724 NM_000368.5(TSC1):c.2654G>A (p.Arg885Gln) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532 10050964 CV192727 NM_000426.4(LAMA2):c.2993G>A (p.Arg998His) variant DOID:0110636 congenital merosin-deficient muscular dystrophy 1A IAGP D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Laminin alpha 2-related dystrophy PMID:25741868|PMID:28492532 10050964 CV192727 NM_000426.4(LAMA2):c.2993G>A (p.Arg998His) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10050965 CV192728 NM_000553.6(WRN):c.2521G>A (p.Ala841Thr) variant DOID:5688 Werner syndrome IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Werner syndrome PMID:25741868|PMID:28492532 10050965 CV192728 NM_000553.6(WRN):c.2521G>A (p.Ala841Thr) variant DOID:630 genetic disease IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10050966 CV192729 NM_000875.5(IGF1R):c.4009C>T (p.Arg1337Cys) variant DOID:9000145 IGF1R-RELATED DISORDER IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: IGF-I RESISTANCE PMID:23147026|PMID:25040157|PMID:28492532|PMID:32939436 10050968 CV192731 NM_000875.5(IGF1R):c.4058G>A (p.Arg1353His) variant DOID:9000145 IGF1R-RELATED DISORDER IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: IGF-I RESISTANCE PMID:23431249|PMID:25741868|PMID:28492532|PMID:29168297|PMID:29789409 10050969 CV192733 NM_001378615.1(CC2D2A):c.2542A>C (p.Met848Leu) variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 10050971 CV192738 NM_001165963.4(SCN1A):c.4284+7G>A variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 10050972 CV192739 NM_001165963.4(SCN1A):c.4010T>G (p.Val1337Gly) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 10050973 CV192740 NM_001277115.2(DNAH11):c.4001T>C (p.Ile1334Thr) variant DOID:0110605 primary ciliary dyskinesia 7 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 7 PMID:25741868|PMID:28492532 10050973 CV192740 NM_001277115.2(DNAH11):c.4001T>C (p.Ile1334Thr) variant DOID:9562 primary ciliary dyskinesia IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:25741868|PMID:28492532 10050974 CV192742 NM_001110556.2(FLNA):c.3064C>G (p.Pro1022Ala) variant DOID:0050454 periventricular nodular heterotopia IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Periventricular nodular heterotopia 1 PMID:25741868|PMID:28492532 10050974 CV192742 NM_001110556.2(FLNA):c.3064C>G (p.Pro1022Ala) variant DOID:0111784 otopalatodigital syndrome type 2 IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II PMID:25741868|PMID:28492532 10050974 CV192742 NM_001110556.2(FLNA):c.3064C>G (p.Pro1022Ala) variant DOID:0111785 frontometaphyseal dysplasia IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Frontometaphyseal dysplasia PMID:25741868|PMID:28492532 10050974 CV192742 NM_001110556.2(FLNA):c.3064C>G (p.Pro1022Ala) variant DOID:0111788 Melnick-Needles syndrome IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles PMID:25741868|PMID:28492532 10050974 CV192742 NM_001110556.2(FLNA):c.3064C>G (p.Pro1022Ala) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10050974 CV192742 NM_001110556.2(FLNA):c.3064C>G (p.Pro1022Ala) variant DOID:9005082 Periventricular Nodular Heterotopia 4 IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant PMID:25741868|PMID:28492532 10050975 CV192744 NM_001458.5(FLNC):c.3243G>A (p.Ala1081=) variant DOID:0080096 myofibrillar myopathy 5 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy, filamin C-related PMID:28492532 10050975 CV192744 NM_001458.5(FLNC):c.3243G>A (p.Ala1081=) variant DOID:0110327 hypertrophic cardiomyopathy 26 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic, 26 PMID:28492532 10050975 CV192744 NM_001458.5(FLNC):c.3243G>A (p.Ala1081=) variant DOID:0111190 distal myopathy 4 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: WILLIAMS DISTAL MYOPATHY PMID:28492532 10050975 CV192744 NM_001458.5(FLNC):c.3243G>A (p.Ala1081=) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant PMID:28492532 10050977 CV192748 NM_001161352.2(KCNMA1):c.2565C>T (p.Ile855=) variant DOID:0070442 paroxysmal nonkinesigenic dyskinesia 3 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy PMID:25741868|PMID:28492532 10050978 CV192749 NM_001252024.2(TRPM1):c.2701-10T>A variant DOID:0110867 congenital stationary night blindness 1C IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness, type 1C PMID:28492532 10050980 CV192752 NM_002693.3(POLG):c.3425G>A (p.Arg1142Gln) variant DOID:0080122 Alpers-Huttenlocher syndrome IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy PMID:25741868|PMID:28492532 10050981 CV192753 NM_001365536.1(SCN9A):c.3832C>G (p.Leu1278Val) variant DOID:0050548 hereditary sensory neuropathy IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE PMID:19763161|PMID:23895530|PMID:24776970|PMID:24848745|PMID:25250524|PMID:25741868|PMID:26284228|PMID:26467025|PMID:28235406|PMID:28440294|PMID:28492532|PMID:29176367|PMID:29358611|PMID:30554136|PMID:31847883|PMID:32011655|PMID:37175987 10050981 CV192753 NM_001365536.1(SCN9A):c.3832C>G (p.Leu1278Val) variant DOID:0070155 hereditary sensory and autonomic neuropathy type 2A IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A PMID:19763161|PMID:23895530|PMID:24776970|PMID:24848745|PMID:25250524|PMID:25741868|PMID:26284228|PMID:26467025|PMID:28235406|PMID:28440294|PMID:28492532|PMID:29176367|PMID:29358611|PMID:30554136|PMID:31847883|PMID:32011655|PMID:37175987 10050981 CV192753 NM_001365536.1(SCN9A):c.3832C>G (p.Leu1278Val) variant DOID:0111295 generalized epilepsy with febrile seizures plus 7 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: GEFS+, TYPE 7 PMID:19763161|PMID:23895530|PMID:24776970|PMID:24848745|PMID:25250524|PMID:25741868|PMID:26284228|PMID:26467025|PMID:28235406|PMID:28440294|PMID:28492532|PMID:29176367|PMID:29358611|PMID:30554136|PMID:31847883|PMID:32011655|PMID:37175987 10050981 CV192753 NM_001365536.1(SCN9A):c.3832C>G (p.Leu1278Val) variant DOID:0111537 paroxysmal extreme pain disorder IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Paroxysmal extreme pain disorder PMID:19763161|PMID:23895530|PMID:24776970|PMID:24848745|PMID:25250524|PMID:25741868|PMID:26284228|PMID:26467025|PMID:28235406|PMID:28440294|PMID:28492532|PMID:29176367|PMID:29358611|PMID:30554136|PMID:31847883|PMID:32011655|PMID:37175987 10050981 CV192753 NM_001365536.1(SCN9A):c.3832C>G (p.Leu1278Val) variant DOID:3329 benign epilepsy with centrotemporal spikes IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:19763161|PMID:23895530|PMID:24776970|PMID:24848745|PMID:25250524|PMID:25741868|PMID:26284228|PMID:26467025|PMID:28235406|PMID:28440294|PMID:28492532|PMID:29176367|PMID:29358611|PMID:30554136|PMID:31847883|PMID:32011655|PMID:37175987 10050981 CV192753 NM_001365536.1(SCN9A):c.3832C>G (p.Leu1278Val) variant DOID:630 genetic disease IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19763161|PMID:23895530|PMID:24776970|PMID:24848745|PMID:25250524|PMID:25741868|PMID:26284228|PMID:26467025|PMID:28235406|PMID:28440294|PMID:28492532|PMID:29176367|PMID:29358611|PMID:30554136|PMID:31847883|PMID:32011655|PMID:37175987 10050981 CV192753 NM_001365536.1(SCN9A):c.3832C>G (p.Leu1278Val) variant DOID:9008324 Congenital Indifference to Pain, Autosomal Recessive IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Indifference to pain, congenital, autosomal recessive PMID:19763161|PMID:23895530|PMID:24776970|PMID:24848745|PMID:25250524|PMID:25741868|PMID:26284228|PMID:26467025|PMID:28235406|PMID:28440294|PMID:28492532|PMID:29176367|PMID:29358611|PMID:30554136|PMID:31847883|PMID:32011655|PMID:37175987 10050981 CV192753 NM_001365536.1(SCN9A):c.3832C>G (p.Leu1278Val) variant DOID:9008482 Congenital Pain Insensitivity IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Insensitivity to pain, channelopathy-associated PMID:19763161|PMID:23895530|PMID:24776970|PMID:24848745|PMID:25250524|PMID:25741868|PMID:26284228|PMID:26467025|PMID:28235406|PMID:28440294|PMID:28492532|PMID:29176367|PMID:29358611|PMID:30554136|PMID:31847883|PMID:32011655|PMID:37175987 10050981 CV192753 NM_001365536.1(SCN9A):c.3832C>G (p.Leu1278Val) variant DOID:9240 erythromelalgia IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Primary erythromelalgia PMID:19763161|PMID:23895530|PMID:24776970|PMID:24848745|PMID:25250524|PMID:25741868|PMID:26284228|PMID:26467025|PMID:28235406|PMID:28440294|PMID:28492532|PMID:29176367|PMID:29358611|PMID:30554136|PMID:31847883|PMID:32011655|PMID:37175987 10050983 CV192756 NM_001130987.2(DYSF):c.1985-4C>G variant DOID:0110276 autosomal recessive limb-girdle muscular dystrophy type 2B IAGP D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 3 PMID:28492532 10050983 CV192756 NM_001130987.2(DYSF):c.1985-4C>G variant DOID:9004518 Dysferlinopathy IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dysferlinopathy PMID:28492532 10050984 CV192759 NM_001130987.2(DYSF):c.2020A>G (p.Lys674Glu) variant DOID:0070198 Miyoshi muscular dystrophy IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, distal, late onset, autosomal recessive PMID:25741868|PMID:26467025|PMID:27365461|PMID:28492532 10050984 CV192759 NM_001130987.2(DYSF):c.2020A>G (p.Lys674Glu) variant DOID:0070199 Miyoshi muscular dystrophy 1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Miyoshi muscular dystrophy 1 PMID:25741868|PMID:26467025|PMID:27365461|PMID:28492532 10050984 CV192759 NM_001130987.2(DYSF):c.2020A>G (p.Lys674Glu) variant DOID:0110274 autosomal recessive limb-girdle muscular dystrophy IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive PMID:25741868|PMID:26467025|PMID:27365461|PMID:28492532 10050984 CV192759 NM_001130987.2(DYSF):c.2020A>G (p.Lys674Glu) variant DOID:0110276 autosomal recessive limb-girdle muscular dystrophy type 2B IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 3 PMID:25741868|PMID:26467025|PMID:27365461|PMID:28492532 10050984 CV192759 NM_001130987.2(DYSF):c.2020A>G (p.Lys674Glu) variant DOID:0111187 distal myopathy with anterior tibial onset IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Distal myopathy with anterior tibial onset PMID:25741868|PMID:26467025|PMID:27365461|PMID:28492532 10050985 CV192763 NM_005045.4(RELN):c.2754A>G (p.Gln918=) variant DOID:0060902 Norman-Roberts syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Norman-Roberts syndrome PMID:28492532 10050986 CV192765 NM_001374385.1(ATP8B1):c.2358G>A (p.Val786=) variant DOID:1852 intrahepatic cholestasis IAGP D RGD:8554872 20250821 ClinVar ClinVar Annotator: match by term: ATP8B1-related disorder PMID:28492532 10050987 CV192766 NM_006031.6(PCNT):c.4109G>A (p.Arg1370Gln) variant DOID:0060609 microcephalic osteodysplastic primordial dwarfism type II IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism type II PMID:25741868|PMID:28492532 10050989 CV192769 NM_015102.5(NPHP4):c.2965G>A (p.Glu989Lys) variant DOID:0111112 nephronophthisis 1 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:25741868|PMID:28492532 10050989 CV192769 NM_015102.5(NPHP4):c.2965G>A (p.Glu989Lys) variant DOID:0111115 nephronophthisis 4 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Nephronophthisis 4 PMID:25741868|PMID:28492532 10050989 CV192769 NM_015102.5(NPHP4):c.2965G>A (p.Glu989Lys) variant DOID:12712 nephronophthisis IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:25741868|PMID:28492532 10050989 CV192769 NM_015102.5(NPHP4):c.2965G>A (p.Glu989Lys) variant DOID:9000511 Senior-Loken Syndrome 4 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 4 PMID:25741868|PMID:28492532 10050990 CV192770 NM_015102.5(NPHP4):c.3028G>A (p.Asp1010Asn) variant DOID:0111112 nephronophthisis 1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:28492532 10050990 CV192770 NM_015102.5(NPHP4):c.3028G>A (p.Asp1010Asn) variant DOID:0111115 nephronophthisis 4 IAGP D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: NPHP4-related condition PMID:28492532 10050990 CV192770 NM_015102.5(NPHP4):c.3028G>A (p.Asp1010Asn) variant DOID:12712 nephronophthisis IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:28492532 10050991 CV192771 NM_015102.5(NPHP4):c.2914A>G (p.Ser972Gly) variant DOID:0111115 nephronophthisis 4 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Nephronophthisis 4 PMID:25741868|PMID:28492532 10050991 CV192771 NM_015102.5(NPHP4):c.2914A>G (p.Ser972Gly) variant DOID:12712 nephronophthisis IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:25741868|PMID:28492532 10050991 CV192771 NM_015102.5(NPHP4):c.2914A>G (p.Ser972Gly) variant DOID:9000511 Senior-Loken Syndrome 4 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 4 PMID:25741868|PMID:28492532 10050992 CV192773 NM_015102.5(NPHP4):c.2818-20C>T variant DOID:12712 nephronophthisis IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:28492532 10050993 CV192774 NM_015102.5(NPHP4):c.3036C>T (p.Pro1012=) variant DOID:0111115 nephronophthisis 4 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Nephronophthisis 4 PMID:25741868|PMID:28492532 10050993 CV192774 NM_015102.5(NPHP4):c.3036C>T (p.Pro1012=) variant DOID:12712 nephronophthisis IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:25741868|PMID:28492532 10050993 CV192774 NM_015102.5(NPHP4):c.3036C>T (p.Pro1012=) variant DOID:9000511 Senior-Loken Syndrome 4 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 4 PMID:25741868|PMID:28492532 10050994 CV192775 NM_015102.5(NPHP4):c.2892C>T (p.Ala964=) variant DOID:0111112 nephronophthisis 1 IAGP D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:25741868|PMID:28492532 10050994 CV192775 NM_015102.5(NPHP4):c.2892C>T (p.Ala964=) variant DOID:12712 nephronophthisis IAGP D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:25741868|PMID:28492532 10050994 CV192775 NM_015102.5(NPHP4):c.2892C>T (p.Ala964=) variant DOID:557 kidney disease IAGP D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney disease PMID:25741868|PMID:28492532 10050995 CV192777 NM_018136.5(ASPM):c.9101G>A (p.Cys3034Tyr) variant DOID:0070280 primary autosomal recessive microcephaly 5 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Microcephaly 5, primary, autosomal recessive PMID:25741868 10050996 CV192778 NM_020366.4(RPGRIP1):c.3377C>T (p.Ala1126Val) variant DOID:0110329 Leber congenital amaurosis 6 IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 6 PMID:25741868|PMID:28492532 10050996 CV192778 NM_020366.4(RPGRIP1):c.3377C>T (p.Ala1126Val) variant DOID:0111016 cone-rod dystrophy 13 IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 13 PMID:25741868|PMID:28492532 10050996 CV192778 NM_020366.4(RPGRIP1):c.3377C>T (p.Ala1126Val) variant DOID:630 genetic disease IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10050997 CV192781 NM_024757.5(EHMT1):c.3081C>T (p.Asn1027=) variant DOID:0060352 Kleefstra syndrome 1 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:28492532 10050998 CV192782 NM_025132.4(WDR19):c.2364-15_2364-14del variant DOID:0050577 cranioectodermal dysplasia IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Cranioectodermal dysplasia PMID:28492532 10050998 CV192782 NM_025132.4(WDR19):c.2364-15_2364-14del variant DOID:0050592 asphyxiating thoracic dystrophy IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:28492532 10050998 CV192782 NM_025132.4(WDR19):c.2364-15_2364-14del variant DOID:0110089 asphyxiating thoracic dystrophy 5 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 5 PMID:28492532 10050999 CV192783 NM_025132.4(WDR19):c.2364-3del variant DOID:0110089 asphyxiating thoracic dystrophy 5 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY PMID:28492532 10050999 CV192783 NM_025132.4(WDR19):c.2364-3del variant DOID:9004444 Senior-Loken Syndrome 8 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 8 PMID:28492532 10051001 CV192785 NM_032119.4(ADGRV1):c.4666G>A (p.Glu1556Lys) variant DOID:0110839 Usher syndrome type 2C IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2C PMID:24033266|PMID:26467025|PMID:28492532 10051004 CV192790 NM_001379081.2(FREM1):c.3631C>T (p.Pro1211Ser) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10051005 CV192792 NM_153704.6(TMEM67):c.2132A>C (p.Asp711Ala) variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:17160906|PMID:26477546|PMID:28492532 10051006 CV192793 NM_198428.3(BBS9):c.2363C>T (p.Ser788Phe) variant DOID:0110131 Bardet-Biedl syndrome 9 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 9 PMID:25741868|PMID:28492532 10051006 CV192793 NM_198428.3(BBS9):c.2363C>T (p.Ser788Phe) variant DOID:1935 Bardet-Biedl syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:25741868|PMID:28492532 10051007 CV192794 NM_198428.3(BBS9):c.2403A>G (p.Ile801Met) variant DOID:0110131 Bardet-Biedl syndrome 9 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 9 PMID:25741868|PMID:28492532 10051007 CV192794 NM_198428.3(BBS9):c.2403A>G (p.Ile801Met) variant DOID:1935 Bardet-Biedl syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:25741868|PMID:28492532 10051007 CV192794 NM_198428.3(BBS9):c.2403A>G (p.Ile801Met) variant DOID:630 genetic disease IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10051008 CV192795 NM_213599.3(ANO5):c.2503_2505del (p.Phe835del) variant DOID:0110274 autosomal recessive limb-girdle muscular dystrophy IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy PMID:28492532 10051008 CV192795 NM_213599.3(ANO5):c.2503_2505del (p.Phe835del) variant DOID:0111533 gnathodiaphyseal dysplasia IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Gnathodiaphyseal dysplasia PMID:28492532 10051009 CV192797 NM_001267550.2(TTN):c.49172G>A (p.Arg16391Gln) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early-onset myopathy with fatal cardiomyopathy PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10051009 CV192797 NM_001267550.2(TTN):c.49172G>A (p.Arg16391Gln) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10051009 CV192797 NM_001267550.2(TTN):c.49172G>A (p.Arg16391Gln) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10051009 CV192797 NM_001267550.2(TTN):c.49172G>A (p.Arg16391Gln) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10051009 CV192797 NM_001267550.2(TTN):c.49172G>A (p.Arg16391Gln) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10051011 CV192799 NM_001267550.2(TTN):c.49949A>G (p.Tyr16650Cys) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:25741868 10051012 CV192800 NM_001267550.2(TTN):c.50077G>A (p.Val16693Ile) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:23396983|PMID:26467025|PMID:28492532 10051012 CV192800 NM_001267550.2(TTN):c.50077G>A (p.Val16693Ile) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23396983|PMID:26467025|PMID:28492532 10051016 CV192806 NM_000275.3(OCA2):c.2293G>A (p.Ala765Thr) variant DOID:0070096 oculocutaneous albinism type II IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Tyrosinase-positive oculocutaneous albinism PMID:21541274|PMID:25741868|PMID:28492532 10051017 CV192807 NM_000321.3(RB1):c.2212-15A>G variant DOID:768 retinoblastoma IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Retinoblastoma PMID:28492532 10051018 CV192808 NM_000352.6(ABCC8):c.2610C>T (p.Ala870=) variant DOID:0050524 maturity-onset diabetes of the young IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Mason type diabetes PMID:16613899|PMID:16885549|PMID:18025408|PMID:18981553|PMID:21989597|PMID:27538677|PMID:28492532|PMID:32027066|PMID:32792356 10051018 CV192808 NM_000352.6(ABCC8):c.2610C>T (p.Ala870=) variant DOID:0060334 transient neonatal diabetes mellitus IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Transient neonatal diabetes mellitus PMID:16613899|PMID:16885549|PMID:18025408|PMID:18981553|PMID:21989597|PMID:27538677|PMID:28492532|PMID:32027066|PMID:32792356 10051018 CV192808 NM_000352.6(ABCC8):c.2610C>T (p.Ala870=) variant DOID:0060639 permanent neonatal diabetes mellitus IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus PMID:16613899|PMID:16885549|PMID:18025408|PMID:18981553|PMID:21989597|PMID:27538677|PMID:28492532|PMID:32027066|PMID:32792356 10051018 CV192808 NM_000352.6(ABCC8):c.2610C>T (p.Ala870=) variant DOID:0061174 transient neonatal diabetes mellitus 2 IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Diabetes mellitus, transient neonatal, 2 PMID:16613899|PMID:16885549|PMID:18025408|PMID:18981553|PMID:21989597|PMID:27538677|PMID:28492532|PMID:32027066|PMID:32792356 10051018 CV192808 NM_000352.6(ABCC8):c.2610C>T (p.Ala870=) variant DOID:0070219 familial hyperinsulinemic hypoglycemia 1 IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 PMID:16613899|PMID:16885549|PMID:18025408|PMID:18981553|PMID:21989597|PMID:27538677|PMID:28492532|PMID:32027066|PMID:32792356 10051018 CV192808 NM_000352.6(ABCC8):c.2610C>T (p.Ala870=) variant DOID:13317 hyperinsulinemic hypoglycemia IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Persistent hyperinsulinemic hypoglycemia of infancy PMID:16613899|PMID:16885549|PMID:18025408|PMID:18981553|PMID:21989597|PMID:27538677|PMID:28492532|PMID:32027066|PMID:32792356 10051018 CV192808 NM_000352.6(ABCC8):c.2610C>T (p.Ala870=) variant DOID:2018 hyperinsulinism IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary hyperinsulinism PMID:16613899|PMID:16885549|PMID:18025408|PMID:18981553|PMID:21989597|PMID:27538677|PMID:28492532|PMID:32027066|PMID:32792356 10051018 CV192808 NM_000352.6(ABCC8):c.2610C>T (p.Ala870=) variant DOID:630 genetic disease IAGP D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16613899|PMID:16885549|PMID:18025408|PMID:18981553|PMID:21989597|PMID:27538677|PMID:28492532|PMID:32027066|PMID:32792356 10051019 CV192812 NM_001278116.2(L1CAM):c.3015C>T (p.Ile1005=) variant DOID:607 paraplegia IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:25741868|PMID:28492532 10051020 CV192813 NM_000444.6(PHEX):c.2214G>A (p.Thr738=) variant DOID:0050445 X-linked hypophosphatemic rickets IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Familial X-linked hypophosphatemic vitamin D refractory rickets PMID:28492532 10051021 CV192814 NM_201384.3(PLEC):c.2604C>T (p.Ala868=) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:25741868|PMID:28492532 10051022 CV192815 NM_201384.3(PLEC):c.2458-8C>T variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy PMID:26467025|PMID:28492532 10051023 CV192816 NM_201384.3(PLEC):c.2497C>T (p.Pro833Ser) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy PMID:25741868|PMID:28492532 10051023 CV192816 NM_201384.3(PLEC):c.2497C>T (p.Pro833Ser) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10051024 CV192817 NM_201384.3(PLEC):c.2551G>A (p.Val851Met) variant DOID:0060736 epidermolysis bullosa simplex Ogna type IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Ogna type PMID:26467025|PMID:28492532 10051024 CV192817 NM_201384.3(PLEC):c.2551G>A (p.Val851Met) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy PMID:26467025|PMID:28492532 10051024 CV192817 NM_201384.3(PLEC):c.2551G>A (p.Val851Met) variant DOID:0110285 autosomal recessive limb-girdle muscular dystrophy type 2Q IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2Q PMID:26467025|PMID:28492532 10051024 CV192817 NM_201384.3(PLEC):c.2551G>A (p.Val851Met) variant DOID:9001254 Epidermolysis Bullosa Simplex 5D with Nail Dystrophy IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy PMID:26467025|PMID:28492532 10051024 CV192817 NM_201384.3(PLEC):c.2551G>A (p.Val851Met) variant DOID:9003881 Epidermolysis Bullosa Simplex 5C with Pyloric Atresia IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with pyloric atresia PMID:26467025|PMID:28492532 10051025 CV192819 NM_000702.4(ATP1A2):c.3034+6C>A variant DOID:0060178 familial hemiplegic migraine IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Familial hemiplegic migraine PMID:28492532 10051026 CV192820 NM_001035.3(RYR2):c.2449C>G (p.Pro817Ala) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10051026 CV192820 NM_001035.3(RYR2):c.2449C>G (p.Pro817Ala) variant DOID:0060674 catecholaminergic polymorphic ventricular tachycardia IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28492532 10051026 CV192820 NM_001035.3(RYR2):c.2449C>G (p.Pro817Ala) variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:25741868|PMID:28492532 10051027 CV192821 NM_001377.3(DYNC2H1):c.3181C>G (p.Leu1061Val) variant DOID:0050592 asphyxiating thoracic dystrophy IAGP D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:25741868|PMID:28492532 10051027 CV192821 NM_001377.3(DYNC2H1):c.3181C>G (p.Leu1061Val) variant DOID:0110087 asphyxiating thoracic dystrophy 3 IAGP D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 3 with or without polydactyly PMID:25741868|PMID:28492532 10051027 CV192821 NM_001377.3(DYNC2H1):c.3181C>G (p.Leu1061Val) variant DOID:1059 intellectual disability IAGP D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 10051028 CV192825 NM_001130438.3(SPTAN1):c.3133C>T (p.Arg1045Trp) variant DOID:0080438 developmental and epileptic encephalopathy 5 IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 5 PMID:25741868|PMID:28492532 10051028 CV192825 NM_001130438.3(SPTAN1):c.3133C>T (p.Arg1045Trp) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:25741868|PMID:28492532 10051028 CV192825 NM_001130438.3(SPTAN1):c.3133C>T (p.Arg1045Trp) variant DOID:2538 Landau-Kleffner syndrome IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Acquired epileptiform aphasia PMID:25741868|PMID:28492532 10051028 CV192825 NM_001130438.3(SPTAN1):c.3133C>T (p.Arg1045Trp) variant DOID:630 genetic disease IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10051029 CV192827 NM_001142800.2(EYS):c.3250A>C (p.Thr1084Pro) variant DOID:0110384 retinitis pigmentosa 25 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 25 PMID:25097241|PMID:26667666|PMID:28492532|PMID:29550188 10051029 CV192827 NM_001142800.2(EYS):c.3250A>C (p.Thr1084Pro) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa PMID:25097241|PMID:26667666|PMID:28492532|PMID:29550188 10051029 CV192827 NM_001142800.2(EYS):c.3250A>C (p.Thr1084Pro) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25097241|PMID:26667666|PMID:28492532|PMID:29550188 10051030 CV192828 NM_001297.5(CNGB1):c.2209C>T (p.Arg737Cys) variant DOID:0110402 retinitis pigmentosa 45 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: CNGB1-related condition PMID:25741868|PMID:28492532|PMID:30367527|PMID:30902645|PMID:36819107 10051030 CV192828 NM_001297.5(CNGB1):c.2209C>T (p.Arg737Cys) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532|PMID:30367527|PMID:30902645|PMID:36819107 10051030 CV192828 NM_001297.5(CNGB1):c.2209C>T (p.Arg737Cys) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532|PMID:30367527|PMID:30902645|PMID:36819107 10051031 CV192830 NM_001110556.2(FLNA):c.3282C>G (p.Gly1094=) variant DOID:0050454 periventricular nodular heterotopia IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Periventricular nodular heterotopia 1 PMID:28492532 10051031 CV192830 NM_001110556.2(FLNA):c.3282C>G (p.Gly1094=) variant DOID:0111784 otopalatodigital syndrome type 2 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II PMID:28492532 10051031 CV192830 NM_001110556.2(FLNA):c.3282C>G (p.Gly1094=) variant DOID:0111785 frontometaphyseal dysplasia IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Frontometaphyseal dysplasia PMID:28492532 10051031 CV192830 NM_001110556.2(FLNA):c.3282C>G (p.Gly1094=) variant DOID:0111788 Melnick-Needles syndrome IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles PMID:28492532 10051031 CV192830 NM_001110556.2(FLNA):c.3282C>G (p.Gly1094=) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:28492532 10051031 CV192830 NM_001110556.2(FLNA):c.3282C>G (p.Gly1094=) variant DOID:9005082 Periventricular Nodular Heterotopia 4 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant PMID:28492532 10051032 CV192831 NM_001110556.2(FLNA):c.3285C>T (p.Ala1095=) variant DOID:0050454 periventricular nodular heterotopia IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Periventricular nodular heterotopia 1 PMID:25741868|PMID:28492532 10051032 CV192831 NM_001110556.2(FLNA):c.3285C>T (p.Ala1095=) variant DOID:0111784 otopalatodigital syndrome type 2 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II PMID:25741868|PMID:28492532 10051032 CV192831 NM_001110556.2(FLNA):c.3285C>T (p.Ala1095=) variant DOID:0111785 frontometaphyseal dysplasia IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Frontometaphyseal dysplasia PMID:25741868|PMID:28492532 10051032 CV192831 NM_001110556.2(FLNA):c.3285C>T (p.Ala1095=) variant DOID:0111788 Melnick-Needles syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles PMID:25741868|PMID:28492532 10051032 CV192831 NM_001110556.2(FLNA):c.3285C>T (p.Ala1095=) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10051032 CV192831 NM_001110556.2(FLNA):c.3285C>T (p.Ala1095=) variant DOID:9005082 Periventricular Nodular Heterotopia 4 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant PMID:25741868|PMID:28492532 10051033 CV192832 NM_001110556.2(FLNA):c.3348C>A (p.Asp1116Glu) variant DOID:0050454 periventricular nodular heterotopia IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:28492532 10051034 CV192834 NM_002335.4(LRP5):c.4565C>T (p.Pro1522Leu) variant DOID:0060849 osteoporosis-pseudoglioma syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Pseudoglioma with bone fragility PMID:25741868|PMID:28492532 10051034 CV192834 NM_002335.4(LRP5):c.4565C>T (p.Pro1522Leu) variant DOID:0060977 polycystic liver disease 4 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Polycystic liver disease 4 with or without kidney cysts PMID:25741868|PMID:28492532 10051034 CV192834 NM_002335.4(LRP5):c.4565C>T (p.Pro1522Leu) variant DOID:0080037 Worth syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Osteosclerosis autosomal dominant Worth type PMID:25741868|PMID:28492532 10051034 CV192834 NM_002335.4(LRP5):c.4565C>T (p.Pro1522Leu) variant DOID:0110937 autosomal dominant osteopetrosis 1 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: OSTEOPETROSIS, AUTOSOMAL DOMINANT, TYPE I PMID:25741868|PMID:28492532 10051034 CV192834 NM_002335.4(LRP5):c.4565C>T (p.Pro1522Leu) variant DOID:0111411 exudative vitreoretinopathy 4 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 4 PMID:25741868|PMID:28492532 10051035 CV192837 NM_001365536.1(SCN9A):c.4073G>A (p.Arg1358Gln) variant DOID:0070155 hereditary sensory and autonomic neuropathy type 2A IAGP D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A PMID:25741868|PMID:28492532 10051035 CV192837 NM_001365536.1(SCN9A):c.4073G>A (p.Arg1358Gln) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10051035 CV192837 NM_001365536.1(SCN9A):c.4073G>A (p.Arg1358Gln) variant DOID:9240 erythromelalgia IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Primary erythromelalgia PMID:25741868|PMID:28492532 10051036 CV192838 NM_001130987.2(DYSF):c.2216+6G>C variant DOID:0110276 autosomal recessive limb-girdle muscular dystrophy type 2B IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 3 PMID:17576681|PMID:28492532|PMID:9536098 10051036 CV192838 NM_001130987.2(DYSF):c.2216+6G>C variant DOID:9004518 Dysferlinopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dysferlinopathy PMID:17576681|PMID:28492532|PMID:9536098 10051037 CV192842 NM_001164508.2(NEB):c.2020G>A (p.Val674Ile) variant DOID:0110928 nemaline myopathy 2 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 2 PMID:25741868|PMID:28492532 10051037 CV192842 NM_001164508.2(NEB):c.2020G>A (p.Val674Ile) variant DOID:630 genetic disease IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10051038 CV192843 NM_005045.4(RELN):c.2954C>G (p.Ala985Gly) variant DOID:0060748 familial temporal lobe epilepsy 1 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Familial temporal lobe epilepsy 1 PMID:25741868|PMID:28492532 10051038 CV192843 NM_005045.4(RELN):c.2954C>G (p.Ala985Gly) variant DOID:0060902 Norman-Roberts syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Norman-Roberts syndrome PMID:25741868|PMID:28492532 10051039 CV192845 NM_006922.4(SCN3A):c.3933T>C (p.Pro1311=) variant DOID:0081424 familial focal epilepsy with variable foci 4 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: SCN3A-related disorder PMID:26467025|PMID:28492532 10051040 CV192846 NM_012301.4(MAGI2):c.4109G>C (p.Arg1370Pro) variant DOID:0080271 nephrotic syndrome type 15 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome 15 PMID:25741868 10051042 CV192849 NM_001330260.2(SCN8A):c.3967G>A (p.Ala1323Thr) variant DOID:0080445 developmental and epileptic encephalopathy 13 IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 13 PMID:25741868|PMID:26993267|PMID:28492532|PMID:29100083|PMID:30968951|PMID:31904124|PMID:33201365|PMID:34979445 10051042 CV192849 NM_001330260.2(SCN8A):c.3967G>A (p.Ala1323Thr) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:25741868|PMID:26993267|PMID:28492532|PMID:29100083|PMID:30968951|PMID:31904124|PMID:33201365|PMID:34979445 10051042 CV192849 NM_001330260.2(SCN8A):c.3967G>A (p.Ala1323Thr) variant DOID:630 genetic disease IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26993267|PMID:28492532|PMID:29100083|PMID:30968951|PMID:31904124|PMID:33201365|PMID:34979445 10051042 CV192849 NM_001330260.2(SCN8A):c.3967G>A (p.Ala1323Thr) variant DOID:9008255 Cognitive Impairment with or Without Cerebellar Ataxia IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Cognitive impairment with or without cerebellar ataxia PMID:25741868|PMID:26993267|PMID:28492532|PMID:29100083|PMID:30968951|PMID:31904124|PMID:33201365|PMID:34979445 10051044 CV192851 NM_014714.4(IFT140):c.2829G>A (p.Pro943=) variant DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia PMID:28492532 10051044 CV192851 NM_014714.4(IFT140):c.2829G>A (p.Pro943=) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532 10051046 CV192853 NM_017534.6(MYH2):c.2565G>A (p.Met855Ile) variant DOID:0080719 congenital myopathy 6 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia PMID:25741868|PMID:28492532 10051046 CV192853 NM_017534.6(MYH2):c.2565G>A (p.Met855Ile) variant DOID:630 genetic disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10051048 CV192856 NM_001040142.2(SCN2A):c.4156T>G (p.Cys1386Gly) variant DOID:0081116 benign familial infantile seizures 3 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 PMID:28492532|PMID:29056246 10051049 CV192857 NM_001384732.1(CPLANE1):c.3828T>C (p.Leu1276=) variant DOID:0110986 Joubert Syndrome 17 IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Joubert syndrome 17 PMID:25741868|PMID:26092869|PMID:28492532 10051049 CV192857 NM_001384732.1(CPLANE1):c.3828T>C (p.Leu1276=) variant DOID:630 genetic disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26092869|PMID:28492532 10051050 CV192860 NM_138694.4(PKHD1):c.2172_2174del (p.Gly726del) variant DOID:0080212 polycystic kidney disease 4 IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease 4 10051051 CV192861 NM_138694.4(PKHD1):c.2279+13T>G variant DOID:0110861 autosomal recessive polycystic kidney disease IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease PMID:25741868|PMID:28492532 10051052 CV192862 NM_138694.4(PKHD1):c.2167C>T (p.Arg723Cys) variant DOID:0080212 polycystic kidney disease 4 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease 4 PMID:19914852|PMID:25646624|PMID:25741868|PMID:27225849|PMID:28492532|PMID:29956005 10051052 CV192862 NM_138694.4(PKHD1):c.2167C>T (p.Arg723Cys) variant DOID:0110861 autosomal recessive polycystic kidney disease IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease PMID:19914852|PMID:25646624|PMID:25741868|PMID:27225849|PMID:28492532|PMID:29956005 10051053 CV192863 NM_147127.5(EVC2):c.3703T>C (p.Phe1235Leu) variant DOID:12714 Ellis-Van Creveld syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:28492532 10051055 CV192865 NM_194248.3(OTOF):c.2575C>T (p.Arg859Cys) variant DOID:0050565 autosomal recessive nonsyndromic deafness IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB 10051055 CV192865 NM_194248.3(OTOF):c.2575C>T (p.Arg859Cys) variant DOID:0110535 autosomal recessive nonsyndromic deafness 9 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: OTOF-related condition 10051055 CV192865 NM_194248.3(OTOF):c.2575C>T (p.Arg859Cys) variant DOID:9004538 Hearing Loss IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive 10051056 CV192866 NM_213599.3(ANO5):c.2521C>G (p.His841Asp) variant DOID:0110274 autosomal recessive limb-girdle muscular dystrophy IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy PMID:23606453|PMID:24022920|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31395899|PMID:32399949|PMID:32403337|PMID:32528171 10051056 CV192866 NM_213599.3(ANO5):c.2521C>G (p.His841Asp) variant DOID:0111533 gnathodiaphyseal dysplasia IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Gnathodiaphyseal dysplasia PMID:23606453|PMID:24022920|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31395899|PMID:32399949|PMID:32403337|PMID:32528171 10051056 CV192866 NM_213599.3(ANO5):c.2521C>G (p.His841Asp) variant DOID:11724 limb-girdle muscular dystrophy IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy PMID:23606453|PMID:24022920|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31395899|PMID:32399949|PMID:32403337|PMID:32528171 10051057 CV192867 NM_213599.3(ANO5):c.2698A>C (p.Met900Leu) variant DOID:0110284 autosomal recessive limb-girdle muscular dystrophy type 2L IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2L PMID:23606453|PMID:23670307|PMID:25741868|PMID:25891276|PMID:26467025|PMID:28492532|PMID:30564623 10051057 CV192867 NM_213599.3(ANO5):c.2698A>C (p.Met900Leu) variant DOID:0111533 gnathodiaphyseal dysplasia IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Gnathodiaphyseal dysplasia PMID:23606453|PMID:23670307|PMID:25741868|PMID:25891276|PMID:26467025|PMID:28492532|PMID:30564623 10051058 CV192868 NM_001267550.2(TTN):c.51231C>A (p.Thr17077=) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:25741868|PMID:28492532 10051058 CV192868 NM_001267550.2(TTN):c.51231C>A (p.Thr17077=) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:25741868|PMID:28492532 10051059 CV192869 NM_001267550.2(TTN):c.51273G>A (p.Arg17091=) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Myopathy, early-onset, with fatal cardiomyopathy PMID:26467025|PMID:28492532 10051059 CV192869 NM_001267550.2(TTN):c.51273G>A (p.Arg17091=) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2J PMID:26467025|PMID:28492532 10051059 CV192869 NM_001267550.2(TTN):c.51273G>A (p.Arg17091=) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:26467025|PMID:28492532 10051059 CV192869 NM_001267550.2(TTN):c.51273G>A (p.Arg17091=) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:26467025|PMID:28492532 10051059 CV192869 NM_001267550.2(TTN):c.51273G>A (p.Arg17091=) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:26467025|PMID:28492532 10051060 CV192870 NM_001267550.2(TTN):c.52022G>A (p.Arg17341Gln) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:26498160|PMID:28492532 10051060 CV192870 NM_001267550.2(TTN):c.52022G>A (p.Arg17341Gln) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10 PMID:25741868|PMID:26498160|PMID:28492532 10051060 CV192870 NM_001267550.2(TTN):c.52022G>A (p.Arg17341Gln) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:25741868|PMID:26498160|PMID:28492532 10051061 CV192871 NM_001267550.2(TTN):c.52004G>A (p.Arg17335His) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10 PMID:24033266|PMID:25741868|PMID:28492532 10051061 CV192871 NM_001267550.2(TTN):c.52004G>A (p.Arg17335His) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:24033266|PMID:25741868|PMID:28492532 10051062 CV192872 NM_001267550.2(TTN):c.52374T>C (p.Val17458=) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10 PMID:28492532 10051062 CV192872 NM_001267550.2(TTN):c.52374T>C (p.Val17458=) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:28492532 10051064 CV192874 NM_001267550.2(TTN):c.52656T>C (p.Pro17552=) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:26467025|PMID:28492532 10051064 CV192874 NM_001267550.2(TTN):c.52656T>C (p.Pro17552=) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:26467025|PMID:28492532 10051065 CV192875 NM_001267550.2(TTN):c.52880G>A (p.Arg17627His) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:25741868|PMID:28492532 10051067 CV192877 NM_001267550.2(TTN):c.53590A>G (p.Thr17864Ala) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:25741868|PMID:28492532 10051067 CV192877 NM_001267550.2(TTN):c.53590A>G (p.Thr17864Ala) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant PMID:25741868|PMID:28492532 10051068 CV192878 NM_001267550.2(TTN):c.54054G>A (p.Lys18018=) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:28492532 10051068 CV192878 NM_001267550.2(TTN):c.54054G>A (p.Lys18018=) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:28492532 10051070 CV192880 NM_000070.3(CAPN3):c.2409A>T (p.Gly803=) variant DOID:0110275 autosomal recessive limb-girdle muscular dystrophy type 2A IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2A PMID:28492532 10051071 CV192881 NM_000257.4(MYH7):c.3056C>A (p.Thr1019Asn) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:15769782|PMID:25342278|PMID:25741868|PMID:28492532|PMID:28771489|PMID:33495597|PMID:33642254 10051071 CV192881 NM_000257.4(MYH7):c.3056C>A (p.Thr1019Asn) variant DOID:0060253 scapuloperoneal myopathy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: MYH7-related late-onset scapuloperoneal muscular dystrophy PMID:15769782|PMID:25342278|PMID:25741868|PMID:28492532|PMID:28771489|PMID:33495597|PMID:33642254 10051071 CV192881 NM_000257.4(MYH7):c.3056C>A (p.Thr1019Asn) variant DOID:0070197 distal myopathy 1 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Laing early-onset distal myopathy PMID:15769782|PMID:25342278|PMID:25741868|PMID:28492532|PMID:28771489|PMID:33495597|PMID:33642254 10051071 CV192881 NM_000257.4(MYH7):c.3056C>A (p.Thr1019Asn) variant DOID:0110307 hypertrophic cardiomyopathy 1 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 PMID:15769782|PMID:25342278|PMID:25741868|PMID:28492532|PMID:28771489|PMID:33495597|PMID:33642254 10051071 CV192881 NM_000257.4(MYH7):c.3056C>A (p.Thr1019Asn) variant DOID:0110454 dilated cardiomyopathy 1S IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1S PMID:15769782|PMID:25342278|PMID:25741868|PMID:28492532|PMID:28771489|PMID:33495597|PMID:33642254 10051071 CV192881 NM_000257.4(MYH7):c.3056C>A (p.Thr1019Asn) variant DOID:0111267 hyaline body myopathy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Myosin storage myopathy PMID:15769782|PMID:25342278|PMID:25741868|PMID:28492532|PMID:28771489|PMID:33495597|PMID:33642254 10051071 CV192881 NM_000257.4(MYH7):c.3056C>A (p.Thr1019Asn) variant DOID:0111268 autosomal recessive hyaline body myopathy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: CONGENITAL MYOPATHY 7B, MYOSIN STORAGE, AUTOSOMAL RECESSIVE PMID:15769782|PMID:25342278|PMID:25741868|PMID:28492532|PMID:28771489|PMID:33495597|PMID:33642254 10051071 CV192881 NM_000257.4(MYH7):c.3056C>A (p.Thr1019Asn) variant DOID:0111269 autosomal dominant hyaline body myopathy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Congenital myopathy 7A, myosin storage, autosomal dominant PMID:15769782|PMID:25342278|PMID:25741868|PMID:28492532|PMID:28771489|PMID:33495597|PMID:33642254 10051071 CV192881 NM_000257.4(MYH7):c.3056C>A (p.Thr1019Asn) variant DOID:11720 distal myopathy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY PMID:15769782|PMID:25342278|PMID:25741868|PMID:28492532|PMID:28771489|PMID:33495597|PMID:33642254 10051071 CV192881 NM_000257.4(MYH7):c.3056C>A (p.Thr1019Asn) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:15769782|PMID:25342278|PMID:25741868|PMID:28492532|PMID:28771489|PMID:33495597|PMID:33642254 10051072 CV192882 NM_000264.5(PTCH1):c.3960A>G (p.Arg1320=) variant DOID:2512 nevoid basal cell carcinoma syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Gorlin syndrome PMID:26467025|PMID:28492532 10051072 CV192882 NM_000264.5(PTCH1):c.3960A>G (p.Arg1320=) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:26467025|PMID:28492532 10051073 CV192883 NM_000271.5(NPC1):c.3591+4del variant DOID:0070113 Niemann-Pick disease type C1 IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease type C1 PMID:17576681|PMID:26666848|PMID:28492532|PMID:28710748|PMID:9536098 10051074 CV192884 NM_000271.5(NPC1):c.3493G>A (p.Val1165Met) variant DOID:0070113 Niemann-Pick disease type C1 IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C1 PMID:11349231|PMID:17160617|PMID:19744920|PMID:23430855|PMID:25349751|PMID:25741868|PMID:26666848|PMID:28492532|PMID:32138288|PMID:33163944|PMID:34296265 10051075 CV192885 NM_000271.5(NPC1):c.3528G>A (p.Thr1176=) variant DOID:0070113 Niemann-Pick disease type C1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C1 PMID:28492532 10051075 CV192885 NM_000271.5(NPC1):c.3528G>A (p.Thr1176=) variant DOID:630 genetic disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10051076 CV192886 NM_000275.3(OCA2):c.2425T>A (p.Phe809Ile) variant DOID:0070096 oculocutaneous albinism type II IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tyrosinase-positive oculocutaneous albinism PMID:25741868|PMID:28492532|PMID:29345414 10051076 CV192886 NM_000275.3(OCA2):c.2425T>A (p.Phe809Ile) variant DOID:9000752 Skin/Hair/Eye Pigmentation, Variation In, 1 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES PMID:25741868|PMID:28492532|PMID:29345414 10051077 CV192888 NM_000368.5(TSC1):c.3278G>A (p.Arg1093Gln) variant DOID:0080324 tuberous sclerosis 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:25741868|PMID:28492532 10051077 CV192888 NM_000368.5(TSC1):c.3278G>A (p.Arg1093Gln) variant DOID:13515 tuberous sclerosis IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis syndrome PMID:25741868|PMID:28492532 10051077 CV192888 NM_000368.5(TSC1):c.3278G>A (p.Arg1093Gln) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532 10051077 CV192888 NM_000368.5(TSC1):c.3278G>A (p.Arg1093Gln) variant DOID:9008426 Focal Cortical Dysplasia of Taylor IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Focal cortical dysplasia type 2 PMID:25741868|PMID:28492532 10051078 CV192889 NM_000368.5(TSC1):c.3347G>A (p.Ser1116Asn) variant DOID:0080324 tuberous sclerosis 1 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 1 PMID:28492532 10051080 CV192892 NM_000492.4(CFTR):c.3747G>A (p.Gly1249=) variant DOID:1485 cystic fibrosis IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Cystic fibrosis PMID:28492532 10051081 CV192893 NM_000492.4(CFTR):c.3815T>A (p.Val1272Glu) variant DOID:1485 cystic fibrosis IAGP D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Cystic fibrosis PMID:25741868|PMID:28492532 10051083 CV192896 NM_001142800.2(EYS):c.3568+5T>C variant DOID:0110384 retinitis pigmentosa 25 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 25 PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 10051083 CV192896 NM_001142800.2(EYS):c.3568+5T>C variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 10051083 CV192896 NM_001142800.2(EYS):c.3568+5T>C variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 10051086 CV192899 NM_001184.4(ATR):c.4153-21dup variant DOID:0050569 Seckel syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Seckel syndrome PMID:28492532 10051087 CV192900 NM_001110556.2(FLNA):c.3876C>T (p.His1292=) variant DOID:0050454 periventricular nodular heterotopia IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:25741868|PMID:28492532 10051087 CV192900 NM_001110556.2(FLNA):c.3876C>T (p.His1292=) variant DOID:0111784 otopalatodigital syndrome type 2 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II PMID:25741868|PMID:28492532 10051087 CV192900 NM_001110556.2(FLNA):c.3876C>T (p.His1292=) variant DOID:0111785 frontometaphyseal dysplasia IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Frontometaphyseal dysplasia PMID:25741868|PMID:28492532 10051087 CV192900 NM_001110556.2(FLNA):c.3876C>T (p.His1292=) variant DOID:0111788 Melnick-Needles syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles PMID:25741868|PMID:28492532 10051087 CV192900 NM_001110556.2(FLNA):c.3876C>T (p.His1292=) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10051087 CV192900 NM_001110556.2(FLNA):c.3876C>T (p.His1292=) variant DOID:65 connective tissue disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Connective tissue disease PMID:25741868|PMID:28492532 10051087 CV192900 NM_001110556.2(FLNA):c.3876C>T (p.His1292=) variant DOID:9005082 Periventricular Nodular Heterotopia 4 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant PMID:25741868|PMID:28492532 10051088 CV192901 NM_001458.5(FLNC):c.3966C>T (p.Gly1322=) variant DOID:0080096 myofibrillar myopathy 5 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 5 PMID:25741868|PMID:28492532 10051088 CV192901 NM_001458.5(FLNC):c.3966C>T (p.Gly1322=) variant DOID:0110327 hypertrophic cardiomyopathy 26 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 26 PMID:25741868|PMID:28492532 10051088 CV192901 NM_001458.5(FLNC):c.3966C>T (p.Gly1322=) variant DOID:0111190 distal myopathy 4 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Distal myopathy with posterior leg and anterior hand involvement PMID:25741868|PMID:28492532 10051088 CV192901 NM_001458.5(FLNC):c.3966C>T (p.Gly1322=) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant PMID:25741868|PMID:28492532 10051089 CV192902 NM_001458.5(FLNC):c.4022G>A (p.Arg1341Gln) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:25208129|PMID:25741868|PMID:28356264|PMID:28492532 10051089 CV192902 NM_001458.5(FLNC):c.4022G>A (p.Arg1341Gln) variant DOID:0080096 myofibrillar myopathy 5 IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 5 PMID:25208129|PMID:25741868|PMID:28356264|PMID:28492532 10051089 CV192902 NM_001458.5(FLNC):c.4022G>A (p.Arg1341Gln) variant DOID:0110327 hypertrophic cardiomyopathy 26 IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 26 PMID:25208129|PMID:25741868|PMID:28356264|PMID:28492532 10051089 CV192902 NM_001458.5(FLNC):c.4022G>A (p.Arg1341Gln) variant DOID:0111190 distal myopathy 4 IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Distal myopathy with posterior leg and anterior hand involvement PMID:25208129|PMID:25741868|PMID:28356264|PMID:28492532 10051089 CV192902 NM_001458.5(FLNC):c.4022G>A (p.Arg1341Gln) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant PMID:25208129|PMID:25741868|PMID:28356264|PMID:28492532 10051090 CV192906 NM_001848.3(COL6A1):c.1575C>T (p.Pro525=) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1A PMID:28492532 10051092 CV192909 NM_001130987.2(DYSF):c.2386C>T (p.Arg796Cys) variant DOID:0070198 Miyoshi muscular dystrophy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, distal, late onset, autosomal recessive PMID:25741868|PMID:28492532 10051092 CV192909 NM_001130987.2(DYSF):c.2386C>T (p.Arg796Cys) variant DOID:0110274 autosomal recessive limb-girdle muscular dystrophy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive PMID:25741868|PMID:28492532 10051092 CV192909 NM_001130987.2(DYSF):c.2386C>T (p.Arg796Cys) variant DOID:0110276 autosomal recessive limb-girdle muscular dystrophy type 2B IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 3 PMID:25741868|PMID:28492532 10051093 CV192910 NM_001130987.2(DYSF):c.2335G>A (p.Gly779Ser) variant DOID:0070199 Miyoshi muscular dystrophy 1 IAGP D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Miyoshi muscular dystrophy 1 PMID:25741868|PMID:28492532 10051093 CV192910 NM_001130987.2(DYSF):c.2335G>A (p.Gly779Ser) variant DOID:0110276 autosomal recessive limb-girdle muscular dystrophy type 2B IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 3 PMID:25741868|PMID:28492532 10051093 CV192910 NM_001130987.2(DYSF):c.2335G>A (p.Gly779Ser) variant DOID:0111187 distal myopathy with anterior tibial onset IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Myopathy, distal, with anterior tibial onset PMID:25741868|PMID:28492532 10051093 CV192910 NM_001130987.2(DYSF):c.2335G>A (p.Gly779Ser) variant DOID:9004518 Dysferlinopathy IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dysferlinopathy PMID:25741868|PMID:28492532 10051094 CV192912 NM_004006.3(DMD):c.3101C>T (p.Ser1034Phe) variant DOID:11723 Duchenne muscular dystrophy IAGP D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:28492532 10051094 CV192912 NM_004006.3(DMD):c.3101C>T (p.Ser1034Phe) variant DOID:9883 Becker muscular dystrophy IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Becker muscular dystrophy PMID:28492532 10051095 CV192914 NM_004006.3(DMD):c.3098C>T (p.Ser1033Phe) variant DOID:11723 Duchenne muscular dystrophy IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:28492532 10051096 CV192916 NM_004415.4(DSP):c.5188G>A (p.Glu1730Lys) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma PMID:25741868|PMID:28492532 10051096 CV192916 NM_004415.4(DSP):c.5188G>A (p.Glu1730Lys) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 8 PMID:25741868|PMID:28492532 10051098 CV192918 NM_005045.4(RELN):c.3123C>T (p.Gly1041=) variant DOID:0060748 familial temporal lobe epilepsy 1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 PMID:25741868|PMID:28492532 10051098 CV192918 NM_005045.4(RELN):c.3123C>T (p.Gly1041=) variant DOID:0060751 familial temporal lobe epilepsy 7 IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Familial temporal lobe epilepsy 7 PMID:25741868|PMID:28492532 10051098 CV192918 NM_005045.4(RELN):c.3123C>T (p.Gly1041=) variant DOID:0060902 Norman-Roberts syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Norman-Roberts syndrome PMID:25741868|PMID:28492532 10051101 CV192922 NM_005633.4(SOS1):c.3769A>G (p.Thr1257Ala) variant DOID:0060582 Noonan syndrome 4 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Noonan syndrome 4 PMID:21387466|PMID:25741868|PMID:28492532 10051101 CV192922 NM_005633.4(SOS1):c.3769A>G (p.Thr1257Ala) variant DOID:0080690 RASopathy IAGP D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: RASopathy PMID:21387466|PMID:25741868|PMID:28492532 10051101 CV192922 NM_005633.4(SOS1):c.3769A>G (p.Thr1257Ala) variant DOID:9003091 Noonan Like Syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: NOONAN SYNDROME WITH PIGMENTED VILLONODULAR SYNOVITIS PMID:21387466|PMID:25741868|PMID:28492532 10051101 CV192922 NM_005633.4(SOS1):c.3769A>G (p.Thr1257Ala) variant DOID:9003873 Gingival Fibromatosis 1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Fibromatosis, gingival, 1 PMID:21387466|PMID:25741868|PMID:28492532 10051105 CV192930 NM_017534.6(MYH2):c.2908G>A (p.Val970Ile) variant DOID:0080719 congenital myopathy 6 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia PMID:15741996|PMID:28492532 10051106 CV192932 NM_017780.4(CHD7):c.5115G>A (p.Pro1705=) variant DOID:0050834 CHARGE syndrome IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Hall-Hittner syndrome PMID:28492532 10051106 CV192932 NM_017780.4(CHD7):c.5115G>A (p.Pro1705=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10051107 CV192933 NM_152564.5(VPS13B):c.3406G>A (p.Glu1136Lys) variant DOID:0111590 Cohen syndrome IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 10051107 CV192933 NM_152564.5(VPS13B):c.3406G>A (p.Glu1136Lys) variant DOID:630 genetic disease IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10051107 CV192933 NM_152564.5(VPS13B):c.3406G>A (p.Glu1136Lys) variant DOID:9001162 Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness PMID:28492532 10051110 CV192936 NM_022455.5(NSD1):c.6887T>C (p.Val2296Ala) variant DOID:0112103 Sotos syndrome 1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: SOTOS SYNDROME 1 PMID:25741868|PMID:28492532 10051110 CV192936 NM_022455.5(NSD1):c.6887T>C (p.Val2296Ala) variant DOID:14748 Sotos syndrome IAGP D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Sotos syndrome PMID:25741868|PMID:28492532 10051110 CV192936 NM_022455.5(NSD1):c.6887T>C (p.Val2296Ala) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10051110 CV192936 NM_022455.5(NSD1):c.6887T>C (p.Val2296Ala) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532 10051113 CV192940 NM_182961.4(SYNE1):c.2569-8C>T variant DOID:0070249 autosomal dominant Emery-Dreifuss muscular dystrophy 4 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant PMID:26467025|PMID:28492532 10051113 CV192940 NM_182961.4(SYNE1):c.2569-8C>T variant DOID:0111618 autosomal recessive spinocerebellar ataxia 8 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 PMID:26467025|PMID:28492532 10051114 CV192941 NM_052989.3(IFT122):c.2749T>G (p.Tyr917Asp) variant DOID:0080803 cranioectodermal dysplasia 1 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Cranioectodermal dysplasia 1 PMID:25741868|PMID:28492532 10051115 CV192942 NM_052989.3(IFT122):c.2721G>A (p.Ala907=) variant DOID:0080803 cranioectodermal dysplasia 1 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cranioectodermal dysplasia 1 PMID:28492532 10051116 CV192943 NM_052989.3(IFT122):c.2720C>T (p.Ala907Val) variant DOID:0080803 cranioectodermal dysplasia 1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cranioectodermal dysplasia 1 PMID:25741868 10051117 CV192944 NM_133433.4(NIPBL):c.4683G>C (p.Leu1561=) variant DOID:0080505 Cornelia de Lange syndrome 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 PMID:28492532 10051118 CV192945 NM_153240.5(NPHP3):c.3281G>A (p.Arg1094Gln) variant DOID:0070121 Meckel syndrome 7 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Meckel syndrome type 7 PMID:25741868|PMID:28492532 10051118 CV192945 NM_153240.5(NPHP3):c.3281G>A (p.Arg1094Gln) variant DOID:0111112 nephronophthisis 1 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:25741868|PMID:28492532 10051118 CV192945 NM_153240.5(NPHP3):c.3281G>A (p.Arg1094Gln) variant DOID:0111114 nephronophthisis 3 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Nephronophthisis 3 PMID:25741868|PMID:28492532 10051118 CV192945 NM_153240.5(NPHP3):c.3281G>A (p.Arg1094Gln) variant DOID:12712 nephronophthisis IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:25741868|PMID:28492532 10051118 CV192945 NM_153240.5(NPHP3):c.3281G>A (p.Arg1094Gln) variant DOID:9001991 Renal-Hepatic-Pancreatic Dysplasia 1 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Renal-hepatic-pancreatic dysplasia 1 PMID:25741868|PMID:28492532 10051120 CV192949 NM_206933.4(USH2A):c.4796G>A (p.Gly1599Asp) variant DOID:0110838 Usher syndrome type 2A IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2A PMID:25741868|PMID:28492532|PMID:33528103 10051120 CV192949 NM_206933.4(USH2A):c.4796G>A (p.Gly1599Asp) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532|PMID:33528103 10051121 CV192952 NM_001267550.2(TTN):c.54321A>G (p.Ala18107=) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Myopathy, early-onset, with fatal cardiomyopathy PMID:24033266|PMID:28492532 10051121 CV192952 NM_001267550.2(TTN):c.54321A>G (p.Ala18107=) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2J PMID:24033266|PMID:28492532 10051121 CV192952 NM_001267550.2(TTN):c.54321A>G (p.Ala18107=) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:24033266|PMID:28492532 10051121 CV192952 NM_001267550.2(TTN):c.54321A>G (p.Ala18107=) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:24033266|PMID:28492532 10051121 CV192952 NM_001267550.2(TTN):c.54321A>G (p.Ala18107=) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:24033266|PMID:28492532 10051122 CV192953 NM_001267550.2(TTN):c.54741G>A (p.Met18247Ile) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Salih Myopathy PMID:25741868 10051122 CV192953 NM_001267550.2(TTN):c.54741G>A (p.Met18247Ile) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10 PMID:25741868 10051122 CV192953 NM_001267550.2(TTN):c.54741G>A (p.Met18247Ile) variant DOID:0110315 hypertrophic cardiomyopathy 9 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 9 PMID:25741868 10051122 CV192953 NM_001267550.2(TTN):c.54741G>A (p.Met18247Ile) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:25741868 10051122 CV192953 NM_001267550.2(TTN):c.54741G>A (p.Met18247Ile) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Udd Distal Myopathy PMID:25741868 10051122 CV192953 NM_001267550.2(TTN):c.54741G>A (p.Met18247Ile) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant PMID:25741868 10051125 CV192956 NM_001267550.2(TTN):c.55520G>A (p.Gly18507Glu) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:25741868 10051126 CV192957 NM_001267550.2(TTN):c.56535G>A (p.Thr18845=) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10051126 CV192957 NM_001267550.2(TTN):c.56535G>A (p.Thr18845=) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Myopathy, early-onset, with fatal cardiomyopathy PMID:25741868|PMID:28492532 10051126 CV192957 NM_001267550.2(TTN):c.56535G>A (p.Thr18845=) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10 PMID:25741868|PMID:28492532 10051126 CV192957 NM_001267550.2(TTN):c.56535G>A (p.Thr18845=) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:25741868|PMID:28492532 10051126 CV192957 NM_001267550.2(TTN):c.56535G>A (p.Thr18845=) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:25741868|PMID:28492532 10051126 CV192957 NM_001267550.2(TTN):c.56535G>A (p.Thr18845=) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:25741868|PMID:28492532 10051127 CV192958 NM_000334.4(SCN4A):c.4690G>A (p.Val1564Ile) variant DOID:0110682 congenital myasthenic syndrome 16 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome, acetazolamide-responsive PMID:24356988|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32849172 10051127 CV192958 NM_000334.4(SCN4A):c.4690G>A (p.Val1564Ile) variant DOID:0111538 paramyotonia congenita of Von Eulenburg IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Von Eulenburg paramyotonia congenita PMID:24356988|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32849172 10051127 CV192958 NM_000334.4(SCN4A):c.4690G>A (p.Val1564Ile) variant DOID:14451 hyperkalemic periodic paralysis IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Familial hyperkalemic periodic paralysis PMID:24356988|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32849172 10051127 CV192958 NM_000334.4(SCN4A):c.4690G>A (p.Val1564Ile) variant DOID:9001333 Hypokalemic Periodic Paralysis, Type 2 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 2 PMID:24356988|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32849172 10051127 CV192958 NM_000334.4(SCN4A):c.4690G>A (p.Val1564Ile) variant DOID:9005884 Potassium Aggravated Myotonia IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Myotonia congenita, acetazolamide-responsive PMID:24356988|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32849172 10051128 CV192959 NM_000334.4(SCN4A):c.4434G>A (p.Ser1478=) variant DOID:14451 hyperkalemic periodic paralysis IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hyperkalemic periodic paralysis PMID:26467025|PMID:28492532 10051131 CV192962 NM_201384.3(PLEC):c.2844C>T (p.Pro948=) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy PMID:26467025|PMID:28492532 10051132 CV192963 NM_201384.3(PLEC):c.2748C>T (p.Thr916=) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy PMID:28492532 10051133 CV192964 NM_020779.4(WDR35):c.2777A>G (p.Tyr926Cys) variant DOID:0080804 cranioectodermal dysplasia 2 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: WDR35-related disorder PMID:28492532 10051133 CV192964 NM_020779.4(WDR35):c.2777A>G (p.Tyr926Cys) variant DOID:0110090 short-rib thoracic dysplasia 7 with or without polydactyly IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 7 with or without polydactyly PMID:28492532 10051136 CV192967 NM_001130438.3(SPTAN1):c.3414+4T>C variant DOID:0080438 developmental and epileptic encephalopathy 5 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 5 PMID:25741868 10051138 CV192969 NM_001369.3(DNAH5):c.3734G>A (p.Arg1245His) variant DOID:0110599 primary ciliary dyskinesia 3 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 3 PMID:28492532 10051138 CV192969 NM_001369.3(DNAH5):c.3734G>A (p.Arg1245His) variant DOID:9562 primary ciliary dyskinesia IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 10051139 CV192970 NM_001369.3(DNAH5):c.3775G>A (p.Ala1259Thr) variant DOID:9562 primary ciliary dyskinesia IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:25741868|PMID:28492532 10051140 CV192972 NM_001845.6(COL4A1):c.1466-6C>T variant DOID:0060263 porencephaly IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: PORENCEPHALY, TYPE 1, AUTOSOMAL DOMINANT PMID:28492532 10051140 CV192972 NM_001845.6(COL4A1):c.1466-6C>T variant DOID:0090125 brain small vessel disease 1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Brain small vessel disease with hemorrhage PMID:28492532 10051140 CV192972 NM_001845.6(COL4A1):c.1466-6C>T variant DOID:9003529 Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps PMID:28492532 10051141 CV192973 NM_001848.3(COL6A1):c.1611C>A (p.Asn537Lys) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:28492532 10051143 CV192976 NM_001365536.1(SCN9A):c.4356C>T (p.Phe1452=) variant DOID:0070155 hereditary sensory and autonomic neuropathy type 2A IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIA PMID:28492532 10051144 CV192977 NM_001365536.1(SCN9A):c.4314C>T (p.Val1438=) variant DOID:0050548 hereditary sensory neuropathy IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE PMID:25741868|PMID:28492532 10051144 CV192977 NM_001365536.1(SCN9A):c.4314C>T (p.Val1438=) variant DOID:0070155 hereditary sensory and autonomic neuropathy type 2A IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIA PMID:25741868|PMID:28492532 10051144 CV192977 NM_001365536.1(SCN9A):c.4314C>T (p.Val1438=) variant DOID:0111295 generalized epilepsy with febrile seizures plus 7 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: GEFS+, TYPE 7 PMID:25741868|PMID:28492532 10051144 CV192977 NM_001365536.1(SCN9A):c.4314C>T (p.Val1438=) variant DOID:0111537 paroxysmal extreme pain disorder IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: RECTAL PAIN, FAMILIAL PMID:25741868|PMID:28492532 10051144 CV192977 NM_001365536.1(SCN9A):c.4314C>T (p.Val1438=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10051144 CV192977 NM_001365536.1(SCN9A):c.4314C>T (p.Val1438=) variant DOID:9008324 Congenital Indifference to Pain, Autosomal Recessive IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Indifference to pain, congenital, autosomal recessive PMID:25741868|PMID:28492532 10051144 CV192977 NM_001365536.1(SCN9A):c.4314C>T (p.Val1438=) variant DOID:9008482 Congenital Pain Insensitivity IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Insensitivity to pain, channelopathy-associated PMID:25741868|PMID:28492532 10051144 CV192977 NM_001365536.1(SCN9A):c.4314C>T (p.Val1438=) variant DOID:9240 erythromelalgia IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Inherited Erythromelalgia PMID:25741868|PMID:28492532 10051146 CV192979 NM_004006.3(DMD):c.3269A>T (p.Gln1090Leu) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:25741868|PMID:28492532 10051146 CV192979 NM_004006.3(DMD):c.3269A>T (p.Gln1090Leu) variant DOID:11723 Duchenne muscular dystrophy IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:25741868|PMID:28492532 10051146 CV192979 NM_004006.3(DMD):c.3269A>T (p.Gln1090Leu) variant DOID:9883 Becker muscular dystrophy IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Muscular dystrophy pseudohypertrophic progressive, Becker type PMID:25741868|PMID:28492532 10051147 CV192982 NM_004415.4(DSP):c.7745T>G (p.Phe2582Cys) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:25819062|PMID:28492532 10051147 CV192982 NM_004415.4(DSP):c.7745T>G (p.Phe2582Cys) variant DOID:0070554 palmoplantar keratoderma and woolly hair IAGP D RGD:8554872 20230620 ClinVar ClinVar Annotator: match by term: Skin fragility woolly hair syndrome PMID:25741868|PMID:25819062|PMID:28492532 10051147 CV192982 NM_004415.4(DSP):c.7745T>G (p.Phe2582Cys) variant DOID:0081109 keratosis palmoplantaris striata 2 IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Keratosis palmoplantaris striata II PMID:25741868|PMID:25819062|PMID:28492532 10051147 CV192982 NM_004415.4(DSP):c.7745T>G (p.Phe2582Cys) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Carvajal syndrome PMID:25741868|PMID:25819062|PMID:28492532 10051147 CV192982 NM_004415.4(DSP):c.7745T>G (p.Phe2582Cys) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 8 PMID:25741868|PMID:25819062|PMID:28492532 10051147 CV192982 NM_004415.4(DSP):c.7745T>G (p.Phe2582Cys) variant DOID:9002630 Epidermolysis Bullosa, Lethal Acantholytic IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Lethal acantholytic epidermolysis bullosa PMID:25741868|PMID:25819062|PMID:28492532 10051147 CV192982 NM_004415.4(DSP):c.7745T>G (p.Phe2582Cys) variant DOID:9004026 Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis PMID:25741868|PMID:25819062|PMID:28492532 10051148 CV192983 NM_001164508.2(NEB):c.2283C>T (p.Ala761=) variant DOID:0110928 nemaline myopathy 2 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 2 PMID:28492532 10051149 CV192984 NM_005045.4(RELN):c.3190G>A (p.Ala1064Thr) variant DOID:0060902 Norman-Roberts syndrome IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Norman-Roberts syndrome PMID:28492532 10051151 CV192987 NM_005559.4(LAMA1):c.3391G>A (p.Glu1131Lys) variant DOID:9008073 PORETTI-BOLTSHAUSER SYNDROME IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Poretti-Boltshauser syndrome PMID:25741868|PMID:28492532 10051152 CV192988 NM_001199397.3(NEK1):c.2251C>G (p.Gln751Glu) variant DOID:0110092 short-rib thoracic dysplasia 6 with or without polydactyly IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly PMID:28492532 10051152 CV192988 NM_001199397.3(NEK1):c.2251C>G (p.Gln751Glu) variant DOID:630 genetic disease IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10051153 CV192989 NM_015102.5(NPHP4):c.3454C>T (p.Pro1152Ser) variant DOID:12712 nephronophthisis IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:25741868|PMID:28492532 10051153 CV192989 NM_015102.5(NPHP4):c.3454C>T (p.Pro1152Ser) variant DOID:1935 Bardet-Biedl syndrome IAGP D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:25741868|PMID:28492532 10051154 CV192990 NM_015192.4(PLCB1):c.2550G>T (p.Glu850Asp) variant DOID:0080459 developmental and epileptic encephalopathy 12 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12 PMID:28492532 10051154 CV192990 NM_015192.4(PLCB1):c.2550G>T (p.Glu850Asp) variant DOID:630 genetic disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10051155 CV192991 NM_015346.4(ZFYVE26):c.4737C>G (p.Ser1579Arg) variant DOID:607 paraplegia IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 10051156 CV192993 NM_001134831.2(AHI1):c.3223G>A (p.Gly1075Arg) variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:25741868|PMID:28492532 10051156 CV192993 NM_001134831.2(AHI1):c.3223G>A (p.Gly1075Arg) variant DOID:0110998 Joubert syndrome 3 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Joubert syndrome 3 PMID:25741868|PMID:28492532 10051156 CV192993 NM_001134831.2(AHI1):c.3223G>A (p.Gly1075Arg) variant DOID:630 genetic disease IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10051157 CV192994 NM_152564.5(VPS13B):c.3516A>G (p.Thr1172=) variant DOID:0111590 Cohen syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Pepper syndrome PMID:25741868|PMID:28492532 10051157 CV192994 NM_152564.5(VPS13B):c.3516A>G (p.Thr1172=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10051157 CV192994 NM_152564.5(VPS13B):c.3516A>G (p.Thr1172=) variant DOID:9001162 Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness PMID:25741868|PMID:28492532 10051158 CV192995 NM_018979.4(WNK1):c.5734A>C (p.Ile1912Leu) variant DOID:0050548 hereditary sensory neuropathy IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hereditary sensory radicular neuropathy, recessive form PMID:25741868|PMID:28492532 10051158 CV192995 NM_018979.4(WNK1):c.5734A>C (p.Ile1912Leu) variant DOID:0070155 hereditary sensory and autonomic neuropathy type 2A IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIA PMID:25741868|PMID:28492532 10051158 CV192995 NM_018979.4(WNK1):c.5734A>C (p.Ile1912Leu) variant DOID:0070161 hereditary sensory and autonomic neuropathy type 2 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type II PMID:25741868|PMID:28492532 10051158 CV192995 NM_018979.4(WNK1):c.5734A>C (p.Ile1912Leu) variant DOID:327 syringomyelia IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Morvan disease PMID:25741868|PMID:28492532 10051158 CV192995 NM_018979.4(WNK1):c.5734A>C (p.Ile1912Leu) variant DOID:4479 pseudohypoaldosteronism IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hyperpotassemia and hypertension familial PMID:25741868|PMID:28492532 10051158 CV192995 NM_018979.4(WNK1):c.5734A>C (p.Ile1912Leu) variant DOID:630 genetic disease IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10051158 CV192995 NM_018979.4(WNK1):c.5734A>C (p.Ile1912Leu) variant DOID:9002890 Pseudohypoaldosteronism, Type IIA IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Gordon hyperkalemia-hypertension syndrome PMID:25741868|PMID:28492532 10051158 CV192995 NM_018979.4(WNK1):c.5734A>C (p.Ile1912Leu) variant DOID:9006034 Pseudohypoaldosteronism, Type IIC IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Pseudohypoaldosteronism type 2C PMID:25741868|PMID:28492532 10051159 CV192996 NM_020366.4(RPGRIP1):c.3749-2A>G variant DOID:0110329 Leber congenital amaurosis 6 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 6 PMID:17576681|PMID:23847139|PMID:25741868|PMID:28492532|PMID:9536098 10051159 CV192996 NM_020366.4(RPGRIP1):c.3749-2A>G variant DOID:0111016 cone-rod dystrophy 13 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 13 PMID:17576681|PMID:23847139|PMID:25741868|PMID:28492532|PMID:9536098 10051160 CV192997 NM_025114.4(CEP290):c.2487A>G (p.Glu829=) variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 10051160 CV192997 NM_025114.4(CEP290):c.2487A>G (p.Glu829=) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532 10051161 CV192999 NM_001267550.2(TTN):c.3988C>T (p.Arg1330Cys) variant DOID:0060674 catecholaminergic polymorphic ventricular tachycardia IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868 10051161 CV192999 NM_001267550.2(TTN):c.3988C>T (p.Arg1330Cys) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:25741868 10051163 CV193001 NM_001267550.2(TTN):c.56850G>A (p.Val18950=) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10 PMID:28492532 10051163 CV193001 NM_001267550.2(TTN):c.56850G>A (p.Val18950=) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:28492532 10051165 CV193003 NM_001267550.2(TTN):c.57593A>G (p.Asn19198Ser) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:25741868|PMID:26467025|PMID:28492532 10051166 CV193004 NM_001267550.2(TTN):c.58363G>A (p.Gly19455Ser) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29590070|PMID:30847666|PMID:33432171|PMID:35026164 10051166 CV193004 NM_001267550.2(TTN):c.58363G>A (p.Gly19455Ser) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Salih Myopathy PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29590070|PMID:30847666|PMID:33432171|PMID:35026164 10051166 CV193004 NM_001267550.2(TTN):c.58363G>A (p.Gly19455Ser) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10 PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29590070|PMID:30847666|PMID:33432171|PMID:35026164 10051166 CV193004 NM_001267550.2(TTN):c.58363G>A (p.Gly19455Ser) variant DOID:0110315 hypertrophic cardiomyopathy 9 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 9 PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29590070|PMID:30847666|PMID:33432171|PMID:35026164 10051166 CV193004 NM_001267550.2(TTN):c.58363G>A (p.Gly19455Ser) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29590070|PMID:30847666|PMID:33432171|PMID:35026164 10051166 CV193004 NM_001267550.2(TTN):c.58363G>A (p.Gly19455Ser) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29590070|PMID:30847666|PMID:33432171|PMID:35026164 10051166 CV193004 NM_001267550.2(TTN):c.58363G>A (p.Gly19455Ser) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29590070|PMID:30847666|PMID:33432171|PMID:35026164 10051167 CV193005 NM_001267550.2(TTN):c.58295G>A (p.Arg19432His) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:28492532 10051168 CV193006 NM_001267550.2(TTN):c.59316G>A (p.Pro19772=) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10051168 CV193006 NM_001267550.2(TTN):c.59316G>A (p.Pro19772=) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10 PMID:25741868|PMID:28492532 10051168 CV193006 NM_001267550.2(TTN):c.59316G>A (p.Pro19772=) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:25741868|PMID:28492532 10051170 CV193009 NM_000138.5(FBN1):c.2930T>G (p.Met977Arg) variant DOID:0111150 autosomal dominant isolated ectopia lentis 1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ectopia lentis, isolated, autosomal dominant PMID:25652356|PMID:25741868|PMID:28492532|PMID:29768367 10051170 CV193009 NM_000138.5(FBN1):c.2930T>G (p.Met977Arg) variant DOID:0111243 acromicric dysplasia IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Acromicric skeletal dysplasia PMID:25652356|PMID:25741868|PMID:28492532|PMID:29768367 10051170 CV193009 NM_000138.5(FBN1):c.2930T>G (p.Met977Arg) variant DOID:0111561 stiff skin syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Stiff skin syndrome PMID:25652356|PMID:25741868|PMID:28492532|PMID:29768367 10051170 CV193009 NM_000138.5(FBN1):c.2930T>G (p.Met977Arg) variant DOID:0111726 geleophysic dysplasia 2 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Geleophysic dysplasia 2 PMID:25652356|PMID:25741868|PMID:28492532|PMID:29768367 10051170 CV193009 NM_000138.5(FBN1):c.2930T>G (p.Met977Arg) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25652356|PMID:25741868|PMID:28492532|PMID:29768367 10051170 CV193009 NM_000138.5(FBN1):c.2930T>G (p.Met977Arg) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25652356|PMID:25741868|PMID:28492532|PMID:29768367 10051170 CV193009 NM_000138.5(FBN1):c.2930T>G (p.Met977Arg) variant DOID:9001464 Weill-Marchesani Syndrome 2 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Weill-Marchesani syndrome 2 PMID:25652356|PMID:25741868|PMID:28492532|PMID:29768367 10051170 CV193009 NM_000138.5(FBN1):c.2930T>G (p.Met977Arg) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Marfanoid hypermobility syndrome PMID:25652356|PMID:25741868|PMID:28492532|PMID:29768367 10051170 CV193009 NM_000138.5(FBN1):c.2930T>G (p.Met977Arg) variant DOID:9005492 Marfan Lipodystrophy Syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME PMID:25652356|PMID:25741868|PMID:28492532|PMID:29768367 10051170 CV193009 NM_000138.5(FBN1):c.2930T>G (p.Met977Arg) variant DOID:9007706 MASS Syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Overlap connective tissue disease PMID:25652356|PMID:25741868|PMID:28492532|PMID:29768367 10051171 CV193011 NM_000256.3(MYBPC3):c.2458C>T (p.Arg820Trp) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:12628722|PMID:17521870|PMID:20542340|PMID:22112859|PMID:22267749|PMID:24906243|PMID:25281569|PMID:25741868|PMID:26776584|PMID:28492532|PMID:28771489|PMID:32731933|PMID:33386538|PMID:33407484|PMID:33561224|PMID:33782553|PMID:34310159|PMID:34400558|PMID:35653365 10051171 CV193011 NM_000256.3(MYBPC3):c.2458C>T (p.Arg820Trp) variant DOID:0110310 hypertrophic cardiomyopathy 4 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4 PMID:12628722|PMID:17521870|PMID:20542340|PMID:22112859|PMID:22267749|PMID:24906243|PMID:25281569|PMID:25741868|PMID:26776584|PMID:28492532|PMID:28771489|PMID:32731933|PMID:33386538|PMID:33407484|PMID:33561224|PMID:33782553|PMID:34310159|PMID:34400558|PMID:35653365 10051171 CV193011 NM_000256.3(MYBPC3):c.2458C>T (p.Arg820Trp) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:12628722|PMID:17521870|PMID:20542340|PMID:22112859|PMID:22267749|PMID:24906243|PMID:25281569|PMID:25741868|PMID:26776584|PMID:28492532|PMID:28771489|PMID:32731933|PMID:33386538|PMID:33407484|PMID:33561224|PMID:33782553|PMID:34310159|PMID:34400558|PMID:35653365 10051172 CV193013 NM_000426.4(LAMA2):c.3645A>G (p.Pro1215=) variant DOID:0110636 congenital merosin-deficient muscular dystrophy 1A IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Laminin alpha 2-related dystrophy PMID:28492532 10051173 CV193014 NM_000426.4(LAMA2):c.3585A>G (p.Leu1195=) variant DOID:0110636 congenital merosin-deficient muscular dystrophy 1A IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Laminin alpha 2-related dystrophy PMID:28492532 10051173 CV193014 NM_000426.4(LAMA2):c.3585A>G (p.Leu1195=) variant DOID:9007352 Congenital Muscular Dystrophy due to Partial LAMA2 Deficiency IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy due to partial LAMA2 deficiency PMID:28492532 10051174 CV193015 NM_000443.4(ABCB4):c.3230C>T (p.Thr1077Met) variant DOID:0070229 intrahepatic cholestasis of pregnancy 3 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Cholestasis, intrahepatic, of pregnancy, 3 PMID:28492532|PMID:32581362|PMID:34016879|PMID:35535055|PMID:36550572 10051176 CV193017 NM_201384.3(PLEC):c.2961C>T (p.Ser987=) variant DOID:0060733 junctional epidermolysis bullosa with pyloric atresia IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5B, WITH PYLORIC ATRESIA PMID:25741868|PMID:26467025|PMID:28492532 10051176 CV193017 NM_201384.3(PLEC):c.2961C>T (p.Ser987=) variant DOID:0060736 epidermolysis bullosa simplex Ogna type IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Ogna type PMID:25741868|PMID:26467025|PMID:28492532 10051176 CV193017 NM_201384.3(PLEC):c.2961C>T (p.Ser987=) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:25741868|PMID:26467025|PMID:28492532 10051176 CV193017 NM_201384.3(PLEC):c.2961C>T (p.Ser987=) variant DOID:0110285 autosomal recessive limb-girdle muscular dystrophy type 2Q IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2Q PMID:25741868|PMID:26467025|PMID:28492532 10051176 CV193017 NM_201384.3(PLEC):c.2961C>T (p.Ser987=) variant DOID:9001254 Epidermolysis Bullosa Simplex 5D with Nail Dystrophy IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy PMID:25741868|PMID:26467025|PMID:28492532 10051176 CV193017 NM_201384.3(PLEC):c.2961C>T (p.Ser987=) variant DOID:9003881 Epidermolysis Bullosa Simplex 5C with Pyloric Atresia IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with pyloric atresia PMID:25741868|PMID:26467025|PMID:28492532 10051177 CV193019 NM_000492.4(CFTR):c.3964-16T>C variant DOID:1485 cystic fibrosis IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cystic fibrosis PMID:28492532 10051178 CV193021 NM_000553.6(WRN):c.3091G>C (p.Val1031Leu) variant DOID:5688 Werner syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Werner syndrome PMID:28492532 10051178 CV193021 NM_000553.6(WRN):c.3091G>C (p.Val1031Leu) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10051179 CV193022 NM_000642.3(AGL):c.3362+9G>A variant DOID:2748 glycogen storage disease III IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Glycogen storage disease type III PMID:25741868|PMID:28492532 10051180 CV193023 NM_001083961.2(WDR62):c.2976G>A (p.Ser992=) variant DOID:0070293 primary autosomal recessive microcephaly 2 with or without cortical malformations IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Primary autosomal recessive microcephaly 2 PMID:25741868|PMID:28492532 10051181 CV193024 NM_001165963.4(SCN1A):c.4582A>G (p.Asn1528Asp) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 10051182 CV193025 NM_001170629.2(CHD8):c.4921+5G>A variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10051182 CV193025 NM_001170629.2(CHD8):c.4921+5G>A variant DOID:9000443 Intellectual Developmental Disorder with Autism and Macrocephaly IAGP D RGD:8554872 20220517 ClinVar ClinVar Annotator: match by term: Autism, susceptibility to, 18 PMID:25741868|PMID:28492532 10051183 CV193026 NM_001297.5(CNGB1):c.2370-9C>T variant DOID:0110402 retinitis pigmentosa 45 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 45 PMID:28492532 10051183 CV193026 NM_001297.5(CNGB1):c.2370-9C>T variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532 10051184 CV193029 NM_001845.6(COL4A1):c.1588C>T (p.Pro530Ser) variant DOID:0060263 porencephaly IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: PORENCEPHALY, TYPE 1, AUTOSOMAL DOMINANT PMID:25741868|PMID:28492532 10051184 CV193029 NM_001845.6(COL4A1):c.1588C>T (p.Pro530Ser) variant DOID:0090125 brain small vessel disease 1 IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: LEUKOENCEPHALOPATHY WITH AXENFELD-RIEGER ANOMALY PMID:25741868|PMID:28492532 10051184 CV193029 NM_001845.6(COL4A1):c.1588C>T (p.Pro530Ser) variant DOID:0111547 retinal arterial tortuosity IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: RETINAL HEMORRHAGE WITH VASCULAR TORTUOSITY PMID:25741868|PMID:28492532 10051184 CV193029 NM_001845.6(COL4A1):c.1588C>T (p.Pro530Ser) variant DOID:630 genetic disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10051184 CV193029 NM_001845.6(COL4A1):c.1588C>T (p.Pro530Ser) variant DOID:9002676 Cerebral Hemorrhage IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Intracerebral hemorrhage PMID:25741868|PMID:28492532 10051184 CV193029 NM_001845.6(COL4A1):c.1588C>T (p.Pro530Ser) variant DOID:9003529 Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps PMID:25741868|PMID:28492532 10051184 CV193029 NM_001845.6(COL4A1):c.1588C>T (p.Pro530Ser) variant DOID:9006637 Schizencephaly IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: SCHIZENCEPHALY PMID:25741868|PMID:28492532 10051185 CV193031 NM_001849.4(COL6A2):c.1932G>A (p.Arg644=) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:28492532 10051187 CV193036 NM_001161352.2(KCNMA1):c.3342+10C>T variant DOID:0070442 paroxysmal nonkinesigenic dyskinesia 3 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy PMID:28492532 10051189 CV193039 NM_004006.3(DMD):c.3344T>C (p.Ile1115Thr) variant DOID:11723 Duchenne muscular dystrophy IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:25741868|PMID:28492532 10051189 CV193039 NM_004006.3(DMD):c.3344T>C (p.Ile1115Thr) variant DOID:9883 Becker muscular dystrophy IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Becker muscular dystrophy PMID:25741868|PMID:28492532 10051190 CV193040 NM_004187.5(KDM5C):c.4304G>A (p.Arg1435His) variant DOID:0060809 syndromic X-linked intellectual disability Claes-Jensen type IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Claes-Jensen type PMID:25741868|PMID:28492532 10051190 CV193040 NM_004187.5(KDM5C):c.4304G>A (p.Arg1435His) variant DOID:607 paraplegia IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:25741868|PMID:28492532 10051191 CV193041 NM_004380.3(CREBBP):c.4279A>G (p.Arg1427Gly) variant DOID:1933 Rubinstein-Taybi syndrome IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 PMID:25741868 10051193 CV193045 NM_006059.4(LAMC3):c.4092C>T (p.Ser1364=) variant DOID:9003313 Occipital Cortical Malformations IAGP D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: LAMC3-related condition PMID:25741868|PMID:28492532 10051194 CV193049 NM_006662.3(SRCAP):c.4355C>T (p.Ser1452Leu) variant DOID:0111358 Floating-Harbor syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Floating-Harbor syndrome PMID:25741868 10051194 CV193049 NM_006662.3(SRCAP):c.4355C>T (p.Ser1452Leu) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 10051194 CV193049 NM_006662.3(SRCAP):c.4355C>T (p.Ser1452Leu) variant DOID:9004230 DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES PMID:25741868 10051197 CV193053 NM_014714.4(IFT140):c.3210G>A (p.Ala1070=) variant DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia PMID:28492532 10051199 CV193058 NM_017534.6(MYH2):c.3181C>G (p.Leu1061Val) variant DOID:0080719 congenital myopathy 6 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia PMID:15741996|PMID:20418530|PMID:22349865|PMID:26467025|PMID:28492532 10051200 CV193059 NM_017534.6(MYH2):c.3127T>G (p.Ser1043Ala) variant DOID:0080719 congenital myopathy 6 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia PMID:25741868|PMID:28492532 10051201 CV193060 NM_017780.4(CHD7):c.5310T>C (p.Asp1770=) variant DOID:0050834 CHARGE syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: CHARGE association PMID:28492532 10051201 CV193060 NM_017780.4(CHD7):c.5310T>C (p.Asp1770=) variant DOID:630 genetic disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10051201 CV193060 NM_017780.4(CHD7):c.5310T>C (p.Asp1770=) variant DOID:9004226 Hittner Hirsch Kreh Syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome PMID:28492532 10051202 CV193061 NM_152564.5(VPS13B):c.3811A>T (p.Thr1271Ser) variant DOID:0111590 Cohen syndrome IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30792901 10051202 CV193061 NM_152564.5(VPS13B):c.3811A>T (p.Thr1271Ser) variant DOID:630 genetic disease IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30792901 10051203 CV193062 NM_152564.5(VPS13B):c.3690T>C (p.Thr1230=) variant DOID:0111590 Cohen syndrome IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 10051203 CV193062 NM_152564.5(VPS13B):c.3690T>C (p.Thr1230=) variant DOID:9001162 Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness PMID:28492532 10051205 CV193064 NM_001291415.2(KDM6A):c.3834T>C (p.His1278=) variant DOID:9007875 Kabuki Syndrome 2 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 2 PMID:25741868|PMID:28492532 10051206 CV193065 NM_001384732.1(CPLANE1):c.4388C>T (p.Thr1463Ile) variant DOID:0060376 Joubert syndrome with orofaciodigital defect IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Oral-facial-digital syndrome type 6 PMID:25741868|PMID:28492532|PMID:28518168|PMID:32461654 10051206 CV193065 NM_001384732.1(CPLANE1):c.4388C>T (p.Thr1463Ile) variant DOID:0110986 Joubert Syndrome 17 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Joubert syndrome 17 PMID:25741868|PMID:28492532|PMID:28518168|PMID:32461654 10051206 CV193065 NM_001384732.1(CPLANE1):c.4388C>T (p.Thr1463Ile) variant DOID:630 genetic disease IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:28518168|PMID:32461654 10051207 CV193067 NM_024408.4(NOTCH2):c.4041A>G (p.Gly1347=) variant DOID:2736 Hajdu-Cheney syndrome IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hajdu-Cheney syndrome PMID:28492532 10051208 CV193069 NM_024753.5(TTC21B):c.3264-3C>G variant DOID:0050592 asphyxiating thoracic dystrophy IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:17576681|PMID:21258341|PMID:25741868|PMID:28492532|PMID:9536098 10051208 CV193069 NM_024753.5(TTC21B):c.3264-3C>G variant DOID:0110088 asphyxiating thoracic dystrophy 4 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 4 PMID:17576681|PMID:21258341|PMID:25741868|PMID:28492532|PMID:9536098 10051208 CV193069 NM_024753.5(TTC21B):c.3264-3C>G variant DOID:0111119 nephronophthisis 12 IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Nephronophthisis 12 PMID:17576681|PMID:21258341|PMID:25741868|PMID:28492532|PMID:9536098 10051209 CV193070 NM_080680.3(COL11A2):c.2017-5T>G variant DOID:65 connective tissue disease IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:24033266|PMID:25741868|PMID:28492532 10051210 CV193071 NM_001267550.2(TTN):c.4362A>G (p.Leu1454=) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10 PMID:28492532 10051210 CV193071 NM_001267550.2(TTN):c.4362A>G (p.Leu1454=) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:28492532 10051211 CV193072 NM_138694.4(PKHD1):c.2715+7del variant DOID:0110861 autosomal recessive polycystic kidney disease IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT HEPATIC DISEASE PMID:28492532 10051213 CV193075 NM_182914.3(SYNE2):c.3235A>G (p.Thr1079Ala) variant DOID:0070250 autosomal dominant Emery-Dreifuss muscular dystrophy 5 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 5, autosomal dominant PMID:28492532 10051214 CV193076 NM_201384.3(PLEC):c.3171G>A (p.Ser1057=) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy PMID:26467025|PMID:28492532 10051215 CV193078 NM_001267550.2(TTN):c.59359A>C (p.Ile19787Leu) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:25741868|PMID:28492532 10051215 CV193078 NM_001267550.2(TTN):c.59359A>C (p.Ile19787Leu) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:25741868|PMID:28492532 10051216 CV193079 NM_001267550.2(TTN):c.60342C>T (p.Thr20114=) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:28492532 10051216 CV193079 NM_001267550.2(TTN):c.60342C>T (p.Thr20114=) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:28492532 10051217 CV193080 NM_001267550.2(TTN):c.61366G>A (p.Gly20456Ser) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 10051217 CV193080 NM_001267550.2(TTN):c.61366G>A (p.Gly20456Ser) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:24033266|PMID:25741868|PMID:28492532 10051217 CV193080 NM_001267550.2(TTN):c.61366G>A (p.Gly20456Ser) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:24033266|PMID:25741868|PMID:28492532 10051218 CV193082 NM_001267550.2(TTN):c.62280T>C (p.Val20760=) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: CONGENITAL MYOPATHY 5 WITH CARDIOMYOPATHY PMID:25741868|PMID:28492532 10051218 CV193082 NM_001267550.2(TTN):c.62280T>C (p.Val20760=) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10 PMID:25741868|PMID:28492532 10051218 CV193082 NM_001267550.2(TTN):c.62280T>C (p.Val20760=) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:25741868|PMID:28492532 10051218 CV193082 NM_001267550.2(TTN):c.62280T>C (p.Val20760=) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:25741868|PMID:28492532 10051218 CV193082 NM_001267550.2(TTN):c.62280T>C (p.Val20760=) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT PMID:25741868|PMID:28492532 10051220 CV193084 NM_001267550.2(TTN):c.63273T>C (p.Asp21091=) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10051220 CV193084 NM_001267550.2(TTN):c.63273T>C (p.Asp21091=) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Myopathy, early-onset, with fatal cardiomyopathy PMID:25741868|PMID:28492532 10051220 CV193084 NM_001267550.2(TTN):c.63273T>C (p.Asp21091=) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2J PMID:25741868|PMID:28492532 10051220 CV193084 NM_001267550.2(TTN):c.63273T>C (p.Asp21091=) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:25741868|PMID:28492532 10051220 CV193084 NM_001267550.2(TTN):c.63273T>C (p.Asp21091=) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:25741868|PMID:28492532 10051220 CV193084 NM_001267550.2(TTN):c.63273T>C (p.Asp21091=) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:25741868|PMID:28492532 10051222 CV193086 NM_001267550.2(TTN):c.64338T>C (p.Ala21446=) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10051222 CV193086 NM_001267550.2(TTN):c.64338T>C (p.Ala21446=) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10 PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10051222 CV193086 NM_001267550.2(TTN):c.64338T>C (p.Ala21446=) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10051223 CV193087 NM_000214.3(JAG1):c.3308C>T (p.Thr1103Ile) variant DOID:6419 tetralogy of Fallot IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Fallot tetralogy PMID:25741868|PMID:28492532 10051223 CV193087 NM_000214.3(JAG1):c.3308C>T (p.Thr1103Ile) variant DOID:9002114 Charcot-Marie-Tooth Disease Axonal Type 2HH IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, Type 2HH PMID:25741868|PMID:28492532 10051223 CV193087 NM_000214.3(JAG1):c.3308C>T (p.Thr1103Ile) variant DOID:9003698 ALAGILLE SYNDROME 1 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Alagille syndrome 1 PMID:25741868|PMID:28492532 10051223 CV193087 NM_000214.3(JAG1):c.3308C>T (p.Thr1103Ile) variant DOID:9008743 Deafness, Congenital Heart Defects, and Posterior Embryotoxon IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Deafness, congenital heart defects, and posterior embryotoxon PMID:25741868|PMID:28492532 10051223 CV193087 NM_000214.3(JAG1):c.3308C>T (p.Thr1103Ile) variant DOID:9245 Alagille syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC PMID:25741868|PMID:28492532 10051224 CV193089 NM_000257.4(MYH7):c.3667G>A (p.Glu1223Lys) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:25741868|PMID:28492532|PMID:29892087|PMID:31737537 10051224 CV193089 NM_000257.4(MYH7):c.3667G>A (p.Glu1223Lys) variant DOID:0060253 scapuloperoneal myopathy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: MYH7-related late-onset scapuloperoneal muscular dystrophy PMID:25741868|PMID:28492532|PMID:29892087|PMID:31737537 10051224 CV193089 NM_000257.4(MYH7):c.3667G>A (p.Glu1223Lys) variant DOID:0061012 craniosynostosis 4 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Craniosynostosis 4 PMID:25741868|PMID:28492532|PMID:29892087|PMID:31737537 10051224 CV193089 NM_000257.4(MYH7):c.3667G>A (p.Glu1223Lys) variant DOID:0111267 hyaline body myopathy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Myosin storage myopathy PMID:25741868|PMID:28492532|PMID:29892087|PMID:31737537 10051224 CV193089 NM_000257.4(MYH7):c.3667G>A (p.Glu1223Lys) variant DOID:0111269 autosomal dominant hyaline body myopathy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Congenital myopathy 7A, myosin storage, autosomal dominant PMID:25741868|PMID:28492532|PMID:29892087|PMID:31737537 10051224 CV193089 NM_000257.4(MYH7):c.3667G>A (p.Glu1223Lys) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532|PMID:29892087|PMID:31737537 10051224 CV193089 NM_000257.4(MYH7):c.3667G>A (p.Glu1223Lys) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:28492532|PMID:29892087|PMID:31737537 10051224 CV193089 NM_000257.4(MYH7):c.3667G>A (p.Glu1223Lys) variant DOID:2340 craniosynostosis IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lambdoid synostosis PMID:25741868|PMID:28492532|PMID:29892087|PMID:31737537 10051225 CV193090 NM_000293.3(PHKB):c.2445T>C (p.Phe815=) variant DOID:0111041 glycogen storage disease IXB IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXb PMID:28492532 10051226 CV193091 NM_201384.3(PLEC):c.3210G>A (p.Thr1070=) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:25741868|PMID:28492532 10051227 CV193093 NM_000719.7(CACNA1C):c.3234C>T (p.Asp1078=) variant DOID:0060173 Timothy syndrome IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Long QT syndrome with syndactyly PMID:25741868|PMID:28492532 10051227 CV193093 NM_000719.7(CACNA1C):c.3234C>T (p.Asp1078=) variant DOID:0070536 neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures PMID:25741868|PMID:28492532 10051227 CV193093 NM_000719.7(CACNA1C):c.3234C>T (p.Asp1078=) variant DOID:0110220 Brugada syndrome 3 IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Brugada syndrome 3 PMID:25741868|PMID:28492532 10051227 CV193093 NM_000719.7(CACNA1C):c.3234C>T (p.Asp1078=) variant DOID:0110649 long QT syndrome 8 IAGP D RGD:8554872 20240305 ClinVar ClinVar Annotator: match by term: Long qt syndrome 8 PMID:25741868|PMID:28492532 10051227 CV193093 NM_000719.7(CACNA1C):c.3234C>T (p.Asp1078=) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10051229 CV193095 NM_001099922.3(ALG13):c.2975G>A (p.Cys992Tyr) variant DOID:0080470 developmental and epileptic encephalopathy 36 IAGP D RGD:8554872 20250812 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 36 PMID:25741868|PMID:26467025|PMID:28492532 10051230 CV193096 NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met) variant DOID:0050956 spinocerebellar ataxia 6 IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia type 6 PMID:22249839|PMID:25741868|PMID:27959697|PMID:28007337|PMID:28492532|PMID:29056246|PMID:29100083|PMID:30283815|PMID:31468518|PMID:31487502 10051230 CV193096 NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met) variant DOID:0050990 episodic ataxia type 2 IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:22249839|PMID:25741868|PMID:27959697|PMID:28007337|PMID:28492532|PMID:29056246|PMID:29100083|PMID:30283815|PMID:31468518|PMID:31487502 10051230 CV193096 NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met) variant DOID:0080454 developmental and epileptic encephalopathy 42 IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 42 PMID:22249839|PMID:25741868|PMID:27959697|PMID:28007337|PMID:28492532|PMID:29056246|PMID:29100083|PMID:30283815|PMID:31468518|PMID:31487502 10051230 CV193096 NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met) variant DOID:0111181 familial hemiplegic migraine 1 IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Migraine, familial hemiplegic, 1 PMID:22249839|PMID:25741868|PMID:27959697|PMID:28007337|PMID:28492532|PMID:29056246|PMID:29100083|PMID:30283815|PMID:31468518|PMID:31487502 10051230 CV193096 NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met) variant DOID:630 genetic disease IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22249839|PMID:25741868|PMID:27959697|PMID:28007337|PMID:28492532|PMID:29056246|PMID:29100083|PMID:30283815|PMID:31468518|PMID:31487502 10051230 CV193096 NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met) variant DOID:6364 migraine IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Migraine PMID:22249839|PMID:25741868|PMID:27959697|PMID:28007337|PMID:28492532|PMID:29056246|PMID:29100083|PMID:30283815|PMID:31468518|PMID:31487502 10051231 CV193099 NM_001142800.2(EYS):c.4402G>C (p.Asp1468His) variant DOID:0110384 retinitis pigmentosa 25 IAGP D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 25 PMID:25097241|PMID:25741868|PMID:26667666|PMID:28492532|PMID:29550188|PMID:34906470 10051231 CV193099 NM_001142800.2(EYS):c.4402G>C (p.Asp1468His) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25097241|PMID:25741868|PMID:26667666|PMID:28492532|PMID:29550188|PMID:34906470 10051231 CV193099 NM_001142800.2(EYS):c.4402G>C (p.Asp1468His) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25097241|PMID:25741868|PMID:26667666|PMID:28492532|PMID:29550188|PMID:34906470 10051232 CV193100 NM_001142800.2(EYS):c.5644+5G>A variant DOID:0110384 retinitis pigmentosa 25 IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 25 PMID:17576681|PMID:25741868|PMID:28492532|PMID:29641573|PMID:31960602|PMID:32218477|PMID:34178978|PMID:9536098 10051232 CV193100 NM_001142800.2(EYS):c.5644+5G>A variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:17576681|PMID:25741868|PMID:28492532|PMID:29641573|PMID:31960602|PMID:32218477|PMID:34178978|PMID:9536098 10051234 CV193102 NM_001165963.4(SCN1A):c.5433T>C (p.Val1811=) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 10051235 CV193103 NM_001165963.4(SCN1A):c.4945C>T (p.Leu1649=) variant DOID:0111183 familial hemiplegic migraine 3 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Migraine, familial hemiplegic, 3 PMID:20729507|PMID:25741868|PMID:26467025|PMID:28492532 10051235 CV193103 NM_001165963.4(SCN1A):c.4945C>T (p.Leu1649=) variant DOID:0111294 generalized epilepsy with febrile seizures plus 2 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 2 PMID:20729507|PMID:25741868|PMID:26467025|PMID:28492532 10051235 CV193103 NM_001165963.4(SCN1A):c.4945C>T (p.Leu1649=) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:20729507|PMID:25741868|PMID:26467025|PMID:28492532 10051235 CV193103 NM_001165963.4(SCN1A):c.4945C>T (p.Leu1649=) variant DOID:1826 epilepsy IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Epilepsy PMID:20729507|PMID:25741868|PMID:26467025|PMID:28492532 10051235 CV193103 NM_001165963.4(SCN1A):c.4945C>T (p.Leu1649=) variant DOID:630 genetic disease IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20729507|PMID:25741868|PMID:26467025|PMID:28492532 10051236 CV193104 NM_001165963.4(SCN1A):c.5286A>G (p.Gly1762=) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:20452746|PMID:25741868|PMID:26467025|PMID:28492532 10051236 CV193104 NM_001165963.4(SCN1A):c.5286A>G (p.Gly1762=) variant DOID:630 genetic disease IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20452746|PMID:25741868|PMID:26467025|PMID:28492532 10051238 CV193106 NM_001165963.4(SCN1A):c.5563C>T (p.Pro1855Ser) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:21248271|PMID:25741868|PMID:28492532|PMID:29056246 10051239 CV193107 NM_001165963.4(SCN1A):c.5335A>G (p.Asn1779Asp) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 10051240 CV193110 NM_001458.5(FLNC):c.4553A>G (p.Lys1518Arg) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10051240 CV193110 NM_001458.5(FLNC):c.4553A>G (p.Lys1518Arg) variant DOID:0080096 myofibrillar myopathy 5 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 5 PMID:25741868|PMID:28492532 10051240 CV193110 NM_001458.5(FLNC):c.4553A>G (p.Lys1518Arg) variant DOID:0110327 hypertrophic cardiomyopathy 26 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 26 PMID:25741868|PMID:28492532 10051240 CV193110 NM_001458.5(FLNC):c.4553A>G (p.Lys1518Arg) variant DOID:0111190 distal myopathy 4 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Distal myopathy with posterior leg and anterior hand involvement PMID:25741868|PMID:28492532 10051240 CV193110 NM_001458.5(FLNC):c.4553A>G (p.Lys1518Arg) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant PMID:25741868|PMID:28492532 10051242 CV193113 NM_001848.3(COL6A1):c.1684A>G (p.Ile562Val) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:25741868|PMID:28492532 10051242 CV193113 NM_001848.3(COL6A1):c.1684A>G (p.Ile562Val) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10051243 CV193114 NM_001849.4(COL6A2):c.2116G>C (p.Ala706Pro) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:28492532 10051244 CV193115 NM_001849.4(COL6A2):c.2098G>A (p.Gly700Ser) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:15689448|PMID:28492532|PMID:32528171 10051245 CV193117 NM_001849.4(COL6A2):c.2192C>T (p.Thr731Met) variant DOID:0060946 Ullrich congenital muscular dystrophy 1A IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1 PMID:24271325|PMID:25741868|PMID:28492532|PMID:32528171|PMID:34167565 10051245 CV193117 NM_001849.4(COL6A2):c.2192C>T (p.Thr731Met) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:24271325|PMID:25741868|PMID:28492532|PMID:32528171|PMID:34167565 10051247 CV193122 NM_001130987.2(DYSF):c.2725G>A (p.Val909Ile) variant DOID:630 genetic disease IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10051249 CV193125 NM_003742.4(ABCB11):c.3556G>A (p.Glu1186Lys) variant DOID:0070222 progressive familial intrahepatic cholestasis 2 IAGP D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2 PMID:19101985|PMID:20010382|PMID:20799350|PMID:25741868|PMID:28492532 10051251 CV193130 NM_004187.5(KDM5C):c.4338C>T (p.His1446=) variant DOID:607 paraplegia IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 10051252 CV193131 NM_004369.4(COL6A3):c.6749C>T (p.Pro2250Leu) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:25741868|PMID:28492532 10051253 CV193133 NM_001164508.2(NEB):c.2459T>G (p.Phe820Cys) variant DOID:0110928 nemaline myopathy 2 IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 2 PMID:25741868|PMID:28492532 10051253 CV193133 NM_001164508.2(NEB):c.2459T>G (p.Phe820Cys) variant DOID:630 genetic disease IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10051254 CV193135 NM_001378414.1(HDAC4):c.3174C>T (p.Ala1058=) variant DOID:9007607 NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: HDAC4-related condition PMID:28492532 10051255 CV193137 NM_015102.5(NPHP4):c.3575G>A (p.Arg1192Gln) variant DOID:0111115 nephronophthisis 4 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephronophthisis 4 PMID:25741868|PMID:28492532 10051255 CV193137 NM_015102.5(NPHP4):c.3575G>A (p.Arg1192Gln) variant DOID:12712 nephronophthisis IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:25741868|PMID:28492532 10051256 CV193138 NM_015272.5(RPGRIP1L):c.3715G>A (p.Val1239Met) variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:25741868|PMID:28492532 10051256 CV193138 NM_015272.5(RPGRIP1L):c.3715G>A (p.Val1239Met) variant DOID:0111002 Joubert syndrome 7 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Joubert syndrome 7 PMID:25741868|PMID:28492532 10051257 CV193139 NM_017780.4(CHD7):c.5405-17G>A variant DOID:0050834 CHARGE syndrome IAGP D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: CHARGE association PMID:16155193|PMID:18073582|PMID:20884005|PMID:22033296|PMID:22461308|PMID:25741868|PMID:26467025|PMID:26538304|PMID:26544072|PMID:28492532|PMID:29255276|PMID:29304373|PMID:31965297 10051257 CV193139 NM_017780.4(CHD7):c.5405-17G>A variant DOID:0090084 hypogonadotropic hypogonadism 5 with or without anosmia IAGP D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 5 with or without anosmia PMID:16155193|PMID:18073582|PMID:20884005|PMID:22033296|PMID:22461308|PMID:25741868|PMID:26467025|PMID:26538304|PMID:26544072|PMID:28492532|PMID:29255276|PMID:29304373|PMID:31965297 10051257 CV193139 NM_017780.4(CHD7):c.5405-17G>A variant DOID:630 genetic disease IAGP D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16155193|PMID:18073582|PMID:20884005|PMID:22033296|PMID:22461308|PMID:25741868|PMID:26467025|PMID:26538304|PMID:26544072|PMID:28492532|PMID:29255276|PMID:29304373|PMID:31965297 10051261 CV193147 NM_022124.6(CDH23):c.3010G>A (p.Val1004Met) variant DOID:0050439 Usher syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness PMID:28492532 10051261 CV193147 NM_022124.6(CDH23):c.3010G>A (p.Val1004Met) variant DOID:0110826 Usher syndrome type 1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1 PMID:28492532 10051262 CV193148 NM_024408.4(NOTCH2):c.4740G>A (p.Lys1580=) variant DOID:2736 Hajdu-Cheney syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: NOTCH2-related condition PMID:28492532 10051262 CV193148 NM_024408.4(NOTCH2):c.4740G>A (p.Lys1580=) variant DOID:9000812 Acroosteolysis Dominant Type IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Acroosteolysis dominant type PMID:28492532 10051263 CV193150 NM_025114.4(CEP290):c.2980G>A (p.Glu994Lys) variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:25097241|PMID:25741868|PMID:28492532|PMID:29398085|PMID:29970488|PMID:32483926 10051263 CV193150 NM_025114.4(CEP290):c.2980G>A (p.Glu994Lys) variant DOID:0070118 Meckel syndrome 4 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 4 PMID:25097241|PMID:25741868|PMID:28492532|PMID:29398085|PMID:29970488|PMID:32483926 10051263 CV193150 NM_025114.4(CEP290):c.2980G>A (p.Glu994Lys) variant DOID:0110136 Bardet-Biedl syndrome 14 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 14 PMID:25097241|PMID:25741868|PMID:28492532|PMID:29398085|PMID:29970488|PMID:32483926 10051263 CV193150 NM_025114.4(CEP290):c.2980G>A (p.Glu994Lys) variant DOID:0110291 Leber congenital amaurosis 10 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 10 PMID:25097241|PMID:25741868|PMID:28492532|PMID:29398085|PMID:29970488|PMID:32483926 10051263 CV193150 NM_025114.4(CEP290):c.2980G>A (p.Glu994Lys) variant DOID:0111000 Joubert syndrome 5 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Joubert syndrome 5 PMID:25097241|PMID:25741868|PMID:28492532|PMID:29398085|PMID:29970488|PMID:32483926 10051263 CV193150 NM_025114.4(CEP290):c.2980G>A (p.Glu994Lys) variant DOID:14791 Leber congenital amaurosis IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:25097241|PMID:25741868|PMID:28492532|PMID:29398085|PMID:29970488|PMID:32483926 10051263 CV193150 NM_025114.4(CEP290):c.2980G>A (p.Glu994Lys) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25097241|PMID:25741868|PMID:28492532|PMID:29398085|PMID:29970488|PMID:32483926 10051263 CV193150 NM_025114.4(CEP290):c.2980G>A (p.Glu994Lys) variant DOID:9008709 Senior-Loken Syndrome 6 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 6 PMID:25097241|PMID:25741868|PMID:28492532|PMID:29398085|PMID:29970488|PMID:32483926 10051264 CV193151 NM_182961.4(SYNE1):c.3074A>T (p.Asp1025Val) variant DOID:0111618 autosomal recessive spinocerebellar ataxia 8 IAGP D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 PMID:26467025|PMID:28492532 10051265 CV193152 NM_052989.3(IFT122):c.3129C>T (p.Arg1043=) variant DOID:0080803 cranioectodermal dysplasia 1 IAGP D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Cranioectodermal dysplasia 1 PMID:25741868|PMID:28492532 10051265 CV193152 NM_052989.3(IFT122):c.3129C>T (p.Arg1043=) variant DOID:65 connective tissue disease IAGP D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 10051267 CV193154 NM_001267550.2(TTN):c.4645+8G>T variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, early-onset, with fatal cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 10051267 CV193154 NM_001267550.2(TTN):c.4645+8G>T variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2J PMID:24033266|PMID:25741868|PMID:28492532 10051267 CV193154 NM_001267550.2(TTN):c.4645+8G>T variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:24033266|PMID:25741868|PMID:28492532 10051267 CV193154 NM_001267550.2(TTN):c.4645+8G>T variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:24033266|PMID:25741868|PMID:28492532 10051267 CV193154 NM_001267550.2(TTN):c.4645+8G>T variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:24033266|PMID:25741868|PMID:28492532 10051268 CV193155 NM_001379081.2(FREM1):c.4489A>T (p.Ile1497Phe) variant DOID:630 genetic disease IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10051268 CV193155 NM_001379081.2(FREM1):c.4489A>T (p.Ile1497Phe) variant DOID:9000566 Bifid Nose with or without Anorectal and Renal Anomalies IAGP D RGD:8554872 20250729 ClinVar ClinVar Annotator: match by term: BNAR syndrome PMID:25741868|PMID:28492532 10051268 CV193155 NM_001379081.2(FREM1):c.4489A>T (p.Ile1497Phe) variant DOID:9003259 Marles Greenberg Persaud Syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Manitoba Trichoanal syndrome PMID:25741868|PMID:28492532 10051268 CV193155 NM_001379081.2(FREM1):c.4489A>T (p.Ile1497Phe) variant DOID:9005762 Trigonocephaly 2 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Trigonocephaly 2 PMID:25741868|PMID:28492532 10051269 CV193156 NM_153240.5(NPHP3):c.3809T>C (p.Leu1270Pro) variant DOID:12712 nephronophthisis IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:25741868|PMID:28492532 10051269 CV193156 NM_153240.5(NPHP3):c.3809T>C (p.Leu1270Pro) variant DOID:9001991 Renal-Hepatic-Pancreatic Dysplasia 1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Renal-hepatic-pancreatic dysplasia 1 PMID:25741868|PMID:28492532 10051270 CV193157 NM_153240.5(NPHP3):c.3756C>G (p.Ser1252Arg) variant DOID:0070121 Meckel syndrome 7 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Meckel syndrome type 7 PMID:12872122|PMID:28492532 10051270 CV193157 NM_153240.5(NPHP3):c.3756C>G (p.Ser1252Arg) variant DOID:0111112 nephronophthisis 1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:12872122|PMID:28492532 10051270 CV193157 NM_153240.5(NPHP3):c.3756C>G (p.Ser1252Arg) variant DOID:0111114 nephronophthisis 3 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Nephronophthisis 3 PMID:12872122|PMID:28492532 10051270 CV193157 NM_153240.5(NPHP3):c.3756C>G (p.Ser1252Arg) variant DOID:12712 nephronophthisis IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:12872122|PMID:28492532 10051270 CV193157 NM_153240.5(NPHP3):c.3756C>G (p.Ser1252Arg) variant DOID:9001991 Renal-Hepatic-Pancreatic Dysplasia 1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Renal-hepatic-pancreatic dysplasia 1 PMID:12872122|PMID:28492532 10051271 CV193158 NM_206933.4(USH2A):c.5265C>T (p.Phe1755=) variant DOID:0110838 Usher syndrome type 2A IAGP D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Usher syndrome, type 2A PMID:28492532 10051276 CV193163 NM_001267550.2(TTN):c.66187G>C (p.Val22063Leu) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:25741868|PMID:28492532 10051278 CV193165 NM_001267550.2(TTN):c.66650T>G (p.Phe22217Cys) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:25589632|PMID:25741868|PMID:28492532 10051278 CV193165 NM_001267550.2(TTN):c.66650T>G (p.Phe22217Cys) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:25589632|PMID:25741868|PMID:28492532 10051279 CV193166 NM_001267550.2(TTN):c.66601G>A (p.Asp22201Asn) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:25741868|PMID:28492532|PMID:37091313 10051279 CV193166 NM_001267550.2(TTN):c.66601G>A (p.Asp22201Asn) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:25741868|PMID:28492532|PMID:37091313 10051281 CV193169 NM_000257.4(MYH7):c.3779G>C (p.Arg1260Pro) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 10051282 CV193171 NM_001377.3(DYNC2H1):c.4192A>C (p.Arg1398=) variant DOID:0050592 asphyxiating thoracic dystrophy IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Short Rib Polydactyly Syndrome PMID:28492532 10051282 CV193171 NM_001377.3(DYNC2H1):c.4192A>C (p.Arg1398=) variant DOID:0110087 asphyxiating thoracic dystrophy 3 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 3 with or without polydactyly PMID:28492532 10051283 CV193173 NM_001083961.2(WDR62):c.3232G>A (p.Ala1078Thr) variant DOID:0070293 primary autosomal recessive microcephaly 2 with or without cortical malformations IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: WDR62-related condition PMID:20890279 10051284 CV193175 NM_001297.5(CNGB1):c.2656G>A (p.Ala886Thr) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532 10051285 CV193178 NM_001161352.2(KCNMA1):c.3506C>T (p.Thr1169Met) variant DOID:0070442 paroxysmal nonkinesigenic dyskinesia 3 IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy PMID:28492532 10051286 CV193179 NM_001252024.2(TRPM1):c.4499C>T (p.Thr1500Met) variant DOID:0110867 congenital stationary night blindness 1C IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness 1C PMID:25741868|PMID:28492532|PMID:35457050 10051286 CV193179 NM_001252024.2(TRPM1):c.4499C>T (p.Thr1500Met) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532|PMID:35457050 10051287 CV193180 NM_002474.3(MYH11):c.3651+5T>G variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10051287 CV193180 NM_002474.3(MYH11):c.3651+5T>G variant DOID:9000664 Familial Thoracic Aortic Aneurysm 4 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus PMID:25741868|PMID:28492532 10051288 CV193181 NM_001365536.1(SCN9A):c.5779C>T (p.Leu1927Phe) variant DOID:0050548 hereditary sensory neuropathy IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE PMID:25741868|PMID:26467025|PMID:28492532 10051288 CV193181 NM_001365536.1(SCN9A):c.5779C>T (p.Leu1927Phe) variant DOID:0070155 hereditary sensory and autonomic neuropathy type 2A IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIA PMID:25741868|PMID:26467025|PMID:28492532 10051288 CV193181 NM_001365536.1(SCN9A):c.5779C>T (p.Leu1927Phe) variant DOID:0111295 generalized epilepsy with febrile seizures plus 7 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: GEFS+, TYPE 7 PMID:25741868|PMID:26467025|PMID:28492532 10051288 CV193181 NM_001365536.1(SCN9A):c.5779C>T (p.Leu1927Phe) variant DOID:0111537 paroxysmal extreme pain disorder IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: RECTAL PAIN, FAMILIAL PMID:25741868|PMID:26467025|PMID:28492532 10051288 CV193181 NM_001365536.1(SCN9A):c.5779C>T (p.Leu1927Phe) variant DOID:9008324 Congenital Indifference to Pain, Autosomal Recessive IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Indifference to pain, congenital, autosomal recessive PMID:25741868|PMID:26467025|PMID:28492532 10051288 CV193181 NM_001365536.1(SCN9A):c.5779C>T (p.Leu1927Phe) variant DOID:9008482 Congenital Pain Insensitivity IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Insensitivity to pain, channelopathy-associated PMID:25741868|PMID:26467025|PMID:28492532 10051288 CV193181 NM_001365536.1(SCN9A):c.5779C>T (p.Leu1927Phe) variant DOID:9240 erythromelalgia IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Inherited Erythromelalgia PMID:25741868|PMID:26467025|PMID:28492532 10051289 CV193182 NM_001365536.1(SCN9A):c.5235C>A (p.Ile1745=) variant DOID:0070155 hereditary sensory and autonomic neuropathy type 2A IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A PMID:28492532 10051290 CV193183 NM_001130987.2(DYSF):c.2956A>T (p.Met986Leu) variant DOID:0070198 Miyoshi muscular dystrophy IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, distal, late onset, autosomal recessive PMID:18832576|PMID:24239059|PMID:24438169|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30564623 10051290 CV193183 NM_001130987.2(DYSF):c.2956A>T (p.Met986Leu) variant DOID:0070199 Miyoshi muscular dystrophy 1 IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Miyoshi muscular dystrophy 1 PMID:18832576|PMID:24239059|PMID:24438169|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30564623 10051290 CV193183 NM_001130987.2(DYSF):c.2956A>T (p.Met986Leu) variant DOID:0110274 autosomal recessive limb-girdle muscular dystrophy IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive PMID:18832576|PMID:24239059|PMID:24438169|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30564623 10051290 CV193183 NM_001130987.2(DYSF):c.2956A>T (p.Met986Leu) variant DOID:0110276 autosomal recessive limb-girdle muscular dystrophy type 2B IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2B PMID:18832576|PMID:24239059|PMID:24438169|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30564623 10051290 CV193183 NM_001130987.2(DYSF):c.2956A>T (p.Met986Leu) variant DOID:0111187 distal myopathy with anterior tibial onset IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Myopathy, distal, with anterior tibial onset PMID:18832576|PMID:24239059|PMID:24438169|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30564623 10051291 CV193185 NM_004006.3(DMD):c.3696A>C (p.Ala1232=) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:28492532 10051291 CV193185 NM_004006.3(DMD):c.3696A>C (p.Ala1232=) variant DOID:11723 Duchenne muscular dystrophy IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:28492532 10051291 CV193185 NM_004006.3(DMD):c.3696A>C (p.Ala1232=) variant DOID:9883 Becker muscular dystrophy IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Becker muscular dystrophy PMID:28492532 10051292 CV193187 NM_005045.4(RELN):c.3805T>C (p.Phe1269Leu) variant DOID:0060902 Norman-Roberts syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Norman-Roberts syndrome PMID:28492532 10051292 CV193187 NM_005045.4(RELN):c.3805T>C (p.Phe1269Leu) variant DOID:630 genetic disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10051294 CV193190 NM_001330260.2(SCN8A):c.5152C>T (p.Pro1718Ser) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 10051295 CV193192 NM_014846.4(WASHC5):c.3296T>C (p.Ile1099Thr) variant DOID:0110823 hereditary spastic paraplegia 8 IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 PMID:24215330|PMID:25741868|PMID:28492532 10051295 CV193192 NM_014846.4(WASHC5):c.3296T>C (p.Ile1099Thr) variant DOID:2476 hereditary spastic paraplegia IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:24215330|PMID:25741868|PMID:28492532 10051296 CV193193 NM_015102.5(NPHP4):c.3674C>T (p.Thr1225Met) variant DOID:0111112 nephronophthisis 1 IAGP D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:15776426|PMID:21546380|PMID:25741868|PMID:28492532 10051296 CV193193 NM_015102.5(NPHP4):c.3674C>T (p.Thr1225Met) variant DOID:0111115 nephronophthisis 4 IAGP D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Nephronophthisis 4 PMID:15776426|PMID:21546380|PMID:25741868|PMID:28492532 10051296 CV193193 NM_015102.5(NPHP4):c.3674C>T (p.Thr1225Met) variant DOID:12712 nephronophthisis IAGP D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:15776426|PMID:21546380|PMID:25741868|PMID:28492532 10051296 CV193193 NM_015102.5(NPHP4):c.3674C>T (p.Thr1225Met) variant DOID:557 kidney disease IAGP D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney disease PMID:15776426|PMID:21546380|PMID:25741868|PMID:28492532 10051296 CV193193 NM_015102.5(NPHP4):c.3674C>T (p.Thr1225Met) variant DOID:9000511 Senior-Loken Syndrome 4 IAGP D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 4 PMID:15776426|PMID:21546380|PMID:25741868|PMID:28492532 10051297 CV193194 NM_015295.3(SMCHD1):c.3444T>A (p.Pro1148=) variant DOID:0111193 facioscapulohumeral muscular dystrophy 2 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 2 PMID:25741868|PMID:28492532 10051297 CV193194 NM_015295.3(SMCHD1):c.3444T>A (p.Pro1148=) variant DOID:630 genetic disease IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10051298 CV193195 NM_017534.6(MYH2):c.3384C>T (p.Ile1128=) variant DOID:0080719 congenital myopathy 6 IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia PMID:28492532 10051299 CV193196 NM_017534.6(MYH2):c.3432C>T (p.Asp1144=) variant DOID:0080719 congenital myopathy 6 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia PMID:25741868|PMID:28492532 10051300 CV193198 NM_018136.5(ASPM):c.10295T>A (p.Ile3432Asn) variant DOID:0070280 primary autosomal recessive microcephaly 5 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Microcephaly 5, primary, autosomal recessive PMID:25741868|PMID:28492532 10051301 CV193199 NM_001040142.2(SCN2A):c.5505C>T (p.Asn1835=) variant DOID:0081116 benign familial infantile seizures 3 IAGP D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Seizures, benign familial infantile, 3 PMID:28492532 10051301 CV193199 NM_001040142.2(SCN2A):c.5505C>T (p.Asn1835=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10051302 CV193201 NM_022124.6(CDH23):c.3172C>G (p.Leu1058Val) variant DOID:0050439 Usher syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness PMID:25741868|PMID:28492532 10051302 CV193201 NM_022124.6(CDH23):c.3172C>G (p.Leu1058Val) variant DOID:0110467 autosomal recessive nonsyndromic deafness 12 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 12 PMID:25741868|PMID:28492532 10051302 CV193201 NM_022124.6(CDH23):c.3172C>G (p.Leu1058Val) variant DOID:0110826 Usher syndrome type 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1 PMID:25741868|PMID:28492532 10051302 CV193201 NM_022124.6(CDH23):c.3172C>G (p.Leu1058Val) variant DOID:0110831 Usher syndrome type 1D IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID PMID:25741868|PMID:28492532 10051302 CV193201 NM_022124.6(CDH23):c.3172C>G (p.Leu1058Val) variant DOID:0112008 pituitary adenoma 5 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pituitary adenoma 5, multiple types PMID:25741868|PMID:28492532 10051302 CV193201 NM_022124.6(CDH23):c.3172C>G (p.Leu1058Val) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10051307 CV193212 NM_138694.4(PKHD1):c.3084A>G (p.Arg1028=) variant DOID:0110861 autosomal recessive polycystic kidney disease IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease PMID:28492532 10051308 CV193214 NM_138694.4(PKHD1):c.2971G>A (p.Gly991Arg) variant DOID:0080212 polycystic kidney disease 4 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease 4 PMID:25741868 10051310 CV193217 NM_001267550.2(TTN):c.69383C>A (p.Ser23128Tyr) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10051310 CV193217 NM_001267550.2(TTN):c.69383C>A (p.Ser23128Tyr) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Salih Myopathy PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10051310 CV193217 NM_001267550.2(TTN):c.69383C>A (p.Ser23128Tyr) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10 PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10051310 CV193217 NM_001267550.2(TTN):c.69383C>A (p.Ser23128Tyr) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10051310 CV193217 NM_001267550.2(TTN):c.69383C>A (p.Ser23128Tyr) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10051310 CV193217 NM_001267550.2(TTN):c.69383C>A (p.Ser23128Tyr) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10051312 CV193219 NM_001267550.2(TTN):c.70435C>T (p.Arg23479Trp) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:26272908|PMID:28492532 10051312 CV193219 NM_001267550.2(TTN):c.70435C>T (p.Arg23479Trp) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:26272908|PMID:28492532 10051314 CV193221 NM_001267550.2(TTN):c.83516G>A (p.Arg27839Gln) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:24440382|PMID:25163546|PMID:25741868|PMID:26559152|PMID:28492532|PMID:30993396|PMID:33692775|PMID:37549721 10051314 CV193221 NM_001267550.2(TTN):c.83516G>A (p.Arg27839Gln) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Salih Myopathy PMID:24440382|PMID:25163546|PMID:25741868|PMID:26559152|PMID:28492532|PMID:30993396|PMID:33692775|PMID:37549721 10051314 CV193221 NM_001267550.2(TTN):c.83516G>A (p.Arg27839Gln) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10 PMID:24440382|PMID:25163546|PMID:25741868|PMID:26559152|PMID:28492532|PMID:30993396|PMID:33692775|PMID:37549721 10051314 CV193221 NM_001267550.2(TTN):c.83516G>A (p.Arg27839Gln) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:24440382|PMID:25163546|PMID:25741868|PMID:26559152|PMID:28492532|PMID:30993396|PMID:33692775|PMID:37549721 10051314 CV193221 NM_001267550.2(TTN):c.83516G>A (p.Arg27839Gln) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:24440382|PMID:25163546|PMID:25741868|PMID:26559152|PMID:28492532|PMID:30993396|PMID:33692775|PMID:37549721 10051314 CV193221 NM_001267550.2(TTN):c.83516G>A (p.Arg27839Gln) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Hereditary myopathy with early respiratory failure PMID:24440382|PMID:25163546|PMID:25741868|PMID:26559152|PMID:28492532|PMID:30993396|PMID:33692775|PMID:37549721 10051314 CV193221 NM_001267550.2(TTN):c.83516G>A (p.Arg27839Gln) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:24440382|PMID:25163546|PMID:25741868|PMID:26559152|PMID:28492532|PMID:30993396|PMID:33692775|PMID:37549721 10051316 CV193224 NM_001267550.2(TTN):c.82687C>T (p.Arg27563Cys) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Salih Myopathy PMID:25741868|PMID:26567375 10051316 CV193224 NM_001267550.2(TTN):c.82687C>T (p.Arg27563Cys) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10 PMID:25741868|PMID:26567375 10051316 CV193224 NM_001267550.2(TTN):c.82687C>T (p.Arg27563Cys) variant DOID:0110315 hypertrophic cardiomyopathy 9 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 9 PMID:25741868|PMID:26567375 10051316 CV193224 NM_001267550.2(TTN):c.82687C>T (p.Arg27563Cys) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:25741868|PMID:26567375 10051316 CV193224 NM_001267550.2(TTN):c.82687C>T (p.Arg27563Cys) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Udd Distal Myopathy PMID:25741868|PMID:26567375 10051316 CV193224 NM_001267550.2(TTN):c.82687C>T (p.Arg27563Cys) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant PMID:25741868|PMID:26567375 10051318 CV193226 NM_001267550.2(TTN):c.72766A>G (p.Asn24256Asp) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Early-onset myopathy with fatal cardiomyopathy PMID:25741868|PMID:28492532|PMID:37091313 10051318 CV193226 NM_001267550.2(TTN):c.72766A>G (p.Asn24256Asp) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:25741868|PMID:28492532|PMID:37091313 10051318 CV193226 NM_001267550.2(TTN):c.72766A>G (p.Asn24256Asp) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:25741868|PMID:28492532|PMID:37091313 10051318 CV193226 NM_001267550.2(TTN):c.72766A>G (p.Asn24256Asp) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: UDD Myopathy PMID:25741868|PMID:28492532|PMID:37091313 10051318 CV193226 NM_001267550.2(TTN):c.72766A>G (p.Asn24256Asp) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:25741868|PMID:28492532|PMID:37091313 10051319 CV193227 NM_001267550.2(TTN):c.81472C>G (p.Pro27158Ala) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23396983|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28771489 10051319 CV193227 NM_001267550.2(TTN):c.81472C>G (p.Pro27158Ala) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:23396983|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28771489 10051319 CV193227 NM_001267550.2(TTN):c.81472C>G (p.Pro27158Ala) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23396983|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28771489 10051320 CV193228 NM_001267550.2(TTN):c.80876G>A (p.Gly26959Asp) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:28492532 10051321 CV193229 NM_001267550.2(TTN):c.83315A>T (p.Asn27772Ile) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:24033266|PMID:25741868|PMID:26516846|PMID:27854218|PMID:28492532 10051321 CV193229 NM_001267550.2(TTN):c.83315A>T (p.Asn27772Ile) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Early-onset myopathy with fatal cardiomyopathy PMID:24033266|PMID:25741868|PMID:26516846|PMID:27854218|PMID:28492532 10051321 CV193229 NM_001267550.2(TTN):c.83315A>T (p.Asn27772Ile) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:24033266|PMID:25741868|PMID:26516846|PMID:27854218|PMID:28492532 10051321 CV193229 NM_001267550.2(TTN):c.83315A>T (p.Asn27772Ile) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:24033266|PMID:25741868|PMID:26516846|PMID:27854218|PMID:28492532 10051321 CV193229 NM_001267550.2(TTN):c.83315A>T (p.Asn27772Ile) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:24033266|PMID:25741868|PMID:26516846|PMID:27854218|PMID:28492532 10051321 CV193229 NM_001267550.2(TTN):c.83315A>T (p.Asn27772Ile) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:24033266|PMID:25741868|PMID:26516846|PMID:27854218|PMID:28492532 10051323 CV193231 NM_001267550.2(TTN):c.80854G>A (p.Val26952Ile) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early-onset myopathy with fatal cardiomyopathy PMID:25741868|PMID:28492532 10051323 CV193231 NM_001267550.2(TTN):c.80854G>A (p.Val26952Ile) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:25741868|PMID:28492532 10051323 CV193231 NM_001267550.2(TTN):c.80854G>A (p.Val26952Ile) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:25741868|PMID:28492532 10051323 CV193231 NM_001267550.2(TTN):c.80854G>A (p.Val26952Ile) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:25741868|PMID:28492532 10051323 CV193231 NM_001267550.2(TTN):c.80854G>A (p.Val26952Ile) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:25741868|PMID:28492532 10051325 CV193233 NM_001267550.2(TTN):c.76556T>C (p.Ile25519Thr) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:25741868|PMID:28492532 10051329 CV193237 NM_001267550.2(TTN):c.86052T>C (p.Thr28684=) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Myopathy, early-onset, with fatal cardiomyopathy PMID:25741868|PMID:28492532 10051329 CV193237 NM_001267550.2(TTN):c.86052T>C (p.Thr28684=) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2J PMID:25741868|PMID:28492532 10051329 CV193237 NM_001267550.2(TTN):c.86052T>C (p.Thr28684=) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:25741868|PMID:28492532 10051329 CV193237 NM_001267550.2(TTN):c.86052T>C (p.Thr28684=) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:25741868|PMID:28492532 10051329 CV193237 NM_001267550.2(TTN):c.86052T>C (p.Thr28684=) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20190702 ClinVar ClinVar Annotator: match by term: Hereditary myopathy with early respiratory failure PMID:25741868|PMID:28492532 10051330 CV193238 NM_001267550.2(TTN):c.80527T>C (p.Leu26843=) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:25741868|PMID:28492532 10051330 CV193238 NM_001267550.2(TTN):c.80527T>C (p.Leu26843=) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:25741868|PMID:28492532 10051330 CV193238 NM_001267550.2(TTN):c.80527T>C (p.Leu26843=) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:25741868|PMID:28492532 10051333 CV193241 NM_001267550.2(TTN):c.77249G>A (p.Arg25750Gln) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:25741868|PMID:30847666 10051333 CV193241 NM_001267550.2(TTN):c.77249G>A (p.Arg25750Gln) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Early-onset myopathy with fatal cardiomyopathy PMID:25741868|PMID:30847666 10051333 CV193241 NM_001267550.2(TTN):c.77249G>A (p.Arg25750Gln) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:25741868|PMID:30847666 10051333 CV193241 NM_001267550.2(TTN):c.77249G>A (p.Arg25750Gln) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:25741868|PMID:30847666 10051333 CV193241 NM_001267550.2(TTN):c.77249G>A (p.Arg25750Gln) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:25741868|PMID:30847666 10051333 CV193241 NM_001267550.2(TTN):c.77249G>A (p.Arg25750Gln) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:25741868|PMID:30847666 10051334 CV193243 NM_001267550.2(TTN):c.70097T>C (p.Val23366Ala) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:25741868|PMID:28492532 10051334 CV193243 NM_001267550.2(TTN):c.70097T>C (p.Val23366Ala) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:25741868|PMID:28492532 10051335 CV193244 NM_001267550.2(TTN):c.77706C>T (p.Asp25902=) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10 PMID:28492532 10051335 CV193244 NM_001267550.2(TTN):c.77706C>T (p.Asp25902=) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:28492532 10051336 CV193245 NM_001267550.2(TTN):c.86809G>A (p.Val28937Ile) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:25741868 10051340 CV193249 NM_001267550.2(TTN):c.73914G>A (p.Glu24638=) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:28492532 10051340 CV193249 NM_001267550.2(TTN):c.73914G>A (p.Glu24638=) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:28492532 10051341 CV193250 NM_001267550.2(TTN):c.86024C>T (p.Pro28675Leu) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:25741868|PMID:28600779 10051342 CV193251 NM_001267550.2(TTN):c.79481C>T (p.Ala26494Val) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Salih Myopathy PMID:25741868 10051342 CV193251 NM_001267550.2(TTN):c.79481C>T (p.Ala26494Val) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10 PMID:25741868 10051342 CV193251 NM_001267550.2(TTN):c.79481C>T (p.Ala26494Val) variant DOID:0110315 hypertrophic cardiomyopathy 9 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 9 PMID:25741868 10051342 CV193251 NM_001267550.2(TTN):c.79481C>T (p.Ala26494Val) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:25741868 10051342 CV193251 NM_001267550.2(TTN):c.79481C>T (p.Ala26494Val) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Udd Distal Myopathy PMID:25741868 10051342 CV193251 NM_001267550.2(TTN):c.79481C>T (p.Ala26494Val) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant PMID:25741868 10051343 CV193252 NM_001267550.2(TTN):c.81123G>A (p.Thr27041=) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:26467025|PMID:28492532 10051343 CV193252 NM_001267550.2(TTN):c.81123G>A (p.Thr27041=) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:26467025|PMID:28492532 10051344 CV193253 NM_001267550.2(TTN):c.73873T>C (p.Leu24625=) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:26467025|PMID:28492532 10051344 CV193253 NM_001267550.2(TTN):c.73873T>C (p.Leu24625=) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:26467025|PMID:28492532 10051345 CV193255 NM_001267550.2(TTN):c.73304G>A (p.Arg24435His) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Early-onset myopathy with fatal cardiomyopathy PMID:25741868 10051345 CV193255 NM_001267550.2(TTN):c.73304G>A (p.Arg24435His) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:25741868 10051345 CV193255 NM_001267550.2(TTN):c.73304G>A (p.Arg24435His) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:25741868 10051345 CV193255 NM_001267550.2(TTN):c.73304G>A (p.Arg24435His) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:25741868 10051345 CV193255 NM_001267550.2(TTN):c.73304G>A (p.Arg24435His) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:25741868 10051347 CV193257 NM_001267550.2(TTN):c.88106G>T (p.Gly29369Val) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:28492532 10051348 CV193258 NM_001267550.2(TTN):c.88248T>C (p.Val29416=) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:28492532 10051350 CV193260 NM_000260.4(MYO7A):c.3527G>A (p.Ser1176Asn) variant DOID:0050439 Usher syndrome IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:25741868|PMID:26969326|PMID:27344577|PMID:27460420|PMID:28492532|PMID:33297549 10051350 CV193260 NM_000260.4(MYO7A):c.3527G>A (p.Ser1176Asn) variant DOID:0110477 autosomal recessive nonsyndromic deafness 2 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 2 PMID:25741868|PMID:26969326|PMID:27344577|PMID:27460420|PMID:28492532|PMID:33297549 10051350 CV193260 NM_000260.4(MYO7A):c.3527G>A (p.Ser1176Asn) variant DOID:0110543 autosomal dominant nonsyndromic deafness 11 IAGP D RGD:8554872 20250723 ClinVar ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 11 PMID:25741868|PMID:26969326|PMID:27344577|PMID:27460420|PMID:28492532|PMID:33297549 10051350 CV193260 NM_000260.4(MYO7A):c.3527G>A (p.Ser1176Asn) variant DOID:0110826 Usher syndrome type 1 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1 PMID:25741868|PMID:26969326|PMID:27344577|PMID:27460420|PMID:28492532|PMID:33297549 10051350 CV193260 NM_000260.4(MYO7A):c.3527G>A (p.Ser1176Asn) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:26969326|PMID:27344577|PMID:27460420|PMID:28492532|PMID:33297549 10051351 CV193261 NM_000293.3(PHKB):c.2766-7G>A variant DOID:0111041 glycogen storage disease IXB IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXb PMID:28492532 10051352 CV193265 NM_201384.3(PLEC):c.3745C>A (p.Arg1249=) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy PMID:26467025|PMID:28492532 10051353 CV193266 NM_201384.3(PLEC):c.3731T>G (p.Val1244Gly) variant DOID:0060733 junctional epidermolysis bullosa with pyloric atresia IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5B, WITH PYLORIC ATRESIA PMID:25741868|PMID:28492532 10051353 CV193266 NM_201384.3(PLEC):c.3731T>G (p.Val1244Gly) variant DOID:0060736 epidermolysis bullosa simplex Ogna type IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Ogna type PMID:25741868|PMID:28492532 10051353 CV193266 NM_201384.3(PLEC):c.3731T>G (p.Val1244Gly) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:25741868|PMID:28492532 10051353 CV193266 NM_201384.3(PLEC):c.3731T>G (p.Val1244Gly) variant DOID:0110285 autosomal recessive limb-girdle muscular dystrophy type 2Q IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2Q PMID:25741868|PMID:28492532 10051353 CV193266 NM_201384.3(PLEC):c.3731T>G (p.Val1244Gly) variant DOID:9001254 Epidermolysis Bullosa Simplex 5D with Nail Dystrophy IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy PMID:25741868|PMID:28492532 10051353 CV193266 NM_201384.3(PLEC):c.3731T>G (p.Val1244Gly) variant DOID:9003881 Epidermolysis Bullosa Simplex 5C with Pyloric Atresia IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with pyloric atresia PMID:25741868|PMID:28492532 10051354 CV193267 NM_201384.3(PLEC):c.3620G>T (p.Arg1207Leu) variant DOID:0060736 epidermolysis bullosa simplex Ogna type IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Ogna type PMID:26467025|PMID:28492532 10051354 CV193267 NM_201384.3(PLEC):c.3620G>T (p.Arg1207Leu) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy PMID:26467025|PMID:28492532 10051354 CV193267 NM_201384.3(PLEC):c.3620G>T (p.Arg1207Leu) variant DOID:0110285 autosomal recessive limb-girdle muscular dystrophy type 2Q IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2Q PMID:26467025|PMID:28492532 10051354 CV193267 NM_201384.3(PLEC):c.3620G>T (p.Arg1207Leu) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532 10051354 CV193267 NM_201384.3(PLEC):c.3620G>T (p.Arg1207Leu) variant DOID:9001254 Epidermolysis Bullosa Simplex 5D with Nail Dystrophy IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy PMID:26467025|PMID:28492532 10051354 CV193267 NM_201384.3(PLEC):c.3620G>T (p.Arg1207Leu) variant DOID:9003881 Epidermolysis Bullosa Simplex 5C with Pyloric Atresia IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with pyloric atresia PMID:26467025|PMID:28492532 10051355 CV193269 NM_000540.3(RYR1):c.4113G>C (p.Arg1371Ser) variant DOID:8545 malignant hyperthermia IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Malignant hyperpyrexia PMID:25741868|PMID:28492532 10051355 CV193269 NM_000540.3(RYR1):c.4113G>C (p.Arg1371Ser) variant DOID:9005320 Malignant Fever IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Pharmacogenic myopathy PMID:25741868|PMID:28492532 10051357 CV193271 NM_001035.3(RYR2):c.3356G>A (p.Arg1119His) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:25351510|PMID:25741868|PMID:25925909|PMID:28404607|PMID:28492532|PMID:35276540 10051357 CV193271 NM_001035.3(RYR2):c.3356G>A (p.Arg1119His) variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:25351510|PMID:25741868|PMID:25925909|PMID:28404607|PMID:28492532|PMID:35276540 10051358 CV193272 NM_001110556.2(FLNA):c.4737G>C (p.Leu1579=) variant DOID:0050454 periventricular nodular heterotopia IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Periventricular nodular heterotopia 1 PMID:25741868|PMID:28492532 10051358 CV193272 NM_001110556.2(FLNA):c.4737G>C (p.Leu1579=) variant DOID:0111784 otopalatodigital syndrome type 2 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II PMID:25741868|PMID:28492532 10051358 CV193272 NM_001110556.2(FLNA):c.4737G>C (p.Leu1579=) variant DOID:0111785 frontometaphyseal dysplasia IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Frontometaphyseal dysplasia PMID:25741868|PMID:28492532 10051358 CV193272 NM_001110556.2(FLNA):c.4737G>C (p.Leu1579=) variant DOID:0111788 Melnick-Needles syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles PMID:25741868|PMID:28492532 10051358 CV193272 NM_001110556.2(FLNA):c.4737G>C (p.Leu1579=) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10051358 CV193272 NM_001110556.2(FLNA):c.4737G>C (p.Leu1579=) variant DOID:65 connective tissue disease IAGP D RGD:8554872 20181009 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 10051358 CV193272 NM_001110556.2(FLNA):c.4737G>C (p.Leu1579=) variant DOID:9005082 Periventricular Nodular Heterotopia 4 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant PMID:25741868|PMID:28492532 10051359 CV193274 NM_001849.4(COL6A2):c.2517C>T (p.Asp839=) variant DOID:0050663 Bethlem myopathy IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Myopathy, benign congenital, with contractures PMID:28492532 10051359 CV193274 NM_001849.4(COL6A2):c.2517C>T (p.Asp839=) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:28492532 10051359 CV193274 NM_001849.4(COL6A2):c.2517C>T (p.Asp839=) variant DOID:9007626 Myosclerosis, Autosomal Recessive IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Myosclerosis PMID:28492532 10051360 CV193275 NM_001849.4(COL6A2):c.2961G>A (p.Thr987=) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:28492532 10051361 CV193276 NM_001849.4(COL6A2):c.2796G>A (p.Pro932=) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:28492532 10051362 CV193278 NM_001849.4(COL6A2):c.2751G>T (p.Val917=) variant DOID:0050663 Bethlem myopathy IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Collagen VI-related myopathy PMID:25741868|PMID:28492532 10051362 CV193278 NM_001849.4(COL6A2):c.2751G>T (p.Val917=) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:25741868|PMID:28492532 10051362 CV193278 NM_001849.4(COL6A2):c.2751G>T (p.Val917=) variant DOID:9007626 Myosclerosis, Autosomal Recessive IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Myosclerosis PMID:25741868|PMID:28492532 10051363 CV193280 NM_001849.4(COL6A2):c.2683A>C (p.Ser895Arg) variant DOID:0050663 Bethlem myopathy IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Myopathy, benign congenital, with contractures PMID:17886299|PMID:28492532 10051363 CV193280 NM_001849.4(COL6A2):c.2683A>C (p.Ser895Arg) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:17886299|PMID:28492532 10051364 CV193282 NM_001849.4(COL6A2):c.2679G>A (p.Pro893=) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:28492532 10051365 CV193283 NM_001849.4(COL6A2):c.2850C>T (p.Gly950=) variant DOID:0050663 Bethlem myopathy IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Myopathy, benign congenital, with contractures PMID:28492532 10051365 CV193283 NM_001849.4(COL6A2):c.2850C>T (p.Gly950=) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:28492532 10051366 CV193284 NM_001849.4(COL6A2):c.2605G>T (p.Asp869Tyr) variant DOID:0050663 Bethlem myopathy IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Collagen VI-related myopathy PMID:28492532 10051366 CV193284 NM_001849.4(COL6A2):c.2605G>T (p.Asp869Tyr) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:28492532 10051366 CV193284 NM_001849.4(COL6A2):c.2605G>T (p.Asp869Tyr) variant DOID:9007626 Myosclerosis, Autosomal Recessive IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Myosclerosis PMID:28492532 10051367 CV193285 NM_002334.4(LRP4):c.3980G>A (p.Arg1327Gln) variant DOID:0060757 sclerosteosis 2 IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Sclerosteosis 2 PMID:25741868|PMID:28492532 10051367 CV193285 NM_002334.4(LRP4):c.3980G>A (p.Arg1327Gln) variant DOID:0090015 Cenani-Lenz syndactyly syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cenani-Lenz syndactyly syndrome PMID:25741868|PMID:28492532 10051367 CV193285 NM_002334.4(LRP4):c.3980G>A (p.Arg1327Gln) variant DOID:0110674 congenital myasthenic syndrome 17 IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 17 PMID:25741868|PMID:28492532 10051368 CV193286 NM_001130987.2(DYSF):c.3065A>G (p.Asn1022Ser) variant DOID:0070199 Miyoshi muscular dystrophy 1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Miyoshi muscular dystrophy 1 PMID:25741868|PMID:28492532 10051368 CV193286 NM_001130987.2(DYSF):c.3065A>G (p.Asn1022Ser) variant DOID:0110276 autosomal recessive limb-girdle muscular dystrophy type 2B IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 3 PMID:25741868|PMID:28492532 10051368 CV193286 NM_001130987.2(DYSF):c.3065A>G (p.Asn1022Ser) variant DOID:0111187 distal myopathy with anterior tibial onset IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Distal myopathy with anterior tibial onset PMID:25741868|PMID:28492532 10051368 CV193286 NM_001130987.2(DYSF):c.3065A>G (p.Asn1022Ser) variant DOID:630 genetic disease IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10051368 CV193286 NM_001130987.2(DYSF):c.3065A>G (p.Asn1022Ser) variant DOID:9004518 Dysferlinopathy IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dysferlinopathy PMID:25741868|PMID:28492532 10051369 CV193288 NM_004006.3(DMD):c.3816G>C (p.Leu1272Phe) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:25741868|PMID:26467025|PMID:28492532|PMID:29517769|PMID:29961767 10051369 CV193288 NM_004006.3(DMD):c.3816G>C (p.Leu1272Phe) variant DOID:0110461 X-linked dilated cardiomyopathy IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 3B PMID:25741868|PMID:26467025|PMID:28492532|PMID:29517769|PMID:29961767 10051369 CV193288 NM_004006.3(DMD):c.3816G>C (p.Leu1272Phe) variant DOID:11723 Duchenne muscular dystrophy IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:25741868|PMID:26467025|PMID:28492532|PMID:29517769|PMID:29961767 10051369 CV193288 NM_004006.3(DMD):c.3816G>C (p.Leu1272Phe) variant DOID:9883 Becker muscular dystrophy IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, BECKER TYPE PMID:25741868|PMID:26467025|PMID:28492532|PMID:29517769|PMID:29961767 10051370 CV193289 NM_004082.5(DCTN1):c.3250C>T (p.Pro1084Ser) variant DOID:0060193 amyotrophic lateral sclerosis type 1 IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 PMID:28492532|PMID:32843152 10051370 CV193289 NM_004082.5(DCTN1):c.3250C>T (p.Pro1084Ser) variant DOID:0060486 Perry syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Parkinsonism with alveolar hypoventilation and mental depression PMID:28492532|PMID:32843152 10051370 CV193289 NM_004082.5(DCTN1):c.3250C>T (p.Pro1084Ser) variant DOID:0111202 autosomal dominant distal hereditary motor neuronopathy 14 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7B PMID:28492532|PMID:32843152 10051370 CV193289 NM_004082.5(DCTN1):c.3250C>T (p.Pro1084Ser) variant DOID:630 genetic disease IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:32843152 10051371 CV193291 NM_004369.4(COL6A3):c.6817-5T>C variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:28492532 10051373 CV193297 NM_014714.4(IFT140):c.3675G>T (p.Leu1225=) variant DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:28492532 10051374 CV193298 NM_015102.5(NPHP4):c.3927C>T (p.Asp1309=) variant DOID:0111112 nephronophthisis 1 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Juvenile Nephronophthisis PMID:28492532 10051374 CV193298 NM_015102.5(NPHP4):c.3927C>T (p.Asp1309=) variant DOID:0111115 nephronophthisis 4 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: NPHP4-related condition PMID:28492532 10051374 CV193298 NM_015102.5(NPHP4):c.3927C>T (p.Asp1309=) variant DOID:12712 nephronophthisis IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:28492532 10051375 CV193299 NM_015102.5(NPHP4):c.3911A>G (p.His1304Arg) variant DOID:0111112 nephronophthisis 1 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:23167750|PMID:25741868|PMID:28492532 10051375 CV193299 NM_015102.5(NPHP4):c.3911A>G (p.His1304Arg) variant DOID:0111115 nephronophthisis 4 IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Nephronophthisis 4 PMID:23167750|PMID:25741868|PMID:28492532 10051375 CV193299 NM_015102.5(NPHP4):c.3911A>G (p.His1304Arg) variant DOID:12712 nephronophthisis IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:23167750|PMID:25741868|PMID:28492532 10051375 CV193299 NM_015102.5(NPHP4):c.3911A>G (p.His1304Arg) variant DOID:9000511 Senior-Loken Syndrome 4 IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 4 PMID:23167750|PMID:25741868|PMID:28492532 10051376 CV193300 NM_015192.4(PLCB1):c.3135C>T (p.Val1045=) variant DOID:0080459 developmental and epileptic encephalopathy 12 IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12 PMID:28492532 10051376 CV193300 NM_015192.4(PLCB1):c.3135C>T (p.Val1045=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10051377 CV193302 NM_032119.4(ADGRV1):c.5953A>C (p.Asn1985His) variant DOID:0111305 familial febrile seizures 4 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: ADGRV1-related disorder PMID:24033266|PMID:28492532 10051379 CV193305 NM_001267550.2(TTN):c.4981A>G (p.Ile1661Val) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:25741868|PMID:28492532 10051379 CV193305 NM_001267550.2(TTN):c.4981A>G (p.Ile1661Val) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:25741868|PMID:28492532 10051380 CV193306 NM_138694.4(PKHD1):c.3122G>A (p.Gly1041Asp) variant DOID:0080212 polycystic kidney disease 4 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE, INFANTILE, TYPE I PMID:25741868|PMID:33940108 10051380 CV193306 NM_138694.4(PKHD1):c.3122G>A (p.Gly1041Asp) variant DOID:0110861 autosomal recessive polycystic kidney disease IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease PMID:25741868|PMID:33940108 10051380 CV193306 NM_138694.4(PKHD1):c.3122G>A (p.Gly1041Asp) variant DOID:898 autosomal dominant polycystic kidney disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1 PMID:25741868|PMID:33940108 10051381 CV193307 NM_172364.5(CACNA2D4):c.2649C>T (p.Cys883=) variant DOID:0081023 retinal cone dystrophy 4 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Retinal cone dystrophy 4 PMID:25741868|PMID:28492532 10051382 CV193308 NM_000335.5(SCN5A):c.5433G>A (p.Ser1811=) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Arrhythmia PMID:25741868|PMID:28492532 10051383 CV193309 NM_201384.3(PLEC):c.3778C>G (p.Arg1260Gly) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy PMID:26467025|PMID:28492532 10051384 CV193311 NM_001267550.2(TTN):c.88685G>A (p.Gly29562Asp) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Salih Myopathy PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30847666 10051384 CV193311 NM_001267550.2(TTN):c.88685G>A (p.Gly29562Asp) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30847666 10051384 CV193311 NM_001267550.2(TTN):c.88685G>A (p.Gly29562Asp) variant DOID:0110315 hypertrophic cardiomyopathy 9 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 9 PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30847666 10051384 CV193311 NM_001267550.2(TTN):c.88685G>A (p.Gly29562Asp) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30847666 10051384 CV193311 NM_001267550.2(TTN):c.88685G>A (p.Gly29562Asp) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Udd Distal Myopathy PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30847666 10051384 CV193311 NM_001267550.2(TTN):c.88685G>A (p.Gly29562Asp) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30847666 10051384 CV193311 NM_001267550.2(TTN):c.88685G>A (p.Gly29562Asp) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30847666 10051388 CV193316 NM_001267550.2(TTN):c.91434A>C (p.Glu30478Asp) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:25741868|PMID:26467025|PMID:28492532 10051388 CV193316 NM_001267550.2(TTN):c.91434A>C (p.Glu30478Asp) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:25741868|PMID:26467025|PMID:28492532 10051389 CV193317 NM_001267550.2(TTN):c.91589C>T (p.Pro30530Leu) variant DOID:0050431 arrhythmogenic right ventricular cardiomyopathy IAGP D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:24033266|PMID:25741868|PMID:28492532 10051389 CV193317 NM_001267550.2(TTN):c.91589C>T (p.Pro30530Leu) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10 PMID:24033266|PMID:25741868|PMID:28492532 10051389 CV193317 NM_001267550.2(TTN):c.91589C>T (p.Pro30530Leu) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:24033266|PMID:25741868|PMID:28492532 10051391 CV193319 NM_000089.4(COL1A2):c.1694G>C (p.Gly565Ala) variant DOID:0110334 osteogenesis imperfecta type 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type I PMID:17078022|PMID:19344236|PMID:28492532|PMID:7695699|PMID:8218237|PMID:9016532 10051392 CV193320 NM_000138.5(FBN1):c.3464-6C>T variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection PMID:25741868|PMID:28492532 10051392 CV193320 NM_000138.5(FBN1):c.3464-6C>T variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868|PMID:28492532 10051392 CV193320 NM_000138.5(FBN1):c.3464-6C>T variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:25741868|PMID:28492532 10051393 CV193321 NM_000392.5(ABCC2):c.4075A>C (p.Ile1359Leu) variant DOID:12308 Dubin-Johnson syndrome IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: ABCC2-related condition PMID:25741868|PMID:28492532 10051395 CV193323 NM_000489.6(ATRX):c.6405C>T (p.Phe2135=) variant DOID:0110030 alpha thalassemia-X-linked intellectual disability syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Alpha thalassemia-X-linked intellectual disability syndrome PMID:25741868|PMID:28492532 10051395 CV193323 NM_000489.6(ATRX):c.6405C>T (p.Phe2135=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10051396 CV193324 NM_001377.3(DYNC2H1):c.4386C>T (p.Asn1462=) variant DOID:0050592 asphyxiating thoracic dystrophy IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:28492532 10051397 CV193325 NM_001170629.2(CHD8):c.5346A>G (p.Ala1782=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10051399 CV193330 NM_001852.4(COL9A2):c.1576G>A (p.Val526Met) variant DOID:0070305 multiple epiphyseal dysplasia due to collagen 9 anomaly IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: COL9A2-related disorder PMID:25741868|PMID:28492532 10051399 CV193330 NM_001852.4(COL9A2):c.1576G>A (p.Val526Met) variant DOID:9002691 Stickler Syndrome, Type V IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Stickler syndrome, type 5 PMID:25741868|PMID:28492532 10051402 CV193334 NM_002471.4(MYH6):c.3979-8C>T variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10051402 CV193334 NM_002471.4(MYH6):c.3979-8C>T variant DOID:0110307 hypertrophic cardiomyopathy 1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 PMID:25741868|PMID:28492532 10051402 CV193334 NM_002471.4(MYH6):c.3979-8C>T variant DOID:0110320 hypertrophic cardiomyopathy 14 IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 14 PMID:25741868|PMID:28492532 10051403 CV193337 NM_001130987.2(DYSF):c.3086-9C>T variant DOID:9004518 Dysferlinopathy IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dysferlinopathy PMID:26467025|PMID:28492532 10051404 CV193338 NM_004380.3(CREBBP):c.4729-14G>A variant DOID:1933 Rubinstein-Taybi syndrome IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:28492532 10051405 CV193340 NM_014714.4(IFT140):c.3988G>A (p.Ala1330Thr) variant DOID:0110097 short-rib thoracic dysplasia 9 with or without polydactyly IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Saldino-Mainzer syndrome PMID:25741868|PMID:28492532 10051405 CV193340 NM_014714.4(IFT140):c.3988G>A (p.Ala1330Thr) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532 10051406 CV193342 NM_017780.4(CHD7):c.5848G>A (p.Ala1950Thr) variant DOID:0050834 CHARGE syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: CHARGE association PMID:28492532 10051406 CV193342 NM_017780.4(CHD7):c.5848G>A (p.Ala1950Thr) variant DOID:630 genetic disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10051406 CV193342 NM_017780.4(CHD7):c.5848G>A (p.Ala1950Thr) variant DOID:9004226 Hittner Hirsch Kreh Syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome PMID:28492532 10051407 CV193343 NM_152564.5(VPS13B):c.4570G>T (p.Val1524Phe) variant DOID:0111590 Cohen syndrome IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: VPS13B-related condition PMID:25741868|PMID:28492532 10051407 CV193343 NM_152564.5(VPS13B):c.4570G>T (p.Val1524Phe) variant DOID:9001162 Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness PMID:25741868|PMID:28492532 10051408 CV193344 NM_152564.5(VPS13B):c.4622C>T (p.Pro1541Leu) variant DOID:0111590 Cohen syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Pepper syndrome PMID:28492532 10051408 CV193344 NM_152564.5(VPS13B):c.4622C>T (p.Pro1541Leu) variant DOID:630 genetic disease IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10051408 CV193344 NM_152564.5(VPS13B):c.4622C>T (p.Pro1541Leu) variant DOID:9001162 Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness PMID:28492532 10051410 CV193349 NM_031407.7(HUWE1):c.3082A>G (p.Thr1028Ala) variant DOID:0112037 chromosome Xp11.22 duplication syndrome IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: HUWE1-related disorder PMID:25741868|PMID:28492532 10051410 CV193349 NM_031407.7(HUWE1):c.3082A>G (p.Thr1028Ala) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10051411 CV193350 NM_182961.4(SYNE1):c.3536A>C (p.Glu1179Ala) variant DOID:0070249 autosomal dominant Emery-Dreifuss muscular dystrophy 4 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant PMID:25741868|PMID:26467025|PMID:28492532|PMID:30610203 10051411 CV193350 NM_182961.4(SYNE1):c.3536A>C (p.Glu1179Ala) variant DOID:0111618 autosomal recessive spinocerebellar ataxia 8 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type PMID:25741868|PMID:26467025|PMID:28492532|PMID:30610203 10051412 CV193351 NM_138694.4(PKHD1):c.3242G>A (p.Arg1081His) variant DOID:0080212 polycystic kidney disease 4 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease 4 PMID:25741868|PMID:28492532 10051412 CV193351 NM_138694.4(PKHD1):c.3242G>A (p.Arg1081His) variant DOID:0110861 autosomal recessive polycystic kidney disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease PMID:25741868|PMID:28492532 10051412 CV193351 NM_138694.4(PKHD1):c.3242G>A (p.Arg1081His) variant DOID:630 genetic disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10051414 CV193353 NM_194248.3(OTOF):c.3694C>T (p.Arg1232Trp) variant DOID:630 genetic disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266 10051416 CV193355 NM_001267550.2(TTN):c.94980A>G (p.Glu31660=) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:26467025|PMID:28492532 10051416 CV193355 NM_001267550.2(TTN):c.94980A>G (p.Glu31660=) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:26467025|PMID:28492532 10051417 CV193356 NM_001267550.2(TTN):c.95245G>A (p.Glu31749Lys) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Salih Myopathy PMID:25741868|PMID:28492532 10051417 CV193356 NM_001267550.2(TTN):c.95245G>A (p.Glu31749Lys) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10 PMID:25741868|PMID:28492532 10051417 CV193356 NM_001267550.2(TTN):c.95245G>A (p.Glu31749Lys) variant DOID:0110315 hypertrophic cardiomyopathy 9 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 9 PMID:25741868|PMID:28492532 10051417 CV193356 NM_001267550.2(TTN):c.95245G>A (p.Glu31749Lys) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:25741868|PMID:28492532 10051417 CV193356 NM_001267550.2(TTN):c.95245G>A (p.Glu31749Lys) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Udd Distal Myopathy PMID:25741868|PMID:28492532 10051417 CV193356 NM_001267550.2(TTN):c.95245G>A (p.Glu31749Lys) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant PMID:25741868|PMID:28492532 10051417 CV193356 NM_001267550.2(TTN):c.95245G>A (p.Glu31749Lys) variant DOID:9005141 Ventricular Tachycardia IAGP D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:25741868|PMID:28492532 10051418 CV193357 NM_001267550.2(TTN):c.96235G>A (p.Asp32079Asn) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:24033266|PMID:25741868|PMID:26516846|PMID:28492532|PMID:34756330|PMID:37614113 10051418 CV193357 NM_001267550.2(TTN):c.96235G>A (p.Asp32079Asn) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: CONGENITAL MYOPATHY 5 WITH CARDIOMYOPATHY PMID:24033266|PMID:25741868|PMID:26516846|PMID:28492532|PMID:34756330|PMID:37614113 10051418 CV193357 NM_001267550.2(TTN):c.96235G>A (p.Asp32079Asn) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:24033266|PMID:25741868|PMID:26516846|PMID:28492532|PMID:34756330|PMID:37614113 10051418 CV193357 NM_001267550.2(TTN):c.96235G>A (p.Asp32079Asn) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:24033266|PMID:25741868|PMID:26516846|PMID:28492532|PMID:34756330|PMID:37614113 10051418 CV193357 NM_001267550.2(TTN):c.96235G>A (p.Asp32079Asn) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:24033266|PMID:25741868|PMID:26516846|PMID:28492532|PMID:34756330|PMID:37614113 10051418 CV193357 NM_001267550.2(TTN):c.96235G>A (p.Asp32079Asn) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Hereditary myopathy with early respiratory failure PMID:24033266|PMID:25741868|PMID:26516846|PMID:28492532|PMID:34756330|PMID:37614113 10051418 CV193357 NM_001267550.2(TTN):c.96235G>A (p.Asp32079Asn) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:24033266|PMID:25741868|PMID:26516846|PMID:28492532|PMID:34756330|PMID:37614113 10051419 CV193360 NM_000023.4(SGCA):c.230G>A (p.Arg77His) variant DOID:0110278 autosomal recessive limb-girdle muscular dystrophy type 2D IAGP D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2D PMID:15298081|PMID:16787395|PMID:18252745|PMID:18285821|PMID:25741868|PMID:28492532|PMID:7657792 10051421 CV193364 NM_001370658.1(BTD):c.339G>A (p.Pro113=) variant DOID:856 biotinidase deficiency IAGP D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Biotinidase deficiency PMID:28492532 10051422 CV193365 NM_000071.3(CBS):c.2T>C (p.Met1Thr) variant DOID:9263 homocystinuria IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:21520339|PMID:23733603|PMID:23974653|PMID:25218699|PMID:28492532|PMID:29352562 10051423 CV193369 NM_000104.4(CYP1B1):c.1290C>G (p.Asp430Glu) variant DOID:11211 buphthalmos IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Glaucoma 3, primary congenital, A PMID:20151268|PMID:25741868|PMID:39158757 10051425 CV193372 NM_000112.4(SLC26A2):c.987T>C (p.Leu329=) variant DOID:0070300 multiple epiphyseal dysplasia 4 IAGP D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Multiple epiphyseal dysplasia with bilayered patellae PMID:25741868|PMID:28492532 10051425 CV193372 NM_000112.4(SLC26A2):c.987T>C (p.Leu329=) variant DOID:0080055 achondrogenesis type IB IAGP D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Achondrogenesis Fraccaro type PMID:25741868|PMID:28492532 10051425 CV193372 NM_000112.4(SLC26A2):c.987T>C (p.Leu329=) variant DOID:14687 diastrophic dysplasia IAGP D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Diastrophic dysplasia PMID:25741868|PMID:28492532 10051425 CV193372 NM_000112.4(SLC26A2):c.987T>C (p.Leu329=) variant DOID:65 connective tissue disease IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disease PMID:25741868|PMID:28492532 10051425 CV193372 NM_000112.4(SLC26A2):c.987T>C (p.Leu329=) variant DOID:9006897 Atelosteogenesis Type 2 IAGP D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Atelosteogenesis type 2 PMID:25741868|PMID:28492532 10051426 CV193373 NM_000112.4(SLC26A2):c.1178G>A (p.Gly393Asp) variant DOID:0080055 achondrogenesis type IB IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IB PMID:28492532 10051428 CV193377 NM_000137.4(FAH):c.243G>A (p.Ala81=) variant DOID:0050726 tyrosinemia type I IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Tyrosinemia type I PMID:28492532 10051430 CV193383 NM_000152.5(GAA):c.688G>A (p.Val230Met) variant DOID:2752 glycogen storage disease II IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type II PMID:25741868|PMID:28492532 10051430 CV193383 NM_000152.5(GAA):c.688G>A (p.Val230Met) variant DOID:9001828 Cardiac Form of Generalized Glycogenosis IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomegalia glycogenica diffusa PMID:25741868|PMID:28492532 10051431 CV193384 NM_000152.5(GAA):c.615G>A (p.Pro205=) variant DOID:2752 glycogen storage disease II IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type II PMID:25741868|PMID:28492532 10051431 CV193384 NM_000152.5(GAA):c.615G>A (p.Pro205=) variant DOID:9001828 Cardiac Form of Generalized Glycogenosis IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomegalia glycogenica diffusa PMID:25741868|PMID:28492532 10051432 CV193385 NM_000154.2(GALK1):c.382G>A (p.Val128Met) variant DOID:14695 galactokinase deficiency IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deficiency of galactokinase PMID:28492532 10051433 CV193386 NM_000169.3(GLA):c.469C>T (p.Gln157Ter) variant DOID:14499 Fabry disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fabry disease PMID:10666480|PMID:12175777|PMID:15712228|PMID:15776423|PMID:16595074|PMID:18849176|PMID:23826564|PMID:23935525|PMID:25741868|PMID:28492532|PMID:29361493|PMID:7531540|PMID:9100224|PMID:9268104 10051434 CV193387 NM_000169.3(GLA):c.485G>A (p.Trp162Ter) variant DOID:14499 Fabry disease IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Fabry disease PMID:10649504|PMID:10666480|PMID:11668641|PMID:12175777|PMID:15776423|PMID:25741868|PMID:26415523|PMID:28492532 10051435 CV193389 NM_000193.4(SHH):c.897G>C (p.Leu299=) variant DOID:0110875 holoprosencephaly 3 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 3 PMID:25741868|PMID:28492532 10051435 CV193389 NM_000193.4(SHH):c.897G>C (p.Leu299=) variant DOID:630 genetic disease IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10051436 CV193390 NM_000193.4(SHH):c.853C>T (p.Pro285Ser) variant DOID:630 genetic disease IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10051437 CV193391 NM_000193.4(SHH):c.1078C>T (p.Leu360=) variant DOID:0110875 holoprosencephaly 3 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 3 PMID:22897141|PMID:26467025|PMID:28492532 10051437 CV193391 NM_000193.4(SHH):c.1078C>T (p.Leu360=) variant DOID:630 genetic disease IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22897141|PMID:26467025|PMID:28492532 10051439 CV193394 NM_000202.8(IDS):c.396G>A (p.Ser132=) variant DOID:0111395 mucopolysaccharidosis type IIIA IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-A PMID:25741868|PMID:28492532 10051439 CV193394 NM_000202.8(IDS):c.396G>A (p.Ser132=) variant DOID:12799 mucopolysaccharidosis II IAGP D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-II PMID:25741868|PMID:28492532 10051440 CV193396 NM_000203.5(IDUA):c.367G>A (p.Glu123Lys) variant DOID:12802 mucopolysaccharidosis I IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 PMID:25741868 10051441 CV193398 NM_000232.5(SGCB):c.429+5G>A variant DOID:0110279 autosomal recessive limb-girdle muscular dystrophy type 2E IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2E PMID:25741868 10051442 CV193400 NM_000255.4(MMUT):c.393G>A (p.Gln131=) variant DOID:0060740 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency PMID:28492532 10051443 CV193401 NM_000260.4(MYO7A):c.39C>A (p.Asp13Glu) variant DOID:0070655 Usher syndrome type 1B IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Usher syndrome, type 1B PMID:28492532 10051445 CV193406 NM_000282.4(PCCA):c.223G>C (p.Ala75Pro) variant DOID:14701 propionic acidemia IAGP D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:10329019|PMID:12385775|PMID:23648696|PMID:27900673|PMID:28492532 10051446 CV193407 NM_000286.3(PEX12):c.931C>T (p.Arg311Trp) variant DOID:0080478 peroxisome biogenesis disorder 3A IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 3A (Zellweger) PMID:28492532 10051446 CV193407 NM_000286.3(PEX12):c.931C>T (p.Arg311Trp) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10051447 CV193410 NM_000310.4(PPT1):c.329A>G (p.Asn110Ser) variant DOID:0110721 neuronal ceroid lipofuscinosis 1 IAGP D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 1 PMID:25741868|PMID:28492532|PMID:30541466|PMID:33528079|PMID:35693655 10051447 CV193410 NM_000310.4(PPT1):c.329A>G (p.Asn110Ser) variant DOID:1059 intellectual disability IAGP D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532|PMID:30541466|PMID:33528079|PMID:35693655 10051447 CV193410 NM_000310.4(PPT1):c.329A>G (p.Asn110Ser) variant DOID:630 genetic disease IAGP D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:30541466|PMID:33528079|PMID:35693655 10051448 CV193411 NM_000314.8(PTEN):c.208C>T (p.Leu70Phe) variant DOID:3070 high grade glioma IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Glioma susceptibility 2 PMID:25741868 10051450 CV193415 NM_000329.3(RPE65):c.168A>G (p.Pro56=) variant DOID:0110016 Leber congenital amaurosis 2 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 2 PMID:25741868|PMID:28492532 10051450 CV193415 NM_000329.3(RPE65):c.168A>G (p.Pro56=) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532 10051451 CV193416 NM_000337.6(SGCD):c.92G>A (p.Arg31Gln) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532|PMID:33919104|PMID:34790974 10051451 CV193416 NM_000337.6(SGCD):c.92G>A (p.Arg31Gln) variant DOID:0110280 autosomal recessive limb-girdle muscular dystrophy type 2F IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Delta-sarcoglycanopathy PMID:24033266|PMID:25741868|PMID:28492532|PMID:33919104|PMID:34790974 10051451 CV193416 NM_000337.6(SGCD):c.92G>A (p.Arg31Gln) variant DOID:0110436 dilated cardiomyopathy 1L IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1L PMID:24033266|PMID:25741868|PMID:28492532|PMID:33919104|PMID:34790974 10051452 CV193417 NM_000337.6(SGCD):c.32G>A (p.Arg11Gln) variant DOID:0110280 autosomal recessive limb-girdle muscular dystrophy type 2F IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2F PMID:25637381|PMID:25741868|PMID:28492532 10051452 CV193417 NM_000337.6(SGCD):c.32G>A (p.Arg11Gln) variant DOID:0110436 dilated cardiomyopathy 1L IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1L PMID:25637381|PMID:25741868|PMID:28492532 10051452 CV193417 NM_000337.6(SGCD):c.32G>A (p.Arg11Gln) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25637381|PMID:25741868|PMID:28492532 10051453 CV193419 NM_000372.5(TYR):c.1067A>T (p.Asp356Val) variant DOID:0070094 oculocutaneous albinism type IA IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Tyrosinase-negative oculocutaneous albinism PMID:25741868|PMID:28492532 10051454 CV193420 NM_000377.3(WAS):c.285G>A (p.Leu95=) variant DOID:0112128 X-linked severe congenital neutropenia IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: X-linked severe congenital neutropenia PMID:25741868|PMID:28492532 10051455 CV193424 NM_000391.4(TPP1):c.118C>T (p.Arg40Cys) variant DOID:0110726 neuronal ceroid lipofuscinosis 2 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid lipofuscinosis neuronal 2 PMID:28492532 10051455 CV193424 NM_000391.4(TPP1):c.118C>T (p.Arg40Cys) variant DOID:630 genetic disease IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10051460 CV193430 NM_000414.4(HSD17B4):c.175G>A (p.Val59Ile) variant DOID:0090031 D-bifunctional protein deficiency IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bifunctional peroxisomal enzyme deficiency PMID:28492532 10051460 CV193430 NM_000414.4(HSD17B4):c.175G>A (p.Val59Ile) variant DOID:630 genetic disease IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10051461 CV193431 NM_000426.4(LAMA2):c.284-4A>G variant DOID:0110636 congenital merosin-deficient muscular dystrophy 1A IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Laminin alpha 2-related dystrophy PMID:25741868|PMID:28492532 10051464 CV193434 NM_000443.4(ABCB4):c.101C>T (p.Thr34Met) variant DOID:0070223 progressive familial intrahepatic cholestasis 3 IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: MDR3 deficiency PMID:22331132|PMID:24723470|PMID:25133187|PMID:25741868|PMID:27256251|PMID:28355206|PMID:28492532|PMID:28587926|PMID:33201677|PMID:33390354|PMID:35626323 10051464 CV193434 NM_000443.4(ABCB4):c.101C>T (p.Thr34Met) variant DOID:0070226 progressive familial intrahepatic cholestasis 1 IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Byler disease PMID:22331132|PMID:24723470|PMID:25133187|PMID:25741868|PMID:27256251|PMID:28355206|PMID:28492532|PMID:28587926|PMID:33201677|PMID:33390354|PMID:35626323 10051464 CV193434 NM_000443.4(ABCB4):c.101C>T (p.Thr34Met) variant DOID:0070229 intrahepatic cholestasis of pregnancy 3 IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Cholestasis, intrahepatic, of pregnancy, 3 PMID:22331132|PMID:24723470|PMID:25133187|PMID:25741868|PMID:27256251|PMID:28355206|PMID:28492532|PMID:28587926|PMID:33201677|PMID:33390354|PMID:35626323 10051464 CV193434 NM_000443.4(ABCB4):c.101C>T (p.Thr34Met) variant DOID:9004618 Gallbladder Disease 1 IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Low phospholipid associated cholelithiasis PMID:22331132|PMID:24723470|PMID:25133187|PMID:25741868|PMID:27256251|PMID:28355206|PMID:28492532|PMID:28587926|PMID:33201677|PMID:33390354|PMID:35626323 10051465 CV193435 NM_201384.3(PLEC):c.174+10G>A variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy PMID:26467025|PMID:28492532 10051466 CV193436 NM_000487.6(ARSA):c.640G>A (p.Ala214Thr) variant DOID:10581 metachromatic leukodystrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:14517960|PMID:25741868|PMID:28492532|PMID:30057904|PMID:36240581|PMID:37480112|PMID:7906588|PMID:9090526|PMID:9192271 10051467 CV193437 NM_000487.6(ARSA):c.656G>A (p.Arg219His) variant DOID:10581 metachromatic leukodystrophy IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:18693274|PMID:26462614|PMID:28492532|PMID:37480112 10051468 CV193440 NM_000512.5(GALNS):c.319+15G>T variant DOID:0111391 mucopolysaccharidosis IVA IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A PMID:28492532 10051469 CV193442 NM_000528.4(MAN2B1):c.295T>C (p.Tyr99His) variant DOID:3413 alpha-mannosidosis IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: alpha-Mannosidosis PMID:22161967 10051472 CV193448 NM_000742.4(CHRNA2):c.227C>T (p.Pro76Leu) variant DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 10051472 CV193448 NM_000742.4(CHRNA2):c.227C>T (p.Pro76Leu) variant DOID:630 genetic disease IAGP D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10051473 CV193449 NM_000784.4(CYP27A1):c.646+4C>T variant DOID:4810 cerebrotendinous xanthomatosis IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Cholestanol storage disease PMID:28492532 10051474 CV193450 NM_001127644.2(GABRA1):c.27C>A (p.Asp9Glu) variant DOID:0080431 developmental and epileptic encephalopathy 19 IAGP D RGD:8554872 20250821 ClinVar ClinVar Annotator: match by term: GABRA1-related disorder PMID:25741868|PMID:28492532 10051474 CV193450 NM_001127644.2(GABRA1):c.27C>A (p.Asp9Glu) variant DOID:630 genetic disease IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10051474 CV193450 NM_001127644.2(GABRA1):c.27C>A (p.Asp9Glu) variant DOID:9009305 Idiopathic Generalized Epilepsy 13 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13 PMID:25741868|PMID:28492532 10051474 CV193450 NM_001127644.2(GABRA1):c.27C>A (p.Asp9Glu) variant DOID:9009315 Idiopathic Generalized Epilepsy IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:25741868|PMID:28492532 10051475 CV193451 NM_001003722.2(GLE1):c.394G>A (p.Val132Ile) variant DOID:630 genetic disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10051476 CV193452 NM_001004127.3(ALG11):c.323A>G (p.Asn108Ser) variant DOID:0080567 congenital disorder of glycosylation Ip IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: ALG11-congenital disorder of glycosylation PMID:25741868|PMID:28492532 10051477 CV193453 NM_001004127.3(ALG11):c.802C>A (p.Leu268Ile) variant DOID:0080567 congenital disorder of glycosylation Ip IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1P PMID:25741868 10051478 CV193454 NM_001004334.4(GPR179):c.959G>A (p.Arg320Gln) variant DOID:0110869 congenital stationary night blindness 1E IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness, type 1E PMID:25741868|PMID:28492532 10051479 CV193458 NM_001015880.2(PAPSS2):c.202T>C (p.Ser68Pro) variant DOID:630 genetic disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10051480 CV193460 NM_001017420.3(ESCO2):c.331A>G (p.Lys111Glu) variant DOID:5325 Roberts syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Roberts-SC phocomelia syndrome PMID:25741868|PMID:28492532 10051484 CV193472 NM_001100.4(ACTA1):c.142G>A (p.Gly48Ser) variant DOID:9007077 Actin-Accumulation Myopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy PMID:19562689|PMID:24642510|PMID:25470062|PMID:26172852|PMID:28492532 10051485 CV193474 NM_001112704.2(VAX1):c.883A>G (p.Met295Val) variant DOID:0111804 syndromic microphthalmia 11 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Microphthalmia, syndromic 11 PMID:28492532 10051487 CV193476 NM_001130823.3(DNMT1):c.150C>T (p.His50=) variant DOID:0070158 hereditary sensory neuropathy type 1E IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Hereditary sensory neuropathy type IE PMID:25741868|PMID:28492532 10051489 CV193478 NM_001170629.2(CHD8):c.1407T>C (p.Ile469=) variant DOID:12849 autistic disorder IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: CHD8-related disorder PMID:28492532 10051489 CV193478 NM_001170629.2(CHD8):c.1407T>C (p.Ile469=) variant DOID:630 genetic disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10051491 CV193482 NM_001184880.2(PCDH19):c.2496C>T (p.Phe832=) variant DOID:0060848 developmental and epileptic encephalopathy 9 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9 PMID:28492532 10051492 CV193486 NM_001360.3(DHCR7):c.28C>G (p.Pro10Ala) variant DOID:14692 Smith-Lemli-Opitz syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Smith-Lemli-Opitz syndrome PMID:25741868|PMID:28492532 10051492 CV193486 NM_001360.3(DHCR7):c.28C>G (p.Pro10Ala) variant DOID:630 genetic disease IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10051494 CV193490 NM_001848.3(COL6A1):c.324C>T (p.Gly108=) variant DOID:0050663 Bethlem myopathy IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Myopathy, benign congenital, with contractures PMID:25741868|PMID:28492532 10051494 CV193490 NM_001848.3(COL6A1):c.324C>T (p.Gly108=) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:25741868|PMID:28492532 10051496 CV193494 NM_001909.5(CTSD):c.267C>G (p.Pro89=) variant DOID:14503 neuronal ceroid lipofuscinosis IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 10051496 CV193494 NM_001909.5(CTSD):c.267C>G (p.Pro89=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10051500 CV193502 NM_002381.5(MATN3):c.792G>A (p.Ala264=) variant DOID:0070299 multiple epiphyseal dysplasia 5 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: MICROEPIPHYSEAL DYSPLASIA, BILATERAL HEREDITARY PMID:28492532 10051503 CV193507 NM_002427.4(MMP13):c.438C>T (p.Ser146=) variant DOID:0080030 spondyloepimetaphyseal dysplasia, Missouri type IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Missouri type PMID:28492532 10051503 CV193507 NM_002427.4(MMP13):c.438C>T (p.Ser146=) variant DOID:9001193 Metaphyseal Anadysplasia IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Metaphyseal anadysplasia PMID:28492532 10051505 CV193509 NM_002435.3(MPI):c.303C>T (p.Leu101=) variant DOID:0080554 congenital disorder of glycosylation Ib IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Saguenay Lac Saint Jean syndrome PMID:25741868|PMID:28492532 10051507 CV193512 NM_002618.4(PEX13):c.791G>C (p.Ser264Thr) variant DOID:0080485 peroxisome biogenesis disorder 11A IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11A (Zellweger) PMID:25741868|PMID:28492532 10051508 CV193513 NM_002618.4(PEX13):c.893T>C (p.Met298Thr) variant DOID:0080485 peroxisome biogenesis disorder 11A IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11A PMID:25741868|PMID:28492532 10051511 CV193518 NM_003124.5(SPR):c.629G>A (p.Arg210Gln) variant DOID:543 dystonia IAGP D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Dystonia PMID:28492532 10051512 CV193519 NM_003289.4(TPM2):c.241-7C>A variant DOID:0111596 distal arthrogryposis type 1 IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE I PMID:25741868|PMID:28492532 10051512 CV193519 NM_003289.4(TPM2):c.241-7C>A variant DOID:0111597 distal arthrogryposis type 1A IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A PMID:25741868|PMID:28492532 10051513 CV193520 NM_003322.6(TULP1):c.184C>T (p.Pro62Ser) variant DOID:0110189 Leber congenital amaurosis 15 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 15 PMID:28492532 10051513 CV193520 NM_003322.6(TULP1):c.184C>T (p.Pro62Ser) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532 10051513 CV193520 NM_003322.6(TULP1):c.184C>T (p.Pro62Ser) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10051514 CV193521 NM_003332.4(TYROBP):c.163G>T (p.Val55Leu) variant DOID:0090112 Nasu-Hakola disease IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 PMID:25741868|PMID:28492532 10051515 CV193522 NM_003361.4(UMOD):c.539T>C (p.Leu180Pro) variant DOID:0061122 autosomal dominant tubulointerstitial kidney disease 1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Uromodulin-associated kidney disease PMID:25741868 10051516 CV193527 NM_003816.3(ADAM9):c.226G>A (p.Glu76Lys) variant DOID:0111020 cone-rod dystrophy 9 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 9 PMID:25741868|PMID:28492532 10051518 CV193530 NM_003923.3(FOXH1):c.499T>C (p.Phe167Leu) variant DOID:4621 holoprosencephaly IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Holoprosencephaly sequence PMID:28492532 10051518 CV193530 NM_003923.3(FOXH1):c.499T>C (p.Phe167Leu) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10051519 CV193535 NM_004006.3(DMD):c.94-3C>T variant DOID:11723 Duchenne muscular dystrophy IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, pseudohypertrophic progressive, Duchenne type PMID:28492532 10051520 CV193537 NM_004273.5(CHST3):c.311A>G (p.Glu104Gly) variant DOID:0050813 spondyloepiphyseal dysplasia with congenital joint dislocations IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia with congenital joint dislocations PMID:28492532 10051521 CV193540 NM_004281.4(BAG3):c.892G>A (p.Val298Met) variant DOID:0080097 myofibrillar myopathy 6 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 6 PMID:21353195|PMID:25741868|PMID:28492532|PMID:28798025 10051521 CV193540 NM_004281.4(BAG3):c.892G>A (p.Val298Met) variant DOID:0110448 dilated cardiomyopathy 1HH IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1HH PMID:21353195|PMID:25741868|PMID:28492532|PMID:28798025 10051522 CV193541 NM_004369.4(COL6A3):c.410G>A (p.Arg137Gln) variant DOID:0050663 Bethlem myopathy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, benign congenital PMID:25741868|PMID:28492532 10051522 CV193541 NM_004369.4(COL6A3):c.410G>A (p.Arg137Gln) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:25741868|PMID:28492532 10051523 CV193542 NM_004393.6(DAG1):c.1360C>T (p.Arg454Trp) variant DOID:0110293 autosomal recessive limb-girdle muscular dystrophy type 2P IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P PMID:25741868|PMID:28492532 10051524 CV193543 NM_004393.6(DAG1):c.1436G>A (p.Arg479His) variant DOID:0110293 autosomal recessive limb-girdle muscular dystrophy type 2P IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 PMID:28492532 10051524 CV193543 NM_004393.6(DAG1):c.1436G>A (p.Arg479His) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10051525 CV193544 NM_004393.6(DAG1):c.965C>T (p.Thr322Ile) variant DOID:0110293 autosomal recessive limb-girdle muscular dystrophy type 2P IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P PMID:25741868|PMID:26467025|PMID:28492532 10051526 CV193546 NM_004393.6(DAG1):c.498G>A (p.Ser166=) variant DOID:0110293 autosomal recessive limb-girdle muscular dystrophy type 2P IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P PMID:25741868|PMID:28492532 10051527 CV193547 NM_004393.6(DAG1):c.2196G>A (p.Pro732=) variant DOID:0110293 autosomal recessive limb-girdle muscular dystrophy type 2P IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 PMID:28492532 10051528 CV193548 NM_004393.6(DAG1):c.735G>A (p.Pro245=) variant DOID:0110293 autosomal recessive limb-girdle muscular dystrophy type 2P IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 PMID:25741868|PMID:28492532 10051529 CV193549 NM_004393.6(DAG1):c.599C>G (p.Thr200Ser) variant DOID:0110293 autosomal recessive limb-girdle muscular dystrophy type 2P IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 PMID:25741868|PMID:26467025|PMID:28492532 10051530 CV193551 NM_004463.3(FGD1):c.622T>C (p.Ser208Pro) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10051532 CV193553 NM_004560.4(ROR2):c.298G>A (p.Ala100Thr) variant DOID:0110969 brachydactyly type B1 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Brachydactyly type B1 PMID:25741868|PMID:28492532 10051533 CV193554 NM_004560.4(ROR2):c.372C>T (p.Asp124=) variant DOID:0060764 autosomal recessive Robinow syndrome IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Robinow syndrome, autosomal recessive PMID:25741868|PMID:28492532 10051533 CV193554 NM_004560.4(ROR2):c.372C>T (p.Asp124=) variant DOID:0110969 brachydactyly type B1 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Brachydactyly type B1 PMID:25741868|PMID:28492532 10051534 CV193555 NM_001005242.3(PKP2):c.789G>A (p.Thr263=) variant DOID:0050431 arrhythmogenic right ventricular cardiomyopathy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:25741868|PMID:28492532 10051534 CV193555 NM_001005242.3(PKP2):c.789G>A (p.Thr263=) variant DOID:0110077 arrhythmogenic right ventricular dysplasia 9 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 PMID:25741868|PMID:28492532 10051535 CV193558 NM_004813.4(PEX16):c.204G>T (p.Glu68Asp) variant DOID:0050444 infantile Refsum disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:28492532 10051535 CV193558 NM_004813.4(PEX16):c.204G>T (p.Glu68Asp) variant DOID:0080483 peroxisome biogenesis disorder 8A IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 8A PMID:28492532 10051536 CV193560 NM_004820.5(CYP7B1):c.835G>A (p.Asp279Asn) variant DOID:607 paraplegia IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:25741868|PMID:28492532 10051539 CV193564 NM_001110792.2(MECP2):c.90C>G (p.Leu30=) variant DOID:0111932 severe congenital encephalopathy due to MECP2 mutation IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:28492532 10051539 CV193564 NM_001110792.2(MECP2):c.90C>G (p.Leu30=) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:28492532 10051540 CV193566 NM_005120.3(MED12):c.381G>A (p.Thr127=) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:28492532 10051540 CV193566 NM_005120.3(MED12):c.381G>A (p.Thr127=) variant DOID:14711 FG syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: FG syndrome PMID:28492532 10051541 CV193567 NM_005159.5(ACTC1):c.188A>G (p.Lys63Arg) variant DOID:0110317 hypertrophic cardiomyopathy 11 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 11 PMID:28492532 10051544 CV193571 NM_005476.7(GNE):c.466T>C (p.Tyr156His) variant DOID:0080718 GNE myopathy IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: GNE myopathy PMID:24796702|PMID:25741868|PMID:26980148|PMID:28320138|PMID:28492532|PMID:31064749 10051544 CV193571 NM_005476.7(GNE):c.466T>C (p.Tyr156His) variant DOID:1588 thrombocytopenia IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Thrombocytopenia PMID:24796702|PMID:25741868|PMID:26980148|PMID:28320138|PMID:28492532|PMID:31064749 10051545 CV193573 NM_005506.4(SCARB2):c.382C>G (p.Pro128Ala) variant DOID:0111128 focal segmental glomerulosclerosis 1 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Focal sclerosis with hyalinosis PMID:25741868|PMID:26467025|PMID:28492532 10051545 CV193573 NM_005506.4(SCARB2):c.382C>G (p.Pro128Ala) variant DOID:0111444 progressive myoclonus epilepsy 4 IAGP D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 4, with or without renal failure PMID:25741868|PMID:26467025|PMID:28492532 10051545 CV193573 NM_005506.4(SCARB2):c.382C>G (p.Pro128Ala) variant DOID:1312 focal segmental glomerulosclerosis IAGP D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Focal segmental glomerulosclerosis PMID:25741868|PMID:26467025|PMID:28492532 10051545 CV193573 NM_005506.4(SCARB2):c.382C>G (p.Pro128Ala) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 10051545 CV193573 NM_005506.4(SCARB2):c.382C>G (p.Pro128Ala) variant DOID:891 progressive myoclonus epilepsy IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:25741868|PMID:26467025|PMID:28492532 10051545 CV193573 NM_005506.4(SCARB2):c.382C>G (p.Pro128Ala) variant DOID:9005154 Myoclonic Epilepsies IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Myoclonus epilepsy PMID:25741868|PMID:26467025|PMID:28492532 10051546 CV193574 NM_005670.4(EPM2A):c.680C>T (p.Ala227Val) variant DOID:0070660 Lafora disease 1 IAGP D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: EPM2A-related condition PMID:25741868|PMID:26467025|PMID:28492532 10051546 CV193574 NM_005670.4(EPM2A):c.680C>T (p.Ala227Val) variant DOID:1059 intellectual disability IAGP D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:26467025|PMID:28492532 10051546 CV193574 NM_005670.4(EPM2A):c.680C>T (p.Ala227Val) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 10051546 CV193574 NM_005670.4(EPM2A):c.680C>T (p.Ala227Val) variant DOID:891 progressive myoclonus epilepsy IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:25741868|PMID:26467025|PMID:28492532 10051546 CV193574 NM_005670.4(EPM2A):c.680C>T (p.Ala227Val) variant DOID:9005154 Myoclonic Epilepsies IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Myoclonus epilepsy PMID:25741868|PMID:26467025|PMID:28492532 10051547 CV193575 NM_005670.4(EPM2A):c.600G>T (p.Gln200His) variant DOID:891 progressive myoclonus epilepsy IAGP D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532 10051549 CV193578 NM_153676.4(USH1C):c.188G>A (p.Arg63Gln) variant DOID:0110830 Usher syndrome type 1C IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1C PMID:23967202|PMID:25741868|PMID:28492532|PMID:30245029 10051550 CV193580 NM_005802.5(TOPORS):c.2161A>G (p.Arg721Gly) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532 10051553 CV193583 NM_005802.5(TOPORS):c.2862A>C (p.Thr954=) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532 10051554 CV193584 NM_005802.5(TOPORS):c.2344A>G (p.Thr782Ala) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:18509552|PMID:28492532 10051556 CV193586 NM_005802.5(TOPORS):c.2018G>T (p.Arg673Leu) variant DOID:0110391 retinitis pigmentosa 31 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 31 PMID:25741868|PMID:28166811|PMID:28492532 10051556 CV193586 NM_005802.5(TOPORS):c.2018G>T (p.Arg673Leu) variant DOID:630 genetic disease IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28166811|PMID:28492532 10051558 CV193589 NM_005902.4(SMAD3):c.440C>T (p.Pro147Leu) variant DOID:0070237 Loeys-Dietz syndrome 3 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome, type 1C PMID:25741868|PMID:28492532 10051558 CV193589 NM_005902.4(SMAD3):c.440C>T (p.Pro147Leu) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10051558 CV193589 NM_005902.4(SMAD3):c.440C>T (p.Pro147Leu) variant DOID:65 connective tissue disease IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 10051559 CV193592 NM_006031.6(PCNT):c.405C>T (p.Val135=) variant DOID:0060609 microcephalic osteodysplastic primordial dwarfism type II IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: PCNT-related condition PMID:28492532 10051560 CV193593 NM_006261.5(PROP1):c.425C>T (p.Ala142Val) variant DOID:0061020 combined pituitary hormone deficiency 2 IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 2 PMID:28492532|PMID:32870266|PMID:36407308|PMID:38096238 10051560 CV193593 NM_006261.5(PROP1):c.425C>T (p.Ala142Val) variant DOID:13938 amenorrhea IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Amenorrhea PMID:28492532|PMID:32870266|PMID:36407308|PMID:38096238 10051561 CV193594 NM_006261.5(PROP1):c.456T>C (p.Ala152=) variant DOID:0061020 combined pituitary hormone deficiency 2 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 2 PMID:28492532 10051563 CV193599 NM_006493.4(CLN5):c.415T>C (p.Phe139Leu) variant DOID:0110728 neuronal ceroid lipofuscinosis 5 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 5 PMID:25741868|PMID:28492532|PMID:33507209 10051563 CV193599 NM_006493.4(CLN5):c.415T>C (p.Phe139Leu) variant DOID:14503 neuronal ceroid lipofuscinosis IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:25741868|PMID:28492532|PMID:33507209 10051565 CV193601 NM_006517.5(SLC16A2):c.604G>A (p.Gly202Arg) variant DOID:0050631 Allan-Herndon-Dudley syndrome IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Allan-Herndon-Dudley syndrome PMID:30369548|PMID:30497070|PMID:32559475 10051566 CV193603 NM_001110219.3(GJB6):c.177A>G (p.Gly59=) variant DOID:0110475 autosomal recessive nonsyndromic deafness 1A IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1A PMID:28492532 10051566 CV193603 NM_001110219.3(GJB6):c.177A>G (p.Gly59=) variant DOID:0110476 autosomal recessive nonsyndromic deafness 1B IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1b PMID:28492532 10051566 CV193603 NM_001110219.3(GJB6):c.177A>G (p.Gly59=) variant DOID:0110565 autosomal dominant nonsyndromic deafness 3B IAGP D RGD:8554872 20250723 ClinVar ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 3B PMID:28492532 10051566 CV193603 NM_001110219.3(GJB6):c.177A>G (p.Gly59=) variant DOID:14693 Clouston syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia syndrome PMID:28492532 10051566 CV193603 NM_001110219.3(GJB6):c.177A>G (p.Gly59=) variant DOID:2121 ectodermal dysplasia IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia PMID:28492532 10051567 CV193605 NM_006915.3(RP2):c.844C>T (p.Arg282Trp) variant DOID:0110415 retinitis pigmentosa 2 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 2 PMID:10862093|PMID:10937588|PMID:11992260|PMID:22334370|PMID:24033266|PMID:25741868|PMID:28492532 10051567 CV193605 NM_006915.3(RP2):c.844C>T (p.Arg282Trp) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:10862093|PMID:10937588|PMID:11992260|PMID:22334370|PMID:24033266|PMID:25741868|PMID:28492532 10051568 CV193607 NM_006946.4(SPTBN2):c.229C>T (p.Arg77Trp) variant DOID:630 genetic disease IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10051569 CV193612 NM_001077365.2(POMT1):c.129C>T (p.Asp43=) variant DOID:0110297 autosomal recessive limb-girdle muscular dystrophy type 2K IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 PMID:25741868|PMID:28492532 10051571 CV193618 NM_014140.4(SMARCAL1):c.675G>A (p.Lys225=) variant DOID:0060490 Schimke immuno-osseous dysplasia IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Schimke immuno-osseous dysplasia PMID:28492532 10051572 CV193619 NM_014140.4(SMARCAL1):c.340C>G (p.Arg114Gly) variant DOID:0060490 Schimke immuno-osseous dysplasia IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Schimke immuno-osseous dysplasia PMID:28492532 10051573 CV193620 NM_014141.6(CNTNAP2):c.341G>A (p.Arg114Gln) variant DOID:0090130 cortical dysplasia-focal epilepsy syndrome IAGP D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 1 PMID:18179895|PMID:25741868|PMID:28492532 10051573 CV193620 NM_014141.6(CNTNAP2):c.341G>A (p.Arg114Gln) variant DOID:12849 autistic disorder IAGP D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: AUTISM, SUSCEPTIBILITY TO, 15 PMID:18179895|PMID:25741868|PMID:28492532 10051573 CV193620 NM_014141.6(CNTNAP2):c.341G>A (p.Arg114Gln) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18179895|PMID:25741868|PMID:28492532 10051574 CV193621 NM_014141.6(CNTNAP2):c.273T>C (p.Asn91=) variant DOID:0090130 cortical dysplasia-focal epilepsy syndrome IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 1 PMID:28492532 10051576 CV193623 NM_014336.5(AIPL1):c.318G>A (p.Gln106=) variant DOID:0110332 Leber congenital amaurosis 4 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 4 PMID:28492532 10051578 CV193625 NM_014336.5(AIPL1):c.305G>A (p.Arg102Gln) variant DOID:0110332 Leber congenital amaurosis 4 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 4 PMID:28492532 10051578 CV193625 NM_014336.5(AIPL1):c.305G>A (p.Arg102Gln) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532 10051579 CV193627 NM_014425.5(INVS):c.114T>C (p.Ser38=) variant DOID:0111112 nephronophthisis 1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:28492532 10051579 CV193627 NM_014425.5(INVS):c.114T>C (p.Ser38=) variant DOID:0111113 nephronophthisis 2 IAGP D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: INVS-related condition PMID:28492532 10051579 CV193627 NM_014425.5(INVS):c.114T>C (p.Ser38=) variant DOID:12712 nephronophthisis IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:28492532 10051580 CV193629 NM_014795.4(ZEB2):c.219C>T (p.His73=) variant DOID:0060485 Mowat-Wilson syndrome IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Mowat-Wilson syndrome PMID:25741868|PMID:28492532 10051580 CV193629 NM_014795.4(ZEB2):c.219C>T (p.His73=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10051581 CV193630 NM_015102.5(NPHP4):c.267C>T (p.Ile89=) variant DOID:0111112 nephronophthisis 1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:28492532 10051581 CV193630 NM_015102.5(NPHP4):c.267C>T (p.Ile89=) variant DOID:0111115 nephronophthisis 4 IAGP D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: NPHP4-related condition PMID:28492532 10051581 CV193630 NM_015102.5(NPHP4):c.267C>T (p.Ile89=) variant DOID:12712 nephronophthisis IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:28492532 10051582 CV193631 NM_015102.5(NPHP4):c.279G>T (p.Glu93Asp) variant DOID:0111115 nephronophthisis 4 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephronophthisis 4 PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 10051582 CV193631 NM_015102.5(NPHP4):c.279G>T (p.Glu93Asp) variant DOID:12712 nephronophthisis IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 10051583 CV193632 NM_015102.5(NPHP4):c.271T>C (p.Phe91Leu) variant DOID:0111112 nephronophthisis 1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:15776426|PMID:21068128|PMID:21546380|PMID:22550138|PMID:24033266|PMID:25741868|PMID:28492532 10051583 CV193632 NM_015102.5(NPHP4):c.271T>C (p.Phe91Leu) variant DOID:0111115 nephronophthisis 4 IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Nephronophthisis 4 PMID:15776426|PMID:21068128|PMID:21546380|PMID:22550138|PMID:24033266|PMID:25741868|PMID:28492532 10051583 CV193632 NM_015102.5(NPHP4):c.271T>C (p.Phe91Leu) variant DOID:12712 nephronophthisis IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:15776426|PMID:21068128|PMID:21546380|PMID:22550138|PMID:24033266|PMID:25741868|PMID:28492532 10051583 CV193632 NM_015102.5(NPHP4):c.271T>C (p.Phe91Leu) variant DOID:9000511 Senior-Loken Syndrome 4 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 4 PMID:15776426|PMID:21068128|PMID:21546380|PMID:22550138|PMID:24033266|PMID:25741868|PMID:28492532 10051585 CV193636 NM_016729.3(FOLR1):c.215A>G (p.Gln72Arg) variant DOID:0050719 cerebral folate receptor alpha deficiency IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency PMID:28492532 10051585 CV193636 NM_016729.3(FOLR1):c.215A>G (p.Gln72Arg) variant DOID:630 genetic disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10051586 CV193639 NM_017780.4(CHD7):c.2067G>A (p.Thr689=) variant DOID:0050834 CHARGE syndrome IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Hall-Hittner syndrome PMID:24033266|PMID:25741868|PMID:28492532 10051586 CV193639 NM_017780.4(CHD7):c.2067G>A (p.Thr689=) variant DOID:0090084 hypogonadotropic hypogonadism 5 with or without anosmia IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 5 with or without anosmia PMID:24033266|PMID:25741868|PMID:28492532 10051586 CV193639 NM_017780.4(CHD7):c.2067G>A (p.Thr689=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 10051587 CV193642 NM_017882.3(CLN6):c.214G>C (p.Glu72Gln) variant DOID:0110730 neuronal ceroid lipofuscinosis 6B IAGP D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 4A PMID:12815591|PMID:14997940|PMID:25741868|PMID:26467025|PMID:27535533|PMID:28492532|PMID:30285654 10051587 CV193642 NM_017882.3(CLN6):c.214G>C (p.Glu72Gln) variant DOID:14503 neuronal ceroid lipofuscinosis IAGP D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:12815591|PMID:14997940|PMID:25741868|PMID:26467025|PMID:27535533|PMID:28492532|PMID:30285654 10051587 CV193642 NM_017882.3(CLN6):c.214G>C (p.Glu72Gln) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12815591|PMID:14997940|PMID:25741868|PMID:26467025|PMID:27535533|PMID:28492532|PMID:30285654 10051590 CV193646 NM_018136.5(ASPM):c.1141G>T (p.Asp381Tyr) variant DOID:0070280 primary autosomal recessive microcephaly 5 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Microcephaly 5, primary, autosomal recessive PMID:25741868|PMID:28492532 10051590 CV193646 NM_018136.5(ASPM):c.1141G>T (p.Asp381Tyr) variant DOID:630 genetic disease IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10051591 CV193647 NM_018136.5(ASPM):c.1304C>T (p.Ser435Leu) variant DOID:0070280 primary autosomal recessive microcephaly 5 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Microcephaly 5, primary, autosomal recessive PMID:25741868|PMID:28492532 10051591 CV193647 NM_018136.5(ASPM):c.1304C>T (p.Ser435Leu) variant DOID:630 genetic disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10051593 CV193649 NM_018319.4(TDP1):c.208T>A (p.Ser70Thr) variant DOID:0090115 spinocerebellar ataxia with axonal neuropathy 1 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 PMID:25741868|PMID:26467025|PMID:29641532 10051595 CV193651 NM_018714.3(COG1):c.655G>C (p.Glu219Gln) variant DOID:0070259 congenital disorder of glycosylation type IIg IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2G PMID:28492532 10051595 CV193651 NM_018714.3(COG1):c.655G>C (p.Glu219Gln) variant DOID:630 genetic disease IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10051596 CV193652 NM_170784.3(MKKS):c.812C>T (p.Ala271Val) variant DOID:0111255 McKusick-Kaufman syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: McKusick-Kaufman syndrome PMID:25741868 10051597 CV193654 NM_018941.4(CLN8):c.806A>T (p.Glu269Val) variant DOID:0110723 neuronal ceroid lipofuscinosis 8 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 8 PMID:21990111|PMID:25741868|PMID:27884173|PMID:28454995|PMID:28468868|PMID:28492532 10051597 CV193654 NM_018941.4(CLN8):c.806A>T (p.Glu269Val) variant DOID:0110724 neuronal ceroid lipofuscinosis 8 northern epilepsy variant IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant PMID:21990111|PMID:25741868|PMID:27884173|PMID:28454995|PMID:28468868|PMID:28492532 10051597 CV193654 NM_018941.4(CLN8):c.806A>T (p.Glu269Val) variant DOID:14503 neuronal ceroid lipofuscinosis IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:21990111|PMID:25741868|PMID:27884173|PMID:28454995|PMID:28468868|PMID:28492532 10051597 CV193654 NM_018941.4(CLN8):c.806A>T (p.Glu269Val) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21990111|PMID:25741868|PMID:27884173|PMID:28454995|PMID:28468868|PMID:28492532 10051599 CV193660 NM_020631.6(PLEKHG5):c.73C>T (p.Arg25Trp) variant DOID:0111213 autosomal recessive distal hereditary motor neuronopathy 4 IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 4 PMID:25741868|PMID:28492532 10051600 CV193662 NM_020800.3(IFT80):c.60G>A (p.Val20=) variant DOID:0050592 asphyxiating thoracic dystrophy IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:28492532 10051600 CV193662 NM_020800.3(IFT80):c.60G>A (p.Val20=) variant DOID:0110086 asphyxiating thoracic dystrophy 2 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 2 PMID:28492532 10051601 CV193663 NM_020822.3(KCNT1):c.299G>A (p.Arg100Gln) variant DOID:0080439 developmental and epileptic encephalopathy 14 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:28492532 10051602 CV193665 NM_021072.4(HCN1):c.990G>C (p.Trp330Cys) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532|PMID:29056246 10051604 CV193668 NM_021615.5(CHST6):c.993G>T (p.Gln331His) variant DOID:2565 macular corneal dystrophy IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Macular corneal dystrophy Type I PMID:15953452|PMID:28492532 10051605 CV193669 NM_021939.4(FKBP10):c.504C>T (p.Pro168=) variant DOID:0110351 osteogenesis imperfecta type 11 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta, type XI PMID:28492532 10051607 CV193671 NM_022356.4(P3H1):c.756C>T (p.Tyr252=) variant DOID:0110336 osteogenesis imperfecta type 8 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 8 PMID:28492532 10051609 CV193677 NM_001191061.2(SLC25A22):c.21-3C>T variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:17576681|PMID:28492532|PMID:9536098 10051610 CV193678 NM_024757.5(EHMT1):c.91C>T (p.Pro31Ser) variant DOID:0060352 Kleefstra syndrome 1 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:28492532|PMID:29758562 10051610 CV193678 NM_024757.5(EHMT1):c.91C>T (p.Pro31Ser) variant DOID:630 genetic disease IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:29758562 10051611 CV193679 NM_024757.5(EHMT1):c.211A>G (p.Lys71Glu) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10051612 CV193680 NM_024757.5(EHMT1):c.589G>A (p.Asp197Asn) variant DOID:0060352 Kleefstra syndrome 1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:25741868|PMID:28492532|PMID:39013458 10051612 CV193680 NM_024757.5(EHMT1):c.589G>A (p.Asp197Asn) variant DOID:630 genetic disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:39013458 10051614 CV193683 NM_024757.5(EHMT1):c.183C>T (p.Ser61=) variant DOID:0060352 Kleefstra syndrome 1 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:25741868|PMID:28492532 10051615 CV193684 NM_024757.5(EHMT1):c.298G>A (p.Asp100Asn) variant DOID:0060352 Kleefstra syndrome 1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:28492532 10051615 CV193684 NM_024757.5(EHMT1):c.298G>A (p.Asp100Asn) variant DOID:630 genetic disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10051617 CV193686 NM_024757.5(EHMT1):c.86-5G>A variant DOID:0060352 Kleefstra syndrome 1 IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:25741868|PMID:28492532 10051619 CV193690 NM_030665.4(RAI1):c.1941C>T (p.Ser647=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 10051620 CV193691 NM_030665.4(RAI1):c.1937A>C (p.His646Pro) variant DOID:0060768 Smith-Magenis syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: RAI1-related condition PMID:28492532 10051621 CV193692 NM_030665.4(RAI1):c.1499C>T (p.Pro500Leu) variant DOID:0060768 Smith-Magenis syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: RAI1-related condition PMID:28492532 10051621 CV193692 NM_030665.4(RAI1):c.1499C>T (p.Pro500Leu) variant DOID:630 genetic disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10051623 CV193694 NM_030665.4(RAI1):c.4676G>A (p.Arg1559Gln) variant DOID:0060768 Smith-Magenis syndrome IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: RAI1-related condition PMID:25741868|PMID:28492532 10051623 CV193694 NM_030665.4(RAI1):c.4676G>A (p.Arg1559Gln) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10051625 CV193696 NM_030665.4(RAI1):c.3726_3731dup (p.1242_1243RS[3]) variant DOID:0060768 Smith-Magenis syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: RAI1-related condition PMID:28492532 10051625 CV193696 NM_030665.4(RAI1):c.3726_3731dup (p.1242_1243RS[3]) variant DOID:630 genetic disease IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10051626 CV193697 NM_030665.4(RAI1):c.1740G>A (p.Pro580=) variant DOID:0060768 Smith-Magenis syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: RAI1-related condition PMID:28492532 10051628 CV193699 NM_030665.4(RAI1):c.2422G>A (p.Gly808Arg) variant DOID:0060768 Smith-Magenis syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: RAI1-related condition PMID:28492532 10051628 CV193699 NM_030665.4(RAI1):c.2422G>A (p.Gly808Arg) variant DOID:630 genetic disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10051629 CV193700 NM_030665.4(RAI1):c.5379C>T (p.Gly1793=) variant DOID:0060768 Smith-Magenis syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: RAI1-related condition PMID:28492532 10051629 CV193700 NM_030665.4(RAI1):c.5379C>T (p.Gly1793=) variant DOID:630 genetic disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10051632 CV193704 NM_030665.4(RAI1):c.4616G>A (p.Arg1539His) variant DOID:630 genetic disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10051633 CV193705 NM_030665.4(RAI1):c.1444A>G (p.Ser482Gly) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10051635 CV193708 NM_030665.4(RAI1):c.660C>T (p.Ser220=) variant DOID:0060768 Smith-Magenis syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: RAI1-related condition PMID:28492532 10051636 CV193710 NM_030665.4(RAI1):c.4043C>T (p.Ala1348Val) variant DOID:0060768 Smith-Magenis syndrome IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: RAI1-related condition PMID:25741868|PMID:28492532 10051636 CV193710 NM_030665.4(RAI1):c.4043C>T (p.Ala1348Val) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10051638 CV193712 NM_030665.4(RAI1):c.4963G>A (p.Gly1655Ser) variant DOID:0060768 Smith-Magenis syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Smith-Magenis syndrome PMID:28492532 10051642 CV193717 NM_030665.4(RAI1):c.5036C>T (p.Ala1679Val) variant DOID:0060768 Smith-Magenis syndrome IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: RAI1-related condition PMID:25741868|PMID:28492532 10051642 CV193717 NM_030665.4(RAI1):c.5036C>T (p.Ala1679Val) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10051644 CV193721 NM_031220.4(PITPNM3):c.216C>T (p.Asp72=) variant DOID:0111010 cone-rod dystrophy 5 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 5 PMID:25741868|PMID:28492532 10051645 CV193722 NM_031433.4(MFRP):c.159T>C (p.Gly53=) variant DOID:0060837 isolated microphthalmia 5 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen PMID:28492532 10051645 CV193722 NM_031433.4(MFRP):c.159T>C (p.Gly53=) variant DOID:8466 retinal degeneration IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Retinal degeneration PMID:28492532 10051646 CV193723 NM_031433.4(MFRP):c.160C>G (p.Arg54Gly) variant DOID:0060837 isolated microphthalmia 5 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Microphthalmia, isolated 5 PMID:28492532 10051646 CV193723 NM_031433.4(MFRP):c.160C>G (p.Arg54Gly) variant DOID:0060869 late-onset retinal degeneration IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Late-onset retinal degeneration PMID:28492532 10051646 CV193723 NM_031433.4(MFRP):c.160C>G (p.Arg54Gly) variant DOID:8466 retinal degeneration IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Retinal degeneration PMID:28492532 10051647 CV193724 NM_032119.4(ADGRV1):c.267C>T (p.Ala89=) variant DOID:0110839 Usher syndrome type 2C IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Usher syndrome, type 2C PMID:28492532 10051648 CV193725 NM_032119.4(ADGRV1):c.357+8C>T variant DOID:0111305 familial febrile seizures 4 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: ADGRV1-related disorder PMID:28492532 10051649 CV193726 NM_032273.4(TMEM126A):c.154A>G (p.Ser52Gly) variant DOID:0111437 optic atrophy 7 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Optic atrophy 7 PMID:25741868|PMID:28492532 10051650 CV193727 NM_032273.4(TMEM126A):c.87G>C (p.Arg29Ser) variant DOID:0111437 optic atrophy 7 IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Optic atrophy 7 PMID:28492532 10051651 CV193728 NM_032382.5(COG8):c.597C>T (p.Asn199=) variant DOID:0070260 congenital disorder of glycosylation type IIh IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2H PMID:28492532 10051652 CV193729 NM_032382.5(COG8):c.1017C>T (p.Gly339=) variant DOID:0070260 congenital disorder of glycosylation type IIh IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2H PMID:28492532 10051653 CV193730 NM_032575.3(GLIS2):c.522+10G>A variant DOID:12712 nephronophthisis IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:28492532 10051654 CV193731 NM_033028.5(BBS4):c.137A>G (p.Lys46Arg) variant DOID:0110123 Bardet-Biedl syndrome 1 IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 PMID:20177705|PMID:20498079|PMID:25741868|PMID:28492532 10051654 CV193731 NM_033028.5(BBS4):c.137A>G (p.Lys46Arg) variant DOID:0110126 Bardet-Biedl syndrome 4 IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 4 PMID:20177705|PMID:20498079|PMID:25741868|PMID:28492532 10051654 CV193731 NM_033028.5(BBS4):c.137A>G (p.Lys46Arg) variant DOID:1935 Bardet-Biedl syndrome IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:20177705|PMID:20498079|PMID:25741868|PMID:28492532 10051655 CV193732 NM_130839.5(UBE3A):c.1032T>C (p.Ile344=) variant DOID:1932 Angelman syndrome IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Angelman syndrome PMID:28492532 10051655 CV193732 NM_130839.5(UBE3A):c.1032T>C (p.Ile344=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10051656 CV193733 NM_130839.5(UBE3A):c.1338T>C (p.Phe446=) variant DOID:1932 Angelman syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Angelman syndrome PMID:28492532 10051656 CV193733 NM_130839.5(UBE3A):c.1338T>C (p.Phe446=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10051657 CV193734 NM_001267550.2(TTN):c.186C>T (p.Arg62=) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10051657 CV193734 NM_001267550.2(TTN):c.186C>T (p.Arg62=) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:25741868|PMID:28492532 10051657 CV193734 NM_001267550.2(TTN):c.186C>T (p.Arg62=) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:25741868|PMID:28492532 10051658 CV193735 NM_001146079.2(CLDN14):c.*10G>C variant DOID:0110487 autosomal recessive nonsyndromic deafness 29 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 29 PMID:24033266 10051660 CV193737 NM_144631.6(ZNF513):c.290C>T (p.Ala97Val) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532 10051661 CV193738 NM_144631.6(ZNF513):c.519C>T (p.Ser173=) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532 10051663 CV193740 NM_001128225.3(SLC39A13):c.398C>T (p.Thr133Met) variant DOID:0080739 Ehlers-Danlos syndrome spondylodysplastic type 3 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Spondylocheirodysplasia, Ehlers-Danlos syndrome-like PMID:25741868|PMID:28492532 10051663 CV193740 NM_001128225.3(SLC39A13):c.398C>T (p.Thr133Met) variant DOID:11830 myopia IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Myopia PMID:25741868|PMID:28492532 10051663 CV193740 NM_001128225.3(SLC39A13):c.398C>T (p.Thr133Met) variant DOID:13359 Ehlers-Danlos syndrome IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:25741868|PMID:28492532 10051663 CV193740 NM_001128225.3(SLC39A13):c.398C>T (p.Thr133Met) variant DOID:3144 cutis laxa IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dermatomegaly PMID:25741868|PMID:28492532 10051663 CV193740 NM_001128225.3(SLC39A13):c.398C>T (p.Thr133Met) variant DOID:419 scleroderma IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Scleroderma PMID:25741868|PMID:28492532 10051663 CV193740 NM_001128225.3(SLC39A13):c.398C>T (p.Thr133Met) variant DOID:65 connective tissue disease IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disease PMID:25741868|PMID:28492532 10051663 CV193740 NM_001128225.3(SLC39A13):c.398C>T (p.Thr133Met) variant DOID:988 mitral valve prolapse IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Mitral valve prolapse PMID:25741868|PMID:28492532 10051664 CV193743 NM_001371596.2(MFSD8):c.63-4del variant DOID:0110722 neuronal ceroid lipofuscinosis 7 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7 PMID:19201763|PMID:28492532 10051664 CV193743 NM_001371596.2(MFSD8):c.63-4del variant DOID:0110726 neuronal ceroid lipofuscinosis 2 IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis PMID:19201763|PMID:28492532 10051667 CV193749 NM_002617.4(PEX10):c.495C>T (p.Phe165=) variant DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:28492532 10051668 CV193750 NM_021728.4(OTX2):c.444G>C (p.Pro148=) variant DOID:0111806 syndromic microphthalmia 5 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:28492532 10051669 CV193751 NM_173495.3(PTCHD1):c.1311T>C (p.His437=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10051670 CV193752 NM_173495.3(PTCHD1):c.2041G>A (p.Val681Ile) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10051671 CV193754 NM_173495.3(PTCHD1):c.1110C>G (p.Asp370Glu) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 10051672 CV193756 NM_173660.5(DOK7):c.331+9C>T variant DOID:0111377 fetal akinesia deformation sequence syndrome 1 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Pena-Shokeir syndrome type I PMID:25741868|PMID:28492532 10051673 CV193758 NM_173660.5(DOK7):c.134C>T (p.Ser45Leu) variant DOID:0111377 fetal akinesia deformation sequence syndrome 1 IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:17439981|PMID:20012313|PMID:20562457|PMID:22661499|PMID:23657916|PMID:25741868|PMID:28492532 10051674 CV193760 NM_144596.4(TTC8):c.267C>A (p.Arg89=) variant DOID:0110130 Bardet-Biedl syndrome 8 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: TTC8-related condition PMID:16308660|PMID:28492532 10051674 CV193760 NM_144596.4(TTC8):c.267C>A (p.Arg89=) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:16308660|PMID:28492532 10051674 CV193760 NM_144596.4(TTC8):c.267C>A (p.Arg89=) variant DOID:1935 Bardet-Biedl syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:16308660|PMID:28492532 10051675 CV193761 NM_144596.4(TTC8):c.284A>G (p.Lys95Arg) variant DOID:0110130 Bardet-Biedl syndrome 8 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 8 PMID:14520415|PMID:25741868|PMID:28492532 10051675 CV193761 NM_144596.4(TTC8):c.284A>G (p.Lys95Arg) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:14520415|PMID:25741868|PMID:28492532 10051675 CV193761 NM_144596.4(TTC8):c.284A>G (p.Lys95Arg) variant DOID:1935 Bardet-Biedl syndrome IAGP D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:14520415|PMID:25741868|PMID:28492532 10051677 CV193763 NM_198525.3(KIF7):c.336C>T (p.Leu112=) variant DOID:9250 acrocallosal syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Acrocallosal syndrome PMID:28492532 10051678 CV193764 NM_198525.3(KIF7):c.510A>G (p.Glu170=) variant DOID:9250 acrocallosal syndrome IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Acrocallosal syndrome PMID:28492532 10051679 CV193766 NM_203447.4(DOCK8):c.314C>G (p.Pro105Arg) variant DOID:0080545 hyper IgE syndrome IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive PMID:28492532 10051679 CV193766 NM_203447.4(DOCK8):c.314C>G (p.Pro105Arg) variant DOID:0080594 hyper IgE recurrent infection syndrome 2 IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE PMID:28492532 10051680 CV193767 NM_207361.6(FREM2):c.5276T>C (p.Leu1759Ser) variant DOID:0111717 isolated cryptophthalmia IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Isolated cryptophthalmia PMID:25741868|PMID:28492532 10051682 CV193771 NM_000392.5(ABCC2):c.4179G>T (p.Met1393Ile) variant DOID:12308 Dubin-Johnson syndrome IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Dubin-Johnson syndrome PMID:25741868|PMID:33713692 10051683 CV193772 NM_201384.3(PLEC):c.3885G>A (p.Pro1295=) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy PMID:25741868|PMID:26467025|PMID:28492532 10051684 CV193773 NM_001083961.2(WDR62):c.3786C>T (p.Gly1262=) variant DOID:0070293 primary autosomal recessive microcephaly 2 with or without cortical malformations IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Microcephaly 2, primary, autosomal recessive, with or without cortical malformations PMID:25741868|PMID:28492532 10051685 CV193774 NM_001083961.2(WDR62):c.3812C>T (p.Ala1271Val) variant DOID:0070293 primary autosomal recessive microcephaly 2 with or without cortical malformations IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Primary Microcephaly 2 With or Without Cortical Malformations PMID:25741868|PMID:26467025|PMID:28492532 10051685 CV193774 NM_001083961.2(WDR62):c.3812C>T (p.Ala1271Val) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 10051686 CV193775 NM_001130823.3(DNMT1):c.3156C>T (p.His1052=) variant DOID:0070158 hereditary sensory neuropathy type 1E IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Hereditary sensory neuropathy type IE PMID:28492532 10051687 CV193776 NM_001130987.2(DYSF):c.3229-5T>C variant DOID:9004518 Dysferlinopathy IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Dysferlinopathy PMID:28492532 10051690 CV193784 NM_003482.4(KMT2D):c.6204G>A (p.Arg2068=) variant DOID:0060473 Kabuki syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Kabuki syndrome PMID:28492532 10051690 CV193784 NM_003482.4(KMT2D):c.6204G>A (p.Arg2068=) variant DOID:9001255 Kabuki Syndrome 1 IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: KMT2D-Related Disorders PMID:28492532 10051692 CV193790 NM_005045.4(RELN):c.4457A>G (p.Asn1486Ser) variant DOID:0060902 Norman-Roberts syndrome IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Norman-Roberts syndrome PMID:28492532 10051692 CV193790 NM_005045.4(RELN):c.4457A>G (p.Asn1486Ser) variant DOID:630 genetic disease IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10051694 CV193792 NM_015102.5(NPHP4):c.4145G>A (p.Gly1382Glu) variant DOID:0111112 nephronophthisis 1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:25741868|PMID:28492532 10051694 CV193792 NM_015102.5(NPHP4):c.4145G>A (p.Gly1382Glu) variant DOID:0111115 nephronophthisis 4 IAGP D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Nephronophthisis 4 PMID:25741868|PMID:28492532 10051694 CV193792 NM_015102.5(NPHP4):c.4145G>A (p.Gly1382Glu) variant DOID:12712 nephronophthisis IAGP D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:25741868|PMID:28492532 10051694 CV193792 NM_015102.5(NPHP4):c.4145G>A (p.Gly1382Glu) variant DOID:630 genetic disease IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10051694 CV193792 NM_015102.5(NPHP4):c.4145G>A (p.Gly1382Glu) variant DOID:9000511 Senior-Loken Syndrome 4 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 4 PMID:25741868|PMID:28492532 10051695 CV193793 NM_020822.3(KCNT1):c.3537C>T (p.Tyr1179=) variant DOID:0080439 developmental and epileptic encephalopathy 14 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:28492532 10051695 CV193793 NM_020822.3(KCNT1):c.3537C>T (p.Tyr1179=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10051701 CV193802 NM_001267550.2(TTN):c.98781T>C (p.Ser32927=) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:28492532 10051702 CV193803 NM_001267550.2(TTN):c.98919C>T (p.Ile32973=) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10 PMID:28492532 10051702 CV193803 NM_001267550.2(TTN):c.98919C>T (p.Ile32973=) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:28492532 10051703 CV193804 NM_001267550.2(TTN):c.98716G>A (p.Val32906Ile) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: CONGENITAL MYOPATHY 5 WITH CARDIOMYOPATHY PMID:25741868|PMID:28492532|PMID:37091313 10051703 CV193804 NM_001267550.2(TTN):c.98716G>A (p.Val32906Ile) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:25741868|PMID:28492532|PMID:37091313 10051703 CV193804 NM_001267550.2(TTN):c.98716G>A (p.Val32906Ile) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:25741868|PMID:28492532|PMID:37091313 10051703 CV193804 NM_001267550.2(TTN):c.98716G>A (p.Val32906Ile) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Udd Distal Myopathy PMID:25741868|PMID:28492532|PMID:37091313 10051703 CV193804 NM_001267550.2(TTN):c.98716G>A (p.Val32906Ile) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant PMID:25741868|PMID:28492532|PMID:37091313 10051705 CV193807 NM_001267550.2(TTN):c.100163G>A (p.Ser33388Asn) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Early-onset myopathy with fatal cardiomyopathy PMID:25741868|PMID:28492532 10051705 CV193807 NM_001267550.2(TTN):c.100163G>A (p.Ser33388Asn) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:25741868|PMID:28492532 10051705 CV193807 NM_001267550.2(TTN):c.100163G>A (p.Ser33388Asn) variant DOID:0110315 hypertrophic cardiomyopathy 9 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 9 PMID:25741868|PMID:28492532 10051705 CV193807 NM_001267550.2(TTN):c.100163G>A (p.Ser33388Asn) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:25741868|PMID:28492532 10051705 CV193807 NM_001267550.2(TTN):c.100163G>A (p.Ser33388Asn) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:25741868|PMID:28492532 10051705 CV193807 NM_001267550.2(TTN):c.100163G>A (p.Ser33388Asn) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:25741868|PMID:28492532 10051706 CV193808 NM_001267550.2(TTN):c.100167A>G (p.Pro33389=) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:28492532 10051706 CV193808 NM_001267550.2(TTN):c.100167A>G (p.Pro33389=) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:28492532 10051707 CV193809 NM_001267550.2(TTN):c.100467T>C (p.Ser33489=) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:28492532 10051708 CV193810 NM_001267550.2(TTN):c.105680C>T (p.Ala35227Val) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:25741868 10051709 CV193811 NM_001267550.2(TTN):c.102027G>T (p.Leu34009Phe) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23975875|PMID:25589632|PMID:25741868|PMID:28492532 10051710 CV193813 NM_001267550.2(TTN):c.102329G>A (p.Arg34110Gln) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23975875|PMID:25589632|PMID:28492532 10051711 CV193814 NM_001267550.2(TTN):c.102811G>A (p.Val34271Ile) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23975875|PMID:25589632|PMID:25741868|PMID:28492532 10051711 CV193814 NM_001267550.2(TTN):c.102811G>A (p.Val34271Ile) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Salih Myopathy PMID:23975875|PMID:25589632|PMID:25741868|PMID:28492532 10051711 CV193814 NM_001267550.2(TTN):c.102811G>A (p.Val34271Ile) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:23975875|PMID:25589632|PMID:25741868|PMID:28492532 10051711 CV193814 NM_001267550.2(TTN):c.102811G>A (p.Val34271Ile) variant DOID:0110315 hypertrophic cardiomyopathy 9 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 9 PMID:23975875|PMID:25589632|PMID:25741868|PMID:28492532 10051711 CV193814 NM_001267550.2(TTN):c.102811G>A (p.Val34271Ile) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23975875|PMID:25589632|PMID:25741868|PMID:28492532 10051711 CV193814 NM_001267550.2(TTN):c.102811G>A (p.Val34271Ile) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Udd Distal Myopathy PMID:23975875|PMID:25589632|PMID:25741868|PMID:28492532 10051711 CV193814 NM_001267550.2(TTN):c.102811G>A (p.Val34271Ile) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant PMID:23975875|PMID:25589632|PMID:25741868|PMID:28492532 10051712 CV193815 NM_001267550.2(TTN):c.102025T>C (p.Leu34009=) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:25741868|PMID:28492532 10051712 CV193815 NM_001267550.2(TTN):c.102025T>C (p.Leu34009=) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:25741868|PMID:28492532 10051713 CV193816 NM_001267550.2(TTN):c.104660C>T (p.Pro34887Leu) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23975875|PMID:25589632|PMID:25741868|PMID:28492532 10051714 CV193817 NM_001267550.2(TTN):c.105805del (p.Thr35269fs) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:18948003|PMID:23975875|PMID:24395473|PMID:25589632|PMID:27869827|PMID:28492532|PMID:29691892|PMID:32964742 10051714 CV193817 NM_001267550.2(TTN):c.105805del (p.Thr35269fs) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:18948003|PMID:23975875|PMID:24395473|PMID:25589632|PMID:27869827|PMID:28492532|PMID:29691892|PMID:32964742 10051715 CV193819 NM_000093.5(COL5A1):c.2593-3C>T variant DOID:14720 Ehlers-Danlos syndrome classic type 1 IAGP D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 10051717 CV193821 NM_000426.4(LAMA2):c.4487C>T (p.Ala1496Val) variant DOID:0061132 autosomal recessive limb-girdle muscular dystrophy type 23 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, autosomal recessive 23 PMID:24957499|PMID:25741868|PMID:26467025|PMID:27854218|PMID:28492532|PMID:30055037 10051717 CV193821 NM_000426.4(LAMA2):c.4487C>T (p.Ala1496Val) variant DOID:0110636 congenital merosin-deficient muscular dystrophy 1A IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Merosin deficient congenital muscular dystrophy PMID:24957499|PMID:25741868|PMID:26467025|PMID:27854218|PMID:28492532|PMID:30055037 10051717 CV193821 NM_000426.4(LAMA2):c.4487C>T (p.Ala1496Val) variant DOID:9007352 Congenital Muscular Dystrophy due to Partial LAMA2 Deficiency IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy due to partial LAMA2 deficiency PMID:24957499|PMID:25741868|PMID:26467025|PMID:27854218|PMID:28492532|PMID:30055037 10051718 CV193822 NM_201384.3(PLEC):c.3948C>T (p.Tyr1316=) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:28492532 10051719 CV193823 NM_201384.3(PLEC):c.4028G>A (p.Arg1343His) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Epidermolysa bullosa simplex and limb girdle muscular dystrophy PMID:28492532 10051721 CV193826 NM_000552.5(VWF):c.5369C>T (p.Pro1790Leu) variant DOID:12531 von Willebrand's disease IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Hereditary von Willebrand disease 10051724 CV193829 NM_000553.6(WRN):c.3627T>A (p.Ala1209=) variant DOID:5688 Werner syndrome IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Werner syndrome PMID:25741868|PMID:28492532 10051725 CV193830 NM_000642.3(AGL):c.4210G>A (p.Ala1404Thr) variant DOID:2748 glycogen storage disease III IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Glycogen storage disease type III PMID:25741868|PMID:28492532 10051725 CV193830 NM_000642.3(AGL):c.4210G>A (p.Ala1404Thr) variant DOID:630 genetic disease IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10051726 CV193831 NM_001170629.2(CHD8):c.6085G>A (p.Glu2029Lys) variant DOID:12849 autistic disorder IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: CHD8-related disorder PMID:28492532 10051726 CV193831 NM_001170629.2(CHD8):c.6085G>A (p.Glu2029Lys) variant DOID:630 genetic disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10051727 CV193832 NM_001170629.2(CHD8):c.6119A>G (p.Asp2040Gly) variant DOID:12849 autistic disorder IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: CHD8-related disorder PMID:25741868|PMID:28492532 10051727 CV193832 NM_001170629.2(CHD8):c.6119A>G (p.Asp2040Gly) variant DOID:630 genetic disease IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10051727 CV193832 NM_001170629.2(CHD8):c.6119A>G (p.Asp2040Gly) variant DOID:9000443 Intellectual Developmental Disorder with Autism and Macrocephaly IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autism, susceptibility to, 18 PMID:25741868|PMID:28492532 10051728 CV193833 NM_001170629.2(CHD8):c.6232C>T (p.Leu2078=) variant DOID:12849 autistic disorder IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: CHD8-related disorder PMID:28492532 10051728 CV193833 NM_001170629.2(CHD8):c.6232C>T (p.Leu2078=) variant DOID:630 genetic disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10051729 CV193837 NM_001429.4(EP300):c.5957C>T (p.Pro1986Leu) variant DOID:1933 Rubinstein-Taybi syndrome IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 PMID:25741868|PMID:28492532 10051732 CV193841 NM_001848.3(COL6A1):c.2045G>A (p.Arg682Gln) variant DOID:0050663 Bethlem myopathy IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Myopathy, benign congenital, with contractures PMID:25741868|PMID:28492532|PMID:30564623 10051732 CV193841 NM_001848.3(COL6A1):c.2045G>A (p.Arg682Gln) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:25741868|PMID:28492532|PMID:30564623 10051733 CV193844 NM_003482.4(KMT2D):c.6235-6C>G variant DOID:0060473 Kabuki syndrome IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Kabuki syndrome PMID:25741868|PMID:28492532 10051733 CV193844 NM_003482.4(KMT2D):c.6235-6C>G variant DOID:630 genetic disease IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10051733 CV193844 NM_003482.4(KMT2D):c.6235-6C>G variant DOID:9001255 Kabuki Syndrome 1 IAGP D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868|PMID:28492532 10051733 CV193844 NM_003482.4(KMT2D):c.6235-6C>G variant DOID:9006871 BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome PMID:25741868|PMID:28492532 10051734 CV193845 NM_003482.4(KMT2D):c.6649C>T (p.Arg2217Cys) variant DOID:0060473 Kabuki syndrome IAGP D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Kabuki syndrome PMID:28492532 10051735 CV193846 NM_003482.4(KMT2D):c.7201C>T (p.Arg2401Cys) variant DOID:0060473 Kabuki syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kabuki syndrome PMID:28492532 10051736 CV193847 NM_003482.4(KMT2D):c.6739C>T (p.Pro2247Ser) variant DOID:0060473 Kabuki syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Kabuki syndrome PMID:28492532 10051736 CV193847 NM_003482.4(KMT2D):c.6739C>T (p.Pro2247Ser) variant DOID:630 genetic disease IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10051737 CV193848 NM_003482.4(KMT2D):c.6345C>T (p.Ser2115=) variant DOID:0060473 Kabuki syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Kabuki syndrome PMID:28492532 10051737 CV193848 NM_003482.4(KMT2D):c.6345C>T (p.Ser2115=) variant DOID:9001255 Kabuki Syndrome 1 IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: KMT2D-Related Disorders PMID:28492532 10051739 CV193850 NM_003482.4(KMT2D):c.7301C>A (p.Ala2434Asp) variant DOID:0060473 Kabuki syndrome IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Kabuki syndrome PMID:25741868|PMID:28492532 10051739 CV193850 NM_003482.4(KMT2D):c.7301C>A (p.Ala2434Asp) variant DOID:9001255 Kabuki Syndrome 1 IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868|PMID:28492532 10051740 CV193857 NM_004380.3(CREBBP):c.6746G>A (p.Arg2249His) variant DOID:1933 Rubinstein-Taybi syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:28492532 10051741 CV193858 NM_004380.3(CREBBP):c.5517C>T (p.Pro1839=) variant DOID:1933 Rubinstein-Taybi syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: CREBBP-related condition 10051742 CV193859 NM_004380.3(CREBBP):c.5969_5977del (p.Thr1990_Gly1992del) variant DOID:1933 Rubinstein-Taybi syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Broad thumb-hallux syndrome PMID:25741868|PMID:28492532 10051742 CV193859 NM_004380.3(CREBBP):c.5969_5977del (p.Thr1990_Gly1992del) variant DOID:9008974 Menke-Hennekam Syndrome 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Menke-Hennekam syndrome 1 PMID:25741868|PMID:28492532 10051743 CV193860 NM_004380.3(CREBBP):c.5843C>T (p.Pro1948Leu) variant DOID:1933 Rubinstein-Taybi syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 PMID:25741868|PMID:28492532 10051743 CV193860 NM_004380.3(CREBBP):c.5843C>T (p.Pro1948Leu) variant DOID:9008974 Menke-Hennekam Syndrome 1 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Menke-Hennekam syndrome 1 PMID:25741868|PMID:28492532 10051748 CV193866 NM_016239.4(MYO15A):c.6623C>T (p.Pro2208Leu) variant DOID:0110488 autosomal recessive nonsyndromic deafness 3 IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 3 PMID:28492532 10051749 CV193867 NM_017780.4(CHD7):c.6437T>C (p.Leu2146Pro) variant DOID:0050834 CHARGE syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: CHD7-related condition 10051749 CV193867 NM_017780.4(CHD7):c.6437T>C (p.Leu2146Pro) variant DOID:630 genetic disease IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10051750 CV193869 NM_017780.4(CHD7):c.6771C>T (p.Pro2257=) variant DOID:0050834 CHARGE syndrome IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: CHARGE association PMID:28492532 10051751 CV193870 NM_017780.4(CHD7):c.6308G>A (p.Gly2103Asp) variant DOID:0050834 CHARGE syndrome IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: CHARGE association PMID:21158681|PMID:28492532 10051752 CV193871 NM_017780.4(CHD7):c.6747T>A (p.Asp2249Glu) variant DOID:0050834 CHARGE syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: CHARGE syndrome PMID:25741868 10051753 CV193872 NM_001384732.1(CPLANE1):c.5928G>A (p.Gly1976=) variant DOID:0110986 Joubert Syndrome 17 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Joubert syndrome 17 PMID:28492532 10051754 CV193874 NM_025114.4(CEP290):c.3660G>T (p.Lys1220Asn) variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:25741868|PMID:28492532 10051754 CV193874 NM_025114.4(CEP290):c.3660G>T (p.Lys1220Asn) variant DOID:0070118 Meckel syndrome 4 IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 4 PMID:25741868|PMID:28492532 10051754 CV193874 NM_025114.4(CEP290):c.3660G>T (p.Lys1220Asn) variant DOID:0110136 Bardet-Biedl syndrome 14 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 14 PMID:25741868|PMID:28492532 10051754 CV193874 NM_025114.4(CEP290):c.3660G>T (p.Lys1220Asn) variant DOID:0110291 Leber congenital amaurosis 10 IAGP D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 10 PMID:25741868|PMID:28492532 10051754 CV193874 NM_025114.4(CEP290):c.3660G>T (p.Lys1220Asn) variant DOID:14791 Leber congenital amaurosis IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:25741868|PMID:28492532 10051754 CV193874 NM_025114.4(CEP290):c.3660G>T (p.Lys1220Asn) variant DOID:630 genetic disease IAGP D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10051755 CV193877 NM_201384.3(PLEC):c.7267G>A (p.Ala2423Thr) variant DOID:0060736 epidermolysis bullosa simplex Ogna type IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Ogna type PMID:25741868|PMID:26467025|PMID:28492532 10051755 CV193877 NM_201384.3(PLEC):c.7267G>A (p.Ala2423Thr) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy PMID:25741868|PMID:26467025|PMID:28492532 10051755 CV193877 NM_201384.3(PLEC):c.7267G>A (p.Ala2423Thr) variant DOID:0110285 autosomal recessive limb-girdle muscular dystrophy type 2Q IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2Q PMID:25741868|PMID:26467025|PMID:28492532 10051755 CV193877 NM_201384.3(PLEC):c.7267G>A (p.Ala2423Thr) variant DOID:9001254 Epidermolysis Bullosa Simplex 5D with Nail Dystrophy IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy PMID:25741868|PMID:26467025|PMID:28492532 10051755 CV193877 NM_201384.3(PLEC):c.7267G>A (p.Ala2423Thr) variant DOID:9003881 Epidermolysis Bullosa Simplex 5C with Pyloric Atresia IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with pyloric atresia PMID:25741868|PMID:26467025|PMID:28492532 10051756 CV193878 NM_201384.3(PLEC):c.4651C>T (p.Arg1551Cys) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy PMID:25741868|PMID:26467025|PMID:27392081|PMID:28492532 10051756 CV193878 NM_201384.3(PLEC):c.4651C>T (p.Arg1551Cys) variant DOID:2377 multiple sclerosis IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Multiple sclerosis PMID:25741868|PMID:26467025|PMID:27392081|PMID:28492532 10051757 CV193879 NM_201384.3(PLEC):c.4839G>A (p.Arg1613=) variant DOID:0060736 epidermolysis bullosa simplex Ogna type IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX 5A, OGNA TYPE PMID:28492532 10051757 CV193879 NM_201384.3(PLEC):c.4839G>A (p.Arg1613=) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy PMID:28492532 10051757 CV193879 NM_201384.3(PLEC):c.4839G>A (p.Arg1613=) variant DOID:0110285 autosomal recessive limb-girdle muscular dystrophy type 2Q IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17 PMID:28492532 10051757 CV193879 NM_201384.3(PLEC):c.4839G>A (p.Arg1613=) variant DOID:9001254 Epidermolysis Bullosa Simplex 5D with Nail Dystrophy IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy PMID:28492532 10051757 CV193879 NM_201384.3(PLEC):c.4839G>A (p.Arg1613=) variant DOID:9003881 Epidermolysis Bullosa Simplex 5C with Pyloric Atresia IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with pyloric atresia PMID:28492532 10051758 CV193880 NM_201384.3(PLEC):c.4581G>A (p.Ala1527=) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:28492532 10051759 CV193881 NM_201384.3(PLEC):c.5390G>A (p.Arg1797His) variant DOID:0060736 epidermolysis bullosa simplex Ogna type IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Ogna type PMID:25741868|PMID:28492532 10051759 CV193881 NM_201384.3(PLEC):c.5390G>A (p.Arg1797His) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY PMID:25741868|PMID:28492532 10051759 CV193881 NM_201384.3(PLEC):c.5390G>A (p.Arg1797His) variant DOID:0110070 arrhythmogenic right ventricular dysplasia 1 IAGP D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 PMID:25741868|PMID:28492532 10051759 CV193881 NM_201384.3(PLEC):c.5390G>A (p.Arg1797His) variant DOID:0110285 autosomal recessive limb-girdle muscular dystrophy type 2Q IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2Q PMID:25741868|PMID:28492532 10051759 CV193881 NM_201384.3(PLEC):c.5390G>A (p.Arg1797His) variant DOID:9001254 Epidermolysis Bullosa Simplex 5D with Nail Dystrophy IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy PMID:25741868|PMID:28492532 10051759 CV193881 NM_201384.3(PLEC):c.5390G>A (p.Arg1797His) variant DOID:9003881 Epidermolysis Bullosa Simplex 5C with Pyloric Atresia IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with pyloric atresia PMID:25741868|PMID:28492532 10051760 CV193882 NM_201384.3(PLEC):c.6786G>A (p.Thr2262=) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy PMID:26467025|PMID:28492532 10051761 CV193883 NM_201384.3(PLEC):c.4524G>A (p.Gln1508=) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:25741868|PMID:26467025|PMID:28492532 10051762 CV193884 NM_001267550.2(TTN):c.107377+1G>A variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: CONGENITAL MYOPATHY 5 WITH CARDIOMYOPATHY PMID:18948003|PMID:23975875|PMID:24395473|PMID:25214167|PMID:25589632|PMID:25741868|PMID:26467025|PMID:27869827|PMID:28492532|PMID:28716623|PMID:29435569|PMID:32039858|PMID:32778822|PMID:32964742|PMID:35081925 10051762 CV193884 NM_001267550.2(TTN):c.107377+1G>A variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:18948003|PMID:23975875|PMID:24395473|PMID:25214167|PMID:25589632|PMID:25741868|PMID:26467025|PMID:27869827|PMID:28492532|PMID:28716623|PMID:29435569|PMID:32039858|PMID:32778822|PMID:32964742|PMID:35081925 10051762 CV193884 NM_001267550.2(TTN):c.107377+1G>A variant DOID:0110315 hypertrophic cardiomyopathy 9 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 9 PMID:18948003|PMID:23975875|PMID:24395473|PMID:25214167|PMID:25589632|PMID:25741868|PMID:26467025|PMID:27869827|PMID:28492532|PMID:28716623|PMID:29435569|PMID:32039858|PMID:32778822|PMID:32964742|PMID:35081925 10051762 CV193884 NM_001267550.2(TTN):c.107377+1G>A variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:18948003|PMID:23975875|PMID:24395473|PMID:25214167|PMID:25589632|PMID:25741868|PMID:26467025|PMID:27869827|PMID:28492532|PMID:28716623|PMID:29435569|PMID:32039858|PMID:32778822|PMID:32964742|PMID:35081925 10051762 CV193884 NM_001267550.2(TTN):c.107377+1G>A variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Udd Distal Myopathy PMID:18948003|PMID:23975875|PMID:24395473|PMID:25214167|PMID:25589632|PMID:25741868|PMID:26467025|PMID:27869827|PMID:28492532|PMID:28716623|PMID:29435569|PMID:32039858|PMID:32778822|PMID:32964742|PMID:35081925 10051762 CV193884 NM_001267550.2(TTN):c.107377+1G>A variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant PMID:18948003|PMID:23975875|PMID:24395473|PMID:25214167|PMID:25589632|PMID:25741868|PMID:26467025|PMID:27869827|PMID:28492532|PMID:28716623|PMID:29435569|PMID:32039858|PMID:32778822|PMID:32964742|PMID:35081925 10051762 CV193884 NM_001267550.2(TTN):c.107377+1G>A variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic PMID:18948003|PMID:23975875|PMID:24395473|PMID:25214167|PMID:25589632|PMID:25741868|PMID:26467025|PMID:27869827|PMID:28492532|PMID:28716623|PMID:29435569|PMID:32039858|PMID:32778822|PMID:32964742|PMID:35081925 10051762 CV193884 NM_001267550.2(TTN):c.107377+1G>A variant DOID:440 neuromuscular disease IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Neuromuscular disease PMID:18948003|PMID:23975875|PMID:24395473|PMID:25214167|PMID:25589632|PMID:25741868|PMID:26467025|PMID:27869827|PMID:28492532|PMID:28716623|PMID:29435569|PMID:32039858|PMID:32778822|PMID:32964742|PMID:35081925 10051764 CV193886 NM_001267550.2(TTN):c.107591T>C (p.Val35864Ala) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:25741868|PMID:26467025|PMID:28492532 10051766 CV193892 NM_000393.5(COL5A2):c.2101C>A (p.Pro701Thr) variant DOID:14720 Ehlers-Danlos syndrome classic type 1 IAGP D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 10051767 CV193893 NM_201384.3(PLEC):c.5391C>T (p.Arg1797=) variant DOID:0060736 epidermolysis bullosa simplex Ogna type IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Ogna type PMID:26467025|PMID:28492532 10051767 CV193893 NM_201384.3(PLEC):c.5391C>T (p.Arg1797=) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy PMID:26467025|PMID:28492532 10051767 CV193893 NM_201384.3(PLEC):c.5391C>T (p.Arg1797=) variant DOID:0110285 autosomal recessive limb-girdle muscular dystrophy type 2Q IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2Q PMID:26467025|PMID:28492532 10051767 CV193893 NM_201384.3(PLEC):c.5391C>T (p.Arg1797=) variant DOID:9001254 Epidermolysis Bullosa Simplex 5D with Nail Dystrophy IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy PMID:26467025|PMID:28492532 10051767 CV193893 NM_201384.3(PLEC):c.5391C>T (p.Arg1797=) variant DOID:9003881 Epidermolysis Bullosa Simplex 5C with Pyloric Atresia IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with pyloric atresia PMID:26467025|PMID:28492532 10051768 CV193894 NM_201384.3(PLEC):c.5878C>T (p.Arg1960Cys) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:25741868|PMID:28492532 10051768 CV193894 NM_201384.3(PLEC):c.5878C>T (p.Arg1960Cys) variant DOID:630 genetic disease IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10051769 CV193896 NM_201384.3(PLEC):c.5965C>T (p.Arg1989Cys) variant DOID:0060736 epidermolysis bullosa simplex Ogna type IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Ogna type PMID:25741868|PMID:26467025|PMID:28492532 10051769 CV193896 NM_201384.3(PLEC):c.5965C>T (p.Arg1989Cys) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:25741868|PMID:26467025|PMID:28492532 10051770 CV193897 NM_201384.3(PLEC):c.4076G>A (p.Arg1359His) variant DOID:0060736 epidermolysis bullosa simplex Ogna type IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Ogna type PMID:25741868|PMID:28492532 10051770 CV193897 NM_201384.3(PLEC):c.4076G>A (p.Arg1359His) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy PMID:25741868|PMID:28492532 10051770 CV193897 NM_201384.3(PLEC):c.4076G>A (p.Arg1359His) variant DOID:0110285 autosomal recessive limb-girdle muscular dystrophy type 2Q IAGP D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2Q PMID:25741868|PMID:28492532 10051770 CV193897 NM_201384.3(PLEC):c.4076G>A (p.Arg1359His) variant DOID:9001254 Epidermolysis Bullosa Simplex 5D with Nail Dystrophy IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy PMID:25741868|PMID:28492532 10051770 CV193897 NM_201384.3(PLEC):c.4076G>A (p.Arg1359His) variant DOID:9003881 Epidermolysis Bullosa Simplex 5C with Pyloric Atresia IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with pyloric atresia PMID:25741868|PMID:28492532 10051771 CV193898 NM_201384.3(PLEC):c.5053C>T (p.Arg1685Trp) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy PMID:25741868|PMID:28492532 10051771 CV193898 NM_201384.3(PLEC):c.5053C>T (p.Arg1685Trp) variant DOID:630 genetic disease IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10051772 CV193899 NM_201384.3(PLEC):c.6222C>T (p.Ser2074=) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:25741868|PMID:28492532 10051773 CV193900 NM_201384.3(PLEC):c.4396C>T (p.Arg1466Cys) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy PMID:28492532 10051774 CV193901 NM_201384.3(PLEC):c.6758C>T (p.Ala2253Val) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:25741868|PMID:28492532 10051774 CV193901 NM_201384.3(PLEC):c.6758C>T (p.Ala2253Val) variant DOID:630 genetic disease IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10051775 CV193902 NM_201384.3(PLEC):c.6311C>T (p.Ala2104Val) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:25741868|PMID:28492532 10051776 CV193903 NM_201384.3(PLEC):c.4083G>A (p.Arg1361=) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Epidermolysa bullosa simplex and limb girdle muscular dystrophy PMID:26467025|PMID:28492532 10051777 CV193904 NM_201384.3(PLEC):c.5540G>A (p.Arg1847Gln) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy PMID:25741868|PMID:28492532 10051777 CV193904 NM_201384.3(PLEC):c.5540G>A (p.Arg1847Gln) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10051778 CV193905 NM_201384.3(PLEC):c.5965C>A (p.Arg1989Ser) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:25741868|PMID:28492532 10051778 CV193905 NM_201384.3(PLEC):c.5965C>A (p.Arg1989Ser) variant DOID:630 genetic disease IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10051779 CV193906 NM_201384.3(PLEC):c.6303G>A (p.Glu2101=) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy PMID:28492532 10051780 CV193907 NM_201384.3(PLEC):c.5796G>A (p.Ala1932=) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:25741868|PMID:28492532 10051781 CV193908 NM_201384.3(PLEC):c.7194C>T (p.Arg2398=) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy PMID:28492532 10051782 CV193909 NM_201384.3(PLEC):c.5024G>A (p.Arg1675Gln) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:25741868|PMID:26467025|PMID:28492532|PMID:32707200 10051783 CV193910 NM_201384.3(PLEC):c.4233G>A (p.Ala1411=) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy PMID:28492532 10051784 CV193911 NM_201384.3(PLEC):c.6594C>T (p.Thr2198=) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy PMID:26467025|PMID:28492532 10051785 CV193912 NM_201384.3(PLEC):c.7383G>T (p.Lys2461Asn) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:25741868|PMID:28492532 10051785 CV193912 NM_201384.3(PLEC):c.7383G>T (p.Lys2461Asn) variant DOID:630 genetic disease IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10051786 CV193913 NM_201384.3(PLEC):c.6536G>A (p.Arg2179Gln) variant DOID:0060736 epidermolysis bullosa simplex Ogna type IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX 5A, OGNA TYPE PMID:25741868|PMID:28492532 10051786 CV193913 NM_201384.3(PLEC):c.6536G>A (p.Arg2179Gln) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy PMID:25741868|PMID:28492532 10051786 CV193913 NM_201384.3(PLEC):c.6536G>A (p.Arg2179Gln) variant DOID:0110285 autosomal recessive limb-girdle muscular dystrophy type 2Q IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2Q PMID:25741868|PMID:28492532 10051786 CV193913 NM_201384.3(PLEC):c.6536G>A (p.Arg2179Gln) variant DOID:630 genetic disease IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10051786 CV193913 NM_201384.3(PLEC):c.6536G>A (p.Arg2179Gln) variant DOID:9001254 Epidermolysis Bullosa Simplex 5D with Nail Dystrophy IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy PMID:25741868|PMID:28492532 10051786 CV193913 NM_201384.3(PLEC):c.6536G>A (p.Arg2179Gln) variant DOID:9003881 Epidermolysis Bullosa Simplex 5C with Pyloric Atresia IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX 5C, WITH PYLORIC ATRESIA PMID:25741868|PMID:28492532 10051787 CV193914 NM_201384.3(PLEC):c.7062G>A (p.Ala2354=) variant DOID:0060736 epidermolysis bullosa simplex Ogna type IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Ogna type PMID:28492532 10051787 CV193914 NM_201384.3(PLEC):c.7062G>A (p.Ala2354=) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy PMID:28492532 10051787 CV193914 NM_201384.3(PLEC):c.7062G>A (p.Ala2354=) variant DOID:0110285 autosomal recessive limb-girdle muscular dystrophy type 2Q IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2Q PMID:28492532 10051787 CV193914 NM_201384.3(PLEC):c.7062G>A (p.Ala2354=) variant DOID:9001254 Epidermolysis Bullosa Simplex 5D with Nail Dystrophy IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy PMID:28492532 10051787 CV193914 NM_201384.3(PLEC):c.7062G>A (p.Ala2354=) variant DOID:9003881 Epidermolysis Bullosa Simplex 5C with Pyloric Atresia IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with pyloric atresia PMID:28492532 10051788 CV193915 NM_201384.3(PLEC):c.6083C>T (p.Ala2028Val) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy PMID:25741868|PMID:28492532 10051788 CV193915 NM_201384.3(PLEC):c.6083C>T (p.Ala2028Val) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10051789 CV193916 NM_201384.3(PLEC):c.7188G>A (p.Gln2396=) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy PMID:28492532 10051790 CV193918 NM_201384.3(PLEC):c.5304G>A (p.Leu1768=) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:25741868|PMID:26467025|PMID:28492532 10051791 CV193919 NM_201384.3(PLEC):c.5873C>T (p.Thr1958Met) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:25741868|PMID:28492532 10051792 CV193920 NM_201384.3(PLEC):c.5948G>A (p.Arg1983His) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:25741868|PMID:28492532 10051792 CV193920 NM_201384.3(PLEC):c.5948G>A (p.Arg1983His) variant DOID:630 genetic disease IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10051793 CV193921 NM_201384.3(PLEC):c.7101G>A (p.Thr2367=) variant DOID:0060736 epidermolysis bullosa simplex Ogna type IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Ogna type PMID:28492532 10051793 CV193921 NM_201384.3(PLEC):c.7101G>A (p.Thr2367=) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy PMID:28492532 10051793 CV193921 NM_201384.3(PLEC):c.7101G>A (p.Thr2367=) variant DOID:0110285 autosomal recessive limb-girdle muscular dystrophy type 2Q IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2Q PMID:28492532 10051793 CV193921 NM_201384.3(PLEC):c.7101G>A (p.Thr2367=) variant DOID:9001254 Epidermolysis Bullosa Simplex 5D with Nail Dystrophy IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy PMID:28492532 10051793 CV193921 NM_201384.3(PLEC):c.7101G>A (p.Thr2367=) variant DOID:9003881 Epidermolysis Bullosa Simplex 5C with Pyloric Atresia IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with pyloric atresia PMID:28492532 10051794 CV193922 NM_201384.3(PLEC):c.5922G>C (p.Gln1974His) variant DOID:0060736 epidermolysis bullosa simplex Ogna type IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Ogna type PMID:25741868|PMID:26467025|PMID:28492532|PMID:30161220 10051794 CV193922 NM_201384.3(PLEC):c.5922G>C (p.Gln1974His) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy PMID:25741868|PMID:26467025|PMID:28492532|PMID:30161220 10051794 CV193922 NM_201384.3(PLEC):c.5922G>C (p.Gln1974His) variant DOID:0110285 autosomal recessive limb-girdle muscular dystrophy type 2Q IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2Q PMID:25741868|PMID:26467025|PMID:28492532|PMID:30161220 10051794 CV193922 NM_201384.3(PLEC):c.5922G>C (p.Gln1974His) variant DOID:9001254 Epidermolysis Bullosa Simplex 5D with Nail Dystrophy IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy PMID:25741868|PMID:26467025|PMID:28492532|PMID:30161220 10051794 CV193922 NM_201384.3(PLEC):c.5922G>C (p.Gln1974His) variant DOID:9003881 Epidermolysis Bullosa Simplex 5C with Pyloric Atresia IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with pyloric atresia PMID:25741868|PMID:26467025|PMID:28492532|PMID:30161220 10051795 CV193923 NM_201384.3(PLEC):c.4526G>A (p.Arg1509His) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY PMID:25741868|PMID:26467025|PMID:28492532 10051795 CV193923 NM_201384.3(PLEC):c.4526G>A (p.Arg1509His) variant DOID:630 genetic disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 10051796 CV193924 NM_201384.3(PLEC):c.6001G>A (p.Ala2001Thr) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy PMID:28492532 10051797 CV193925 NM_201384.3(PLEC):c.5471C>T (p.Ala1824Val) variant DOID:0060736 epidermolysis bullosa simplex Ogna type IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Ogna type PMID:25741868|PMID:26467025|PMID:28492532 10051797 CV193925 NM_201384.3(PLEC):c.5471C>T (p.Ala1824Val) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy PMID:25741868|PMID:26467025|PMID:28492532 10051797 CV193925 NM_201384.3(PLEC):c.5471C>T (p.Ala1824Val) variant DOID:0110070 arrhythmogenic right ventricular dysplasia 1 IAGP D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 PMID:25741868|PMID:26467025|PMID:28492532 10051797 CV193925 NM_201384.3(PLEC):c.5471C>T (p.Ala1824Val) variant DOID:0110285 autosomal recessive limb-girdle muscular dystrophy type 2Q IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2Q PMID:25741868|PMID:26467025|PMID:28492532 10051797 CV193925 NM_201384.3(PLEC):c.5471C>T (p.Ala1824Val) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 10051797 CV193925 NM_201384.3(PLEC):c.5471C>T (p.Ala1824Val) variant DOID:9001254 Epidermolysis Bullosa Simplex 5D with Nail Dystrophy IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy PMID:25741868|PMID:26467025|PMID:28492532 10051797 CV193925 NM_201384.3(PLEC):c.5471C>T (p.Ala1824Val) variant DOID:9003881 Epidermolysis Bullosa Simplex 5C with Pyloric Atresia IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with pyloric atresia PMID:25741868|PMID:26467025|PMID:28492532 10051798 CV193926 NM_201384.3(PLEC):c.6198G>T (p.Gln2066His) variant DOID:0060736 epidermolysis bullosa simplex Ogna type IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Ogna type PMID:26467025|PMID:28492532 10051798 CV193926 NM_201384.3(PLEC):c.6198G>T (p.Gln2066His) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy PMID:26467025|PMID:28492532 10051798 CV193926 NM_201384.3(PLEC):c.6198G>T (p.Gln2066His) variant DOID:0110285 autosomal recessive limb-girdle muscular dystrophy type 2Q IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2Q PMID:26467025|PMID:28492532 10051798 CV193926 NM_201384.3(PLEC):c.6198G>T (p.Gln2066His) variant DOID:9001254 Epidermolysis Bullosa Simplex 5D with Nail Dystrophy IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy PMID:26467025|PMID:28492532 10051798 CV193926 NM_201384.3(PLEC):c.6198G>T (p.Gln2066His) variant DOID:9003881 Epidermolysis Bullosa Simplex 5C with Pyloric Atresia IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with pyloric atresia PMID:26467025|PMID:28492532 10051800 CV193928 NM_201384.3(PLEC):c.5315C>T (p.Ala1772Val) variant DOID:0060733 junctional epidermolysis bullosa with pyloric atresia IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Junctional epidermolysis bullosa with pyloric atresia PMID:25741868|PMID:28492532 10051800 CV193928 NM_201384.3(PLEC):c.5315C>T (p.Ala1772Val) variant DOID:0060736 epidermolysis bullosa simplex Ogna type IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX 5A, OGNA TYPE PMID:25741868|PMID:28492532 10051800 CV193928 NM_201384.3(PLEC):c.5315C>T (p.Ala1772Val) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy PMID:25741868|PMID:28492532 10051800 CV193928 NM_201384.3(PLEC):c.5315C>T (p.Ala1772Val) variant DOID:0110285 autosomal recessive limb-girdle muscular dystrophy type 2Q IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2Q PMID:25741868|PMID:28492532 10051800 CV193928 NM_201384.3(PLEC):c.5315C>T (p.Ala1772Val) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10051800 CV193928 NM_201384.3(PLEC):c.5315C>T (p.Ala1772Val) variant DOID:9001254 Epidermolysis Bullosa Simplex 5D with Nail Dystrophy IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy PMID:25741868|PMID:28492532 10051800 CV193928 NM_201384.3(PLEC):c.5315C>T (p.Ala1772Val) variant DOID:9003881 Epidermolysis Bullosa Simplex 5C with Pyloric Atresia IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX 5C, WITH PYLORIC ATRESIA PMID:25741868|PMID:28492532 10051802 CV193930 NM_001127222.2(CACNA1A):c.5014C>T (p.Arg1672Cys) variant DOID:0050990 episodic ataxia type 2 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532|PMID:28742085|PMID:29056246|PMID:31015257|PMID:35600082 10051802 CV193930 NM_001127222.2(CACNA1A):c.5014C>T (p.Arg1672Cys) variant DOID:0080454 developmental and epileptic encephalopathy 42 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 42 PMID:28492532|PMID:28742085|PMID:29056246|PMID:31015257|PMID:35600082 10051806 CV193934 NM_001297.5(CNGB1):c.3305G>A (p.Arg1102Gln) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532 10051807 CV193935 NM_001458.5(FLNC):c.5375C>T (p.Ala1792Val) variant DOID:0080096 myofibrillar myopathy 5 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 5 PMID:25741868|PMID:28492532 10051807 CV193935 NM_001458.5(FLNC):c.5375C>T (p.Ala1792Val) variant DOID:0110327 hypertrophic cardiomyopathy 26 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 26 PMID:25741868|PMID:28492532 10051807 CV193935 NM_001458.5(FLNC):c.5375C>T (p.Ala1792Val) variant DOID:0111190 distal myopathy 4 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Distal myopathy with posterior leg and anterior hand involvement PMID:25741868|PMID:28492532 10051807 CV193935 NM_001458.5(FLNC):c.5375C>T (p.Ala1792Val) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant PMID:25741868|PMID:28492532 10051809 CV193938 NM_001852.4(COL9A2):c.2019G>A (p.Ser673=) variant DOID:0070298 multiple epiphyseal dysplasia 2 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, 2 PMID:25741868|PMID:28492532 10051810 CV193939 NM_001852.4(COL9A2):c.1982C>T (p.Pro661Leu) variant DOID:0070298 multiple epiphyseal dysplasia 2 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, 2 PMID:25741868|PMID:28492532 10051810 CV193939 NM_001852.4(COL9A2):c.1982C>T (p.Pro661Leu) variant DOID:65 connective tissue disease IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 10051811 CV193941 NM_001999.4(FBN2):c.4151G>A (p.Cys1384Tyr) variant DOID:0111595 congenital contractural arachnodactyly IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Congenital contractural arachnodactyly PMID:16677079|PMID:18767143|PMID:19006240|PMID:25741868|PMID:28492532|PMID:31316167|PMID:3495735|PMID:4750422 10051812 CV193942 NM_001999.4(FBN2):c.4100-9G>T variant DOID:0111595 congenital contractural arachnodactyly IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Congenital contractural arachnodactyly PMID:25741868|PMID:28492532 10051813 CV193943 NM_003482.4(KMT2D):c.8047-7dup variant DOID:0060473 Kabuki syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Kabuki syndrome PMID:25741868|PMID:26467025|PMID:28492532 10051816 CV193947 NM_006031.6(PCNT):c.7136C>T (p.Pro2379Leu) variant DOID:0060609 microcephalic osteodysplastic primordial dwarfism type II IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism type II PMID:25741868|PMID:28492532 10051818 CV193950 NM_017780.4(CHD7):c.6822T>C (p.Ala2274=) variant DOID:0050834 CHARGE syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: CHARGE association PMID:21158681|PMID:22461308|PMID:24033266|PMID:25741868|PMID:28492532 10051818 CV193950 NM_017780.4(CHD7):c.6822T>C (p.Ala2274=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21158681|PMID:22461308|PMID:24033266|PMID:25741868|PMID:28492532 10051819 CV193951 NM_152564.5(VPS13B):c.4950-9A>G variant DOID:0111590 Cohen syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:26467025|PMID:28492532 10051819 CV193951 NM_152564.5(VPS13B):c.4950-9A>G variant DOID:9001162 Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness PMID:26467025|PMID:28492532 10051820 CV193952 NM_022124.6(CDH23):c.3802G>A (p.Val1268Met) variant DOID:0050439 Usher syndrome IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness PMID:24033266|PMID:25741868|PMID:28492532 10051820 CV193952 NM_022124.6(CDH23):c.3802G>A (p.Val1268Met) variant DOID:0110826 Usher syndrome type 1 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1 PMID:24033266|PMID:25741868|PMID:28492532 10051821 CV193953 NM_024408.4(NOTCH2):c.5871G>A (p.Glu1957=) variant DOID:2736 Hajdu-Cheney syndrome IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Hajdu-Cheney syndrome PMID:28492532 10051822 CV193954 NM_025114.4(CEP290):c.4150C>T (p.Arg1384Cys) variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:25741868|PMID:28492532 10051822 CV193954 NM_025114.4(CEP290):c.4150C>T (p.Arg1384Cys) variant DOID:0070118 Meckel syndrome 4 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 4 PMID:25741868|PMID:28492532 10051822 CV193954 NM_025114.4(CEP290):c.4150C>T (p.Arg1384Cys) variant DOID:0110291 Leber congenital amaurosis 10 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 10 PMID:25741868|PMID:28492532 10051822 CV193954 NM_025114.4(CEP290):c.4150C>T (p.Arg1384Cys) variant DOID:0111000 Joubert syndrome 5 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Joubert syndrome 5 PMID:25741868|PMID:28492532 10051822 CV193954 NM_025114.4(CEP290):c.4150C>T (p.Arg1384Cys) variant DOID:14791 Leber congenital amaurosis IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:25741868|PMID:28492532 10051823 CV193955 NM_025114.4(CEP290):c.4031T>C (p.Val1344Ala) variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:25741868|PMID:28492532 10051823 CV193955 NM_025114.4(CEP290):c.4031T>C (p.Val1344Ala) variant DOID:0070118 Meckel syndrome 4 IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: CEP290-related disorder PMID:25741868|PMID:28492532 10051823 CV193955 NM_025114.4(CEP290):c.4031T>C (p.Val1344Ala) variant DOID:0110291 Leber congenital amaurosis 10 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 10 PMID:25741868|PMID:28492532 10051823 CV193955 NM_025114.4(CEP290):c.4031T>C (p.Val1344Ala) variant DOID:14791 Leber congenital amaurosis IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:25741868|PMID:28492532 10051823 CV193955 NM_025114.4(CEP290):c.4031T>C (p.Val1344Ala) variant DOID:630 genetic disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10051824 CV193956 NM_025114.4(CEP290):c.4102G>A (p.Asp1368Asn) variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:25741868|PMID:28492532 10051824 CV193956 NM_025114.4(CEP290):c.4102G>A (p.Asp1368Asn) variant DOID:14791 Leber congenital amaurosis IAGP D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:25741868|PMID:28492532 10051824 CV193956 NM_025114.4(CEP290):c.4102G>A (p.Asp1368Asn) variant DOID:630 genetic disease IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10051825 CV193957 NM_031407.7(HUWE1):c.3663G>A (p.Ser1221=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10051827 CV193960 NM_182961.4(SYNE1):c.4107T>A (p.Phe1369Leu) variant DOID:0070249 autosomal dominant Emery-Dreifuss muscular dystrophy 4 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant PMID:25741868|PMID:26467025|PMID:28492532 10051827 CV193960 NM_182961.4(SYNE1):c.4107T>A (p.Phe1369Leu) variant DOID:0111618 autosomal recessive spinocerebellar ataxia 8 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 PMID:25741868|PMID:26467025|PMID:28492532 10051828 CV193961 NM_001267550.2(TTN):c.7469G>A (p.Arg2490His) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868 10051828 CV193961 NM_001267550.2(TTN):c.7469G>A (p.Arg2490His) variant DOID:0080991 congenital myopathy 1B IAGP D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Minicore myopathy PMID:25741868 10051829 CV193962 NM_001267550.2(TTN):c.7523A>G (p.His2508Arg) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10051829 CV193962 NM_001267550.2(TTN):c.7523A>G (p.His2508Arg) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Myopathy, early-onset, with fatal cardiomyopathy PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10051829 CV193962 NM_001267550.2(TTN):c.7523A>G (p.His2508Arg) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10 PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10051829 CV193962 NM_001267550.2(TTN):c.7523A>G (p.His2508Arg) variant DOID:0110315 hypertrophic cardiomyopathy 9 IAGP D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 9 PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10051829 CV193962 NM_001267550.2(TTN):c.7523A>G (p.His2508Arg) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10051829 CV193962 NM_001267550.2(TTN):c.7523A>G (p.His2508Arg) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10051829 CV193962 NM_001267550.2(TTN):c.7523A>G (p.His2508Arg) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10051830 CV193965 NM_138694.4(PKHD1):c.5100C>T (p.Thr1700=) variant DOID:0080212 polycystic kidney disease 4 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease 4 PMID:25741868|PMID:28492532 10051830 CV193965 NM_138694.4(PKHD1):c.5100C>T (p.Thr1700=) variant DOID:0110861 autosomal recessive polycystic kidney disease IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease PMID:25741868|PMID:28492532 10051831 CV193966 NM_138694.4(PKHD1):c.4920A>G (p.Val1640=) variant DOID:0080322 polycystic kidney disease IAGP D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease PMID:12874454|PMID:25741868|PMID:28492532 10051831 CV193966 NM_138694.4(PKHD1):c.4920A>G (p.Val1640=) variant DOID:0110861 autosomal recessive polycystic kidney disease IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease PMID:12874454|PMID:25741868|PMID:28492532 10051833 CV193968 NM_138694.4(PKHD1):c.5060T>C (p.Ile1687Thr) variant DOID:0080212 polycystic kidney disease 4 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease 4 PMID:15698423|PMID:15706593|PMID:25741868|PMID:28492532|PMID:32574212 10051833 CV193968 NM_138694.4(PKHD1):c.5060T>C (p.Ile1687Thr) variant DOID:0110861 autosomal recessive polycystic kidney disease IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease PMID:15698423|PMID:15706593|PMID:25741868|PMID:28492532|PMID:32574212 10051834 CV193969 NM_201384.3(PLEC):c.8607G>A (p.Glu2869=) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy PMID:28492532 10051835 CV193970 NM_201384.3(PLEC):c.12080A>G (p.Gln4027Arg) variant DOID:630 genetic disease IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10051837 CV193973 NM_201384.3(PLEC):c.11720C>T (p.Thr3907Met) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:25741868|PMID:26467025|PMID:28492532 10051838 CV193974 NM_201384.3(PLEC):c.10744G>A (p.Gly3582Ser) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:25741868|PMID:28492532 10051838 CV193974 NM_201384.3(PLEC):c.10744G>A (p.Gly3582Ser) variant DOID:630 genetic disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10051839 CV193975 NM_201384.3(PLEC):c.13071C>T (p.Cys4357=) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy PMID:28492532 10051840 CV193976 NM_201384.3(PLEC):c.13533C>T (p.Ser4511=) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:28492532 10051841 CV193977 NM_201384.3(PLEC):c.8182A>G (p.Ile2728Val) variant DOID:0060736 epidermolysis bullosa simplex Ogna type IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Ogna type PMID:25741868|PMID:26467025|PMID:28492532 10051841 CV193977 NM_201384.3(PLEC):c.8182A>G (p.Ile2728Val) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy PMID:25741868|PMID:26467025|PMID:28492532 10051841 CV193977 NM_201384.3(PLEC):c.8182A>G (p.Ile2728Val) variant DOID:0110285 autosomal recessive limb-girdle muscular dystrophy type 2Q IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2Q PMID:25741868|PMID:26467025|PMID:28492532 10051841 CV193977 NM_201384.3(PLEC):c.8182A>G (p.Ile2728Val) variant DOID:9001254 Epidermolysis Bullosa Simplex 5D with Nail Dystrophy IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy PMID:25741868|PMID:26467025|PMID:28492532 10051841 CV193977 NM_201384.3(PLEC):c.8182A>G (p.Ile2728Val) variant DOID:9003881 Epidermolysis Bullosa Simplex 5C with Pyloric Atresia IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with pyloric atresia PMID:25741868|PMID:26467025|PMID:28492532 10051842 CV193978 NM_201384.3(PLEC):c.8506G>A (p.Asp2836Asn) variant DOID:0060736 epidermolysis bullosa simplex Ogna type IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Ogna type PMID:26467025|PMID:28492532 10051842 CV193978 NM_201384.3(PLEC):c.8506G>A (p.Asp2836Asn) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy PMID:26467025|PMID:28492532 10051842 CV193978 NM_201384.3(PLEC):c.8506G>A (p.Asp2836Asn) variant DOID:0110285 autosomal recessive limb-girdle muscular dystrophy type 2Q IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2Q PMID:26467025|PMID:28492532 10051842 CV193978 NM_201384.3(PLEC):c.8506G>A (p.Asp2836Asn) variant DOID:630 genetic disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532 10051842 CV193978 NM_201384.3(PLEC):c.8506G>A (p.Asp2836Asn) variant DOID:9001254 Epidermolysis Bullosa Simplex 5D with Nail Dystrophy IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy PMID:26467025|PMID:28492532 10051842 CV193978 NM_201384.3(PLEC):c.8506G>A (p.Asp2836Asn) variant DOID:9003881 Epidermolysis Bullosa Simplex 5C with Pyloric Atresia IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with pyloric atresia PMID:26467025|PMID:28492532 10051844 CV193980 NM_201384.3(PLEC):c.10498C>T (p.Arg3500Cys) variant DOID:0060736 epidermolysis bullosa simplex Ogna type IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Ogna type PMID:23774525|PMID:25741868|PMID:28492532 10051844 CV193980 NM_201384.3(PLEC):c.10498C>T (p.Arg3500Cys) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:23774525|PMID:25741868|PMID:28492532 10051844 CV193980 NM_201384.3(PLEC):c.10498C>T (p.Arg3500Cys) variant DOID:0110285 autosomal recessive limb-girdle muscular dystrophy type 2Q IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2Q PMID:23774525|PMID:25741868|PMID:28492532 10051844 CV193980 NM_201384.3(PLEC):c.10498C>T (p.Arg3500Cys) variant DOID:9001254 Epidermolysis Bullosa Simplex 5D with Nail Dystrophy IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy PMID:23774525|PMID:25741868|PMID:28492532 10051844 CV193980 NM_201384.3(PLEC):c.10498C>T (p.Arg3500Cys) variant DOID:9003881 Epidermolysis Bullosa Simplex 5C with Pyloric Atresia IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with pyloric atresia PMID:23774525|PMID:25741868|PMID:28492532 10051845 CV193981 NM_201384.3(PLEC):c.10533C>G (p.Gly3511=) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:28492532 10051847 CV193983 NM_201384.3(PLEC):c.8051G>A (p.Arg2684Gln) variant DOID:0060736 epidermolysis bullosa simplex Ogna type IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Ogna type PMID:25741868|PMID:26467025|PMID:28492532 10051847 CV193983 NM_201384.3(PLEC):c.8051G>A (p.Arg2684Gln) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy PMID:25741868|PMID:26467025|PMID:28492532 10051847 CV193983 NM_201384.3(PLEC):c.8051G>A (p.Arg2684Gln) variant DOID:0110070 arrhythmogenic right ventricular dysplasia 1 IAGP D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 PMID:25741868|PMID:26467025|PMID:28492532 10051847 CV193983 NM_201384.3(PLEC):c.8051G>A (p.Arg2684Gln) variant DOID:0110285 autosomal recessive limb-girdle muscular dystrophy type 2Q IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2Q PMID:25741868|PMID:26467025|PMID:28492532 10051847 CV193983 NM_201384.3(PLEC):c.8051G>A (p.Arg2684Gln) variant DOID:9001254 Epidermolysis Bullosa Simplex 5D with Nail Dystrophy IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy PMID:25741868|PMID:26467025|PMID:28492532 10051847 CV193983 NM_201384.3(PLEC):c.8051G>A (p.Arg2684Gln) variant DOID:9003881 Epidermolysis Bullosa Simplex 5C with Pyloric Atresia IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with pyloric atresia PMID:25741868|PMID:26467025|PMID:28492532 10051848 CV193984 NM_201384.3(PLEC):c.9333G>A (p.Gly3111=) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy PMID:26467025|PMID:28492532 10051849 CV193985 NM_201384.3(PLEC):c.12190G>A (p.Glu4064Lys) variant DOID:0060736 epidermolysis bullosa simplex Ogna type IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Ogna type PMID:26467025|PMID:28492532|PMID:29050564|PMID:29590070|PMID:31862442 10051849 CV193985 NM_201384.3(PLEC):c.12190G>A (p.Glu4064Lys) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy PMID:26467025|PMID:28492532|PMID:29050564|PMID:29590070|PMID:31862442 10051849 CV193985 NM_201384.3(PLEC):c.12190G>A (p.Glu4064Lys) variant DOID:0110285 autosomal recessive limb-girdle muscular dystrophy type 2Q IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2Q PMID:26467025|PMID:28492532|PMID:29050564|PMID:29590070|PMID:31862442 10051849 CV193985 NM_201384.3(PLEC):c.12190G>A (p.Glu4064Lys) variant DOID:9001254 Epidermolysis Bullosa Simplex 5D with Nail Dystrophy IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy PMID:26467025|PMID:28492532|PMID:29050564|PMID:29590070|PMID:31862442 10051849 CV193985 NM_201384.3(PLEC):c.12190G>A (p.Glu4064Lys) variant DOID:9003881 Epidermolysis Bullosa Simplex 5C with Pyloric Atresia IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with pyloric atresia PMID:26467025|PMID:28492532|PMID:29050564|PMID:29590070|PMID:31862442 10051850 CV193986 NM_201384.3(PLEC):c.12817C>T (p.Pro4273Ser) variant DOID:0060736 epidermolysis bullosa simplex Ogna type IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Ogna type PMID:25741868|PMID:26467025|PMID:28492532 10051850 CV193986 NM_201384.3(PLEC):c.12817C>T (p.Pro4273Ser) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Epidermolysa bullosa simplex and limb girdle muscular dystrophy PMID:25741868|PMID:26467025|PMID:28492532 10051850 CV193986 NM_201384.3(PLEC):c.12817C>T (p.Pro4273Ser) variant DOID:0110285 autosomal recessive limb-girdle muscular dystrophy type 2Q IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17 PMID:25741868|PMID:26467025|PMID:28492532 10051850 CV193986 NM_201384.3(PLEC):c.12817C>T (p.Pro4273Ser) variant DOID:9001254 Epidermolysis Bullosa Simplex 5D with Nail Dystrophy IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy PMID:25741868|PMID:26467025|PMID:28492532 10051850 CV193986 NM_201384.3(PLEC):c.12817C>T (p.Pro4273Ser) variant DOID:9003881 Epidermolysis Bullosa Simplex 5C with Pyloric Atresia IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with pyloric atresia PMID:25741868|PMID:26467025|PMID:28492532 10051851 CV193987 NM_201384.3(PLEC):c.11836C>T (p.Arg3946Trp) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:25741868|PMID:28492532 10051851 CV193987 NM_201384.3(PLEC):c.11836C>T (p.Arg3946Trp) variant DOID:630 genetic disease IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10051853 CV193989 NM_201384.3(PLEC):c.11207C>T (p.Pro3736Leu) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy PMID:25741868|PMID:28492532 10051854 CV193990 NM_201384.3(PLEC):c.11329G>A (p.Glu3777Lys) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:25741868|PMID:26467025|PMID:28492532 10051854 CV193990 NM_201384.3(PLEC):c.11329G>A (p.Glu3777Lys) variant DOID:0110274 autosomal recessive limb-girdle muscular dystrophy IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy PMID:25741868|PMID:26467025|PMID:28492532 10051854 CV193990 NM_201384.3(PLEC):c.11329G>A (p.Glu3777Lys) variant DOID:630 genetic disease IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 10051856 CV193992 NM_201384.3(PLEC):c.12737G>A (p.Arg4246His) variant DOID:0060736 epidermolysis bullosa simplex Ogna type IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Ogna type PMID:28492532 10051856 CV193992 NM_201384.3(PLEC):c.12737G>A (p.Arg4246His) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy PMID:28492532 10051856 CV193992 NM_201384.3(PLEC):c.12737G>A (p.Arg4246His) variant DOID:0110285 autosomal recessive limb-girdle muscular dystrophy type 2Q IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2Q PMID:28492532 10051856 CV193992 NM_201384.3(PLEC):c.12737G>A (p.Arg4246His) variant DOID:9001254 Epidermolysis Bullosa Simplex 5D with Nail Dystrophy IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy PMID:28492532 10051856 CV193992 NM_201384.3(PLEC):c.12737G>A (p.Arg4246His) variant DOID:9003881 Epidermolysis Bullosa Simplex 5C with Pyloric Atresia IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with pyloric atresia PMID:28492532 10051857 CV193993 NM_201384.3(PLEC):c.12232G>A (p.Glu4078Lys) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:25741868|PMID:28492532 10051857 CV193993 NM_201384.3(PLEC):c.12232G>A (p.Glu4078Lys) variant DOID:630 genetic disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10051858 CV193994 NM_201384.3(PLEC):c.10207C>T (p.Arg3403Trp) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:25741868|PMID:26467025|PMID:28492532 10051858 CV193994 NM_201384.3(PLEC):c.10207C>T (p.Arg3403Trp) variant DOID:630 genetic disease IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 10051860 CV193996 NM_201384.3(PLEC):c.11724G>T (p.Ala3908=) variant DOID:0060736 epidermolysis bullosa simplex Ogna type IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Ogna type PMID:28492532 10051860 CV193996 NM_201384.3(PLEC):c.11724G>T (p.Ala3908=) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy PMID:28492532 10051860 CV193996 NM_201384.3(PLEC):c.11724G>T (p.Ala3908=) variant DOID:0110285 autosomal recessive limb-girdle muscular dystrophy type 2Q IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2Q PMID:28492532 10051860 CV193996 NM_201384.3(PLEC):c.11724G>T (p.Ala3908=) variant DOID:9001254 Epidermolysis Bullosa Simplex 5D with Nail Dystrophy IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy PMID:28492532 10051860 CV193996 NM_201384.3(PLEC):c.11724G>T (p.Ala3908=) variant DOID:9003881 Epidermolysis Bullosa Simplex 5C with Pyloric Atresia IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with pyloric atresia PMID:28492532 10051861 CV193997 NM_201384.3(PLEC):c.13287C>A (p.Gly4429=) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy PMID:28492532 10051862 CV193998 NM_201384.3(PLEC):c.10413G>A (p.Thr3471=) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Epidermolysa bullosa simplex and limb girdle muscular dystrophy PMID:28492532 10051863 CV193999 NM_201384.3(PLEC):c.9567G>A (p.Pro3189=) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy PMID:28492532 10051864 CV194000 NM_201384.3(PLEC):c.9034G>A (p.Glu3012Lys) variant DOID:0060736 epidermolysis bullosa simplex Ogna type IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Ogna type PMID:26467025|PMID:28492532 10051864 CV194000 NM_201384.3(PLEC):c.9034G>A (p.Glu3012Lys) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy PMID:26467025|PMID:28492532 10051864 CV194000 NM_201384.3(PLEC):c.9034G>A (p.Glu3012Lys) variant DOID:0110285 autosomal recessive limb-girdle muscular dystrophy type 2Q IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2Q PMID:26467025|PMID:28492532 10051864 CV194000 NM_201384.3(PLEC):c.9034G>A (p.Glu3012Lys) variant DOID:9001254 Epidermolysis Bullosa Simplex 5D with Nail Dystrophy IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy PMID:26467025|PMID:28492532 10051864 CV194000 NM_201384.3(PLEC):c.9034G>A (p.Glu3012Lys) variant DOID:9003881 Epidermolysis Bullosa Simplex 5C with Pyloric Atresia IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with pyloric atresia PMID:26467025|PMID:28492532 10051865 CV194001 NM_201384.3(PLEC):c.8617G>A (p.Glu2873Lys) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY PMID:28492532 10051865 CV194001 NM_201384.3(PLEC):c.8617G>A (p.Glu2873Lys) variant DOID:630 genetic disease IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10051866 CV194002 NM_201384.3(PLEC):c.9049C>T (p.Arg3017Trp) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:25741868|PMID:28492532|PMID:38912134 10051866 CV194002 NM_201384.3(PLEC):c.9049C>T (p.Arg3017Trp) variant DOID:630 genetic disease IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:38912134 10051867 CV194003 NM_201384.3(PLEC):c.8236C>T (p.Arg2746Trp) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:25741868|PMID:28492532 10051868 CV194004 NM_201384.3(PLEC):c.12978C>T (p.Thr4326=) variant DOID:0060736 epidermolysis bullosa simplex Ogna type IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Ogna type PMID:28492532 10051868 CV194004 NM_201384.3(PLEC):c.12978C>T (p.Thr4326=) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy PMID:28492532 10051868 CV194004 NM_201384.3(PLEC):c.12978C>T (p.Thr4326=) variant DOID:0110285 autosomal recessive limb-girdle muscular dystrophy type 2Q IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2Q PMID:28492532 10051868 CV194004 NM_201384.3(PLEC):c.12978C>T (p.Thr4326=) variant DOID:9001254 Epidermolysis Bullosa Simplex 5D with Nail Dystrophy IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy PMID:28492532 10051868 CV194004 NM_201384.3(PLEC):c.12978C>T (p.Thr4326=) variant DOID:9003881 Epidermolysis Bullosa Simplex 5C with Pyloric Atresia IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with pyloric atresia PMID:28492532 10051869 CV194005 NM_201384.3(PLEC):c.9475G>A (p.Ala3159Thr) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:25741868|PMID:26467025|PMID:28492532 10051869 CV194005 NM_201384.3(PLEC):c.9475G>A (p.Ala3159Thr) variant DOID:630 genetic disease IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 10051870 CV194006 NM_201384.3(PLEC):c.10444C>T (p.Arg3482Cys) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:25741868|PMID:28492532 10051871 CV194007 NM_201384.3(PLEC):c.8750T>G (p.Phe2917Cys) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:25741868|PMID:28492532 10051872 CV194008 NM_201384.3(PLEC):c.12671C>G (p.Ala4224Gly) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Epidermolysa bullosa simplex and limb girdle muscular dystrophy PMID:25741868|PMID:28492532 10051872 CV194008 NM_201384.3(PLEC):c.12671C>G (p.Ala4224Gly) variant DOID:630 genetic disease IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10051873 CV194009 NM_201384.3(PLEC):c.11066C>T (p.Thr3689Met) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX AND LIMB-GIRDLE MUSCULAR DYSTROPHY PMID:25741868|PMID:28492532 10051874 CV194010 NM_201384.3(PLEC):c.10203C>T (p.Pro3401=) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:24292195|PMID:25741868|PMID:26467025|PMID:28492532 10051875 CV194011 NM_201384.3(PLEC):c.7911G>A (p.Ala2637=) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:28492532 10051876 CV194012 NM_201384.3(PLEC):c.11573C>T (p.Thr3858Met) variant DOID:0060733 junctional epidermolysis bullosa with pyloric atresia IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5B, WITH PYLORIC ATRESIA PMID:25741868|PMID:28492532 10051876 CV194012 NM_201384.3(PLEC):c.11573C>T (p.Thr3858Met) variant DOID:0060736 epidermolysis bullosa simplex Ogna type IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Ogna type PMID:25741868|PMID:28492532 10051876 CV194012 NM_201384.3(PLEC):c.11573C>T (p.Thr3858Met) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy PMID:25741868|PMID:28492532 10051876 CV194012 NM_201384.3(PLEC):c.11573C>T (p.Thr3858Met) variant DOID:0110285 autosomal recessive limb-girdle muscular dystrophy type 2Q IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2Q PMID:25741868|PMID:28492532 10051876 CV194012 NM_201384.3(PLEC):c.11573C>T (p.Thr3858Met) variant DOID:9001254 Epidermolysis Bullosa Simplex 5D with Nail Dystrophy IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy PMID:25741868|PMID:28492532 10051876 CV194012 NM_201384.3(PLEC):c.11573C>T (p.Thr3858Met) variant DOID:9003881 Epidermolysis Bullosa Simplex 5C with Pyloric Atresia IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with pyloric atresia PMID:25741868|PMID:28492532 10051877 CV194013 NM_201384.3(PLEC):c.12642C>T (p.Ile4214=) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy PMID:26467025|PMID:28492532 10051878 CV194014 NM_201384.3(PLEC):c.13111G>A (p.Ala4371Thr) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:25741868|PMID:26467025|PMID:28492532|PMID:38818036 10051878 CV194014 NM_201384.3(PLEC):c.13111G>A (p.Ala4371Thr) variant DOID:630 genetic disease IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532|PMID:38818036 10051879 CV194015 NM_201384.3(PLEC):c.12992C>T (p.Pro4331Leu) variant DOID:0060736 epidermolysis bullosa simplex Ogna type IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Ogna type PMID:25741868|PMID:26467025|PMID:28492532 10051879 CV194015 NM_201384.3(PLEC):c.12992C>T (p.Pro4331Leu) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy PMID:25741868|PMID:26467025|PMID:28492532 10051879 CV194015 NM_201384.3(PLEC):c.12992C>T (p.Pro4331Leu) variant DOID:0110285 autosomal recessive limb-girdle muscular dystrophy type 2Q IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2Q PMID:25741868|PMID:26467025|PMID:28492532 10051879 CV194015 NM_201384.3(PLEC):c.12992C>T (p.Pro4331Leu) variant DOID:2377 multiple sclerosis IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Multiple sclerosis PMID:25741868|PMID:26467025|PMID:28492532 10051879 CV194015 NM_201384.3(PLEC):c.12992C>T (p.Pro4331Leu) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 10051879 CV194015 NM_201384.3(PLEC):c.12992C>T (p.Pro4331Leu) variant DOID:9001254 Epidermolysis Bullosa Simplex 5D with Nail Dystrophy IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy PMID:25741868|PMID:26467025|PMID:28492532 10051879 CV194015 NM_201384.3(PLEC):c.12992C>T (p.Pro4331Leu) variant DOID:9003881 Epidermolysis Bullosa Simplex 5C with Pyloric Atresia IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with pyloric atresia PMID:25741868|PMID:26467025|PMID:28492532 10051880 CV194016 NM_201384.3(PLEC):c.10607C>T (p.Thr3536Met) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy PMID:25741868|PMID:28492532 10051880 CV194016 NM_201384.3(PLEC):c.10607C>T (p.Thr3536Met) variant DOID:630 genetic disease IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10051881 CV194017 NM_201384.3(PLEC):c.12601C>T (p.Arg4201Cys) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy PMID:28492532 10051883 CV194019 NM_201384.3(PLEC):c.7822G>A (p.Ala2608Thr) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:25741868|PMID:28492532 10051883 CV194019 NM_201384.3(PLEC):c.7822G>A (p.Ala2608Thr) variant DOID:630 genetic disease IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10051884 CV194020 NM_201384.3(PLEC):c.9153C>T (p.Ser3051=) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy PMID:28492532 10051885 CV194021 NM_001127222.2(CACNA1A):c.5095G>A (p.Ala1699Thr) variant DOID:0050990 episodic ataxia type 2 IAGP D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 10051885 CV194021 NM_001127222.2(CACNA1A):c.5095G>A (p.Ala1699Thr) variant DOID:630 genetic disease IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10051888 CV194028 NM_005045.4(RELN):c.4872A>G (p.Gln1624=) variant DOID:0060751 familial temporal lobe epilepsy 7 IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Familial temporal lobe epilepsy 7 PMID:25741868|PMID:28492532 10051888 CV194028 NM_005045.4(RELN):c.4872A>G (p.Gln1624=) variant DOID:0060902 Norman-Roberts syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Norman-Roberts syndrome PMID:25741868|PMID:28492532 10051889 CV194029 NM_006445.4(PRPF8):c.5352C>T (p.Asn1784=) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant PMID:28492532 10051889 CV194029 NM_006445.4(PRPF8):c.5352C>T (p.Asn1784=) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532 10051894 CV194040 NM_182914.3(SYNE2):c.4846T>C (p.Phe1616Leu) variant DOID:0070250 autosomal dominant Emery-Dreifuss muscular dystrophy 5 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 5, autosomal dominant PMID:28492532 10051895 CV194042 NM_000426.4(LAMA2):c.4926A>G (p.Thr1642=) variant DOID:0110636 congenital merosin-deficient muscular dystrophy 1A IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Laminin alpha 2-related dystrophy PMID:25741868|PMID:28492532 10051895 CV194042 NM_000426.4(LAMA2):c.4926A>G (p.Thr1642=) variant DOID:9007352 Congenital Muscular Dystrophy due to Partial LAMA2 Deficiency IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy due to partial LAMA2 deficiency PMID:25741868|PMID:28492532 10051896 CV194043 NM_000540.3(RYR1):c.5364T>G (p.Ala1788=) variant DOID:8545 malignant hyperthermia IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Malignant hyperpyrexia PMID:25741868|PMID:28492532 10051896 CV194043 NM_000540.3(RYR1):c.5364T>G (p.Ala1788=) variant DOID:9005320 Malignant Fever IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Pharmacogenic myopathy PMID:25741868|PMID:28492532 10051897 CV194044 NM_000540.3(RYR1):c.5336C>T (p.Pro1779Leu) variant DOID:8545 malignant hyperthermia IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 PMID:25741868 10051898 CV194046 NM_000548.5(TSC2):c.4077C>T (p.Ile1359=) variant DOID:0080325 tuberous sclerosis 2 IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:25741868|PMID:28492532 10051898 CV194046 NM_000548.5(TSC2):c.4077C>T (p.Ile1359=) variant DOID:13515 tuberous sclerosis IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis syndrome PMID:25741868|PMID:28492532 10051898 CV194046 NM_000548.5(TSC2):c.4077C>T (p.Ile1359=) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532 10051899 CV194050 NM_001844.5(COL2A1):c.2286G>A (p.Gly762=) variant DOID:0080676 Stickler syndrome 1 IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Arthroophthalmopathy, hereditary progressive PMID:28492532 10051900 CV194051 NM_001851.6(COL9A1):c.2159G>A (p.Arg720Gln) variant DOID:5723 optic atrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:25741868|PMID:28492532 10051900 CV194051 NM_001851.6(COL9A1):c.2159G>A (p.Arg720Gln) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532 10051901 CV194052 NM_001105206.3(LAMA4):c.4678C>A (p.Arg1560=) variant DOID:0110438 dilated cardiomyopathy 1JJ IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: LAMA4-related condition PMID:24033266|PMID:28492532 10051902 CV194053 NM_003482.4(KMT2D):c.9212G>A (p.Arg3071Lys) variant DOID:0060473 Kabuki syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kabuki syndrome PMID:25741868|PMID:28492532|PMID:29168297 10051902 CV194053 NM_003482.4(KMT2D):c.9212G>A (p.Arg3071Lys) variant DOID:9001255 Kabuki Syndrome 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 1 PMID:25741868|PMID:28492532|PMID:29168297 10051903 CV194054 NM_003482.4(KMT2D):c.8924G>A (p.Arg2975His) variant DOID:0060473 Kabuki syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kabuki syndrome PMID:28492532 10051904 CV194055 NM_003482.4(KMT2D):c.9502A>G (p.Met3168Val) variant DOID:0060473 Kabuki syndrome IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kabuki syndrome PMID:28492532 10051905 CV194056 NM_001130987.2(DYSF):c.3814C>T (p.Arg1272Trp) variant DOID:0070199 Miyoshi muscular dystrophy 1 IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Miyoshi muscular dystrophy 1 PMID:25741868|PMID:26467025|PMID:28492532 10051905 CV194056 NM_001130987.2(DYSF):c.3814C>T (p.Arg1272Trp) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 10051906 CV194057 NM_004006.3(DMD):c.4811C>G (p.Pro1604Arg) variant DOID:11723 Duchenne muscular dystrophy IAGP D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:28492532 10051906 CV194057 NM_004006.3(DMD):c.4811C>G (p.Pro1604Arg) variant DOID:9883 Becker muscular dystrophy IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Becker muscular dystrophy PMID:28492532 10051907 CV194059 NM_001164508.2(NEB):c.3637G>A (p.Val1213Ile) variant DOID:0110928 nemaline myopathy 2 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 2 PMID:25741868|PMID:28492532 10051907 CV194059 NM_001164508.2(NEB):c.3637G>A (p.Val1213Ile) variant DOID:2913 acute pancreatitis IAGP D RGD:405850206 20250917 GWAS_CATALOG Based on the EFO term ID PMID:27114598 10051908 CV194060 NM_001164508.2(NEB):c.3721G>T (p.Val1241Leu) variant DOID:0110928 nemaline myopathy 2 IAGP D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 2 PMID:28492532 10051908 CV194060 NM_001164508.2(NEB):c.3721G>T (p.Val1241Leu) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10051909 CV194061 NM_001164508.2(NEB):c.3623T>C (p.Ile1208Thr) variant DOID:0070336 arthrogryposis multiplex congenita-6 IAGP D RGD:8554872 20250821 ClinVar ClinVar Annotator: match by term: NEB-related disorder PMID:25741868|PMID:26467025|PMID:28492532 10051909 CV194061 NM_001164508.2(NEB):c.3623T>C (p.Ile1208Thr) variant DOID:0110928 nemaline myopathy 2 IAGP D RGD:8554872 20180807 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 2 PMID:25741868|PMID:26467025|PMID:28492532 10051910 CV194062 NM_005045.4(RELN):c.5200C>G (p.Leu1734Val) variant DOID:0050453 lissencephaly IAGP D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Lissencephaly PMID:25741868|PMID:26467025|PMID:28492532|PMID:29671837 10051910 CV194062 NM_005045.4(RELN):c.5200C>G (p.Leu1734Val) variant DOID:0060902 Norman-Roberts syndrome IAGP D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Norman-Roberts syndrome PMID:25741868|PMID:26467025|PMID:28492532|PMID:29671837 10051910 CV194062 NM_005045.4(RELN):c.5200C>G (p.Leu1734Val) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532|PMID:29671837 10051911 CV194065 NM_005120.3(MED12):c.4620G>A (p.Val1540=) variant DOID:14711 FG syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: FG syndrome PMID:28492532 10051912 CV194066 NM_005120.3(MED12):c.4669T>C (p.Trp1557Arg) variant DOID:9007898 FG Syndrome 1 IAGP D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: FG syndrome 1 PMID:20301719|PMID:33913598 10051916 CV194070 NM_006662.3(SRCAP):c.9444T>C (p.Ser3148=) variant DOID:0111358 Floating-Harbor syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Floating-Harbor syndrome PMID:25741868|PMID:28492532 10051918 CV194072 NM_006662.3(SRCAP):c.8380C>T (p.Arg2794Cys) variant DOID:0111358 Floating-Harbor syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Floating-Harbor syndrome PMID:25741868|PMID:28492532 10051919 CV194073 NM_006662.3(SRCAP):c.7248C>T (p.Ser2416=) variant DOID:0111358 Floating-Harbor syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: SRCAP-related condition PMID:28492532 10051921 CV194077 NM_017780.4(CHD7):c.7595C>T (p.Thr2532Met) variant DOID:0050834 CHARGE syndrome IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: CHARGE association PMID:25741868|PMID:28492532 10051921 CV194077 NM_017780.4(CHD7):c.7595C>T (p.Thr2532Met) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10051922 CV194078 NM_152564.5(VPS13B):c.5741G>A (p.Arg1914Gln) variant DOID:0111590 Cohen syndrome IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Pepper syndrome PMID:25741868|PMID:28492532 10051922 CV194078 NM_152564.5(VPS13B):c.5741G>A (p.Arg1914Gln) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10051922 CV194078 NM_152564.5(VPS13B):c.5741G>A (p.Arg1914Gln) variant DOID:9001162 Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness PMID:25741868|PMID:28492532 10051923 CV194079 NM_152564.5(VPS13B):c.5606C>T (p.Thr1869Met) variant DOID:0111590 Cohen syndrome IAGP D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:25741868|PMID:26467025|PMID:28492532 10051923 CV194079 NM_152564.5(VPS13B):c.5606C>T (p.Thr1869Met) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 10051923 CV194079 NM_152564.5(VPS13B):c.5606C>T (p.Thr1869Met) variant DOID:9001162 Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness PMID:25741868|PMID:26467025|PMID:28492532 10051924 CV194080 NM_152564.5(VPS13B):c.5396G>A (p.Arg1799His) variant DOID:0111590 Cohen syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:25741868|PMID:28492532 10051924 CV194080 NM_152564.5(VPS13B):c.5396G>A (p.Arg1799His) variant DOID:630 genetic disease IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10051924 CV194080 NM_152564.5(VPS13B):c.5396G>A (p.Arg1799His) variant DOID:9001162 Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness PMID:25741868|PMID:28492532 10051925 CV194081 NM_152564.5(VPS13B):c.5761A>G (p.Thr1921Ala) variant DOID:0111590 Cohen syndrome IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:25741868|PMID:28492532 10051926 CV194082 NM_152564.5(VPS13B):c.5890T>C (p.Ser1964Pro) variant DOID:0111590 Cohen syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Pepper syndrome PMID:28492532 10051926 CV194082 NM_152564.5(VPS13B):c.5890T>C (p.Ser1964Pro) variant DOID:630 genetic disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10051926 CV194082 NM_152564.5(VPS13B):c.5890T>C (p.Ser1964Pro) variant DOID:9001162 Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness PMID:28492532 10051927 CV194084 NM_024408.4(NOTCH2):c.6056G>A (p.Arg2019Gln) variant DOID:2736 Hajdu-Cheney syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hajdu-Cheney syndrome PMID:25741868|PMID:28492532 10051927 CV194084 NM_024408.4(NOTCH2):c.6056G>A (p.Arg2019Gln) variant DOID:9000812 Acroosteolysis Dominant Type IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Acroosteolysis dominant type PMID:25741868|PMID:28492532 10051927 CV194084 NM_024408.4(NOTCH2):c.6056G>A (p.Arg2019Gln) variant DOID:9008932 ALAGILLE SYNDROME 2 IAGP D RGD:8554872 20240213 ClinVar ClinVar Annotator: match by term: Alagille syndrome 2 PMID:25741868|PMID:28492532 10051928 CV194085 NM_024408.4(NOTCH2):c.7413G>A (p.Ala2471=) variant DOID:2736 Hajdu-Cheney syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: NOTCH2-related condition PMID:28492532 10051928 CV194085 NM_024408.4(NOTCH2):c.7413G>A (p.Ala2471=) variant DOID:9000812 Acroosteolysis Dominant Type IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Acroosteolysis dominant type PMID:28492532 10051929 CV194086 NM_024408.4(NOTCH2):c.6956C>T (p.Ala2319Val) variant DOID:2736 Hajdu-Cheney syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Arthrodentoosteodysplasia PMID:28492532 10051929 CV194086 NM_024408.4(NOTCH2):c.6956C>T (p.Ala2319Val) variant DOID:9000812 Acroosteolysis Dominant Type IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Acroosteolysis dominant type PMID:28492532 10051930 CV194087 NM_024408.4(NOTCH2):c.6766C>T (p.Arg2256Cys) variant DOID:2736 Hajdu-Cheney syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: NOTCH2-related condition PMID:28492532 10051930 CV194087 NM_024408.4(NOTCH2):c.6766C>T (p.Arg2256Cys) variant DOID:9000812 Acroosteolysis Dominant Type IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Acroosteolysis dominant type PMID:28492532 10051932 CV194089 NM_025074.7(FRAS1):c.4579C>T (p.Arg1527Trp) variant DOID:0090001 Fraser syndrome IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Cryptophthalmos with other malformations PMID:24700879|PMID:25741868|PMID:28492532|PMID:31308072|PMID:33726816 10051932 CV194089 NM_025074.7(FRAS1):c.4579C>T (p.Arg1527Trp) variant DOID:0111405 Fraser syndrome 1 IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Fraser syndrome 1 PMID:24700879|PMID:25741868|PMID:28492532|PMID:31308072|PMID:33726816 10051932 CV194089 NM_025074.7(FRAS1):c.4579C>T (p.Arg1527Trp) variant DOID:630 genetic disease IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24700879|PMID:25741868|PMID:28492532|PMID:31308072|PMID:33726816 10051933 CV194091 NM_001267550.2(TTN):c.8013C>A (p.Gly2671=) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:28492532 10051933 CV194091 NM_001267550.2(TTN):c.8013C>A (p.Gly2671=) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:28492532 10051935 CV194096 NM_000260.4(MYO7A):c.4757A>G (p.Asn1586Ser) variant DOID:0070655 Usher syndrome type 1B IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1B PMID:24033266|PMID:28492532 10051935 CV194096 NM_000260.4(MYO7A):c.4757A>G (p.Asn1586Ser) variant DOID:630 genetic disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:28492532 10051936 CV194098 NM_000426.4(LAMA2):c.4969G>A (p.Val1657Met) variant DOID:0061132 autosomal recessive limb-girdle muscular dystrophy type 23 IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 PMID:25741868|PMID:26467025|PMID:26607181|PMID:28492532 10051936 CV194098 NM_000426.4(LAMA2):c.4969G>A (p.Val1657Met) variant DOID:0110636 congenital merosin-deficient muscular dystrophy 1A IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Merosin deficient congenital muscular dystrophy PMID:25741868|PMID:26467025|PMID:26607181|PMID:28492532 10051937 CV194100 NM_000540.3(RYR1):c.5736G>A (p.Glu1912=) variant DOID:8545 malignant hyperthermia IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Malignant hyperpyrexia PMID:25741868|PMID:28492532 10051937 CV194100 NM_000540.3(RYR1):c.5736G>A (p.Glu1912=) variant DOID:9005320 Malignant Fever IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Pharmacogenic myopathy PMID:25741868|PMID:28492532 10051938 CV194102 NM_001130438.3(SPTAN1):c.4580A>G (p.Asn1527Ser) variant DOID:0080438 developmental and epileptic encephalopathy 5 IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 5 PMID:25741868|PMID:26467025|PMID:28492532 10051938 CV194102 NM_001130438.3(SPTAN1):c.4580A>G (p.Asn1527Ser) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:25741868|PMID:26467025|PMID:28492532 10051938 CV194102 NM_001130438.3(SPTAN1):c.4580A>G (p.Asn1527Ser) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 10051940 CV194104 NM_001170629.2(CHD8):c.7036G>A (p.Glu2346Lys) variant DOID:630 genetic disease IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10051941 CV194105 NM_001277115.2(DNAH11):c.5936T>C (p.Leu1979Pro) variant DOID:9562 primary ciliary dyskinesia IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 10051942 CV194108 NM_001845.6(COL4A1):c.2903G>A (p.Arg968Gln) variant DOID:0060263 porencephaly IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: PORENCEPHALY, TYPE 1, AUTOSOMAL DOMINANT PMID:25741868|PMID:28492532 10051942 CV194108 NM_001845.6(COL4A1):c.2903G>A (p.Arg968Gln) variant DOID:0090125 brain small vessel disease 1 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Brain small vessel disease 1 with or without ocular anomalies PMID:25741868|PMID:28492532 10051942 CV194108 NM_001845.6(COL4A1):c.2903G>A (p.Arg968Gln) variant DOID:9003529 Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps PMID:25741868|PMID:28492532 10051943 CV194109 NM_001848.3(COL6A1):c.2821C>T (p.Leu941Phe) variant DOID:0050663 Bethlem myopathy IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Collagen VI-related myopathy PMID:25741868|PMID:28492532 10051943 CV194109 NM_001848.3(COL6A1):c.2821C>T (p.Leu941Phe) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:25741868|PMID:28492532 10051943 CV194109 NM_001848.3(COL6A1):c.2821C>T (p.Leu941Phe) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10051944 CV194110 NM_001848.3(COL6A1):c.2469G>A (p.Thr823=) variant DOID:0050663 Bethlem myopathy IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Collagen VI-related myopathy PMID:25741868|PMID:28492532 10051944 CV194110 NM_001848.3(COL6A1):c.2469G>A (p.Thr823=) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:25741868|PMID:28492532 10051945 CV194111 NM_001848.3(COL6A1):c.2891G>A (p.Arg964Gln) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:25741868|PMID:28492532 10051947 CV194113 NM_001848.3(COL6A1):c.2507G>A (p.Gly836Asp) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:28492532 10051948 CV194114 NM_001848.3(COL6A1):c.2866G>A (p.Glu956Lys) variant DOID:0050663 Bethlem myopathy IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Collagen VI-related myopathy PMID:25741868|PMID:28492532 10051948 CV194114 NM_001848.3(COL6A1):c.2866G>A (p.Glu956Lys) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:25741868|PMID:28492532 10051949 CV194115 NM_001848.3(COL6A1):c.2809A>G (p.Lys937Glu) variant DOID:0050663 Bethlem myopathy IAGP D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Collagen VI-related myopathy PMID:25741868|PMID:26467025|PMID:28492532 10051949 CV194115 NM_001848.3(COL6A1):c.2809A>G (p.Lys937Glu) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:25741868|PMID:26467025|PMID:28492532 10051951 CV194118 NM_005045.4(RELN):c.5350G>A (p.Val1784Met) variant DOID:0060902 Norman-Roberts syndrome IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Norman-Roberts syndrome PMID:28492532 10051952 CV194119 NM_005045.4(RELN):c.5344C>T (p.Arg1782Cys) variant DOID:0060902 Norman-Roberts syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Norman-Roberts syndrome PMID:28492532 10051953 CV194120 NM_001365951.3(KIF1B):c.3925A>G (p.Lys1309Glu) variant DOID:0050539 Charcot-Marie-Tooth disease type 2 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 PMID:28492532 10051955 CV194124 NM_000088.4(COL1A1):c.2508C>T (p.Gly836=) variant DOID:0110334 osteogenesis imperfecta type 1 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type I PMID:28492532 10051955 CV194124 NM_000088.4(COL1A1):c.2508C>T (p.Gly836=) variant DOID:12347 osteogenesis imperfecta IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Lobstein disease PMID:28492532 10051956 CV194125 NM_000089.4(COL1A2):c.2187+6T>A variant DOID:0110334 osteogenesis imperfecta type 1 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type I PMID:17576681|PMID:28492532|PMID:9536098 10051957 CV194126 NM_000090.4(COL3A1):c.2550T>C (p.Pro850=) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10051957 CV194126 NM_000090.4(COL3A1):c.2550T>C (p.Pro850=) variant DOID:14756 vascular type Ehlers-Danlos syndrome IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Ehlers Danlos syndrome, Sack-Barabas type PMID:25741868|PMID:28492532 10051957 CV194126 NM_000090.4(COL3A1):c.2550T>C (p.Pro850=) variant DOID:9001287 Ehlers-Danlos Syndrome Type 4 IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos Syndrome Type IV PMID:25741868|PMID:28492532 10051958 CV194128 NM_001035.3(RYR2):c.4736T>C (p.Val1579Ala) variant DOID:0060674 catecholaminergic polymorphic ventricular tachycardia IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:26743400|PMID:28377322 10051961 CV194131 NM_001369.3(DNAH5):c.5883-6A>G variant DOID:9562 primary ciliary dyskinesia IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 10051963 CV194133 NM_001851.6(COL9A1):c.2436G>T (p.Gln812His) variant DOID:630 genetic disease IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10051965 CV194135 NM_001875.5(CPS1):c.4252C>T (p.Pro1418Ser) variant DOID:9003515 Neonatal Pulmonary Hypertension IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Pulmonary hypertension, neonatal, susceptibility to PMID:25741868|PMID:28492532 10051965 CV194135 NM_001875.5(CPS1):c.4252C>T (p.Pro1418Ser) variant DOID:9280 carbamoyl phosphate synthetase I deficiency disease IAGP D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Congenital hyperammonemia, type I PMID:25741868|PMID:28492532 10051966 CV194136 NM_002471.4(MYH6):c.5491G>A (p.Glu1831Lys) variant DOID:0110108 atrial heart septal defect 3 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Atrial septal defect 3 PMID:25741868|PMID:28492532|PMID:30775854|PMID:30847666 10051966 CV194136 NM_002471.4(MYH6):c.5491G>A (p.Glu1831Lys) variant DOID:0110307 hypertrophic cardiomyopathy 1 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 PMID:25741868|PMID:28492532|PMID:30775854|PMID:30847666 10051966 CV194136 NM_002471.4(MYH6):c.5491G>A (p.Glu1831Lys) variant DOID:0110320 hypertrophic cardiomyopathy 14 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 14 PMID:25741868|PMID:28492532|PMID:30775854|PMID:30847666 10051966 CV194136 NM_002471.4(MYH6):c.5491G>A (p.Glu1831Lys) variant DOID:0110453 dilated cardiomyopathy 1EE IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1EE PMID:25741868|PMID:28492532|PMID:30775854|PMID:30847666 10051966 CV194136 NM_002471.4(MYH6):c.5491G>A (p.Glu1831Lys) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532|PMID:30775854|PMID:30847666 10051966 CV194136 NM_002471.4(MYH6):c.5491G>A (p.Glu1831Lys) variant DOID:9001215 Sick Sinus Syndrome 3 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Sick sinus syndrome 3, susceptibility to PMID:25741868|PMID:28492532|PMID:30775854|PMID:30847666 10051967 CV194137 NM_001130987.2(DYSF):c.3957+9G>A variant DOID:9004518 Dysferlinopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dysferlinopathy PMID:28492532 10051968 CV194138 NM_004369.4(COL6A3):c.7447A>G (p.Lys2483Glu) variant DOID:0050663 Bethlem myopathy IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Myopathy, benign congenital, with contractures PMID:20976770|PMID:25741868|PMID:26247046|PMID:28492532|PMID:28688748|PMID:29970176|PMID:30564623|PMID:30706156|PMID:32403337|PMID:32448721|PMID:32528171|PMID:33596003|PMID:33749658|PMID:35239206 10051968 CV194138 NM_004369.4(COL6A3):c.7447A>G (p.Lys2483Glu) variant DOID:0060946 Ullrich congenital muscular dystrophy 1A IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1A PMID:20976770|PMID:25741868|PMID:26247046|PMID:28492532|PMID:28688748|PMID:29970176|PMID:30564623|PMID:30706156|PMID:32403337|PMID:32448721|PMID:32528171|PMID:33596003|PMID:33749658|PMID:35239206 10051968 CV194138 NM_004369.4(COL6A3):c.7447A>G (p.Lys2483Glu) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:20976770|PMID:25741868|PMID:26247046|PMID:28492532|PMID:28688748|PMID:29970176|PMID:30564623|PMID:30706156|PMID:32403337|PMID:32448721|PMID:32528171|PMID:33596003|PMID:33749658|PMID:35239206 10051968 CV194138 NM_004369.4(COL6A3):c.7447A>G (p.Lys2483Glu) variant DOID:0061200 Bethlem myopathy 1C IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1C PMID:20976770|PMID:25741868|PMID:26247046|PMID:28492532|PMID:28688748|PMID:29970176|PMID:30564623|PMID:30706156|PMID:32403337|PMID:32448721|PMID:32528171|PMID:33596003|PMID:33749658|PMID:35239206 10051968 CV194138 NM_004369.4(COL6A3):c.7447A>G (p.Lys2483Glu) variant DOID:0090050 dystonia 27 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Dystonia 27 PMID:20976770|PMID:25741868|PMID:26247046|PMID:28492532|PMID:28688748|PMID:29970176|PMID:30564623|PMID:30706156|PMID:32403337|PMID:32448721|PMID:32528171|PMID:33596003|PMID:33749658|PMID:35239206 10051969 CV194139 NM_004369.4(COL6A3):c.7175-6C>G variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:28492532 10051970 CV194140 NM_004369.4(COL6A3):c.7224C>G (p.Asp2408Glu) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:28492532 10051970 CV194140 NM_004369.4(COL6A3):c.7224C>G (p.Asp2408Glu) variant DOID:630 genetic disease IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10051971 CV194141 NM_004369.4(COL6A3):c.7514G>T (p.Gly2505Val) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:28492532|PMID:30564623 10051973 CV194143 NM_004369.4(COL6A3):c.7441A>G (p.Thr2481Ala) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:25741868|PMID:28492532 10051974 CV194144 NM_005045.4(RELN):c.5360G>C (p.Arg1787Pro) variant DOID:0060902 Norman-Roberts syndrome IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Norman-Roberts syndrome PMID:28492532 10051975 CV194145 NM_014639.4(SKIC3):c.3710C>T (p.Ala1237Val) variant DOID:0111415 trichohepatoenteric syndrome 1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: SKIC3-related condition PMID:28492532 10051976 CV194146 NM_152564.5(VPS13B):c.6416A>G (p.Asn2139Ser) variant DOID:0111590 Cohen syndrome IAGP D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:25741868|PMID:26467025|PMID:28492532 10051976 CV194146 NM_152564.5(VPS13B):c.6416A>G (p.Asn2139Ser) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 10051976 CV194146 NM_152564.5(VPS13B):c.6416A>G (p.Asn2139Ser) variant DOID:9001162 Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness PMID:25741868|PMID:26467025|PMID:28492532 10051977 CV194147 NM_025074.7(FRAS1):c.4729A>T (p.Thr1577Ser) variant DOID:0111405 Fraser syndrome 1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: FRAS1-related condition PMID:28492532 10051978 CV194148 NM_032119.4(ADGRV1):c.8369A>G (p.Tyr2790Cys) variant DOID:0110839 Usher syndrome type 2C IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome, type 2C PMID:25741868|PMID:28492532 10051978 CV194148 NM_032119.4(ADGRV1):c.8369A>G (p.Tyr2790Cys) variant DOID:630 genetic disease IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10051979 CV194150 NM_138694.4(PKHD1):c.5768A>T (p.Gln1923Leu) variant DOID:0080212 polycystic kidney disease 4 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: PKHD1-related condition PMID:15698423|PMID:25741868|PMID:26489027|PMID:28492532|PMID:34426522 10051979 CV194150 NM_138694.4(PKHD1):c.5768A>T (p.Gln1923Leu) variant DOID:0110860 polycystic kidney disease 3 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: PKD3 PMID:15698423|PMID:25741868|PMID:26489027|PMID:28492532|PMID:34426522 10051979 CV194150 NM_138694.4(PKHD1):c.5768A>T (p.Gln1923Leu) variant DOID:0110861 autosomal recessive polycystic kidney disease IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease PMID:15698423|PMID:25741868|PMID:26489027|PMID:28492532|PMID:34426522 10051979 CV194150 NM_138694.4(PKHD1):c.5768A>T (p.Gln1923Leu) variant DOID:898 autosomal dominant polycystic kidney disease IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1 PMID:15698423|PMID:25741868|PMID:26489027|PMID:28492532|PMID:34426522 10051982 CV194155 NM_000548.5(TSC2):c.4746C>T (p.Ile1582=) variant DOID:0080325 tuberous sclerosis 2 IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:25741868|PMID:28492532 10051982 CV194155 NM_000548.5(TSC2):c.4746C>T (p.Ile1582=) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532 10051983 CV194156 NM_000719.7(CACNA1C):c.4611C>T (p.Arg1537=) variant DOID:0060173 Timothy syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: CACNA1C-related disorder PMID:25741868|PMID:28492532 10051983 CV194156 NM_000719.7(CACNA1C):c.4611C>T (p.Arg1537=) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10051984 CV194157 NM_001035.3(RYR2):c.5712G>A (p.Leu1904=) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10051984 CV194157 NM_001035.3(RYR2):c.5712G>A (p.Leu1904=) variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:25741868|PMID:28492532 10051985 CV194159 NM_001130823.3(DNMT1):c.4428T>G (p.His1476Gln) variant DOID:0050968 autosomal dominant cerebellar ataxia, deafness and narcolepsy IAGP D RGD:8554872 20250821 ClinVar ClinVar Annotator: match by term: DNMT1-related disorder PMID:25741868|PMID:28492532 10051985 CV194159 NM_001130823.3(DNMT1):c.4428T>G (p.His1476Gln) variant DOID:0070158 hereditary sensory neuropathy type 1E IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Hereditary sensory neuropathy type IE PMID:25741868|PMID:28492532 10051985 CV194159 NM_001130823.3(DNMT1):c.4428T>G (p.His1476Gln) variant DOID:630 genetic disease IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10051986 CV194160 NM_001170629.2(CHD8):c.7620C>T (p.Asp2540=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10051987 CV194163 NM_001851.6(COL9A1):c.2562T>C (p.Pro854=) variant DOID:65 connective tissue disease IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 10051988 CV194164 NM_002334.4(LRP4):c.5357T>A (p.Met1786Lys) variant DOID:0060757 sclerosteosis 2 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Sclerosteosis 2 PMID:28492532 10051988 CV194164 NM_002334.4(LRP4):c.5357T>A (p.Met1786Lys) variant DOID:0090015 Cenani-Lenz syndactyly syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Syndactyly type 7 PMID:28492532 10051988 CV194164 NM_002334.4(LRP4):c.5357T>A (p.Met1786Lys) variant DOID:0110674 congenital myasthenic syndrome 17 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 17 PMID:28492532 10051989 CV194165 NM_001130987.2(DYSF):c.4021C>G (p.Gln1341Glu) variant DOID:0070199 Miyoshi muscular dystrophy 1 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Miyoshi muscular dystrophy 1 PMID:25133958|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29970176|PMID:31862442|PMID:35028538|PMID:36983702|PMID:37926714 10051990 CV194166 NM_001130987.2(DYSF):c.3958T>C (p.Ser1320Pro) variant DOID:630 genetic disease IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 10051992 CV194168 NM_001164508.2(NEB):c.4149C>T (p.Thr1383=) variant DOID:0110928 nemaline myopathy 2 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 2 PMID:25741868|PMID:28492532 10051993 CV194169 NM_001164508.2(NEB):c.4272G>C (p.Thr1424=) variant DOID:0110928 nemaline myopathy 2 IAGP D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 2 PMID:23441136|PMID:25741868|PMID:26467025|PMID:28492532 10051994 CV194170 NM_005120.3(MED12):c.5400+6C>T variant DOID:1059 intellectual disability IAGP D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 10051994 CV194170 NM_005120.3(MED12):c.5400+6C>T variant DOID:14711 FG syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: FG syndrome PMID:25741868|PMID:28492532 10051996 CV194173 NM_006445.4(PRPF8):c.5794-3C>G variant DOID:0110403 retinitis pigmentosa 13 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 13 PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 10051997 CV194174 NM_017780.4(CHD7):c.8047C>T (p.Pro2683Ser) variant DOID:0050834 CHARGE syndrome IAGP D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: CHARGE syndrome PMID:21158681|PMID:25741868|PMID:28492532 10051997 CV194174 NM_017780.4(CHD7):c.8047C>T (p.Pro2683Ser) variant DOID:0090084 hypogonadotropic hypogonadism 5 with or without anosmia IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 5 with or without anosmia PMID:21158681|PMID:25741868|PMID:28492532 10051997 CV194174 NM_017780.4(CHD7):c.8047C>T (p.Pro2683Ser) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21158681|PMID:25741868|PMID:28492532 10051998 CV194176 NM_152564.5(VPS13B):c.6487A>G (p.Ile2163Val) variant DOID:0111590 Cohen syndrome IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Cohen syndrome 10052000 CV194179 NM_182961.4(SYNE1):c.4822G>A (p.Ala1608Thr) variant DOID:0070249 autosomal dominant Emery-Dreifuss muscular dystrophy 4 IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant PMID:25741868|PMID:26467025|PMID:28492532|PMID:30564623|PMID:31692161 10052000 CV194179 NM_182961.4(SYNE1):c.4822G>A (p.Ala1608Thr) variant DOID:0111618 autosomal recessive spinocerebellar ataxia 8 IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 PMID:25741868|PMID:26467025|PMID:28492532|PMID:30564623|PMID:31692161 10052000 CV194179 NM_182961.4(SYNE1):c.4822G>A (p.Ala1608Thr) variant DOID:1059 intellectual disability IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:26467025|PMID:28492532|PMID:30564623|PMID:31692161 10052001 CV194181 NM_138694.4(PKHD1):c.6001G>A (p.Glu2001Lys) variant DOID:0080212 polycystic kidney disease 4 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease 4 PMID:25741868|PMID:28492532|PMID:31308072 10052001 CV194181 NM_138694.4(PKHD1):c.6001G>A (p.Glu2001Lys) variant DOID:0110860 polycystic kidney disease 3 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: PKD3 PMID:25741868|PMID:28492532|PMID:31308072 10052001 CV194181 NM_138694.4(PKHD1):c.6001G>A (p.Glu2001Lys) variant DOID:0110861 autosomal recessive polycystic kidney disease IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE, INFANTILE, TYPE I PMID:25741868|PMID:28492532|PMID:31308072 10052001 CV194181 NM_138694.4(PKHD1):c.6001G>A (p.Glu2001Lys) variant DOID:898 autosomal dominant polycystic kidney disease IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1 PMID:25741868|PMID:28492532|PMID:31308072 10052002 CV194183 NM_000138.5(FBN1):c.4746A>G (p.Thr1582=) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10052002 CV194183 NM_000138.5(FBN1):c.4746A>G (p.Thr1582=) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868|PMID:28492532 10052002 CV194183 NM_000138.5(FBN1):c.4746A>G (p.Thr1582=) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:25741868|PMID:28492532 10052003 CV194186 NM_000548.5(TSC2):c.4919A>C (p.His1640Pro) variant DOID:0080325 tuberous sclerosis 2 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:12111193|PMID:28492532 10052004 CV194187 NM_000719.7(CACNA1C):c.4624-8G>A variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10052006 CV194189 NM_001127222.2(CACNA1A):c.5685C>T (p.Thr1895=) variant DOID:0050990 episodic ataxia type 2 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 10052006 CV194189 NM_001127222.2(CACNA1A):c.5685C>T (p.Thr1895=) variant DOID:0080454 developmental and epileptic encephalopathy 42 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 42 PMID:28492532 10052006 CV194189 NM_001127222.2(CACNA1A):c.5685C>T (p.Thr1895=) variant DOID:630 genetic disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10052007 CV194191 NM_002334.4(LRP4):c.5489G>A (p.Arg1830Gln) variant DOID:0090015 Cenani-Lenz syndactyly syndrome IAGP D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: SYNDACTYLY, TYPE VII PMID:28492532 10052009 CV194194 NM_004369.4(COL6A3):c.8415C>T (p.Asn2805=) variant DOID:0050663 Bethlem myopathy IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Collagen VI-related myopathy PMID:28492532 10052009 CV194194 NM_004369.4(COL6A3):c.8415C>T (p.Asn2805=) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:28492532 10052010 CV194195 NM_004369.4(COL6A3):c.8189C>A (p.Ala2730Asp) variant DOID:0050663 Bethlem myopathy IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Myopathy, benign congenital, with contractures PMID:25741868|PMID:26467025|PMID:28492532|PMID:30564623|PMID:37091313 10052010 CV194195 NM_004369.4(COL6A3):c.8189C>A (p.Ala2730Asp) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:25741868|PMID:26467025|PMID:28492532|PMID:30564623|PMID:37091313 10052011 CV194196 NM_020297.4(ABCC9):c.4512+777G>A variant DOID:0060569 hypertrichotic osteochondrodysplasia Cantu type IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Hypertrichotic osteochondrodysplasia Cantu type PMID:25741868|PMID:28492532|PMID:30177324|PMID:34546463 10052011 CV194196 NM_020297.4(ABCC9):c.4512+777G>A variant DOID:0070600 intellectual disability and myopathy syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Intellectual disability and myopathy syndrome PMID:25741868|PMID:28492532|PMID:30177324|PMID:34546463 10052011 CV194196 NM_020297.4(ABCC9):c.4512+777G>A variant DOID:0110451 dilated cardiomyopathy 1O IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1O PMID:25741868|PMID:28492532|PMID:30177324|PMID:34546463 10052011 CV194196 NM_020297.4(ABCC9):c.4512+777G>A variant DOID:9002065 Familial Atrial Fibrillation 12 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 12 PMID:25741868|PMID:28492532|PMID:30177324|PMID:34546463 10052012 CV194197 NM_017780.4(CHD7):c.8446T>C (p.Leu2816=) variant DOID:0050834 CHARGE syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Hall-Hittner syndrome PMID:28492532 10052012 CV194197 NM_017780.4(CHD7):c.8446T>C (p.Leu2816=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10052013 CV194198 NM_017780.4(CHD7):c.8366C>T (p.Ala2789Val) variant DOID:0050834 CHARGE syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CHARGE association PMID:23533228|PMID:25472840|PMID:25741868|PMID:28492532 10052013 CV194198 NM_017780.4(CHD7):c.8366C>T (p.Ala2789Val) variant DOID:630 genetic disease IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23533228|PMID:25472840|PMID:25741868|PMID:28492532 10052014 CV194199 NM_017780.4(CHD7):c.8672A>C (p.Asn2891Thr) variant DOID:0050834 CHARGE syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: CHARGE syndrome PMID:25741868|PMID:28492532 10052015 CV194200 NM_017780.4(CHD7):c.8556C>T (p.Asp2852=) variant DOID:0050834 CHARGE syndrome IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: CHARGE association PMID:28492532 10052016 CV194202 NM_017780.4(CHD7):c.8821A>G (p.Lys2941Glu) variant DOID:0050834 CHARGE syndrome IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: CHARGE association PMID:24033266|PMID:28492532 10052016 CV194202 NM_017780.4(CHD7):c.8821A>G (p.Lys2941Glu) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:28492532 10052017 CV194203 NM_017780.4(CHD7):c.8672A>G (p.Asn2891Ser) variant DOID:0050834 CHARGE syndrome IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: CHARGE association PMID:24033266|PMID:25741868|PMID:28492532 10052017 CV194203 NM_017780.4(CHD7):c.8672A>G (p.Asn2891Ser) variant DOID:0090084 hypogonadotropic hypogonadism 5 with or without anosmia IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 5 with or without anosmia PMID:24033266|PMID:25741868|PMID:28492532 10052017 CV194203 NM_017780.4(CHD7):c.8672A>G (p.Asn2891Ser) variant DOID:630 genetic disease IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 10052017 CV194203 NM_017780.4(CHD7):c.8672A>G (p.Asn2891Ser) variant DOID:9004226 Hittner Hirsch Kreh Syndrome IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome PMID:24033266|PMID:25741868|PMID:28492532 10052018 CV194206 NM_025114.4(CEP290):c.5013-7A>C variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 10052021 CV194211 NM_138694.4(PKHD1):c.6216T>G (p.Pro2072=) variant DOID:0110861 autosomal recessive polycystic kidney disease IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease PMID:28492532 10052022 CV194214 NM_182914.3(SYNE2):c.5575A>G (p.Lys1859Glu) variant DOID:0070250 autosomal dominant Emery-Dreifuss muscular dystrophy 5 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 5, autosomal dominant PMID:25741868|PMID:28492532 10052023 CV194215 NM_000093.5(COL5A1):c.3069C>T (p.Pro1023=) variant DOID:0080727 Ehlers-Danlos syndrome arthrochalasia type 1 IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome type 7A PMID:25741868|PMID:28492532 10052023 CV194215 NM_000093.5(COL5A1):c.3069C>T (p.Pro1023=) variant DOID:13359 Ehlers-Danlos syndrome IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:25741868|PMID:28492532 10052023 CV194215 NM_000093.5(COL5A1):c.3069C>T (p.Pro1023=) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10052023 CV194215 NM_000093.5(COL5A1):c.3069C>T (p.Pro1023=) variant DOID:14720 Ehlers-Danlos syndrome classic type 1 IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:25741868|PMID:28492532 10052024 CV194216 NM_000350.3(ABCA4):c.5549T>C (p.Leu1850Pro) variant DOID:0050817 Stargardt disease IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: STGD PMID:20108432|PMID:23755871|PMID:25741868|PMID:28118664|PMID:28492532|PMID:28559085|PMID:29555955|PMID:31589614|PMID:31964843|PMID:32307445|PMID:32619608|PMID:35119454 10052024 CV194216 NM_000350.3(ABCA4):c.5549T>C (p.Leu1850Pro) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:20108432|PMID:23755871|PMID:25741868|PMID:28118664|PMID:28492532|PMID:28559085|PMID:29555955|PMID:31589614|PMID:31964843|PMID:32307445|PMID:32619608|PMID:35119454 10052024 CV194216 NM_000350.3(ABCA4):c.5549T>C (p.Leu1850Pro) variant DOID:9006630 Stargardt Disease 1 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Stargardt disease 1 PMID:20108432|PMID:23755871|PMID:25741868|PMID:28118664|PMID:28492532|PMID:28559085|PMID:29555955|PMID:31589614|PMID:31964843|PMID:32307445|PMID:32619608|PMID:35119454 10052025 CV194217 NM_000426.4(LAMA2):c.5601T>G (p.Ser1867=) variant DOID:0110636 congenital merosin-deficient muscular dystrophy 1A IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Laminin alpha 2-related dystrophy PMID:28492532 10052026 CV194219 NM_000719.7(CACNA1C):c.4727-10C>T variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10052027 CV194220 NM_000719.7(CACNA1C):c.4760C>T (p.Ala1587Val) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532|PMID:30847666 10052028 CV194221 NM_001130438.3(SPTAN1):c.4950A>G (p.Gln1650=) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 10052028 CV194221 NM_001130438.3(SPTAN1):c.4950A>G (p.Gln1650=) variant DOID:630 genetic disease IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10052029 CV194222 NM_001130987.2(DYSF):c.4254C>T (p.Pro1418=) variant DOID:0110276 autosomal recessive limb-girdle muscular dystrophy type 2B IAGP D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2B PMID:26467025|PMID:28492532 10052030 CV194223 NM_001110556.2(FLNA):c.6412G>T (p.Gly2138Cys) variant DOID:0050454 periventricular nodular heterotopia IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Periventricular nodular heterotopia 1 PMID:28492532 10052030 CV194223 NM_001110556.2(FLNA):c.6412G>T (p.Gly2138Cys) variant DOID:0111784 otopalatodigital syndrome type 2 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II PMID:28492532 10052030 CV194223 NM_001110556.2(FLNA):c.6412G>T (p.Gly2138Cys) variant DOID:0111785 frontometaphyseal dysplasia IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Frontometaphyseal dysplasia PMID:28492532 10052030 CV194223 NM_001110556.2(FLNA):c.6412G>T (p.Gly2138Cys) variant DOID:0111788 Melnick-Needles syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles PMID:28492532 10052030 CV194223 NM_001110556.2(FLNA):c.6412G>T (p.Gly2138Cys) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:28492532 10052030 CV194223 NM_001110556.2(FLNA):c.6412G>T (p.Gly2138Cys) variant DOID:9005082 Periventricular Nodular Heterotopia 4 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant PMID:28492532 10052031 CV194224 NM_001458.5(FLNC):c.6441C>T (p.Ile2147=) variant DOID:0080096 myofibrillar myopathy 5 IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy, filamin C-related PMID:28492532 10052031 CV194224 NM_001458.5(FLNC):c.6441C>T (p.Ile2147=) variant DOID:0110327 hypertrophic cardiomyopathy 26 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 26 PMID:28492532 10052031 CV194224 NM_001458.5(FLNC):c.6441C>T (p.Ile2147=) variant DOID:0111190 distal myopathy 4 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Distal myopathy with posterior leg and anterior hand involvement PMID:28492532 10052031 CV194224 NM_001458.5(FLNC):c.6441C>T (p.Ile2147=) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant PMID:28492532 10052032 CV194227 NM_001854.4(COL11A1):c.2921C>A (p.Pro974Gln) variant DOID:65 connective tissue disease IAGP D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:15922184|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30753492 10052033 CV194228 NM_001378452.1(ITPR1):c.5265C>T (p.Asn1755=) variant DOID:1441 autosomal dominant cerebellar ataxia IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia PMID:20437544|PMID:26467025|PMID:28492532|PMID:29232918 10052034 CV194229 NM_002474.3(MYH11):c.5529G>A (p.Ser1843=) variant DOID:0050453 lissencephaly IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Lissencephaly, Recessive PMID:25741868|PMID:28492532 10052034 CV194229 NM_002474.3(MYH11):c.5529G>A (p.Ser1843=) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection PMID:25741868|PMID:28492532 10052034 CV194229 NM_002474.3(MYH11):c.5529G>A (p.Ser1843=) variant DOID:9000664 Familial Thoracic Aortic Aneurysm 4 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus PMID:25741868|PMID:28492532 10052035 CV194230 NM_002474.3(MYH11):c.5516C>T (p.Ala1839Val) variant DOID:0050453 lissencephaly IAGP D RGD:8554872 20180807 ClinVar ClinVar Annotator: match by term: Lissencephaly, Recessive PMID:25741868|PMID:28492532 10052035 CV194230 NM_002474.3(MYH11):c.5516C>T (p.Ala1839Val) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20180807 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection PMID:25741868|PMID:28492532 10052035 CV194230 NM_002474.3(MYH11):c.5516C>T (p.Ala1839Val) variant DOID:65 connective tissue disease IAGP D RGD:8554872 20180807 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 10052035 CV194230 NM_002474.3(MYH11):c.5516C>T (p.Ala1839Val) variant DOID:9000664 Familial Thoracic Aortic Aneurysm 4 IAGP D RGD:8554872 20180807 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 PMID:25741868|PMID:28492532 10052038 CV194238 NM_004006.3(DMD):c.5548A>G (p.Lys1850Glu) variant DOID:11723 Duchenne muscular dystrophy IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:25741868|PMID:28492532 10052039 CV194239 NM_004006.3(DMD):c.5481G>A (p.Leu1827=) variant DOID:11723 Duchenne muscular dystrophy IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:28492532 10052040 CV194241 NM_005529.7(HSPG2):c.4916C>T (p.Thr1639Met) variant DOID:0090005 Schwartz-Jampel syndrome 1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Schwartz-Jampel syndrome PMID:24088041|PMID:25504735|PMID:26467025|PMID:26633545|PMID:28492532 10052040 CV194241 NM_005529.7(HSPG2):c.4916C>T (p.Thr1639Met) variant DOID:9005084 Kniest Like Dysplasia Lethal IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Lethal Kniest-like syndrome PMID:24088041|PMID:25504735|PMID:26467025|PMID:26633545|PMID:28492532 10052041 CV194242 NM_005529.7(HSPG2):c.4928C>A (p.Pro1643His) variant DOID:0090005 Schwartz-Jampel syndrome 1 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: HSPG2-related condition PMID:25741868|PMID:28492532 10052041 CV194242 NM_005529.7(HSPG2):c.4928C>A (p.Pro1643His) variant DOID:9005084 Kniest Like Dysplasia Lethal IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Lethal Kniest-like syndrome PMID:25741868|PMID:28492532 10052042 CV194243 NM_006031.6(PCNT):c.8947C>T (p.Leu2983Phe) variant DOID:0060609 microcephalic osteodysplastic primordial dwarfism type II IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: PCNT-related condition PMID:25741868|PMID:28492532 10052043 CV194245 NM_025114.4(CEP290):c.5284C>T (p.Arg1762Cys) variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:25741868|PMID:28492532 10052043 CV194245 NM_025114.4(CEP290):c.5284C>T (p.Arg1762Cys) variant DOID:0070118 Meckel syndrome 4 IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 4 PMID:25741868|PMID:28492532 10052043 CV194245 NM_025114.4(CEP290):c.5284C>T (p.Arg1762Cys) variant DOID:0110136 Bardet-Biedl syndrome 14 IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 14 PMID:25741868|PMID:28492532 10052043 CV194245 NM_025114.4(CEP290):c.5284C>T (p.Arg1762Cys) variant DOID:0110291 Leber congenital amaurosis 10 IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 10 PMID:25741868|PMID:28492532 10052043 CV194245 NM_025114.4(CEP290):c.5284C>T (p.Arg1762Cys) variant DOID:0111000 Joubert syndrome 5 IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Joubert syndrome 5 PMID:25741868|PMID:28492532 10052043 CV194245 NM_025114.4(CEP290):c.5284C>T (p.Arg1762Cys) variant DOID:14791 Leber congenital amaurosis IAGP D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:25741868|PMID:28492532 10052043 CV194245 NM_025114.4(CEP290):c.5284C>T (p.Arg1762Cys) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10052043 CV194245 NM_025114.4(CEP290):c.5284C>T (p.Arg1762Cys) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532 10052043 CV194245 NM_025114.4(CEP290):c.5284C>T (p.Arg1762Cys) variant DOID:9008709 Senior-Loken Syndrome 6 IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 6 PMID:25741868|PMID:28492532 10052044 CV194247 NM_182961.4(SYNE1):c.5129C>A (p.Ala1710Asp) variant DOID:0070249 autosomal dominant Emery-Dreifuss muscular dystrophy 4 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant PMID:25741868|PMID:28492532 10052044 CV194247 NM_182961.4(SYNE1):c.5129C>A (p.Ala1710Asp) variant DOID:0111618 autosomal recessive spinocerebellar ataxia 8 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type PMID:25741868|PMID:28492532 10052044 CV194247 NM_182961.4(SYNE1):c.5129C>A (p.Ala1710Asp) variant DOID:630 genetic disease IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10052045 CV194248 NM_182961.4(SYNE1):c.5101G>T (p.Ala1701Ser) variant DOID:0070249 autosomal dominant Emery-Dreifuss muscular dystrophy 4 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant PMID:25214167|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30564623 10052045 CV194248 NM_182961.4(SYNE1):c.5101G>T (p.Ala1701Ser) variant DOID:0111618 autosomal recessive spinocerebellar ataxia 8 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 PMID:25214167|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30564623 10052050 CV194254 NM_000020.3(ACVRL1):c.484C>T (p.Leu162Phe) variant DOID:9005819 Hereditary Hemorrhagic Telangiectasia, Type 2 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 2 PMID:28492532 10052051 CV194255 NM_000023.4(SGCA):c.320C>T (p.Ala107Val) variant DOID:0110274 autosomal recessive limb-girdle muscular dystrophy IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy PMID:25741868|PMID:28492532 10052051 CV194255 NM_000023.4(SGCA):c.320C>T (p.Ala107Val) variant DOID:0110278 autosomal recessive limb-girdle muscular dystrophy type 2D IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2D PMID:25741868|PMID:28492532 10052052 CV194256 NM_000023.4(SGCA):c.313-10C>T variant DOID:0110278 autosomal recessive limb-girdle muscular dystrophy type 2D IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2D PMID:28492532 10052053 CV194258 NM_000036.3(AMPD1):c.334G>A (p.Val112Met) variant DOID:9008558 MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Muscle AMP deaminase deficiency PMID:25741868|PMID:28492532 10052055 CV194262 NM_000070.3(CAPN3):c.584A>G (p.Asn195Ser) variant DOID:0110275 autosomal recessive limb-girdle muscular dystrophy type 2A IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2A PMID:25741868|PMID:28492532 10052057 CV194264 NM_000070.3(CAPN3):c.525C>T (p.Asp175=) variant DOID:0110274 autosomal recessive limb-girdle muscular dystrophy IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive PMID:26467025|PMID:28492532 10052057 CV194264 NM_000070.3(CAPN3):c.525C>T (p.Asp175=) variant DOID:0110275 autosomal recessive limb-girdle muscular dystrophy type 2A IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2A PMID:26467025|PMID:28492532 10052057 CV194264 NM_000070.3(CAPN3):c.525C>T (p.Asp175=) variant DOID:9006843 Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 4 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: CAPN3-related disorder PMID:26467025|PMID:28492532 10052058 CV194266 NM_000098.3(CPT2):c.587C>T (p.Pro196Leu) variant DOID:0060235 carnitine palmitoyltransferase II deficiency IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency PMID:25741868|PMID:28492532 10052058 CV194266 NM_000098.3(CPT2):c.587C>T (p.Pro196Leu) variant DOID:9001501 Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, lethal neonatal PMID:25741868|PMID:28492532 10052058 CV194266 NM_000098.3(CPT2):c.587C>T (p.Pro196Leu) variant DOID:9007623 Late-Onset Carnitine Palmitoyltransferase II Deficiency IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced PMID:25741868|PMID:28492532 10052058 CV194266 NM_000098.3(CPT2):c.587C>T (p.Pro196Leu) variant DOID:9007668 Carnitine Palmitoyltransferase II Deficiency, Infantile IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, infantile PMID:25741868|PMID:28492532 10052058 CV194266 NM_000098.3(CPT2):c.587C>T (p.Pro196Leu) variant DOID:936 brain disease IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced, susceptibility to, 4 PMID:25741868|PMID:28492532 10052060 CV23999 NM_000098.3(CPT2):c.1342T>C (p.Phe448Leu) variant DOID:0060235 carnitine palmitoyltransferase II deficiency IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency PMID:10090476|PMID:12673791|PMID:12707442|PMID:15642848|PMID:20301431|PMID:21913903|PMID:28492532 10052060 CV23999 NM_000098.3(CPT2):c.1342T>C (p.Phe448Leu) variant DOID:9001501 Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: CPT2 DEFICIENCY, LETHAL NEONATAL PMID:10090476|PMID:12673791|PMID:12707442|PMID:15642848|PMID:20301431|PMID:21913903|PMID:28492532 10052060 CV23999 NM_000098.3(CPT2):c.1342T>C (p.Phe448Leu) variant DOID:9007623 Late-Onset Carnitine Palmitoyltransferase II Deficiency IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, late-onset PMID:10090476|PMID:12673791|PMID:12707442|PMID:15642848|PMID:20301431|PMID:21913903|PMID:28492532 10052060 CV23999 NM_000098.3(CPT2):c.1342T>C (p.Phe448Leu) variant DOID:9007668 Carnitine Palmitoyltransferase II Deficiency, Infantile IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, infantile PMID:10090476|PMID:12673791|PMID:12707442|PMID:15642848|PMID:20301431|PMID:21913903|PMID:28492532 10052061 CV194268 NM_000098.3(CPT2):c.674G>A (p.Arg225His) variant DOID:0060235 carnitine palmitoyltransferase II deficiency IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, lethal neonatal PMID:25741868|PMID:28492532 10052061 CV194268 NM_000098.3(CPT2):c.674G>A (p.Arg225His) variant DOID:9001501 Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, lethal neonatal PMID:25741868|PMID:28492532 10052061 CV194268 NM_000098.3(CPT2):c.674G>A (p.Arg225His) variant DOID:9007623 Late-Onset Carnitine Palmitoyltransferase II Deficiency IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced PMID:25741868|PMID:28492532 10052061 CV194268 NM_000098.3(CPT2):c.674G>A (p.Arg225His) variant DOID:9007668 Carnitine Palmitoyltransferase II Deficiency, Infantile IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, infantile PMID:25741868|PMID:28492532 10052061 CV194268 NM_000098.3(CPT2):c.674G>A (p.Arg225His) variant DOID:936 brain disease IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced, susceptibility to, 4 PMID:25741868|PMID:28492532 10052062 CV194269 NM_000098.3(CPT2):c.1460A>C (p.Glu487Ala) variant DOID:0060235 carnitine palmitoyltransferase II deficiency IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency PMID:10868782|PMID:12200419|PMID:28492532 10052066 CV194275 NM_000179.3(MSH6):c.742C>G (p.Arg248Gly) variant DOID:0070272 hereditary nonpolyposis colorectal cancer type 5 IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 5 PMID:25741868|PMID:27363726|PMID:28492532 10052066 CV194275 NM_000179.3(MSH6):c.742C>G (p.Arg248Gly) variant DOID:2871 endometrial carcinoma IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:25741868|PMID:27363726|PMID:28492532 10052066 CV194275 NM_000179.3(MSH6):c.742C>G (p.Arg248Gly) variant DOID:3883 Lynch syndrome IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Lynch syndrome PMID:25741868|PMID:27363726|PMID:28492532 10052066 CV194275 NM_000179.3(MSH6):c.742C>G (p.Arg248Gly) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:27363726|PMID:28492532 10052067 CV194276 NM_000179.3(MSH6):c.1223C>G (p.Pro408Arg) variant DOID:2871 endometrial carcinoma IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:25741868|PMID:28492532|PMID:34326862 10052067 CV194276 NM_000179.3(MSH6):c.1223C>G (p.Pro408Arg) variant DOID:3883 Lynch syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:25741868|PMID:28492532|PMID:34326862 10052067 CV194276 NM_000179.3(MSH6):c.1223C>G (p.Pro408Arg) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532|PMID:34326862 10052068 CV194278 NM_000180.4(GUCY2D):c.1290C>T (p.Ala430=) variant DOID:0111011 cone-rod dystrophy 6 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 6 PMID:28492532 10052069 CV194279 NM_000180.4(GUCY2D):c.1093C>T (p.Arg365Trp) variant DOID:0110078 Leber congenital amaurosis 1 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: AMAUROSIS CONGENITA OF LEBER I PMID:17964524|PMID:25097241|PMID:25741868|PMID:26626312|PMID:28492532|PMID:32483926|PMID:34426522 10052069 CV194279 NM_000180.4(GUCY2D):c.1093C>T (p.Arg365Trp) variant DOID:0111011 cone-rod dystrophy 6 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal cone dystrophy 2 PMID:17964524|PMID:25097241|PMID:25741868|PMID:26626312|PMID:28492532|PMID:32483926|PMID:34426522 10052069 CV194279 NM_000180.4(GUCY2D):c.1093C>T (p.Arg365Trp) variant DOID:14791 Leber congenital amaurosis IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal blindness, congenital PMID:17964524|PMID:25097241|PMID:25741868|PMID:26626312|PMID:28492532|PMID:32483926|PMID:34426522 10052069 CV194279 NM_000180.4(GUCY2D):c.1093C>T (p.Arg365Trp) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:17964524|PMID:25097241|PMID:25741868|PMID:26626312|PMID:28492532|PMID:32483926|PMID:34426522 10052069 CV194279 NM_000180.4(GUCY2D):c.1093C>T (p.Arg365Trp) variant DOID:9004519 Congenital Stationary Night Blindness 1I IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1I PMID:17964524|PMID:25097241|PMID:25741868|PMID:26626312|PMID:28492532|PMID:32483926|PMID:34426522 10052069 CV194279 NM_000180.4(GUCY2D):c.1093C>T (p.Arg365Trp) variant DOID:980 choroidal sclerosis IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Choroidal dystrophy, central areolar, 1 PMID:17964524|PMID:25097241|PMID:25741868|PMID:26626312|PMID:28492532|PMID:32483926|PMID:34426522 10052070 CV194281 NM_000181.4(GUSB):c.678C>T (p.Thr226=) variant DOID:12803 mucopolysaccharidosis type VII IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Sly syndrome PMID:25741868|PMID:28492532 10052071 CV194283 NM_000202.8(IDS):c.419-16dup variant DOID:0111395 mucopolysaccharidosis type IIIA IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-A PMID:28492532 10052071 CV194283 NM_000202.8(IDS):c.419-16dup variant DOID:12799 mucopolysaccharidosis II IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-II PMID:28492532 10052072 CV194284 NM_000214.3(JAG1):c.601C>T (p.Arg201Cys) variant DOID:9003698 ALAGILLE SYNDROME 1 IAGP D RGD:8554872 20240213 ClinVar ClinVar Annotator: match by term: Alagille syndrome 1 PMID:18660822|PMID:25741868|PMID:28492532|PMID:29187043 10052072 CV194284 NM_000214.3(JAG1):c.601C>T (p.Arg201Cys) variant DOID:9245 Alagille syndrome IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC PMID:18660822|PMID:25741868|PMID:28492532|PMID:29187043 10052073 CV194288 NM_000283.4(PDE6B):c.794G>A (p.Arg265Gln) variant DOID:0110863 congenital stationary night blindness autosomal dominant 2 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness, autosomal dominant 2 PMID:28492532 10052073 CV194288 NM_000283.4(PDE6B):c.794G>A (p.Arg265Gln) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive PMID:28492532 10052075 CV194290 NM_000295.5(SERPINA1):c.1061C>T (p.Ser354Phe) variant DOID:13372 alpha 1-antitrypsin deficiency IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Alpha-1-antitrypsin deficiency PMID:22215832|PMID:25741868|PMID:28492532|PMID:7977369 10052077 CV194292 NM_000310.4(PPT1):c.433G>C (p.Gly145Arg) variant DOID:0110721 neuronal ceroid lipofuscinosis 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 1 PMID:17576681|PMID:28492532|PMID:30378543|PMID:9536098 10052077 CV194292 NM_000310.4(PPT1):c.433G>C (p.Gly145Arg) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:28492532|PMID:30378543|PMID:9536098 10052079 CV194295 NM_000334.4(SCN4A):c.553G>A (p.Asp185Asn) variant DOID:0110682 congenital myasthenic syndrome 16 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 16 PMID:25741868|PMID:26467025|PMID:28492532 10052079 CV194295 NM_000334.4(SCN4A):c.553G>A (p.Asp185Asn) variant DOID:0111538 paramyotonia congenita of Von Eulenburg IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Paramyotonia congenita of Von Eulenburg PMID:25741868|PMID:26467025|PMID:28492532 10052079 CV194295 NM_000334.4(SCN4A):c.553G>A (p.Asp185Asn) variant DOID:14451 hyperkalemic periodic paralysis IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hyperkalemic periodic paralysis PMID:25741868|PMID:26467025|PMID:28492532 10052079 CV194295 NM_000334.4(SCN4A):c.553G>A (p.Asp185Asn) variant DOID:9001333 Hypokalemic Periodic Paralysis, Type 2 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 2 PMID:25741868|PMID:26467025|PMID:28492532 10052079 CV194295 NM_000334.4(SCN4A):c.553G>A (p.Asp185Asn) variant DOID:9005884 Potassium Aggravated Myotonia IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Potassium-aggravated myotonia PMID:25741868|PMID:26467025|PMID:28492532 10052080 CV194296 NM_000334.4(SCN4A):c.483-5C>G variant DOID:14451 hyperkalemic periodic paralysis IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Familial hyperkalemic periodic paralysis PMID:25741868|PMID:28492532 10052081 CV194297 NM_000371.4(TTR):c.384C>T (p.Ala128=) variant DOID:0050638 hereditary systemic amyloidosis 1 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Amyloidogenic transthyretin amyloidosis PMID:14640030|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10052081 CV194297 NM_000371.4(TTR):c.384C>T (p.Ala128=) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:14640030|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10052081 CV194297 NM_000371.4(TTR):c.384C>T (p.Ala128=) variant DOID:10595 Charcot-Marie-Tooth disease IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:14640030|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10052081 CV194297 NM_000371.4(TTR):c.384C>T (p.Ala128=) variant DOID:9000299 cardiac amyloidosis IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: AMYLOID CARDIOMYOPATHY PMID:14640030|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10052081 CV194297 NM_000371.4(TTR):c.384C>T (p.Ala128=) variant DOID:9001512 Familial Amyloid Polyneuropathies IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial amyloid polyneuropathy PMID:14640030|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10052083 CV194299 NM_001008216.2(GALE):c.237+20G>A variant DOID:0111458 galactose epimerase deficiency IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: UDPglucose-4-epimerase deficiency PMID:28492532 10052084 CV194300 NM_001278116.2(L1CAM):c.396C>T (p.Ala132=) variant DOID:607 paraplegia IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:26467025|PMID:28492532 10052084 CV194300 NM_001278116.2(L1CAM):c.396C>T (p.Ala132=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532 10052085 CV194301 NM_001278116.2(L1CAM):c.256G>A (p.Val86Met) variant DOID:607 paraplegia IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 10052085 CV194301 NM_001278116.2(L1CAM):c.256G>A (p.Val86Met) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10052086 CV194302 NM_001278116.2(L1CAM):c.386G>A (p.Arg129Gln) variant DOID:607 paraplegia IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 10052087 CV194303 NM_000426.4(LAMA2):c.479A>T (p.Asp160Val) variant DOID:0110636 congenital merosin-deficient muscular dystrophy 1A IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Laminin alpha 2-related dystrophy PMID:26467025|PMID:28492532|PMID:31983221 10052088 CV194305 NM_000443.4(ABCB4):c.140G>A (p.Arg47Gln) variant DOID:0070221 progressive familial intrahepatic cholestasis IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis PMID:20537830|PMID:22331132|PMID:23533021|PMID:25741868|PMID:26256905|PMID:28492532|PMID:28924228|PMID:29761167|PMID:30449124|PMID:31181191|PMID:31538484|PMID:35626323 10052088 CV194305 NM_000443.4(ABCB4):c.140G>A (p.Arg47Gln) variant DOID:0070223 progressive familial intrahepatic cholestasis 3 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Low Gamma-GT Familial Intrahepatic Cholestasis PMID:20537830|PMID:22331132|PMID:23533021|PMID:25741868|PMID:26256905|PMID:28492532|PMID:28924228|PMID:29761167|PMID:30449124|PMID:31181191|PMID:31538484|PMID:35626323 10052088 CV194305 NM_000443.4(ABCB4):c.140G>A (p.Arg47Gln) variant DOID:0070229 intrahepatic cholestasis of pregnancy 3 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Cholestasis, intrahepatic, of pregnancy, 3 PMID:20537830|PMID:22331132|PMID:23533021|PMID:25741868|PMID:26256905|PMID:28492532|PMID:28924228|PMID:29761167|PMID:30449124|PMID:31181191|PMID:31538484|PMID:35626323 10052088 CV194305 NM_000443.4(ABCB4):c.140G>A (p.Arg47Gln) variant DOID:1852 intrahepatic cholestasis IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Progressive intrahepatic cholestasis PMID:20537830|PMID:22331132|PMID:23533021|PMID:25741868|PMID:26256905|PMID:28492532|PMID:28924228|PMID:29761167|PMID:30449124|PMID:31181191|PMID:31538484|PMID:35626323 10052088 CV194305 NM_000443.4(ABCB4):c.140G>A (p.Arg47Gln) variant DOID:630 genetic disease IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20537830|PMID:22331132|PMID:23533021|PMID:25741868|PMID:26256905|PMID:28492532|PMID:28924228|PMID:29761167|PMID:30449124|PMID:31181191|PMID:31538484|PMID:35626323 10052088 CV194305 NM_000443.4(ABCB4):c.140G>A (p.Arg47Gln) variant DOID:9004618 Gallbladder Disease 1 IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Low phospholipid associated cholelithiasis PMID:20537830|PMID:22331132|PMID:23533021|PMID:25741868|PMID:26256905|PMID:28492532|PMID:28924228|PMID:29761167|PMID:30449124|PMID:31181191|PMID:31538484|PMID:35626323 10052089 CV194307 NM_000458.4(HNF1B):c.974G>A (p.Ser325Asn) variant DOID:0050524 maturity-onset diabetes of the young IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:19639018|PMID:24897035|PMID:25536396|PMID:25741167|PMID:26340261|PMID:27615128|PMID:28215227|PMID:33434175 10052090 CV194308 NM_000463.3(UGT1A1):c.1122T>C (p.Gly374=) variant DOID:2739 Gilbert syndrome IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Gilbert's syndrome PMID:28492532 10052090 CV194308 NM_000463.3(UGT1A1):c.1122T>C (p.Gly374=) variant DOID:3803 Crigler-Najjar syndrome IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Crigler-Najjar syndrome PMID:28492532 10052090 CV194308 NM_000463.3(UGT1A1):c.1122T>C (p.Gly374=) variant DOID:9000599 Hyperbilirubinemia, Transient Familial Neonatal IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Transient familial neonatal hyperbilirubinemia PMID:28492532 10052091 CV194309 NM_000466.3(PEX1):c.363G>A (p.Leu121=) variant DOID:905 Zellweger syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Zellweger Spectrum PMID:28492532 10052092 CV194311 NM_000515.5(GH1):c.387C>T (p.Tyr129=) variant DOID:0060870 isolated growth hormone deficiency IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Growth hormone deficiency PMID:28492532 10052096 CV194319 NM_000540.3(RYR1):c.271-7C>G variant DOID:0080991 congenital myopathy 1B IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Multiminicore myopathy PMID:25741868|PMID:28492532 10052096 CV194319 NM_000540.3(RYR1):c.271-7C>G variant DOID:3529 congenital myopathy 1A IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Myopathy, Central Core PMID:25741868|PMID:28492532 10052096 CV194319 NM_000540.3(RYR1):c.271-7C>G variant DOID:8545 malignant hyperthermia IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Malignant hyperthermia susceptibility PMID:25741868|PMID:28492532 10052096 CV194319 NM_000540.3(RYR1):c.271-7C>G variant DOID:9005001 Congenital Neuromuscular Disease, with Uniform Type 1 Fiber IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Neuromuscular disease, congenital, with uniform type 1 fiber PMID:25741868|PMID:28492532 10052096 CV194319 NM_000540.3(RYR1):c.271-7C>G variant DOID:9005320 Malignant Fever IAGP D RGD:8554872 20201015 ClinVar ClinVar Annotator: match by term: Pharmacogenic myopathy PMID:25741868|PMID:28492532 10052097 CV194320 NM_000543.5(SMPD1):c.1340+7C>T variant DOID:0070111 Niemann-Pick disease type A IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type A PMID:28492532 10052097 CV194320 NM_000543.5(SMPD1):c.1340+7C>T variant DOID:0070112 Niemann-Pick disease type B IAGP D RGD:8554872 20201015 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type B PMID:28492532 10052098 CV194321 NM_000543.5(SMPD1):c.1280A>T (p.His427Leu) variant DOID:0070112 Niemann-Pick disease type B IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type B PMID:20386867|PMID:25144372|PMID:28492532 10052099 CV194322 NM_000550.3(TYRP1):c.785C>T (p.Thr262Met) variant DOID:0070097 oculocutaneous albinism type III IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: TYRP1-related condition PMID:25741868|PMID:28492532 10052100 CV194323 NM_000702.4(ATP1A2):c.194G>T (p.Arg65Leu) variant DOID:0060178 familial hemiplegic migraine IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial hemiplegic migraine PMID:17877748|PMID:25741868|PMID:28492532 10052100 CV194323 NM_000702.4(ATP1A2):c.194G>T (p.Arg65Leu) variant DOID:0070384 developmental and epileptic encephalopathy 98 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 98 PMID:17877748|PMID:25741868|PMID:28492532 10052100 CV194323 NM_000702.4(ATP1A2):c.194G>T (p.Arg65Leu) variant DOID:0111182 familial hemiplegic migraine 2 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Migraine, familial hemiplegic, 2 PMID:17877748|PMID:25741868|PMID:28492532 10052100 CV194323 NM_000702.4(ATP1A2):c.194G>T (p.Arg65Leu) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17877748|PMID:25741868|PMID:28492532 10052100 CV194323 NM_000702.4(ATP1A2):c.194G>T (p.Arg65Leu) variant DOID:9009197 Alternating Hemiplegia of Childhood 1 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Alternating hemiplegia of childhood 1 PMID:17877748|PMID:25741868|PMID:28492532 10052101 CV194325 NM_000747.3(CHRNB1):c.342G>A (p.Val114=) variant DOID:0110679 congenital myasthenic syndrome 4C IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 4C PMID:28492532 10052101 CV194325 NM_000747.3(CHRNB1):c.342G>A (p.Val114=) variant DOID:0110681 congenital myasthenic syndrome 2A IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 2a, slow-channel PMID:28492532 10052102 CV194326 NM_000751.3(CHRND):c.244G>A (p.Gly82Ser) variant DOID:9005962 Multiple Pterygium Syndrome, Lethal Type IAGP D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lethal multiple pterygium syndrome PMID:28492532 10052103 CV194327 NM_001082971.2(DDC):c.435+6G>T variant DOID:0090123 aromatic L-amino acid decarboxylase deficiency IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Deficiency of aromatic-L-amino-acid decarboxylase PMID:17576681|PMID:28492532|PMID:9536098 10052103 CV194327 NM_001082971.2(DDC):c.435+6G>T variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:28492532|PMID:9536098 10052104 CV194328 NM_001127644.2(GABRA1):c.85C>T (p.Pro29Ser) variant DOID:0080431 developmental and epileptic encephalopathy 19 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 19 PMID:25741868|PMID:28492532 10052104 CV194328 NM_001127644.2(GABRA1):c.85C>T (p.Pro29Ser) variant DOID:9009315 Idiopathic Generalized Epilepsy IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:25741868|PMID:28492532 10052105 CV194330 NM_000883.4(IMPDH1):c.336C>T (p.Ala112=) variant DOID:0110216 Leber congenital amaurosis 11 IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 11 PMID:28492532 10052105 CV194330 NM_000883.4(IMPDH1):c.336C>T (p.Ala112=) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532 10052106 CV194331 NM_001004334.4(GPR179):c.1220G>A (p.Arg407Gln) variant DOID:0110869 congenital stationary night blindness 1E IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness, type 1E PMID:28492532 10052106 CV194331 NM_001004334.4(GPR179):c.1220G>A (p.Arg407Gln) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10052107 CV194333 NM_001010892.3(RSPH4A):c.1708G>C (p.Glu570Gln) variant DOID:0110602 primary ciliary dyskinesia 11 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 11 PMID:25741868|PMID:28492532 10052107 CV194333 NM_001010892.3(RSPH4A):c.1708G>C (p.Glu570Gln) variant DOID:9562 primary ciliary dyskinesia IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:25741868|PMID:28492532 10052108 CV194334 NM_001012720.2(RGR):c.385G>A (p.Val129Ile) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532 10052109 CV194336 NM_001018113.3(FANCB):c.989T>C (p.Ile330Thr) variant DOID:13636 Fanconi anemia IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:25741868|PMID:28492532 10052111 CV194340 NM_001082538.3(TCTN1):c.488C>A (p.Ser163Tyr) variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:25741868|PMID:28492532 10052111 CV194340 NM_001082538.3(TCTN1):c.488C>A (p.Ser163Tyr) variant DOID:0110982 Joubert syndrome 13 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Joubert syndrome 13 PMID:25741868|PMID:28492532 10052113 CV194346 NM_001330078.2(NRXN1):c.782A>G (p.Asn261Ser) variant DOID:0111332 Pitt-Hopkins-like syndrome 2 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 PMID:25741868|PMID:28492532 10052115 CV194350 NM_001199107.2(TBC1D24):c.1125C>T (p.His375=) variant DOID:0080468 developmental and epileptic encephalopathy 1 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 PMID:24033266|PMID:28492532 10052115 CV194350 NM_001199107.2(TBC1D24):c.1125C>T (p.His375=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:28492532 10052115 CV194350 NM_001199107.2(TBC1D24):c.1125C>T (p.His375=) variant DOID:9007063 Myoclonic Epilepsy, Familial Infantile IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Myoclonic epilepsy, familial infantile PMID:24033266|PMID:28492532 10052116 CV194353 NM_001242957.3(MAK):c.174T>G (p.Asn58Lys) variant DOID:0110380 retinitis pigmentosa 62 IAGP D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: MAK-related condition PMID:28492532 10052116 CV194353 NM_001242957.3(MAK):c.174T>G (p.Asn58Lys) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive PMID:28492532 10052117 CV194354 NM_001360.3(DHCR7):c.223A>T (p.Ile75Phe) variant DOID:14692 Smith-Lemli-Opitz syndrome IAGP D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Smith-Lemli-Opitz syndrome PMID:25741868|PMID:28492532 10052117 CV194354 NM_001360.3(DHCR7):c.223A>T (p.Ile75Phe) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10052119 CV194356 NM_001376.5(DYNC1H1):c.752G>A (p.Arg251His) variant DOID:0070351 spinal muscular atrophy with lower extremity predominant 1 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant PMID:10862709|PMID:25741868|PMID:26392352|PMID:28492532|PMID:30122514|PMID:34374989|PMID:37273706|PMID:37470033|PMID:38374194 10052119 CV194356 NM_001376.5(DYNC1H1):c.752G>A (p.Arg251His) variant DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2O PMID:10862709|PMID:25741868|PMID:26392352|PMID:28492532|PMID:30122514|PMID:34374989|PMID:37273706|PMID:37470033|PMID:38374194 10052119 CV194356 NM_001376.5(DYNC1H1):c.752G>A (p.Arg251His) variant DOID:10595 Charcot-Marie-Tooth disease IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10862709|PMID:25741868|PMID:26392352|PMID:28492532|PMID:30122514|PMID:34374989|PMID:37273706|PMID:37470033|PMID:38374194 10052119 CV194356 NM_001376.5(DYNC1H1):c.752G>A (p.Arg251His) variant DOID:630 genetic disease IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:10862709|PMID:25741868|PMID:26392352|PMID:28492532|PMID:30122514|PMID:34374989|PMID:37273706|PMID:37470033|PMID:38374194 10052119 CV194356 NM_001376.5(DYNC1H1):c.752G>A (p.Arg251His) variant DOID:870 neuropathy IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Peripheral neuropathy PMID:10862709|PMID:25741868|PMID:26392352|PMID:28492532|PMID:30122514|PMID:34374989|PMID:37273706|PMID:37470033|PMID:38374194 10052120 CV194357 NM_001110556.2(FLNA):c.623-7G>A variant DOID:0050454 periventricular nodular heterotopia IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Periventricular nodular heterotopia 1 PMID:28492532 10052121 CV194358 NM_001558.4(IL10RA):c.475A>G (p.Ser159Gly) variant DOID:0110899 inflammatory bowel disease 28 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Inflammatory bowel disease 28 PMID:25741868|PMID:28492532 10052122 CV194359 NM_001614.5(ACTG1):c.542C>T (p.Ala181Val) variant DOID:0110550 autosomal dominant nonsyndromic deafness 20 IAGP D RGD:8554872 20250723 ClinVar ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 20 10052122 CV194359 NM_001614.5(ACTG1):c.542C>T (p.Ala181Val) variant DOID:630 genetic disease IAGP D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10052124 CV194363 NM_001849.4(COL6A2):c.730G>A (p.Gly244Arg) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:25741868|PMID:28492532 10052127 CV194368 NM_002397.5(MEF2C):c.363C>T (p.Asn121=) variant DOID:0070050 neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations PMID:25741868|PMID:28492532 10052128 CV194369 NM_002768.5(CHMP1A):c.198G>A (p.Ala66=) variant DOID:0060277 pontocerebellar hypoplasia type 8 IAGP D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: CHMP1A-related condition PMID:28492532 10052129 CV194372 NM_003238.6(TGFB2):c.644-4C>T variant DOID:0070233 Loeys-Dietz syndrome 4 IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 PMID:28492532 10052131 CV194374 NM_003384.3(VRK1):c.266G>A (p.Arg89Gln) variant DOID:0060265 pontocerebellar hypoplasia type 1A IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 1A PMID:24126608|PMID:25741868|PMID:28492532 10052131 CV194374 NM_003384.3(VRK1):c.266G>A (p.Arg89Gln) variant DOID:0081429 autosomal recessive distal hereditary motor neuronopathy 10 IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 10 PMID:24126608|PMID:25741868|PMID:28492532 10052131 CV194374 NM_003384.3(VRK1):c.266G>A (p.Arg89Gln) variant DOID:630 genetic disease IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24126608|PMID:25741868|PMID:28492532 10052132 CV194376 NM_001130987.2(DYSF):c.246G>A (p.Leu82=) variant DOID:0110276 autosomal recessive limb-girdle muscular dystrophy type 2B IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 3 PMID:28492532 10052132 CV194376 NM_001130987.2(DYSF):c.246G>A (p.Leu82=) variant DOID:9004518 Dysferlinopathy IAGP D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Dysferlinopathy PMID:28492532 10052135 CV194380 NM_003742.4(ABCB11):c.127G>A (p.Val43Ile) variant DOID:0070222 progressive familial intrahepatic cholestasis 2 IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis type 2 PMID:22795478|PMID:23684896|PMID:25741868|PMID:27153395|PMID:28492532|PMID:28733223 10052137 CV194383 NM_003865.3(HESX1):c.525G>A (p.Ala175=) variant DOID:0060857 septooptic dysplasia IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Septo-optic dysplasia sequence PMID:17148560|PMID:28492532 10052138 CV194387 NM_003995.4(NPR2):c.988-7C>A variant DOID:0080050 acromesomelic dysplasia, Maroteaux type IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type PMID:28492532 10052139 CV194388 NM_004086.3(COCH):c.239+5G>A variant DOID:0110593 autosomal dominant nonsyndromic deafness 9 IAGP D RGD:8554872 20250723 ClinVar ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 9 PMID:28492532 10052141 CV194391 NM_004239.4(TRIP11):c.382G>T (p.Ala128Ser) variant DOID:0080054 achondrogenesis type IA IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Achondrogenesis, type IA PMID:25741868|PMID:28492532 10052141 CV194391 NM_004239.4(TRIP11):c.382G>T (p.Ala128Ser) variant DOID:65 connective tissue disease IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 10052143 CV194393 NM_004369.4(COL6A3):c.1147G>A (p.Ala383Thr) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:28492532 10052144 CV194394 NM_004369.4(COL6A3):c.1150G>A (p.Ala384Thr) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:25741868|PMID:28492532 10052144 CV194394 NM_004369.4(COL6A3):c.1150G>A (p.Ala384Thr) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10052145 CV194395 NM_004369.4(COL6A3):c.1146G>A (p.Gln382=) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:28492532 10052150 CV194401 NM_133642.5(LARGE1):c.179G>A (p.Arg60Gln) variant DOID:0110637 muscular dystrophy-dystroglycanopathy type B6 IAGP D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 PMID:28492532 10052151 CV194402 NM_133642.5(LARGE1):c.408+8G>A variant DOID:0110637 muscular dystrophy-dystroglycanopathy type B6 IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 PMID:25741868|PMID:26467025|PMID:28492532 10052152 CV194403 NM_133642.5(LARGE1):c.391G>A (p.Val131Ile) variant DOID:0110637 muscular dystrophy-dystroglycanopathy type B6 IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B6 PMID:25741868|PMID:26467025|PMID:28454995|PMID:28492532|PMID:34426522 10052152 CV194403 NM_133642.5(LARGE1):c.391G>A (p.Val131Ile) variant DOID:630 genetic disease IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28454995|PMID:28492532|PMID:34426522 10052153 CV194404 NM_004985.5(KRAS):c.436G>A (p.Ala146Thr) variant DOID:0080690 RASopathy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: RASopathy PMID:20147967|PMID:20570890|PMID:25251940|PMID:25741868|PMID:26110767|PMID:26970110|PMID:28492532|PMID:30289595|PMID:30891959|PMID:32934698 10052153 CV194404 NM_004985.5(KRAS):c.436G>A (p.Ala146Thr) variant DOID:0111461 cardiofaciocutaneous syndrome 2 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 2 PMID:20147967|PMID:20570890|PMID:25251940|PMID:25741868|PMID:26110767|PMID:26970110|PMID:28492532|PMID:30289595|PMID:30891959|PMID:32934698 10052153 CV194404 NM_004985.5(KRAS):c.436G>A (p.Ala146Thr) variant DOID:0111705 oculoectodermal syndrome IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: OCULOECTODERMAL SYNDROME, SOMATIC PMID:20147967|PMID:20570890|PMID:25251940|PMID:25741868|PMID:26110767|PMID:26970110|PMID:28492532|PMID:30289595|PMID:30891959|PMID:32934698 10052153 CV194404 NM_004985.5(KRAS):c.436G>A (p.Ala146Thr) variant DOID:8567 Hodgkin's lymphoma IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Classic Hodgkin lymphoma PMID:20147967|PMID:20570890|PMID:25251940|PMID:25741868|PMID:26110767|PMID:26970110|PMID:28492532|PMID:30289595|PMID:30891959|PMID:32934698 10052153 CV194404 NM_004985.5(KRAS):c.436G>A (p.Ala146Thr) variant DOID:9007632 Encephalocraniocutaneous Lipomatosis IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Encephalocraniocutaneous lipomatosis PMID:20147967|PMID:20570890|PMID:25251940|PMID:25741868|PMID:26110767|PMID:26970110|PMID:28492532|PMID:30289595|PMID:30891959|PMID:32934698 10052154 CV194405 NM_001110792.2(MECP2):c.1200A>C (p.Pro400=) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Rett syndrome 10052155 CV194407 NM_001110792.2(MECP2):c.563C>A (p.Pro188His) variant DOID:0111932 severe congenital encephalopathy due to MECP2 mutation IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly PMID:28492532 10052155 CV194407 NM_001110792.2(MECP2):c.563C>A (p.Pro188His) variant DOID:1206 Rett syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Rett syndrome PMID:28492532 10052155 CV194407 NM_001110792.2(MECP2):c.563C>A (p.Pro188His) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10052158 CV194413 NM_005327.7(HADH):c.486A>G (p.Arg162=) variant DOID:13317 hyperinsulinemic hypoglycemia IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia PMID:28492532|PMID:29280746|PMID:34055426|PMID:34547194 10052158 CV194413 NM_005327.7(HADH):c.486A>G (p.Arg162=) variant DOID:9001715 3-Hydroxyacyl-CoA Dehydrogenase Deficiency IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Deficiency of 3-hydroxyacyl-CoA dehydrogenase PMID:28492532|PMID:29280746|PMID:34055426|PMID:34547194 10052160 CV194416 NM_170707.4(LMNA):c.643C>T (p.Leu215=) variant DOID:0050539 Charcot-Marie-Tooth disease type 2 IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 PMID:25741868|PMID:28492532 10052160 CV194416 NM_170707.4(LMNA):c.643C>T (p.Leu215=) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10052160 CV194416 NM_170707.4(LMNA):c.643C>T (p.Leu215=) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:28492532 10052161 CV194418 NM_005592.4(MUSK):c.486+7G>C variant DOID:0110670 congenital myasthenic syndrome 9 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency PMID:25741868|PMID:28492532 10052161 CV194418 NM_005592.4(MUSK):c.486+7G>C variant DOID:0111377 fetal akinesia deformation sequence syndrome 1 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Pena-Shokeir syndrome type I PMID:25741868|PMID:28492532 10052162 CV194419 NM_005592.4(MUSK):c.486G>C (p.Arg162Ser) variant DOID:0110670 congenital myasthenic syndrome 9 IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency PMID:25741868|PMID:28492532 10052162 CV194419 NM_005592.4(MUSK):c.486G>C (p.Arg162Ser) variant DOID:0111377 fetal akinesia deformation sequence syndrome 1 IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Pena-Shokeir syndrome type I PMID:25741868|PMID:28492532 10052166 CV194423 NM_005881.4(BCKDK):c.373G>A (p.Val125Met) variant DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency IAGP D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:28492532 10052167 CV194424 NM_006019.4(TCIRG1):c.197-5C>T variant DOID:0110942 autosomal recessive osteopetrosis 1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: TCIRG1-related condition PMID:28492532 10052168 CV194425 NM_006019.4(TCIRG1):c.417+11A>G variant DOID:0110942 autosomal recessive osteopetrosis 1 IAGP D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 1 PMID:24033266|PMID:25741868|PMID:28492532 10052169 CV194426 NM_006019.4(TCIRG1):c.384C>T (p.His128=) variant DOID:0110942 autosomal recessive osteopetrosis 1 IAGP D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 1 PMID:25741868|PMID:28492532 10052170 CV194427 NM_006019.4(TCIRG1):c.247A>G (p.Lys83Glu) variant DOID:0110942 autosomal recessive osteopetrosis 1 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 1 PMID:25741868|PMID:28492532 10052171 CV194428 NM_006086.4(TUBB3):c.921C>T (p.His307=) variant DOID:0081017 congenital fibrosis of the extraocular muscles 3A IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: TUBB3-related condition PMID:25741868|PMID:28492532 10052171 CV194428 NM_006086.4(TUBB3):c.921C>T (p.His307=) variant DOID:0090137 complex cortical dysplasia with other brain malformations 1 IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Cortical dysplasia, complex, with other brain malformations 1 PMID:25741868|PMID:28492532 10052172 CV194429 NM_006204.4(PDE6C):c.742A>G (p.Asn248Asp) variant DOID:13911 achromatopsia IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Achromatopsia PMID:28492532 10052172 CV194429 NM_006204.4(PDE6C):c.742A>G (p.Asn248Asp) variant DOID:9003656 Achromatopsia 1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Rod monochromatism PMID:28492532 10052172 CV194429 NM_006204.4(PDE6C):c.742A>G (p.Asn248Asp) variant DOID:9008571 Cone Dystrophy 4 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Cone dystrophy 4 PMID:28492532 10052174 CV194431 NM_006269.2(RP1):c.6196G>A (p.Asp2066Asn) variant DOID:0110390 retinitis pigmentosa 1 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 1 PMID:11527933|PMID:25741868|PMID:28492532 10052174 CV194431 NM_006269.2(RP1):c.6196G>A (p.Asp2066Asn) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:11527933|PMID:25741868|PMID:28492532 10052175 CV194434 NM_006269.2(RP1):c.4299A>G (p.Ala1433=) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532 10052176 CV194435 NM_006269.2(RP1):c.3532G>T (p.Asp1178Tyr) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant PMID:28492532 10052176 CV194435 NM_006269.2(RP1):c.3532G>T (p.Asp1178Tyr) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10052177 CV194436 NM_006269.2(RP1):c.3826C>T (p.Pro1276Ser) variant DOID:0110390 retinitis pigmentosa 1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 1 PMID:28492532 10052177 CV194436 NM_006269.2(RP1):c.3826C>T (p.Pro1276Ser) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532 10052178 CV194437 NM_006302.3(MOGS):c.2434C>T (p.Arg812Cys) variant DOID:0070254 congenital disorder of glycosylation type IIb IAGP D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B PMID:28492532 10052178 CV194437 NM_006302.3(MOGS):c.2434C>T (p.Arg812Cys) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10052182 CV194442 NM_006516.4(SLC2A1):c.458G>A (p.Arg153His) variant DOID:0070561 glucose transporter type 1 deficiency syndrome 1 IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: GLUT1 deficiency syndrome 1, autosomal recessive PMID:12325075|PMID:17718830|PMID:20129935|PMID:25741868|PMID:26193382|PMID:26267703|PMID:28492532|PMID:39825153 10052183 CV194443 NM_006516.4(SLC2A1):c.498C>T (p.Val166=) variant DOID:0070561 glucose transporter type 1 deficiency syndrome 1 IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: GLUT1 deficiency syndrome 1, autosomal recessive PMID:28492532 10052183 CV194443 NM_006516.4(SLC2A1):c.498C>T (p.Val166=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10052184 CV194444 NM_006662.3(SRCAP):c.62C>T (p.Ser21Leu) variant DOID:0111358 Floating-Harbor syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Floating-Harbor syndrome PMID:25741868|PMID:28492532 10052184 CV194444 NM_006662.3(SRCAP):c.62C>T (p.Ser21Leu) variant DOID:630 genetic disease IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10052185 CV194445 NM_001364905.1(LRBA):c.549+6A>C variant DOID:0081151 common variable immunodeficiency 8 IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency 8, with autoimmunity PMID:17576681|PMID:28492532|PMID:9536098 10052186 CV194446 NM_006922.4(SCN3A):c.295A>G (p.Ile99Val) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10052187 CV194448 NM_007254.4(PNKP):c.290A>G (p.Asn97Ser) variant DOID:0080457 microcephaly, seizures, and developmental delay IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Microcephaly, seizures, and developmental delay PMID:25741868|PMID:28492532 10052187 CV194448 NM_007254.4(PNKP):c.290A>G (p.Asn97Ser) variant DOID:0080459 developmental and epileptic encephalopathy 12 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:25741868|PMID:28492532 10052187 CV194448 NM_007254.4(PNKP):c.290A>G (p.Asn97Ser) variant DOID:0110179 Charcot-Marie-Tooth disease type 2B2 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B2 PMID:25741868|PMID:28492532 10052187 CV194448 NM_007254.4(PNKP):c.290A>G (p.Asn97Ser) variant DOID:630 genetic disease IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10052188 CV194449 NM_007255.3(B4GALT7):c.687C>T (p.Asp229=) variant DOID:0050802 Ehlers-Danlos syndrome spondylodysplastic type 2 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type PMID:25741868|PMID:28492532 10052188 CV194449 NM_007255.3(B4GALT7):c.687C>T (p.Asp229=) variant DOID:0080738 Ehlers-Danlos syndrome spondylodysplastic type 1 IAGP D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 1 PMID:25741868|PMID:28492532 10052190 CV194451 NM_012280.4(FTSJ1):c.270G>T (p.Gly90=) variant DOID:630 genetic disease IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10052191 CV194456 NM_014425.5(INVS):c.367C>T (p.Arg123Trp) variant DOID:0111112 nephronophthisis 1 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:25741868|PMID:28492532 10052191 CV194456 NM_014425.5(INVS):c.367C>T (p.Arg123Trp) variant DOID:0111113 nephronophthisis 2 IAGP D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: INVS-related condition PMID:25741868|PMID:28492532 10052191 CV194456 NM_014425.5(INVS):c.367C>T (p.Arg123Trp) variant DOID:12712 nephronophthisis IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:25741868|PMID:28492532 10052192 CV194459 NM_014780.5(CUL7):c.935G>A (p.Arg312His) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10052193 CV194461 NM_014780.5(CUL7):c.1005G>A (p.Leu335=) variant DOID:9005349 Three M Syndrome 1 IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: 3M syndrome 1 PMID:28492532 10052194 CV194464 NM_015272.5(RPGRIP1L):c.482G>A (p.Arg161His) variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 10052194 CV194464 NM_015272.5(RPGRIP1L):c.482G>A (p.Arg161His) variant DOID:0050778 Meckel syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:28492532 10052194 CV194464 NM_015272.5(RPGRIP1L):c.482G>A (p.Arg161His) variant DOID:0070115 Meckel syndrome 1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Dysencephalia splachnocystica PMID:28492532 10052194 CV194464 NM_015272.5(RPGRIP1L):c.482G>A (p.Arg161His) variant DOID:0110980 Joubert syndrome 1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Joubert-Boltshauser syndrome PMID:28492532 10052194 CV194464 NM_015272.5(RPGRIP1L):c.482G>A (p.Arg161His) variant DOID:630 genetic disease IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10052195 CV194466 NM_015311.3(OBSL1):c.1599G>A (p.Thr533=) variant DOID:9006598 Three M Syndrome 2 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Three M syndrome 2 PMID:28492532 10052196 CV194467 NM_015506.3(MMACHC):c.848G>T (p.Ter283Leu) variant DOID:0050715 methylmalonic aciduria and homocystinuria type cblC IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria with homocystinuria cblC type PMID:25741868|PMID:28492532 10052197 CV194468 NM_016156.6(MTMR2):c.356G>A (p.Arg119Gln) variant DOID:0050541 Charcot-Marie-Tooth disease type 4 IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:28492532 10052197 CV194468 NM_016156.6(MTMR2):c.356G>A (p.Arg119Gln) variant DOID:0110191 Charcot-Marie-Tooth disease type 4B1 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B1 PMID:28492532 10052198 CV194469 NM_016180.5(SLC45A2):c.1032G>T (p.Gln344His) variant DOID:9006017 Skin/Hair/Eye Pigmentation, Variation In, 5 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR PMID:17576681|PMID:24118800|PMID:25741868|PMID:28492532|PMID:29345414|PMID:9536098 10052200 CV194473 NM_001123385.2(BCOR):c.837C>T (p.Leu279=) variant DOID:0111809 syndromic microphthalmia 2 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Oculofaciocardiodental syndrome PMID:28492532 10052201 CV194474 NM_001123385.2(BCOR):c.2910G>A (p.Ala970=) variant DOID:0111809 syndromic microphthalmia 2 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Oculofaciocardiodental syndrome PMID:28492532 10052202 CV194475 NM_017837.4(PIGV):c.1277C>T (p.Pro426Leu) variant DOID:0070433 hyperphosphatasia with impaired intellectual development syndrome 1 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 1 PMID:28492532 10052203 CV194476 NM_017882.3(CLN6):c.316C>T (p.Arg106Cys) variant DOID:14503 neuronal ceroid lipofuscinosis IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 10052204 CV194477 NM_001127649.3(PEX26):c.643G>A (p.Glu215Lys) variant DOID:0080482 peroxisome biogenesis disorder 7A IAGP D RGD:8554872 20211109 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 7A PMID:25741868|PMID:28492532 10052204 CV194477 NM_001127649.3(PEX26):c.643G>A (p.Glu215Lys) variant DOID:0081436 Peroxisome biogenesis disorder 7B IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 7B PMID:25741868|PMID:28492532 10052205 CV194480 NM_018451.5(CPAP):c.646T>C (p.Cys216Arg) variant DOID:0070010 Seckel syndrome 4 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Seckel syndrome 4 PMID:25741868|PMID:28492532 10052205 CV194480 NM_018451.5(CPAP):c.646T>C (p.Cys216Arg) variant DOID:0070290 primary autosomal recessive microcephaly 6 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Primary autosomal recessive microcephaly 6 PMID:25741868|PMID:28492532 10052205 CV194480 NM_018451.5(CPAP):c.646T>C (p.Cys216Arg) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10052207 CV194482 NM_020361.5(CPA6):c.383G>A (p.Arg128Gln) variant DOID:0060752 familial temporal lobe epilepsy 5 IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 5 PMID:28492532 10052207 CV194482 NM_020361.5(CPA6):c.383G>A (p.Arg128Gln) variant DOID:0111308 familial febrile seizures 11 IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Febrile seizures, familial, 11 PMID:28492532 10052208 CV194483 NM_020433.5(JPH2):c.1380G>A (p.Ala460=) variant DOID:0110323 hypertrophic cardiomyopathy 17 IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 17 PMID:25741868|PMID:28492532 10052208 CV194483 NM_020433.5(JPH2):c.1380G>A (p.Ala460=) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 10052209 CV194484 NM_020436.5(SALL4):c.2977G>A (p.Gly993Arg) variant DOID:0060747 Duane-radial ray syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Duane-radial ray syndrome PMID:28492532 10052210 CV194486 NM_020717.5(SHROOM4):c.2192A>G (p.Glu731Gly) variant DOID:0112126 Stocco Dos Santos type X-linked intellectual disability IAGP D RGD:8554872 20180508 ClinVar ClinVar Annotator: match by term: Stocco dos Santos syndrome PMID:25741868 10052213 CV194489 NM_020822.3(KCNT1):c.408C>T (p.Leu136=) variant DOID:0080439 developmental and epileptic encephalopathy 14 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 PMID:28492532 10052213 CV194489 NM_020822.3(KCNT1):c.408C>T (p.Leu136=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10052215 CV194491 NM_001291415.2(KDM6A):c.384+10C>T variant DOID:9007875 Kabuki Syndrome 2 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kabuki syndrome 2 PMID:28492532 10052216 CV194492 NM_001126121.2(SLC25A19):c.135T>A (p.Leu45=) variant DOID:9006375 Amish Lethal Microcephaly IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Amish lethal microcephaly PMID:28492532 10052217 CV194495 NM_022356.4(P3H1):c.852G>A (p.Thr284=) variant DOID:0110336 osteogenesis imperfecta type 8 IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 8 PMID:28492532 10052219 CV194497 NM_022436.3(ABCG5):c.431T>C (p.Val144Ala) variant DOID:0060983 sitosterolemia 2 IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Sitosterolemia 2 PMID:25741868|PMID:28492532|PMID:32041611|PMID:34650182 10052219 CV194497 NM_022436.3(ABCG5):c.431T>C (p.Val144Ala) variant DOID:0090019 sitosterolemia IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Sitosterolemia PMID:25741868|PMID:28492532|PMID:32041611|PMID:34650182 10052220 CV194498 NM_001384732.1(CPLANE1):c.221C>T (p.Ala74Val) variant DOID:0060376 Joubert syndrome with orofaciodigital defect IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Oral-facial-digital syndrome type 6 PMID:25741868|PMID:28492532|PMID:36413997 10052220 CV194498 NM_001384732.1(CPLANE1):c.221C>T (p.Ala74Val) variant DOID:0110986 Joubert Syndrome 17 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Joubert syndrome 17 PMID:25741868|PMID:28492532|PMID:36413997 10052220 CV194498 NM_001384732.1(CPLANE1):c.221C>T (p.Ala74Val) variant DOID:630 genetic disease IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:36413997 10052222 CV194500 NM_024301.5(FKRP):c.613C>T (p.Arg205Cys) variant DOID:0050560 Walker-Warburg syndrome IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:28492532 10052223 CV194502 NM_024301.5(FKRP):c.1115T>G (p.Val372Gly) variant DOID:0050560 Walker-Warburg syndrome IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:28492532 10052224 CV194503 NM_024301.5(FKRP):c.586G>A (p.Gly196Arg) variant DOID:0050560 Walker-Warburg syndrome IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:18832576|PMID:24257234|PMID:25741868|PMID:28492532|PMID:32342672|PMID:32429923 10052224 CV194503 NM_024301.5(FKRP):c.586G>A (p.Gly196Arg) variant DOID:0110299 autosomal recessive limb-girdle muscular dystrophy type 2I IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2I PMID:18832576|PMID:24257234|PMID:25741868|PMID:28492532|PMID:32342672|PMID:32429923 10052224 CV194503 NM_024301.5(FKRP):c.586G>A (p.Gly196Arg) variant DOID:0110635 muscular dystrophy-dystroglycanopathy type B5 IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, FKRP-RELATED PMID:18832576|PMID:24257234|PMID:25741868|PMID:28492532|PMID:32342672|PMID:32429923 10052224 CV194503 NM_024301.5(FKRP):c.586G>A (p.Gly196Arg) variant DOID:0111237 congenital muscular dystrophy-dystroglycanopathy type A1 IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 PMID:18832576|PMID:24257234|PMID:25741868|PMID:28492532|PMID:32342672|PMID:32429923 10052224 CV194503 NM_024301.5(FKRP):c.586G>A (p.Gly196Arg) variant DOID:0111241 congenital muscular dystrophy-dystroglycanopathy type A5 IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 PMID:18832576|PMID:24257234|PMID:25741868|PMID:28492532|PMID:32342672|PMID:32429923 10052225 CV194504 NM_024301.5(FKRP):c.729G>A (p.Ala243=) variant DOID:0050560 Walker-Warburg syndrome IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:28492532 10052226 CV194505 NM_024301.5(FKRP):c.1376C>T (p.Ala459Val) variant DOID:0050560 Walker-Warburg syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:25741868|PMID:28492532|PMID:30564623 10052226 CV194505 NM_024301.5(FKRP):c.1376C>T (p.Ala459Val) variant DOID:0110299 autosomal recessive limb-girdle muscular dystrophy type 2I IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 PMID:25741868|PMID:28492532|PMID:30564623 10052226 CV194505 NM_024301.5(FKRP):c.1376C>T (p.Ala459Val) variant DOID:0110635 muscular dystrophy-dystroglycanopathy type B5 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, FKRP-RELATED PMID:25741868|PMID:28492532|PMID:30564623 10052226 CV194505 NM_024301.5(FKRP):c.1376C>T (p.Ala459Val) variant DOID:0111237 congenital muscular dystrophy-dystroglycanopathy type A1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 PMID:25741868|PMID:28492532|PMID:30564623 10052226 CV194505 NM_024301.5(FKRP):c.1376C>T (p.Ala459Val) variant DOID:0111241 congenital muscular dystrophy-dystroglycanopathy type A5 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 PMID:25741868|PMID:28492532|PMID:30564623 10052227 CV194506 NM_024301.5(FKRP):c.647G>A (p.Arg216Gln) variant DOID:0050560 Walker-Warburg syndrome IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:28492532 10052228 CV194507 NM_024301.5(FKRP):c.946C>T (p.Pro316Ser) variant DOID:0050560 Walker-Warburg syndrome IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:11592034|PMID:11741828|PMID:12666124|PMID:16368217|PMID:25135358|PMID:25741868|PMID:28492532|PMID:34509255 10052228 CV194507 NM_024301.5(FKRP):c.946C>T (p.Pro316Ser) variant DOID:0110299 autosomal recessive limb-girdle muscular dystrophy type 2I IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2I PMID:11592034|PMID:11741828|PMID:12666124|PMID:16368217|PMID:25135358|PMID:25741868|PMID:28492532|PMID:34509255 10052228 CV194507 NM_024301.5(FKRP):c.946C>T (p.Pro316Ser) variant DOID:0111241 congenital muscular dystrophy-dystroglycanopathy type A5 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 PMID:11592034|PMID:11741828|PMID:12666124|PMID:16368217|PMID:25135358|PMID:25741868|PMID:28492532|PMID:34509255 10052229 CV194508 NM_024301.5(FKRP):c.947C>G (p.Pro316Arg) variant DOID:0050560 Walker-Warburg syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:11592034|PMID:11741828|PMID:12654965|PMID:12666124|PMID:16368217|PMID:25135358|PMID:25741868|PMID:28492532 10052229 CV194508 NM_024301.5(FKRP):c.947C>G (p.Pro316Arg) variant DOID:0111237 congenital muscular dystrophy-dystroglycanopathy type A1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 PMID:11592034|PMID:11741828|PMID:12654965|PMID:12666124|PMID:16368217|PMID:25135358|PMID:25741868|PMID:28492532 10052229 CV194508 NM_024301.5(FKRP):c.947C>G (p.Pro316Arg) variant DOID:0111241 congenital muscular dystrophy-dystroglycanopathy type A5 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 PMID:11592034|PMID:11741828|PMID:12654965|PMID:12666124|PMID:16368217|PMID:25135358|PMID:25741868|PMID:28492532 10052230 CV194509 NM_024301.5(FKRP):c.964C>G (p.Leu322Val) variant DOID:0050560 Walker-Warburg syndrome IAGP D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:19917824|PMID:28492532 10052231 CV194510 NM_024301.5(FKRP):c.954C>T (p.Cys318=) variant DOID:0050560 Walker-Warburg syndrome IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy PMID:25741868|PMID:28492532 10052232 CV194513 NM_024675.4(PALB2):c.301G>C (p.Asp101His) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:28492532 10052232 CV194513 NM_024675.4(PALB2):c.301G>C (p.Asp101His) variant DOID:9008952 Breast Cancer, Familial IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:28492532 10052233 CV194515 NM_024809.5(TCTN2):c.429T>C (p.Ile143=) variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 10052234 CV194516 NM_025074.7(FRAS1):c.237T>C (p.Ala79=) variant DOID:0111405 Fraser syndrome 1 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Fraser syndrome 1 PMID:28492532 10052235 CV194517 NM_030777.4(SLC2A10):c.1464C>T (p.Leu488=) variant DOID:0050645 arterial tortuosity syndrome IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Arterial tortuosity syndrome PMID:25741868|PMID:28492532 10052235 CV194517 NM_030777.4(SLC2A10):c.1464C>T (p.Leu488=) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10052236 CV194518 NM_031433.4(MFRP):c.355A>G (p.Ile119Val) variant DOID:0060837 isolated microphthalmia 5 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:25741868|PMID:28492532 10052236 CV194518 NM_031433.4(MFRP):c.355A>G (p.Ile119Val) variant DOID:0060869 late-onset retinal degeneration IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Late-onset retinal degeneration PMID:25741868|PMID:28492532 10052236 CV194518 NM_031433.4(MFRP):c.355A>G (p.Ile119Val) variant DOID:8466 retinal degeneration IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinal degeneration PMID:25741868|PMID:28492532 10052237 CV194519 NM_031433.4(MFRP):c.315G>A (p.Leu105=) variant DOID:0060837 isolated microphthalmia 5 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Microphthalmia, isolated 5 PMID:28492532 10052238 CV194521 NM_031885.5(BBS2):c.525A>G (p.Gly175=) variant DOID:0110124 Bardet-Biedl syndrome 2 IAGP D RGD:8554872 20210119 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome type 2 PMID:28492532 10052238 CV194521 NM_031885.5(BBS2):c.525A>G (p.Gly175=) variant DOID:1935 Bardet-Biedl syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 10052239 CV194522 NM_032273.4(TMEM126A):c.314G>A (p.Arg105Gln) variant DOID:0111437 optic atrophy 7 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Optic atrophy 7 PMID:28492532 10052241 CV194524 NM_001122955.4(BSCL2):c.487-9C>T variant DOID:0050539 Charcot-Marie-Tooth disease type 2 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 10052242 CV194525 NM_033028.5(BBS4):c.208A>G (p.Ile70Val) variant DOID:0110126 Bardet-Biedl syndrome 4 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 4 PMID:12524598|PMID:28492532 10052242 CV194525 NM_033028.5(BBS4):c.208A>G (p.Ile70Val) variant DOID:1935 Bardet-Biedl syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:12524598|PMID:28492532 10052243 CV194526 NM_057176.3(BSND):c.744G>A (p.Thr248=) variant DOID:445 Bartter disease IAGP D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Bartter syndrome PMID:28492532 10052245 CV194528 NM_138694.4(PKHD1):c.158A>G (p.Asn53Ser) variant DOID:0080212 polycystic kidney disease 4 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: PKHD1-related condition PMID:25741868|PMID:28492532|PMID:31308072 10052245 CV194528 NM_138694.4(PKHD1):c.158A>G (p.Asn53Ser) variant DOID:0110860 polycystic kidney disease 3 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: PKD3 PMID:25741868|PMID:28492532|PMID:31308072 10052245 CV194528 NM_138694.4(PKHD1):c.158A>G (p.Asn53Ser) variant DOID:0110861 autosomal recessive polycystic kidney disease IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE, INFANTILE, TYPE I PMID:25741868|PMID:28492532|PMID:31308072 10052245 CV194528 NM_138694.4(PKHD1):c.158A>G (p.Asn53Ser) variant DOID:898 autosomal dominant polycystic kidney disease IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1 PMID:25741868|PMID:28492532|PMID:31308072 10052248 CV194533 NM_139058.3(ARX):c.1269C>T (p.His423=) variant DOID:0080468 developmental and epileptic encephalopathy 1 IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 PMID:28492532 10052248 CV194533 NM_139058.3(ARX):c.1269C>T (p.His423=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10052249 CV194534 NM_139058.3(ARX):c.1404G>C (p.Ala468=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10052250 CV194536 NM_001379081.2(FREM1):c.261C>T (p.Asn87=) variant DOID:9000566 Bifid Nose with or without Anorectal and Renal Anomalies IAGP D RGD:8554872 20250729 ClinVar ClinVar Annotator: match by term: BNAR syndrome PMID:25741868|PMID:28492532 10052250 CV194536 NM_001379081.2(FREM1):c.261C>T (p.Asn87=) variant DOID:9003259 Marles Greenberg Persaud Syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Manitoba Trichoanal syndrome PMID:25741868|PMID:28492532 10052250 CV194536 NM_001379081.2(FREM1):c.261C>T (p.Asn87=) variant DOID:9005762 Trigonocephaly 2 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Trigonocephaly 2 PMID:25741868|PMID:28492532 10052251 CV194538 NM_001134793.2(HYLS1):c.620G>A (p.Arg207Gln) variant DOID:630 genetic disease IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10052253 CV194540 NM_145239.3(PRRT2):c.1013T>C (p.Val338Ala) variant DOID:630 genetic disease IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:34670123 10052253 CV194540 NM_145239.3(PRRT2):c.1013T>C (p.Val338Ala) variant DOID:9009225 Episodic Kinesigenic Dyskinesia IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia PMID:25741868|PMID:28492532|PMID:34670123 10052254 CV194541 NM_145239.3(PRRT2):c.1020G>A (p.Lys340=) variant DOID:9009225 Episodic Kinesigenic Dyskinesia IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia PMID:28492532 10052255 CV194542 NM_153033.5(KCTD7):c.793G>A (p.Gly265Arg) variant DOID:0111446 progressive myoclonus epilepsy 3 IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: CEROID LIPOFUSCINOSIS, NEURONAL, 14 PMID:25741868|PMID:28492532|PMID:29056246|PMID:30295347 10052256 CV194544 NM_153717.3(EVC):c.569G>T (p.Arg190Leu) variant DOID:0111571 Weyers acrofacial dysostosis IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Curry-Hall syndrome PMID:25741868|PMID:28492532 10052256 CV194544 NM_153717.3(EVC):c.569G>T (p.Arg190Leu) variant DOID:12714 Ellis-Van Creveld syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ellis-van Creveld syndrome PMID:25741868|PMID:28492532 10052256 CV194544 NM_153717.3(EVC):c.569G>T (p.Arg190Leu) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10052257 CV194546 NM_002617.4(PEX10):c.712G>C (p.Gly238Arg) variant DOID:0080481 peroxisome biogenesis disorder 6A IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 6A PMID:25741868|PMID:28492532 10052257 CV194546 NM_002617.4(PEX10):c.712G>C (p.Gly238Arg) variant DOID:0081435 Peroxisome biogenesis disorder 6B IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 6B PMID:25741868|PMID:28492532 10052257 CV194546 NM_002617.4(PEX10):c.712G>C (p.Gly238Arg) variant DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 PMID:25741868|PMID:28492532 10052257 CV194546 NM_002617.4(PEX10):c.712G>C (p.Gly238Arg) variant DOID:905 Zellweger syndrome IAGP D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Zellweger syndrome PMID:25741868|PMID:28492532 10052258 CV194547 NM_002617.4(PEX10):c.611G>A (p.Arg204His) variant DOID:0080481 peroxisome biogenesis disorder 6A IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 6A PMID:28492532 10052258 CV194547 NM_002617.4(PEX10):c.611G>A (p.Arg204His) variant DOID:9008179 Peroxisome Biogenesis Disorder, Complementation Group 7 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group B PMID:28492532 10052258 CV194547 NM_002617.4(PEX10):c.611G>A (p.Arg204His) variant DOID:905 Zellweger syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Zellweger Spectrum PMID:28492532 10052259 CV194548 NM_176824.3(BBS7):c.223A>G (p.Ile75Val) variant DOID:0110129 Bardet-Biedl syndrome 7 IAGP D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: BBS7-related condition PMID:25741868|PMID:28492532 10052259 CV194548 NM_176824.3(BBS7):c.223A>G (p.Ile75Val) variant DOID:1935 Bardet-Biedl syndrome IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:25741868|PMID:28492532 10052259 CV194548 NM_176824.3(BBS7):c.223A>G (p.Ile75Val) variant DOID:630 genetic disease IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10052263 CV194556 NM_198506.5(LRIT3):c.1182A>G (p.Thr394=) variant DOID:0110864 congenital stationary night blindness 1F IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness 1F PMID:25741868|PMID:28492532 10052265 CV194561 NM_198859.4(PRICKLE2):c.330C>T (p.Arg110=) variant DOID:9008631 progressive myoclonus epilepsy 5 IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 5 PMID:28492532 10052266 CV194562 NM_207346.3(TSEN54):c.325C>G (p.Arg109Gly) variant DOID:0060264 pontocerebellar hypoplasia IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia PMID:25741868|PMID:28492532 10052266 CV194562 NM_207346.3(TSEN54):c.325C>G (p.Arg109Gly) variant DOID:0060266 pontocerebellar hypoplasia type 1B IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia PMID:25741868|PMID:28492532 10052267 CV194564 NM_213599.3(ANO5):c.155A>G (p.Asn52Ser) variant DOID:0110284 autosomal recessive limb-girdle muscular dystrophy type 2L IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2L PMID:22980763|PMID:23041008|PMID:23606453|PMID:25326637|PMID:25741868|PMID:25891276|PMID:26467025|PMID:26810512|PMID:26911675|PMID:28492532|PMID:30564623|PMID:30919934|PMID:31517061|PMID:31931849|PMID:32419263|PMID:35563815|PMID:36157496 10052267 CV194564 NM_213599.3(ANO5):c.155A>G (p.Asn52Ser) variant DOID:0111533 gnathodiaphyseal dysplasia IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Gnathodiaphyseal dysplasia PMID:22980763|PMID:23041008|PMID:23606453|PMID:25326637|PMID:25741868|PMID:25891276|PMID:26467025|PMID:26810512|PMID:26911675|PMID:28492532|PMID:30564623|PMID:30919934|PMID:31517061|PMID:31931849|PMID:32419263|PMID:35563815|PMID:36157496 10052268 CV194566 NM_000260.4(MYO7A):c.5494C>T (p.Arg1832Trp) variant DOID:0050439 Usher syndrome IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness PMID:24033266|PMID:25741868 10052268 CV194566 NM_000260.4(MYO7A):c.5494C>T (p.Arg1832Trp) variant DOID:0070655 Usher syndrome type 1B IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1B PMID:24033266|PMID:25741868 10052268 CV194566 NM_000260.4(MYO7A):c.5494C>T (p.Arg1832Trp) variant DOID:0110477 autosomal recessive nonsyndromic deafness 2 IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 2 PMID:24033266|PMID:25741868 10052268 CV194566 NM_000260.4(MYO7A):c.5494C>T (p.Arg1832Trp) variant DOID:0110826 Usher syndrome type 1 IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1 PMID:24033266|PMID:25741868 10052268 CV194566 NM_000260.4(MYO7A):c.5494C>T (p.Arg1832Trp) variant DOID:630 genetic disease IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868 10052269 CV194567 NM_000719.7(CACNA1C):c.4942G>A (p.Ala1648Thr) variant DOID:0060173 Timothy syndrome IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Timothy syndrome PMID:25741868|PMID:27930701|PMID:28492532|PMID:30279520|PMID:34999275 10052269 CV194567 NM_000719.7(CACNA1C):c.4942G>A (p.Ala1648Thr) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:27930701|PMID:28492532|PMID:30279520|PMID:34999275 10052271 CV194569 NM_001110556.2(FLNA):c.6516G>A (p.Gln2172=) variant DOID:0050454 periventricular nodular heterotopia IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Periventricular nodular heterotopia 1 PMID:25741868|PMID:28492532 10052271 CV194569 NM_001110556.2(FLNA):c.6516G>A (p.Gln2172=) variant DOID:0111784 otopalatodigital syndrome type 2 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II PMID:25741868|PMID:28492532 10052271 CV194569 NM_001110556.2(FLNA):c.6516G>A (p.Gln2172=) variant DOID:0111785 frontometaphyseal dysplasia IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Frontometaphyseal dysplasia PMID:25741868|PMID:28492532 10052271 CV194569 NM_001110556.2(FLNA):c.6516G>A (p.Gln2172=) variant DOID:0111788 Melnick-Needles syndrome IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles PMID:25741868|PMID:28492532 10052271 CV194569 NM_001110556.2(FLNA):c.6516G>A (p.Gln2172=) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10052271 CV194569 NM_001110556.2(FLNA):c.6516G>A (p.Gln2172=) variant DOID:9005082 Periventricular Nodular Heterotopia 4 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant PMID:25741868|PMID:28492532 10052272 CV194572 NM_003482.4(KMT2D):c.13588G>A (p.Asp4530Asn) variant DOID:0060473 Kabuki syndrome IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Kabuki syndrome PMID:25741868|PMID:28492532 10052272 CV194572 NM_003482.4(KMT2D):c.13588G>A (p.Asp4530Asn) variant DOID:9001255 Kabuki Syndrome 1 IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: KMT2D-Related Disorders PMID:25741868|PMID:28492532 10052273 CV194574 NM_004006.3(DMD):c.5693A>C (p.Lys1898Thr) variant DOID:11723 Duchenne muscular dystrophy IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:28492532 10052274 CV194577 NM_004369.4(COL6A3):c.8819C>T (p.Thr2940Met) variant DOID:0050663 Bethlem myopathy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, benign congenital PMID:25741868|PMID:28492532 10052274 CV194577 NM_004369.4(COL6A3):c.8819C>T (p.Thr2940Met) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:25741868|PMID:28492532 10052274 CV194577 NM_004369.4(COL6A3):c.8819C>T (p.Thr2940Met) variant DOID:630 genetic disease IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10052275 CV194578 NM_004369.4(COL6A3):c.8724C>T (p.Ala2908=) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:28492532 10052276 CV194579 NM_005045.4(RELN):c.6072+4C>G variant DOID:0060902 Norman-Roberts syndrome IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Norman-Roberts syndrome PMID:17576681|PMID:28492532|PMID:9536098 10052277 CV194581 NM_017534.6(MYH2):c.5780G>A (p.Arg1927Gln) variant DOID:0080719 congenital myopathy 6 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia PMID:25741868|PMID:28492532 10052278 CV194582 NM_152564.5(VPS13B):c.7087A>C (p.Lys2363Gln) variant DOID:0111590 Cohen syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: VPS13B-related condition PMID:28492532 10052278 CV194582 NM_152564.5(VPS13B):c.7087A>C (p.Lys2363Gln) variant DOID:9001162 Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness PMID:28492532 10052279 CV194583 NM_022124.6(CDH23):c.5131G>A (p.Val1711Ile) variant DOID:0050439 Usher syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:17850630|PMID:22899989|PMID:25333064|PMID:25587757|PMID:25741868|PMID:28492532 10052279 CV194583 NM_022124.6(CDH23):c.5131G>A (p.Val1711Ile) variant DOID:0110467 autosomal recessive nonsyndromic deafness 12 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 12 PMID:17850630|PMID:22899989|PMID:25333064|PMID:25587757|PMID:25741868|PMID:28492532 10052279 CV194583 NM_022124.6(CDH23):c.5131G>A (p.Val1711Ile) variant DOID:0110831 Usher syndrome type 1D IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1D PMID:17850630|PMID:22899989|PMID:25333064|PMID:25587757|PMID:25741868|PMID:28492532 10052279 CV194583 NM_022124.6(CDH23):c.5131G>A (p.Val1711Ile) variant DOID:0112008 pituitary adenoma 5 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pituitary adenoma 5, multiple types PMID:17850630|PMID:22899989|PMID:25333064|PMID:25587757|PMID:25741868|PMID:28492532 10052280 CV194584 NM_138694.4(PKHD1):c.6557G>C (p.Arg2186Thr) variant DOID:0080212 polycystic kidney disease 4 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease 4 PMID:25741868|PMID:28492532 10052280 CV194584 NM_138694.4(PKHD1):c.6557G>C (p.Arg2186Thr) variant DOID:0110861 autosomal recessive polycystic kidney disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease PMID:25741868|PMID:28492532 10052282 CV194586 NM_000088.4(COL1A1):c.3025C>T (p.Pro1009Ser) variant DOID:0110334 osteogenesis imperfecta type 1 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type I PMID:28492532 10052283 CV194587 NM_000719.7(CACNA1C):c.5091+8G>A variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10052284 CV194588 NM_001148.6(ANK2):c.11010C>T (p.Thr3670=) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10052285 CV194589 NM_001110556.2(FLNA):c.6871G>A (p.Gly2291Ser) variant DOID:0050454 periventricular nodular heterotopia IAGP D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Periventricular nodular heterotopia 1 PMID:25741868|PMID:28492532 10052285 CV194589 NM_001110556.2(FLNA):c.6871G>A (p.Gly2291Ser) variant DOID:0111784 otopalatodigital syndrome type 2 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II PMID:25741868|PMID:28492532 10052285 CV194589 NM_001110556.2(FLNA):c.6871G>A (p.Gly2291Ser) variant DOID:0111785 frontometaphyseal dysplasia IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Frontometaphyseal dysplasia PMID:25741868|PMID:28492532 10052285 CV194589 NM_001110556.2(FLNA):c.6871G>A (p.Gly2291Ser) variant DOID:0111788 Melnick-Needles syndrome IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles PMID:25741868|PMID:28492532 10052285 CV194589 NM_001110556.2(FLNA):c.6871G>A (p.Gly2291Ser) variant DOID:1059 intellectual disability IAGP D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 10052285 CV194589 NM_001110556.2(FLNA):c.6871G>A (p.Gly2291Ser) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10052285 CV194589 NM_001110556.2(FLNA):c.6871G>A (p.Gly2291Ser) variant DOID:9005082 Periventricular Nodular Heterotopia 4 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant PMID:25741868|PMID:28492532 10052286 CV194590 NM_001457.4(FLNB):c.6843C>T (p.Ile2281=) variant DOID:0080096 myofibrillar myopathy 5 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: FLNB-Related Disorders PMID:28492532 10052288 CV194592 NM_001844.5(COL2A1):c.2680-9C>T variant DOID:0080676 Stickler syndrome 1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Arthroophthalmopathy, hereditary progressive PMID:28492532 10052289 CV194596 NM_004369.4(COL6A3):c.9061G>C (p.Asp3021His) variant DOID:0050663 Bethlem myopathy IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Myopathy, benign congenital, with contractures PMID:25741868|PMID:28492532 10052289 CV194596 NM_004369.4(COL6A3):c.9061G>C (p.Asp3021His) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:25741868|PMID:28492532 10052290 CV194597 NM_004369.4(COL6A3):c.9012C>T (p.Ser3004=) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:28492532 10052291 CV194598 NM_004369.4(COL6A3):c.8970G>A (p.Lys2990=) variant DOID:0050663 Bethlem myopathy IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Collagen VI-related myopathy PMID:28492532 10052291 CV194598 NM_004369.4(COL6A3):c.8970G>A (p.Lys2990=) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:28492532 10052292 CV194599 NM_005045.4(RELN):c.6163C>T (p.Leu2055=) variant DOID:0060902 Norman-Roberts syndrome IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Norman-Roberts syndrome PMID:28492532 10052293 CV194600 NM_005045.4(RELN):c.6141C>T (p.Phe2047=) variant DOID:0060751 familial temporal lobe epilepsy 7 IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Familial temporal lobe epilepsy 7 PMID:25741868|PMID:26467025|PMID:28492532 10052293 CV194600 NM_005045.4(RELN):c.6141C>T (p.Phe2047=) variant DOID:0060902 Norman-Roberts syndrome IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Norman-Roberts syndrome PMID:25741868|PMID:26467025|PMID:28492532 10052294 CV194601 NM_005045.4(RELN):c.6278A>C (p.His2093Pro) variant DOID:0060751 familial temporal lobe epilepsy 7 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Familial temporal lobe epilepsy 7 PMID:28492532 10052294 CV194601 NM_005045.4(RELN):c.6278A>C (p.His2093Pro) variant DOID:0060902 Norman-Roberts syndrome IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Lissencephaly 2 PMID:28492532 10052294 CV194601 NM_005045.4(RELN):c.6278A>C (p.His2093Pro) variant DOID:630 genetic disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10052296 CV194603 NM_001364905.1(LRBA):c.6322G>A (p.Asp2108Asn) variant DOID:0081151 common variable immunodeficiency 8 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency 8, with autoimmunity PMID:28492532 10052296 CV194603 NM_001364905.1(LRBA):c.6322G>A (p.Asp2108Asn) variant DOID:630 genetic disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10052297 CV194606 NM_182961.4(SYNE1):c.5999G>A (p.Arg2000Lys) variant DOID:0070249 autosomal dominant Emery-Dreifuss muscular dystrophy 4 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant PMID:25741868|PMID:26467025|PMID:28492532 10052297 CV194606 NM_182961.4(SYNE1):c.5999G>A (p.Arg2000Lys) variant DOID:0111618 autosomal recessive spinocerebellar ataxia 8 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 PMID:25741868|PMID:26467025|PMID:28492532 10052300 CV194611 NM_000088.4(COL1A1):c.3060C>T (p.Ala1020=) variant DOID:0110334 osteogenesis imperfecta type 1 IAGP D RGD:8554872 20180717 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type I PMID:28492532 10052300 CV194611 NM_000088.4(COL1A1):c.3060C>T (p.Ala1020=) variant DOID:12347 osteogenesis imperfecta IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Lobstein disease PMID:28492532 10052301 CV194612 NM_000089.4(COL1A2):c.2693G>T (p.Gly898Val) variant DOID:9007227 Bruck Syndrome 1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Bruck syndrome 1 10052302 CV194614 NM_000426.4(LAMA2):c.6002G>A (p.Arg2001Lys) variant DOID:0110636 congenital merosin-deficient muscular dystrophy 1A IAGP D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Laminin alpha 2-related dystrophy PMID:25741868|PMID:28492532 10052303 CV194615 NM_000719.7(CACNA1C):c.5202C>T (p.Gly1734=) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10052304 CV194616 NM_000719.7(CACNA1C):c.5307C>T (p.Asn1769=) variant DOID:0060173 Timothy syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: CACNA1C-related disorder PMID:28492532 10052304 CV194616 NM_000719.7(CACNA1C):c.5307C>T (p.Asn1769=) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10052305 CV194617 NM_001142800.2(EYS):c.8080A>G (p.Ile2694Val) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive PMID:25741868|PMID:28492532|PMID:32037395|PMID:3248392|PMID:32483926 10052305 CV194617 NM_001142800.2(EYS):c.8080A>G (p.Ile2694Val) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532|PMID:32037395|PMID:3248392|PMID:32483926 10052307 CV194619 NM_001376.5(DYNC1H1):c.8478A>G (p.Ala2826=) variant DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2O PMID:25741868|PMID:28492532 10052307 CV194619 NM_001376.5(DYNC1H1):c.8478A>G (p.Ala2826=) variant DOID:10595 Charcot-Marie-Tooth disease IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:25741868|PMID:28492532 10052307 CV194619 NM_001376.5(DYNC1H1):c.8478A>G (p.Ala2826=) variant DOID:1441 autosomal dominant cerebellar ataxia IAGP D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia PMID:25741868|PMID:28492532 10052307 CV194619 NM_001376.5(DYNC1H1):c.8478A>G (p.Ala2826=) variant DOID:630 genetic disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10052307 CV194619 NM_001376.5(DYNC1H1):c.8478A>G (p.Ala2826=) variant DOID:9002121 Spinocerebellar Ataxias IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Spinocerebellar Ataxia, Dominant PMID:25741868|PMID:28492532 10052308 CV194620 NM_001110556.2(FLNA):c.6997C>T (p.Arg2333Cys) variant DOID:0050454 periventricular nodular heterotopia IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:28492532 10052309 CV194621 NM_001110556.2(FLNA):c.7013C>G (p.Ser2338Cys) variant DOID:0050454 periventricular nodular heterotopia IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Periventricular nodular heterotopia 1 PMID:28492532 10052309 CV194621 NM_001110556.2(FLNA):c.7013C>G (p.Ser2338Cys) variant DOID:0111784 otopalatodigital syndrome type 2 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II PMID:28492532 10052309 CV194621 NM_001110556.2(FLNA):c.7013C>G (p.Ser2338Cys) variant DOID:0111785 frontometaphyseal dysplasia IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Frontometaphyseal dysplasia PMID:28492532 10052309 CV194621 NM_001110556.2(FLNA):c.7013C>G (p.Ser2338Cys) variant DOID:0111788 Melnick-Needles syndrome IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles PMID:28492532 10052309 CV194621 NM_001110556.2(FLNA):c.7013C>G (p.Ser2338Cys) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:28492532 10052309 CV194621 NM_001110556.2(FLNA):c.7013C>G (p.Ser2338Cys) variant DOID:9005082 Periventricular Nodular Heterotopia 4 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant PMID:28492532 10052310 CV194623 NM_001458.5(FLNC):c.6998-5C>T variant DOID:0080096 myofibrillar myopathy 5 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 5 PMID:25741868|PMID:28492532 10052310 CV194623 NM_001458.5(FLNC):c.6998-5C>T variant DOID:0110327 hypertrophic cardiomyopathy 26 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 26 PMID:25741868|PMID:28492532 10052310 CV194623 NM_001458.5(FLNC):c.6998-5C>T variant DOID:0111190 distal myopathy 4 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Distal myopathy with posterior leg and anterior hand involvement PMID:25741868|PMID:28492532 10052310 CV194623 NM_001458.5(FLNC):c.6998-5C>T variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:28492532 10052311 CV194624 NM_001130987.2(DYSF):c.4629C>G (p.Val1543=) variant DOID:0110274 autosomal recessive limb-girdle muscular dystrophy IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy PMID:25741868|PMID:26467025|PMID:28492532 10052311 CV194624 NM_001130987.2(DYSF):c.4629C>G (p.Val1543=) variant DOID:0110276 autosomal recessive limb-girdle muscular dystrophy type 2B IAGP D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 3 PMID:25741868|PMID:26467025|PMID:28492532 10052311 CV194624 NM_001130987.2(DYSF):c.4629C>G (p.Val1543=) variant DOID:9004518 Dysferlinopathy IAGP D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Dysferlinopathy PMID:25741868|PMID:26467025|PMID:28492532 10052312 CV194625 NM_004369.4(COL6A3):c.9248C>A (p.Pro3083His) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:25741868|PMID:28492532 10052313 CV194626 NM_005045.4(RELN):c.6519C>T (p.Phe2173=) variant DOID:0060902 Norman-Roberts syndrome IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Norman-Roberts syndrome PMID:28492532 10052314 CV194627 NM_005045.4(RELN):c.6520G>A (p.Glu2174Lys) variant DOID:0060748 familial temporal lobe epilepsy 1 IAGP D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Epilepsy, lateral temporal lobe, autosomal dominant PMID:25741868|PMID:28492532 10052314 CV194627 NM_005045.4(RELN):c.6520G>A (p.Glu2174Lys) variant DOID:0060751 familial temporal lobe epilepsy 7 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Familial temporal lobe epilepsy 7 PMID:25741868|PMID:28492532 10052314 CV194627 NM_005045.4(RELN):c.6520G>A (p.Glu2174Lys) variant DOID:0060902 Norman-Roberts syndrome IAGP D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Lissencephaly 2 PMID:25741868|PMID:28492532 10052314 CV194627 NM_005045.4(RELN):c.6520G>A (p.Glu2174Lys) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10052315 CV194631 NM_006445.4(PRPF8):c.6792G>A (p.Ser2264=) variant DOID:0110403 retinitis pigmentosa 13 IAGP D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: PRPF8-related condition PMID:28492532 10052315 CV194631 NM_006445.4(PRPF8):c.6792G>A (p.Ser2264=) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532 10052317 CV194633 NM_152564.5(VPS13B):c.7712C>T (p.Ser2571Phe) variant DOID:0111590 Cohen syndrome IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30792901 10052317 CV194633 NM_152564.5(VPS13B):c.7712C>T (p.Ser2571Phe) variant DOID:630 genetic disease IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30792901 10052318 CV194634 NM_032119.4(ADGRV1):c.9083A>G (p.Asn3028Ser) variant DOID:0111305 familial febrile seizures 4 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: ADGRV1-related disorder PMID:24033266|PMID:28492532 10052319 CV194637 NM_000088.4(COL1A1):c.3123C>T (p.Pro1041=) variant DOID:0110334 osteogenesis imperfecta type 1 IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type I PMID:25741868|PMID:26467025|PMID:28492532 10052319 CV194637 NM_000088.4(COL1A1):c.3123C>T (p.Pro1041=) variant DOID:12347 osteogenesis imperfecta IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Lobstein disease PMID:25741868|PMID:26467025|PMID:28492532 10052319 CV194637 NM_000088.4(COL1A1):c.3123C>T (p.Pro1041=) variant DOID:13359 Ehlers-Danlos syndrome IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:25741868|PMID:26467025|PMID:28492532 10052320 CV194639 NM_000426.4(LAMA2):c.6161A>G (p.Gln2054Arg) variant DOID:0110636 congenital merosin-deficient muscular dystrophy 1A IAGP D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Merosin deficient congenital muscular dystrophy PMID:25741868|PMID:26467025|PMID:28492532 10052320 CV194639 NM_000426.4(LAMA2):c.6161A>G (p.Gln2054Arg) variant DOID:1059 intellectual disability IAGP D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:26467025|PMID:28492532 10052320 CV194639 NM_000426.4(LAMA2):c.6161A>G (p.Gln2054Arg) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 10052320 CV194639 NM_000426.4(LAMA2):c.6161A>G (p.Gln2054Arg) variant DOID:9007352 Congenital Muscular Dystrophy due to Partial LAMA2 Deficiency IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy due to partial LAMA2 deficiency PMID:25741868|PMID:26467025|PMID:28492532 10052321 CV194641 NM_001148.6(ANK2):c.11538C>T (p.Leu3846=) variant DOID:0111700 ankyrin-B-related cardiac arrhythmia IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: ANK2-related condition PMID:28492532 10052321 CV194641 NM_001148.6(ANK2):c.11538C>T (p.Leu3846=) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10052323 CV194644 NM_004369.4(COL6A3):c.9487G>A (p.Ala3163Thr) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:28492532 10052324 CV194645 NM_004369.4(COL6A3):c.9351C>T (p.Asp3117=) variant DOID:0050663 Bethlem myopathy IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Collagen VI-related myopathy PMID:28492532 10052324 CV194645 NM_004369.4(COL6A3):c.9351C>T (p.Asp3117=) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:28492532 10052325 CV194647 NM_005120.3(MED12):c.6285A>G (p.Gln2095=) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:28492532 10052325 CV194647 NM_005120.3(MED12):c.6285A>G (p.Gln2095=) variant DOID:14711 FG syndrome IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Opitz-Kaveggia syndrome PMID:28492532 10052327 CV194650 NM_005529.7(HSPG2):c.5335C>T (p.Arg1779Trp) variant DOID:630 genetic disease IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 10052328 CV194651 NM_006031.6(PCNT):c.9594G>A (p.Thr3198=) variant DOID:0060609 microcephalic osteodysplastic primordial dwarfism type II IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: PCNT-related condition PMID:28492532 10052329 CV194652 NM_016239.4(MYO15A):c.7984C>G (p.Leu2662Val) variant DOID:0110488 autosomal recessive nonsyndromic deafness 3 IAGP D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 3 PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386 10052329 CV194652 NM_016239.4(MYO15A):c.7984C>G (p.Leu2662Val) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386 10052329 CV194652 NM_016239.4(MYO15A):c.7984C>G (p.Leu2662Val) variant DOID:9004538 Hearing Loss IAGP D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386 10052330 CV194654 NM_032119.4(ADGRV1):c.9366A>G (p.Thr3122=) variant DOID:0110839 Usher syndrome type 2C IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Usher syndrome, type 2C PMID:24033266|PMID:24498627|PMID:25741868|PMID:26467025|PMID:28492532 10052331 CV194655 NM_182961.4(SYNE1):c.6231-7A>G variant DOID:0111618 autosomal recessive spinocerebellar ataxia 8 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type PMID:28492532 10052333 CV194659 NM_000719.7(CACNA1C):c.5644T>C (p.Ser1882Pro) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25633834|PMID:28492532 10052334 CV194660 NM_001110556.2(FLNA):c.7222G>A (p.Gly2408Ser) variant DOID:0050454 periventricular nodular heterotopia IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:28492532 10052334 CV194660 NM_001110556.2(FLNA):c.7222G>A (p.Gly2408Ser) variant DOID:0111784 otopalatodigital syndrome type 2 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II PMID:28492532 10052334 CV194660 NM_001110556.2(FLNA):c.7222G>A (p.Gly2408Ser) variant DOID:0111785 frontometaphyseal dysplasia IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Frontometaphyseal dysplasia PMID:28492532 10052334 CV194660 NM_001110556.2(FLNA):c.7222G>A (p.Gly2408Ser) variant DOID:0111788 Melnick-Needles syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles PMID:28492532 10052334 CV194660 NM_001110556.2(FLNA):c.7222G>A (p.Gly2408Ser) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:28492532 10052334 CV194660 NM_001110556.2(FLNA):c.7222G>A (p.Gly2408Ser) variant DOID:9005082 Periventricular Nodular Heterotopia 4 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: PERIVENTRICULAR NODULAR HETEROTOPIA 4 PMID:28492532 10052335 CV194661 NM_001457.4(FLNB):c.7254C>T (p.Ser2418=) variant DOID:14764 Larsen syndrome IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: FLNB-Related Spectrum Disorders PMID:28492532 10052337 CV194663 NM_001458.5(FLNC):c.7289C>T (p.Ala2430Val) variant DOID:0080096 myofibrillar myopathy 5 IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 5 PMID:25351925|PMID:25741868|PMID:26555887|PMID:28356264|PMID:28492532|PMID:31641117|PMID:33710525|PMID:37937776 10052337 CV194663 NM_001458.5(FLNC):c.7289C>T (p.Ala2430Val) variant DOID:0110327 hypertrophic cardiomyopathy 26 IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 26 PMID:25351925|PMID:25741868|PMID:26555887|PMID:28356264|PMID:28492532|PMID:31641117|PMID:33710525|PMID:37937776 10052337 CV194663 NM_001458.5(FLNC):c.7289C>T (p.Ala2430Val) variant DOID:0111190 distal myopathy 4 IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Distal myopathy with posterior leg and anterior hand involvement PMID:25351925|PMID:25741868|PMID:26555887|PMID:28356264|PMID:28492532|PMID:31641117|PMID:33710525|PMID:37937776 10052337 CV194663 NM_001458.5(FLNC):c.7289C>T (p.Ala2430Val) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant PMID:25351925|PMID:25741868|PMID:26555887|PMID:28356264|PMID:28492532|PMID:31641117|PMID:33710525|PMID:37937776 10052338 CV194666 NM_005751.5(AKAP9):c.10767G>A (p.Leu3589=) variant DOID:0110652 long QT syndrome 11 IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Long QT syndrome 11 PMID:28492532 10052338 CV194666 NM_005751.5(AKAP9):c.10767G>A (p.Leu3589=) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10052339 CV194667 NM_022124.6(CDH23):c.5722G>A (p.Val1908Ile) variant DOID:0050439 Usher syndrome IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness PMID:17850630|PMID:2289998|PMID:22899989|PMID:24033266|PMID:25587757|PMID:25963016|PMID:28492532 10052339 CV194667 NM_022124.6(CDH23):c.5722G>A (p.Val1908Ile) variant DOID:0110467 autosomal recessive nonsyndromic deafness 12 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 12 PMID:17850630|PMID:2289998|PMID:22899989|PMID:24033266|PMID:25587757|PMID:25963016|PMID:28492532 10052339 CV194667 NM_022124.6(CDH23):c.5722G>A (p.Val1908Ile) variant DOID:0110826 Usher syndrome type 1 IAGP D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1 PMID:17850630|PMID:2289998|PMID:22899989|PMID:24033266|PMID:25587757|PMID:25963016|PMID:28492532 10052339 CV194667 NM_022124.6(CDH23):c.5722G>A (p.Val1908Ile) variant DOID:0110831 Usher syndrome type 1D IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1D PMID:17850630|PMID:2289998|PMID:22899989|PMID:24033266|PMID:25587757|PMID:25963016|PMID:28492532 10052340 CV194670 NM_206933.4(USH2A):c.8730T>A (p.Phe2910Leu) variant DOID:0110360 retinitis pigmentosa 39 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 39 PMID:25741868|PMID:28492532|PMID:30311386 10052340 CV194670 NM_206933.4(USH2A):c.8730T>A (p.Phe2910Leu) variant DOID:0110838 Usher syndrome type 2A IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2A PMID:25741868|PMID:28492532|PMID:30311386 10052340 CV194670 NM_206933.4(USH2A):c.8730T>A (p.Phe2910Leu) variant DOID:9004538 Hearing Loss IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:25741868|PMID:28492532|PMID:30311386 10052341 CV194672 NM_000719.7(CACNA1C):c.5772G>C (p.Leu1924=) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10052342 CV194673 NM_000719.7(CACNA1C):c.5706A>G (p.Glu1902=) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10052344 CV194675 NM_001127222.2(CACNA1A):c.6398G>A (p.Arg2133Gln) variant DOID:0050990 episodic ataxia type 2 IAGP D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 10052344 CV194675 NM_001127222.2(CACNA1A):c.6398G>A (p.Arg2133Gln) variant DOID:0080454 developmental and epileptic encephalopathy 42 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 42 PMID:28492532 10052344 CV194675 NM_001127222.2(CACNA1A):c.6398G>A (p.Arg2133Gln) variant DOID:630 genetic disease IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10052345 CV194676 NM_001277115.2(DNAH11):c.7325A>G (p.Lys2442Arg) variant DOID:0110605 primary ciliary dyskinesia 7 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 7 PMID:28492532 10052345 CV194676 NM_001277115.2(DNAH11):c.7325A>G (p.Lys2442Arg) variant DOID:9562 primary ciliary dyskinesia IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 10052346 CV194678 NM_001369.3(DNAH5):c.7531C>T (p.Arg2511Trp) variant DOID:0110599 primary ciliary dyskinesia 3 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 3 PMID:24033266|PMID:25741868|PMID:28492532 10052346 CV194678 NM_001369.3(DNAH5):c.7531C>T (p.Arg2511Trp) variant DOID:9562 primary ciliary dyskinesia IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:24033266|PMID:25741868|PMID:28492532 10052347 CV194679 NM_001110556.2(FLNA):c.7506C>T (p.Gly2502=) variant DOID:0050454 periventricular nodular heterotopia IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:28492532 10052347 CV194679 NM_001110556.2(FLNA):c.7506C>T (p.Gly2502=) variant DOID:0111784 otopalatodigital syndrome type 2 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II PMID:28492532 10052347 CV194679 NM_001110556.2(FLNA):c.7506C>T (p.Gly2502=) variant DOID:0111785 frontometaphyseal dysplasia IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Frontometaphyseal dysplasia PMID:28492532 10052347 CV194679 NM_001110556.2(FLNA):c.7506C>T (p.Gly2502=) variant DOID:0111788 Melnick-Needles syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Melnick-Needles syndrome PMID:28492532 10052347 CV194679 NM_001110556.2(FLNA):c.7506C>T (p.Gly2502=) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:28492532 10052347 CV194679 NM_001110556.2(FLNA):c.7506C>T (p.Gly2502=) variant DOID:9005082 Periventricular Nodular Heterotopia 4 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: PERIVENTRICULAR NODULAR HETEROTOPIA 4 PMID:28492532 10052348 CV194682 NM_001130987.2(DYSF):c.5010C>T (p.Phe1670=) variant DOID:0110276 autosomal recessive limb-girdle muscular dystrophy type 2B IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 3 PMID:28492532 10052349 CV194683 NM_004006.3(DMD):c.6571C>T (p.Arg2191Trp) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:11710958|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:7599634|PMID:7849724 10052349 CV194683 NM_004006.3(DMD):c.6571C>T (p.Arg2191Trp) variant DOID:11723 Duchenne muscular dystrophy IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:11710958|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:7599634|PMID:7849724 10052349 CV194683 NM_004006.3(DMD):c.6571C>T (p.Arg2191Trp) variant DOID:9883 Becker muscular dystrophy IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Muscular dystrophy pseudohypertrophic progressive, Becker type PMID:11710958|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:7599634|PMID:7849724 10052350 CV194684 NM_004006.3(DMD):c.6586T>C (p.Cys2196Arg) variant DOID:11723 Duchenne muscular dystrophy IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:28492532 10052351 CV194685 NM_001164508.2(NEB):c.5555T>G (p.Met1852Arg) variant DOID:0110928 nemaline myopathy 2 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 2 PMID:24033266|PMID:25741868|PMID:28492532 10052354 CV194688 NM_006031.6(PCNT):c.9707G>A (p.Arg3236Gln) variant DOID:0060609 microcephalic osteodysplastic primordial dwarfism type II IAGP D RGD:8554872 20200310 ClinVar ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism type 2 PMID:25741868|PMID:28492532 10052355 CV194689 NM_152564.5(VPS13B):c.8173A>G (p.Ile2725Val) variant DOID:0111590 Cohen syndrome IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 10052358 CV194694 NM_133433.4(NIPBL):c.7728T>C (p.Tyr2576=) variant DOID:0080505 Cornelia de Lange syndrome 1 IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 PMID:25741868|PMID:28492532 10052358 CV194694 NM_133433.4(NIPBL):c.7728T>C (p.Tyr2576=) variant DOID:11725 Cornelia de Lange syndrome IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Brachmann de Lange syndrome PMID:25741868|PMID:28492532 10052358 CV194694 NM_133433.4(NIPBL):c.7728T>C (p.Tyr2576=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10052359 CV194698 NM_000393.5(COL5A2):c.3209G>A (p.Arg1070His) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:28492532|PMID:28991257 10052359 CV194698 NM_000393.5(COL5A2):c.3209G>A (p.Arg1070His) variant DOID:14720 Ehlers-Danlos syndrome classic type 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1 PMID:28492532|PMID:28991257 10052360 CV194699 NM_000719.7(CACNA1C):c.6116C>G (p.Ala2039Gly) variant DOID:0060674 catecholaminergic polymorphic ventricular tachycardia IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25260352|PMID:25633834|PMID:25741868|PMID:28492532|PMID:30847666 10052360 CV194699 NM_000719.7(CACNA1C):c.6116C>G (p.Ala2039Gly) variant DOID:0110649 long QT syndrome 8 IAGP D RGD:8554872 20240305 ClinVar ClinVar Annotator: match by term: Long qt syndrome 8 PMID:25260352|PMID:25633834|PMID:25741868|PMID:28492532|PMID:30847666 10052360 CV194699 NM_000719.7(CACNA1C):c.6116C>G (p.Ala2039Gly) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25260352|PMID:25633834|PMID:25741868|PMID:28492532|PMID:30847666 10052361 CV194700 NM_001127222.2(CACNA1A):c.6737C>T (p.Ser2246Phe) variant DOID:0050990 episodic ataxia type 2 IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Episodic ataxia type 2 PMID:28492532 10052361 CV194700 NM_001127222.2(CACNA1A):c.6737C>T (p.Ser2246Phe) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10052363 CV194703 NM_001110556.2(FLNA):c.7686C>T (p.Ala2562=) variant DOID:0050454 periventricular nodular heterotopia IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular PMID:25741868|PMID:28492532 10052363 CV194703 NM_001110556.2(FLNA):c.7686C>T (p.Ala2562=) variant DOID:0111784 otopalatodigital syndrome type 2 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II PMID:25741868|PMID:28492532 10052363 CV194703 NM_001110556.2(FLNA):c.7686C>T (p.Ala2562=) variant DOID:0111785 frontometaphyseal dysplasia IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Frontometaphyseal dysplasia PMID:25741868|PMID:28492532 10052363 CV194703 NM_001110556.2(FLNA):c.7686C>T (p.Ala2562=) variant DOID:0111788 Melnick-Needles syndrome IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles PMID:25741868|PMID:28492532 10052363 CV194703 NM_001110556.2(FLNA):c.7686C>T (p.Ala2562=) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10052363 CV194703 NM_001110556.2(FLNA):c.7686C>T (p.Ala2562=) variant DOID:9005082 Periventricular Nodular Heterotopia 4 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant PMID:25741868|PMID:28492532 10052364 CV194706 NM_004006.3(DMD):c.6732G>C (p.Gln2244His) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:28492532 10052364 CV194706 NM_004006.3(DMD):c.6732G>C (p.Gln2244His) variant DOID:11723 Duchenne muscular dystrophy IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:28492532 10052364 CV194706 NM_004006.3(DMD):c.6732G>C (p.Gln2244His) variant DOID:9883 Becker muscular dystrophy IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Muscular dystrophy pseudohypertrophic progressive, Becker type PMID:28492532 10052365 CV194707 NM_001164508.2(NEB):c.5801G>A (p.Gly1934Asp) variant DOID:0110928 nemaline myopathy 2 IAGP D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 2 PMID:28492532 10052367 CV194711 NM_001364905.1(LRBA):c.6887C>A (p.Thr2296Asn) variant DOID:0081151 common variable immunodeficiency 8 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency 8, with autoimmunity PMID:25741868|PMID:28492532 10052368 CV194712 NM_001384732.1(CPLANE1):c.8958+4A>C variant DOID:0110986 Joubert Syndrome 17 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Joubert syndrome 17 PMID:25741868|PMID:28492532 10052369 CV194714 NM_025074.7(FRAS1):c.6473A>C (p.Glu2158Ala) variant DOID:0111405 Fraser syndrome 1 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Fraser syndrome 1 PMID:25741868 10052369 CV194714 NM_025074.7(FRAS1):c.6473A>C (p.Glu2158Ala) variant DOID:630 genetic disease IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 10052371 CV194716 NM_138694.4(PKHD1):c.7307C>T (p.Thr2436Ile) variant DOID:0080212 polycystic kidney disease 4 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: PKHD1-related condition PMID:25741868|PMID:28492532 10052371 CV194716 NM_138694.4(PKHD1):c.7307C>T (p.Thr2436Ile) variant DOID:0110861 autosomal recessive polycystic kidney disease IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease PMID:25741868|PMID:28492532 10052371 CV194716 NM_138694.4(PKHD1):c.7307C>T (p.Thr2436Ile) variant DOID:898 autosomal dominant polycystic kidney disease IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1 PMID:25741868|PMID:28492532 10052373 CV194719 NM_000426.4(LAMA2):c.6629T>C (p.Val2210Ala) variant DOID:0110636 congenital merosin-deficient muscular dystrophy 1A IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Laminin alpha 2-related dystrophy PMID:25741868|PMID:28492532 10052373 CV194719 NM_000426.4(LAMA2):c.6629T>C (p.Val2210Ala) variant DOID:9007352 Congenital Muscular Dystrophy due to Partial LAMA2 Deficiency IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy due to partial LAMA2 deficiency PMID:25741868|PMID:28492532 10052374 CV194721 NM_000719.7(CACNA1C):c.6161A>G (p.Lys2054Arg) variant DOID:0060173 Timothy syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Timothy syndrome PMID:25741868|PMID:28492532 10052374 CV194721 NM_000719.7(CACNA1C):c.6161A>G (p.Lys2054Arg) variant DOID:0110220 Brugada syndrome 3 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Brugada syndrome 3 PMID:25741868|PMID:28492532 10052374 CV194721 NM_000719.7(CACNA1C):c.6161A>G (p.Lys2054Arg) variant DOID:0110649 long QT syndrome 8 IAGP D RGD:8554872 20240305 ClinVar ClinVar Annotator: match by term: Long qt syndrome 8 PMID:25741868|PMID:28492532 10052374 CV194721 NM_000719.7(CACNA1C):c.6161A>G (p.Lys2054Arg) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10052375 CV194722 NM_001110556.2(FLNA):c.7878C>T (p.Tyr2626=) variant DOID:0050454 periventricular nodular heterotopia IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Periventricular nodular heterotopia 1 PMID:28492532 10052375 CV194722 NM_001110556.2(FLNA):c.7878C>T (p.Tyr2626=) variant DOID:0111784 otopalatodigital syndrome type 2 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II PMID:28492532 10052375 CV194722 NM_001110556.2(FLNA):c.7878C>T (p.Tyr2626=) variant DOID:0111785 frontometaphyseal dysplasia IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Frontometaphyseal dysplasia PMID:28492532 10052375 CV194722 NM_001110556.2(FLNA):c.7878C>T (p.Tyr2626=) variant DOID:0111788 Melnick-Needles syndrome IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles PMID:28492532 10052375 CV194722 NM_001110556.2(FLNA):c.7878C>T (p.Tyr2626=) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:28492532 10052375 CV194722 NM_001110556.2(FLNA):c.7878C>T (p.Tyr2626=) variant DOID:9005082 Periventricular Nodular Heterotopia 4 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant PMID:28492532 10052376 CV194723 NM_001110556.2(FLNA):c.7794G>A (p.Arg2598=) variant DOID:0050454 periventricular nodular heterotopia IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:28492532 10052376 CV194723 NM_001110556.2(FLNA):c.7794G>A (p.Arg2598=) variant DOID:0111784 otopalatodigital syndrome type 2 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II PMID:28492532 10052376 CV194723 NM_001110556.2(FLNA):c.7794G>A (p.Arg2598=) variant DOID:0111785 frontometaphyseal dysplasia IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Frontometaphyseal dysplasia PMID:28492532 10052376 CV194723 NM_001110556.2(FLNA):c.7794G>A (p.Arg2598=) variant DOID:0111788 Melnick-Needles syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles PMID:28492532 10052376 CV194723 NM_001110556.2(FLNA):c.7794G>A (p.Arg2598=) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:28492532 10052376 CV194723 NM_001110556.2(FLNA):c.7794G>A (p.Arg2598=) variant DOID:9005082 Periventricular Nodular Heterotopia 4 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant PMID:28492532 10052377 CV194724 NM_001458.5(FLNC):c.7862G>A (p.Arg2621Gln) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:25741868|PMID:28492532|PMID:30086531 10052377 CV194724 NM_001458.5(FLNC):c.7862G>A (p.Arg2621Gln) variant DOID:0080096 myofibrillar myopathy 5 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 5 PMID:25741868|PMID:28492532|PMID:30086531 10052377 CV194724 NM_001458.5(FLNC):c.7862G>A (p.Arg2621Gln) variant DOID:0110327 hypertrophic cardiomyopathy 26 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 26 PMID:25741868|PMID:28492532|PMID:30086531 10052377 CV194724 NM_001458.5(FLNC):c.7862G>A (p.Arg2621Gln) variant DOID:0111190 distal myopathy 4 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Distal myopathy with posterior leg and anterior hand involvement PMID:25741868|PMID:28492532|PMID:30086531 10052377 CV194724 NM_001458.5(FLNC):c.7862G>A (p.Arg2621Gln) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant PMID:25741868|PMID:28492532|PMID:30086531 10052378 CV194727 NM_001130987.2(DYSF):c.5389C>G (p.Gln1797Glu) variant DOID:0110276 autosomal recessive limb-girdle muscular dystrophy type 2B IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 3 PMID:28492532 10052378 CV194727 NM_001130987.2(DYSF):c.5389C>G (p.Gln1797Glu) variant DOID:630 genetic disease IAGP D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10052378 CV194727 NM_001130987.2(DYSF):c.5389C>G (p.Gln1797Glu) variant DOID:9004518 Dysferlinopathy IAGP D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Dysferlinopathy PMID:28492532 10052380 CV194729 NM_005045.4(RELN):c.7431C>T (p.Ile2477=) variant DOID:0060902 Norman-Roberts syndrome IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Norman-Roberts syndrome PMID:28492532 10052381 CV194730 NM_005529.7(HSPG2):c.5934G>A (p.Arg1978=) variant DOID:0090005 Schwartz-Jampel syndrome 1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: HSPG2-related disorder PMID:28492532 10052384 CV194737 NM_182961.4(SYNE1):c.6826-6A>G variant DOID:0070249 autosomal dominant Emery-Dreifuss muscular dystrophy 4 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant PMID:26467025|PMID:28492532 10052384 CV194737 NM_182961.4(SYNE1):c.6826-6A>G variant DOID:0111618 autosomal recessive spinocerebellar ataxia 8 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 PMID:26467025|PMID:28492532 10052386 CV194739 NM_001267550.2(TTN):c.14486A>C (p.Gln4829Pro) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10052386 CV194739 NM_001267550.2(TTN):c.14486A>C (p.Gln4829Pro) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Myopathy, early-onset, with fatal cardiomyopathy PMID:25741868|PMID:28492532 10052386 CV194739 NM_001267550.2(TTN):c.14486A>C (p.Gln4829Pro) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2J PMID:25741868|PMID:28492532 10052386 CV194739 NM_001267550.2(TTN):c.14486A>C (p.Gln4829Pro) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:25741868|PMID:28492532 10052386 CV194739 NM_001267550.2(TTN):c.14486A>C (p.Gln4829Pro) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:25741868|PMID:28492532 10052386 CV194739 NM_001267550.2(TTN):c.14486A>C (p.Gln4829Pro) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:25741868|PMID:28492532 10052387 CV194740 NM_206933.4(USH2A):c.9286G>A (p.Val3096Met) variant DOID:0050439 Usher syndrome IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:25741868|PMID:28492532 10052387 CV194740 NM_206933.4(USH2A):c.9286G>A (p.Val3096Met) variant DOID:0110838 Usher syndrome type 2A IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2A PMID:25741868|PMID:28492532 10052389 CV194743 NM_000426.4(LAMA2):c.6816T>C (p.Asp2272=) variant DOID:0110636 congenital merosin-deficient muscular dystrophy 1A IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Laminin alpha 2-related dystrophy PMID:28492532 10052390 CV194744 NM_000540.3(RYR1):c.7615-5C>T variant DOID:8545 malignant hyperthermia IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Malignant hyperpyrexia PMID:25741868|PMID:28492532 10052390 CV194744 NM_000540.3(RYR1):c.7615-5C>T variant DOID:9005320 Malignant Fever IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Pharmacogenic myopathy PMID:25741868|PMID:28492532 10052392 CV194747 NM_003482.4(KMT2D):c.15535C>T (p.Arg5179Cys) variant DOID:0060473 Kabuki syndrome IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Kabuki syndrome PMID:20711175|PMID:23913813|PMID:25281733|PMID:25755104|PMID:27302555|PMID:28492532|PMID:29536651 10052392 CV194747 NM_003482.4(KMT2D):c.15535C>T (p.Arg5179Cys) variant DOID:630 genetic disease IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20711175|PMID:23913813|PMID:25281733|PMID:25755104|PMID:27302555|PMID:28492532|PMID:29536651 10052393 CV194750 NM_003482.4(KMT2D):c.15230T>C (p.Leu5077Pro) variant DOID:0060473 Kabuki syndrome IAGP D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Kabuki syndrome PMID:28492532 10052394 CV194753 NM_001130987.2(DYSF):c.5481C>A (p.Asp1827Glu) variant DOID:9004518 Dysferlinopathy IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dysferlinopathy PMID:28492532 10052397 CV194759 NM_025114.4(CEP290):c.6523-6T>C variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 10052397 CV194759 NM_025114.4(CEP290):c.6523-6T>C variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10052398 CV194760 NM_032119.4(ADGRV1):c.10126A>G (p.Ile3376Val) variant DOID:0111305 familial febrile seizures 4 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: ADGRV1-related disorder PMID:24033266|PMID:28492532 10052398 CV194760 NM_032119.4(ADGRV1):c.10126A>G (p.Ile3376Val) variant DOID:630 genetic disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:28492532 10052400 CV194763 NM_138694.4(PKHD1):c.7675G>C (p.Val2559Leu) variant DOID:0050770 polycystic liver disease IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver PMID:15805161|PMID:25701400|PMID:25741868|PMID:28492532 10052400 CV194763 NM_138694.4(PKHD1):c.7675G>C (p.Val2559Leu) variant DOID:0080212 polycystic kidney disease 4 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease 4 PMID:15805161|PMID:25701400|PMID:25741868|PMID:28492532 10052400 CV194763 NM_138694.4(PKHD1):c.7675G>C (p.Val2559Leu) variant DOID:0110860 polycystic kidney disease 3 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: PKD3 PMID:15805161|PMID:25701400|PMID:25741868|PMID:28492532 10052400 CV194763 NM_138694.4(PKHD1):c.7675G>C (p.Val2559Leu) variant DOID:0110861 autosomal recessive polycystic kidney disease IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE, INFANTILE, TYPE I PMID:15805161|PMID:25701400|PMID:25741868|PMID:28492532 10052400 CV194763 NM_138694.4(PKHD1):c.7675G>C (p.Val2559Leu) variant DOID:630 genetic disease IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15805161|PMID:25701400|PMID:25741868|PMID:28492532 10052400 CV194763 NM_138694.4(PKHD1):c.7675G>C (p.Val2559Leu) variant DOID:898 autosomal dominant polycystic kidney disease IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1 PMID:15805161|PMID:25701400|PMID:25741868|PMID:28492532 10052401 CV194764 NM_182914.3(SYNE2):c.9230C>T (p.Pro3077Leu) variant DOID:0070250 autosomal dominant Emery-Dreifuss muscular dystrophy 5 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: SYNE2-related condition PMID:26467025|PMID:28492532 10052402 CV194765 NM_182914.3(SYNE2):c.9284A>G (p.Lys3095Arg) variant DOID:0070250 autosomal dominant Emery-Dreifuss muscular dystrophy 5 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 5, autosomal dominant PMID:25741868|PMID:28492532 10052403 CV194766 NM_182914.3(SYNE2):c.7976G>A (p.Arg2659Gln) variant DOID:0070250 autosomal dominant Emery-Dreifuss muscular dystrophy 5 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 5, autosomal dominant PMID:25741868|PMID:26467025|PMID:28492532 10052404 CV194767 NM_182914.3(SYNE2):c.8911C>G (p.Gln2971Glu) variant DOID:0070250 autosomal dominant Emery-Dreifuss muscular dystrophy 5 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 5, autosomal dominant PMID:25741868|PMID:28492532 10052405 CV194768 NM_206933.4(USH2A):c.9401G>A (p.Arg3134Gln) variant DOID:0110838 Usher syndrome type 2A IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: USH2A-related disorder PMID:24033266|PMID:24853665|PMID:28492532 10052406 CV194769 NM_000138.5(FBN1):c.5964C>T (p.Thr1988=) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10052406 CV194769 NM_000138.5(FBN1):c.5964C>T (p.Thr1988=) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868|PMID:28492532 10052406 CV194769 NM_000138.5(FBN1):c.5964C>T (p.Thr1988=) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:25741868|PMID:28492532 10052407 CV194770 NM_000540.3(RYR1):c.7923C>G (p.Leu2641=) variant DOID:0080991 congenital myopathy 1B IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Multiminicore disease with external ophthalmoplegia PMID:20681998|PMID:25741868|PMID:26467025|PMID:28492532 10052407 CV194770 NM_000540.3(RYR1):c.7923C>G (p.Leu2641=) variant DOID:3529 congenital myopathy 1A IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Shy-Magee syndrome PMID:20681998|PMID:25741868|PMID:26467025|PMID:28492532 10052407 CV194770 NM_000540.3(RYR1):c.7923C>G (p.Leu2641=) variant DOID:8545 malignant hyperthermia IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Malignant hyperpyrexia PMID:20681998|PMID:25741868|PMID:26467025|PMID:28492532 10052407 CV194770 NM_000540.3(RYR1):c.7923C>G (p.Leu2641=) variant DOID:9005001 Congenital Neuromuscular Disease, with Uniform Type 1 Fiber IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Neuromuscular disease, congenital, with uniform type 1 fiber PMID:20681998|PMID:25741868|PMID:26467025|PMID:28492532 10052407 CV194770 NM_000540.3(RYR1):c.7923C>G (p.Leu2641=) variant DOID:9005320 Malignant Fever IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Pharmacogenic myopathy PMID:20681998|PMID:25741868|PMID:26467025|PMID:28492532 10052408 CV194771 NM_004006.3(DMD):c.7179A>T (p.Lys2393Asn) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:28492532 10052408 CV194771 NM_004006.3(DMD):c.7179A>T (p.Lys2393Asn) variant DOID:11723 Duchenne muscular dystrophy IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:28492532 10052408 CV194771 NM_004006.3(DMD):c.7179A>T (p.Lys2393Asn) variant DOID:9883 Becker muscular dystrophy IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Becker muscular dystrophy PMID:28492532 10052410 CV194773 NM_032119.4(ADGRV1):c.10342G>A (p.Val3448Met) variant DOID:0110827 Usher syndrome type 2 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2 PMID:25741868|PMID:28492532 10052411 CV194774 NM_182914.3(SYNE2):c.9943G>A (p.Glu3315Lys) variant DOID:0070250 autosomal dominant Emery-Dreifuss muscular dystrophy 5 IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 5, autosomal dominant PMID:28492532 10052412 CV194775 NM_182914.3(SYNE2):c.9830C>G (p.Ala3277Gly) variant DOID:0070250 autosomal dominant Emery-Dreifuss muscular dystrophy 5 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 5, autosomal dominant PMID:28492532 10052413 CV194776 NM_000016.6(ACADM):c.320T>C (p.Leu107Ser) variant DOID:0080153 medium chain acyl-CoA dehydrogenase deficiency IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Medium-chain acyl-coenzyme A dehydrogenase deficiency PMID:15171998|PMID:18450854|PMID:20036593|PMID:20434380|PMID:25741868|PMID:28492532 10052414 CV194778 NM_000018.4(ACADVL):c.294G>C (p.Gln98His) variant DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:28492532 10052415 CV194779 NM_000023.4(SGCA):c.421C>A (p.Arg141Ser) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:12746421|PMID:18285821|PMID:25741868|PMID:25802880|PMID:26467025|PMID:28492532|PMID:31931849|PMID:34426522 10052415 CV194779 NM_000023.4(SGCA):c.421C>A (p.Arg141Ser) variant DOID:0110278 autosomal recessive limb-girdle muscular dystrophy type 2D IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Sarcoglycanopathy PMID:12746421|PMID:18285821|PMID:25741868|PMID:25802880|PMID:26467025|PMID:28492532|PMID:31931849|PMID:34426522 10052416 CV194780 NM_000026.4(ADSL):c.649C>G (p.His217Asp) variant DOID:0050762 adenylosuccinase lyase deficiency IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:26467025|PMID:28492532 10052418 CV194784 NM_000053.4(ATP7B):c.1840G>T (p.Gly614Cys) variant DOID:893 Wilson disease IAGP D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Wilson disease PMID:23518715|PMID:25741868|PMID:28492532 10052419 CV194787 NM_001379270.1(CNGA1):c.179G>T (p.Gly60Val) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:25741868|PMID:28492532 10052419 CV194787 NM_001379270.1(CNGA1):c.179G>T (p.Gly60Val) variant DOID:630 genetic disease IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10052420 CV194793 NM_000144.5(FXN):c.626A>G (p.Asp209Gly) variant DOID:630 genetic disease IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19852779|PMID:25741868|PMID:26467025 10052422 CV194798 NM_000169.3(GLA):c.704C>G (p.Ser235Cys) variant DOID:14499 Fabry disease IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Fabry disease PMID:10666480|PMID:15924232|PMID:19387866|PMID:20139917|PMID:20629180|PMID:21138548|PMID:21598360|PMID:22241068|PMID:24386359|PMID:25382311|PMID:33915609 10052423 CV194799 NM_000169.3(GLA):c.661C>T (p.Gln221Ter) variant DOID:14499 Fabry disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Angiokeratoma corporis diffusum PMID:10666480|PMID:12175777|PMID:17656478|PMID:25741868|PMID:28492532 10052424 CV194800 NM_000169.3(GLA):c.801+3A>G variant DOID:14499 Fabry disease IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Angiokeratoma corporis diffusum PMID:15712228|PMID:15806320|PMID:16595074|PMID:25741868 10052425 CV194801 NM_000169.3(GLA):c.695T>G (p.Ile232Ser) variant DOID:14499 Fabry disease IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Angiokeratoma corporis diffusum PMID:25741868 10052427 CV194807 NM_000231.3(SGCG):c.407A>G (p.Gln136Arg) variant DOID:0110277 autosomal recessive limb-girdle muscular dystrophy type 2C IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2C PMID:25741868|PMID:28492532 10052428 CV194808 NM_000231.3(SGCG):c.438C>T (p.Asp146=) variant DOID:0110277 autosomal recessive limb-girdle muscular dystrophy type 2C IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Severe autosomal recessive muscular dystrophy of childhood - North African type PMID:28492532 10052429 CV194809 NM_001386140.1(MTTP):c.419A>G (p.Asn140Ser) variant DOID:0111062 familial hypobetalipoproteinemia 1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Apolipoprotein B deficiency PMID:28492532 10052429 CV194809 NM_001386140.1(MTTP):c.419A>G (p.Asn140Ser) variant DOID:1386 abetalipoproteinemia IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: MTTP-related condition PMID:28492532 10052429 CV194809 NM_001386140.1(MTTP):c.419A>G (p.Asn140Ser) variant DOID:9006098 Abetalipoproteinemia Neuropathy IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Abetalipoproteinemia neuropathy PMID:28492532 10052431 CV194814 NM_001128178.3(NPHP1):c.330-4G>A variant DOID:0050576 Senior-Loken syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: JUVENILE NEPHRONOPHTHISIS WITH LEBER AMAUROSIS PMID:25741868|PMID:28492532 10052431 CV194814 NM_001128178.3(NPHP1):c.330-4G>A variant DOID:0110999 Joubert syndrome 4 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: JOUBERT SYNDROME 4 PMID:25741868|PMID:28492532 10052431 CV194814 NM_001128178.3(NPHP1):c.330-4G>A variant DOID:0111112 nephronophthisis 1 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Nephronophthisis familial juvenile PMID:25741868|PMID:28492532 10052431 CV194814 NM_001128178.3(NPHP1):c.330-4G>A variant DOID:12712 nephronophthisis IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:25741868|PMID:28492532 10052431 CV194814 NM_001128178.3(NPHP1):c.330-4G>A variant DOID:9004365 Senior-Loken Syndrome 1 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 1 PMID:25741868|PMID:28492532 10052432 CV194815 NM_000283.4(PDE6B):c.905G>A (p.Gly302Asp) variant DOID:0110863 congenital stationary night blindness autosomal dominant 2 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness, autosomal dominant 2 PMID:28492532 10052432 CV194815 NM_000283.4(PDE6B):c.905G>A (p.Gly302Asp) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive PMID:28492532 10052434 CV194817 NM_000287.4(PEX6):c.1313T>C (p.Leu438Pro) variant DOID:0050444 infantile Refsum disease IAGP D RGD:8554872 20221004 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:28492532 10052436 CV194819 NM_000303.3(PMM2):c.430T>C (p.Phe144Leu) variant DOID:0080552 congenital disorder of glycosylation Ia IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: PMM2-congenital disorder of glycosylation PMID:10066032|PMID:10392743|PMID:21228398|PMID:25741868|PMID:26206375|PMID:26805780|PMID:28122681|PMID:28492532|PMID:30687093|PMID:32635232|PMID:33176815 10052438 CV194823 NM_000314.8(PTEN):c.424C>T (p.Arg142Trp) variant DOID:0050657 Cowden syndrome 1 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Cowden syndrome 1 PMID:16506206|PMID:17873882|PMID:19340001|PMID:19458356|PMID:22491738|PMID:25669429|PMID:25741868|PMID:26534844|PMID:26773036|PMID:28492532|PMID:29706350|PMID:29785012|PMID:30311380|PMID:34793697|PMID:35982159|PMID:36270489|PMID:38335860|PMID:38645101 10052438 CV194823 NM_000314.8(PTEN):c.424C>T (p.Arg142Trp) variant DOID:12849 autistic disorder IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Autistic behavior PMID:16506206|PMID:17873882|PMID:19340001|PMID:19458356|PMID:22491738|PMID:25669429|PMID:25741868|PMID:26534844|PMID:26773036|PMID:28492532|PMID:29706350|PMID:29785012|PMID:30311380|PMID:34793697|PMID:35982159|PMID:36270489|PMID:38335860|PMID:38645101 10052438 CV194823 NM_000314.8(PTEN):c.424C>T (p.Arg142Trp) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:16506206|PMID:17873882|PMID:19340001|PMID:19458356|PMID:22491738|PMID:25669429|PMID:25741868|PMID:26534844|PMID:26773036|PMID:28492532|PMID:29706350|PMID:29785012|PMID:30311380|PMID:34793697|PMID:35982159|PMID:36270489|PMID:38335860|PMID:38645101 10052440 CV194825 NM_000391.4(TPP1):c.381-10dup variant DOID:0110726 neuronal ceroid lipofuscinosis 2 IAGP D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Ceroid lipofuscinosis neuronal 2 PMID:25741868|PMID:26467025|PMID:28492532 10052440 CV194825 NM_000391.4(TPP1):c.381-10dup variant DOID:14503 neuronal ceroid lipofuscinosis IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:25741868|PMID:26467025|PMID:28492532 10052440 CV194825 NM_000391.4(TPP1):c.381-10dup variant DOID:891 progressive myoclonus epilepsy IAGP D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive PMID:25741868|PMID:26467025|PMID:28492532 10052441 CV194827 NM_000417.3(IL2RA):c.617G>A (p.Arg206His) variant DOID:0111968 immunodeficiency 41 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Interleukin 2 receptor, alpha, deficiency of PMID:28492532 10052443 CV194832 NM_000460.4(THPO):c.356G>A (p.Arg119His) variant DOID:2224 essential thrombocythemia IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thrombocythemia 1 PMID:28492532 10052443 CV194832 NM_000460.4(THPO):c.356G>A (p.Arg119His) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10052444 CV194833 NM_000463.3(UGT1A1):c.1352C>T (p.Pro451Leu) variant DOID:2739 Gilbert syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, GILBERT TYPE PMID:19325249|PMID:25200497|PMID:25741868|PMID:26727668|PMID:28492532 10052444 CV194833 NM_000463.3(UGT1A1):c.1352C>T (p.Pro451Leu) variant DOID:9000599 Hyperbilirubinemia, Transient Familial Neonatal IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Transient familial neonatal hyperbilirubinemia PMID:19325249|PMID:25200497|PMID:25741868|PMID:26727668|PMID:28492532 10052444 CV194833 NM_000463.3(UGT1A1):c.1352C>T (p.Pro451Leu) variant DOID:9001862 Crigler Najjar Syndrome, Type 2 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Crigler Najjar syndrome, type 2 PMID:19325249|PMID:25200497|PMID:25741868|PMID:26727668|PMID:28492532 10052444 CV194833 NM_000463.3(UGT1A1):c.1352C>T (p.Pro451Leu) variant DOID:9009271 Crigler Najjar Syndrome, Type 1 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE I PMID:19325249|PMID:25200497|PMID:25741868|PMID:26727668|PMID:28492532 10052445 CV194834 NM_000466.3(PEX1):c.665C>T (p.Thr222Ile) variant DOID:0050444 infantile Refsum disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Infantile form of phytanic acid storage disease PMID:25741868|PMID:28492532 10052445 CV194834 NM_000466.3(PEX1):c.665C>T (p.Thr222Ile) variant DOID:0080476 peroxisome biogenesis disorder 1A IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1a PMID:25741868|PMID:28492532 10052445 CV194834 NM_000466.3(PEX1):c.665C>T (p.Thr222Ile) variant DOID:0080623 Heimler syndrome 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 1C PMID:25741868|PMID:28492532 10052445 CV194834 NM_000466.3(PEX1):c.665C>T (p.Thr222Ile) variant DOID:0081240 peroxisome biogenesis disorder 1B IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1B PMID:25741868|PMID:28492532 10052445 CV194834 NM_000466.3(PEX1):c.665C>T (p.Thr222Ile) variant DOID:9006420 Zellweger Leukodystrophy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Zellweger leukodystrophy PMID:25741868|PMID:28492532 10052445 CV194834 NM_000466.3(PEX1):c.665C>T (p.Thr222Ile) variant DOID:905 Zellweger syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Zellweger Spectrum PMID:25741868|PMID:28492532 10052446 CV194836 NM_000466.3(PEX1):c.645C>G (p.Thr215=) variant DOID:905 Zellweger syndrome IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Zellweger syndrome PMID:28492532 10052447 CV194837 NM_000478.6(ALPL):c.398C>G (p.Ala133Gly) variant DOID:14213 hypophosphatasia IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Hypophosphatasia PMID:28492532 10052448 CV194838 NM_000478.6(ALPL):c.436G>A (p.Glu146Lys) variant DOID:0110913 adult hypophosphatasia IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Adult hypophosphatasia PMID:21956185|PMID:25741868|PMID:26432670|PMID:26432671|PMID:28127875|PMID:28401263|PMID:28492532|PMID:31793067|PMID:32160374|PMID:33191482|PMID:34633109|PMID:36361766|PMID:38702915|PMID:38884565 10052448 CV194838 NM_000478.6(ALPL):c.436G>A (p.Glu146Lys) variant DOID:14213 hypophosphatasia IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Hypophosphatasia PMID:21956185|PMID:25741868|PMID:26432670|PMID:26432671|PMID:28127875|PMID:28401263|PMID:28492532|PMID:31793067|PMID:32160374|PMID:33191482|PMID:34633109|PMID:36361766|PMID:38702915|PMID:38884565 10052448 CV194838 NM_000478.6(ALPL):c.436G>A (p.Glu146Lys) variant DOID:630 genetic disease IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21956185|PMID:25741868|PMID:26432670|PMID:26432671|PMID:28127875|PMID:28401263|PMID:28492532|PMID:31793067|PMID:32160374|PMID:33191482|PMID:34633109|PMID:36361766|PMID:38702915|PMID:38884565 10052449 CV194841 NM_000487.6(ARSA):c.901C>G (p.Arg301Gly) variant DOID:10581 metachromatic leukodystrophy IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:12809637|PMID:26462614|PMID:28492532|PMID:30674982|PMID:37480112 10052450 CV194842 NM_000516.7(GNAS):c.393C>T (p.Ile131=) variant DOID:0051013 pseudohypoparathyroidism type 1C IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: PHP IC PMID:24033266|PMID:25741868|PMID:28492532 10052450 CV194842 NM_000516.7(GNAS):c.393C>T (p.Ile131=) variant DOID:0080053 pseudohypoparathyroidism type 1A IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Pseudohypoparathyroidism Type IA PMID:24033266|PMID:25741868|PMID:28492532 10052450 CV194842 NM_000516.7(GNAS):c.393C>T (p.Ile131=) variant DOID:0080222 pseudohypoparathyroidism type 1B IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Pseudohypoparathyroidism Type IB PMID:24033266|PMID:25741868|PMID:28492532 10052450 CV194842 NM_000516.7(GNAS):c.393C>T (p.Ile131=) variant DOID:0111535 progressive osseous heteroplasia IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: ECTOPIC OSSIFICATION, FAMILIAL PMID:24033266|PMID:25741868|PMID:28492532 10052450 CV194842 NM_000516.7(GNAS):c.393C>T (p.Ile131=) variant DOID:4183 pseudopseudohypoparathyroidism IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Pseudopseudohypoparathyroidism PMID:24033266|PMID:25741868|PMID:28492532 10052451 CV194843 NM_000520.6(HEXA):c.536A>G (p.His179Arg) variant DOID:3320 Tay-Sachs disease IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Tay-Sachs disease PMID:22789865|PMID:28492532 10052452 CV194846 NM_000543.5(SMPD1):c.1378A>C (p.Thr460Pro) variant DOID:0070112 Niemann-Pick disease type B IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type B PMID:24643943|PMID:28492532 10052453 CV194849 NM_000719.7(CACNA1C):c.666C>T (p.Asn222=) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10052454 CV194850 NM_000742.4(CHRNA2):c.383G>A (p.Gly128Asp) variant DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25741868|PMID:26467025|PMID:28492532 10052454 CV194850 NM_000742.4(CHRNA2):c.383G>A (p.Gly128Asp) variant DOID:0060685 autosomal dominant nocturnal frontal lobe epilepsy 4 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 4 PMID:25741868|PMID:26467025|PMID:28492532 10052454 CV194850 NM_000742.4(CHRNA2):c.383G>A (p.Gly128Asp) variant DOID:630 genetic disease IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 10052455 CV194851 NM_000744.7(CHRNA4):c.1454G>A (p.Arg485Gln) variant DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 10052455 CV194851 NM_000744.7(CHRNA4):c.1454G>A (p.Arg485Gln) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10052456 CV194852 NM_000744.7(CHRNA4):c.868C>T (p.Leu290=) variant DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 10052457 CV194853 NM_000744.7(CHRNA4):c.1441G>A (p.Gly481Ser) variant DOID:0050742 nicotine dependence IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: CHRNA4-related condition PMID:28492532 10052457 CV194853 NM_000744.7(CHRNA4):c.1441G>A (p.Gly481Ser) variant DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 10052457 CV194853 NM_000744.7(CHRNA4):c.1441G>A (p.Gly481Ser) variant DOID:630 genetic disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10052458 CV194854 NM_000744.7(CHRNA4):c.412C>T (p.Leu138=) variant DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 10052460 CV194856 NM_000748.3(CHRNB2):c.1046T>C (p.Met349Thr) variant DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy IAGP D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:25741868|PMID:28492532 10052460 CV194856 NM_000748.3(CHRNB2):c.1046T>C (p.Met349Thr) variant DOID:0060684 autosomal dominant nocturnal frontal lobe epilepsy 3 IAGP D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, type 3 PMID:25741868|PMID:28492532 10052460 CV194856 NM_000748.3(CHRNB2):c.1046T>C (p.Met349Thr) variant DOID:1059 intellectual disability IAGP D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 10052460 CV194856 NM_000748.3(CHRNB2):c.1046T>C (p.Met349Thr) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10052461 CV194857 NM_000784.4(CYP27A1):c.891G>T (p.Leu297=) variant DOID:4810 cerebrotendinous xanthomatosis IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Cholestanol storage disease PMID:28492532 10052462 CV194858 NM_198904.4(GABRG2):c.582G>A (p.Leu194=) variant DOID:9009061 Childhood Absence Epilepsy 2 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Epilepsy, childhood absence 2 PMID:28492532 10052463 CV194859 NM_001004311.3(FIGLA):c.*5T>A variant DOID:0080863 primary ovarian insufficiency 6 IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 6 PMID:25741868 10052464 CV194860 NM_001004311.3(FIGLA):c.*7A>G variant DOID:0080863 primary ovarian insufficiency 6 IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Premature ovarian failure 6 PMID:25741868 10052466 CV194863 NM_000157.4(GBA1):c.437C>T (p.Ser146Leu) variant DOID:0110957 Gaucher's disease type I IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Gaucher disease type I PMID:15329082|PMID:22247978|PMID:25741868|PMID:27816428|PMID:27836528|PMID:27872820|PMID:30949558|PMID:9516376|PMID:9554454 10052466 CV194863 NM_000157.4(GBA1):c.437C>T (p.Ser146Leu) variant DOID:1926 Gaucher's disease IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Gaucher disease PMID:15329082|PMID:22247978|PMID:25741868|PMID:27816428|PMID:27836528|PMID:27872820|PMID:30949558|PMID:9516376|PMID:9554454 10052468 CV194866 NM_001018113.3(FANCB):c.1140T>A (p.Phe380Leu) variant DOID:0111098 Fanconi anemia complementation group B IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Fanconi anemia, complementation group B PMID:28492532 10052468 CV194866 NM_001018113.3(FANCB):c.1140T>A (p.Phe380Leu) variant DOID:0111766 X-linked VACTERL association IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: VACTERL association with hydrocephaly, X-linked PMID:28492532 10052468 CV194866 NM_001018113.3(FANCB):c.1140T>A (p.Phe380Leu) variant DOID:13636 Fanconi anemia IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:28492532 10052468 CV194866 NM_001018113.3(FANCB):c.1140T>A (p.Phe380Leu) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10052469 CV194867 NM_001023570.4(IQCB1):c.322C>T (p.Leu108Phe) variant DOID:12712 nephronophthisis IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:25741868|PMID:28492532 10052469 CV194867 NM_001023570.4(IQCB1):c.322C>T (p.Leu108Phe) variant DOID:9004221 Senior-Loken Syndrome 5 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 5 PMID:25741868|PMID:28492532 10052471 CV194870 NM_001039348.3(EFEMP1):c.418C>T (p.Arg140Trp) variant DOID:0060745 Doyne honeycomb retinal dystrophy IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Doyne honeycomb retinal dystrophy PMID:25741868|PMID:26162006|PMID:28492532|PMID:34923728 10052471 CV194870 NM_001039348.3(EFEMP1):c.418C>T (p.Arg140Trp) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:26162006|PMID:28492532|PMID:34923728 10052471 CV194870 NM_001039348.3(EFEMP1):c.418C>T (p.Arg140Trp) variant DOID:9003598 Glaucoma 1, Open Angle, H IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Glaucoma 1, open angle, H PMID:25741868|PMID:26162006|PMID:28492532|PMID:34923728 10052472 CV194871 NM_001042432.2(CLN3):c.270T>G (p.Phe90Leu) variant DOID:0110731 neuronal ceroid lipofuscinosis 3 IAGP D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Juvenile neuronal ceroid lipofuscinosis PMID:25741868|PMID:28492532 10052472 CV194871 NM_001042432.2(CLN3):c.270T>G (p.Phe90Leu) variant DOID:14503 neuronal ceroid lipofuscinosis IAGP D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:25741868|PMID:28492532 10052472 CV194871 NM_001042432.2(CLN3):c.270T>G (p.Phe90Leu) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10052472 CV194871 NM_001042432.2(CLN3):c.270T>G (p.Phe90Leu) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532 10052473 CV194872 NM_001042432.2(CLN3):c.250C>A (p.His84Asn) variant DOID:0110731 neuronal ceroid lipofuscinosis 3 IAGP D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 3 PMID:25741868|PMID:28492532 10052473 CV194872 NM_001042432.2(CLN3):c.250C>A (p.His84Asn) variant DOID:14503 neuronal ceroid lipofuscinosis IAGP D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:25741868|PMID:28492532 10052473 CV194872 NM_001042432.2(CLN3):c.250C>A (p.His84Asn) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10052476 CV194876 NM_001378615.1(CC2D2A):c.165C>G (p.Ser55=) variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 10052476 CV194876 NM_001378615.1(CC2D2A):c.165C>G (p.Ser55=) variant DOID:630 genetic disease IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10052477 CV194877 NM_001100.4(ACTA1):c.685A>G (p.Met229Val) variant DOID:9007077 Actin-Accumulation Myopathy IAGP D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Actin accumulation myopathy 10052478 CV194879 NM_001111125.3(IQSEC2):c.1926G>A (p.Pro642=) variant DOID:0112038 non-syndromic X-linked intellectual disability 1 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Mental retardation, X-linked 1 PMID:28492532 10052478 CV194879 NM_001111125.3(IQSEC2):c.1926G>A (p.Pro642=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10052478 CV194879 NM_001111125.3(IQSEC2):c.1926G>A (p.Pro642=) variant DOID:9004603 Atkin Syndrome IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mental retardation, X-linked, nonspecific PMID:28492532 10052479 CV194880 NM_001111125.3(IQSEC2):c.1711G>A (p.Gly571Ser) variant DOID:0112038 non-syndromic X-linked intellectual disability 1 IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Mental retardation, X-linked 1 PMID:28492532 10052479 CV194880 NM_001111125.3(IQSEC2):c.1711G>A (p.Gly571Ser) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10052479 CV194880 NM_001111125.3(IQSEC2):c.1711G>A (p.Gly571Ser) variant DOID:9004603 Atkin Syndrome IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Mental retardation X-linked, Atkin type PMID:28492532 10052481 CV194882 NM_001182.5(ALDH7A1):c.494G>C (p.Gly165Ala) variant DOID:0080768 pyridoxine-dependent epilepsy IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Pyridoxine-dependent epilepsy PMID:25741868|PMID:28492532 10052482 CV194884 NM_001235.5(SERPINH1):c.1051G>A (p.Val351Met) variant DOID:630 genetic disease IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10052484 CV194886 NM_001360.3(DHCR7):c.376G>A (p.Val126Ile) variant DOID:14692 Smith-Lemli-Opitz syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Smith-Lemli-Opitz syndrome PMID:24813812|PMID:25741868|PMID:28250423|PMID:28492532|PMID:28600779|PMID:31130284|PMID:34168679|PMID:37644014 10052484 CV194886 NM_001360.3(DHCR7):c.376G>A (p.Val126Ile) variant DOID:630 genetic disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24813812|PMID:25741868|PMID:28250423|PMID:28492532|PMID:28600779|PMID:31130284|PMID:34168679|PMID:37644014 10052485 CV194887 NM_001360.3(DHCR7):c.399C>T (p.Ala133=) variant DOID:14692 Smith-Lemli-Opitz syndrome IAGP D RGD:8554872 20200410 ClinVar ClinVar Annotator: match by term: Smith-Lemli-Opitz syndrome PMID:25741868|PMID:28492532 10052485 CV194887 NM_001360.3(DHCR7):c.399C>T (p.Ala133=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10052486 CV194888 NM_001110556.2(FLNA):c.733G>A (p.Glu245Lys) variant DOID:0050454 periventricular nodular heterotopia IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:16835913|PMID:25741868|PMID:28492532|PMID:30089473 10052486 CV194888 NM_001110556.2(FLNA):c.733G>A (p.Glu245Lys) variant DOID:0111786 frontometaphyseal dysplasia 1 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Frontometaphyseal dysplasia 1 PMID:16835913|PMID:25741868|PMID:28492532|PMID:30089473 10052487 CV194889 NM_001110556.2(FLNA):c.732C>T (p.Pro244=) variant DOID:0050454 periventricular nodular heterotopia IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Periventricular nodular heterotopia 1 PMID:28492532 10052487 CV194889 NM_001110556.2(FLNA):c.732C>T (p.Pro244=) variant DOID:0111784 otopalatodigital syndrome type 2 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II PMID:28492532 10052487 CV194889 NM_001110556.2(FLNA):c.732C>T (p.Pro244=) variant DOID:0111785 frontometaphyseal dysplasia IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Frontometaphyseal dysplasia PMID:28492532 10052487 CV194889 NM_001110556.2(FLNA):c.732C>T (p.Pro244=) variant DOID:0111788 Melnick-Needles syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles PMID:28492532 10052487 CV194889 NM_001110556.2(FLNA):c.732C>T (p.Pro244=) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:28492532 10052487 CV194889 NM_001110556.2(FLNA):c.732C>T (p.Pro244=) variant DOID:9005082 Periventricular Nodular Heterotopia 4 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant PMID:28492532 10052488 CV194890 NM_001605.3(AARS1):c.600C>T (p.Ala200=) variant DOID:0050539 Charcot-Marie-Tooth disease type 2 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 PMID:28492532 10052488 CV194890 NM_001605.3(AARS1):c.600C>T (p.Ala200=) variant DOID:0110177 Charcot-Marie-Tooth disease axonal type 2N IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2N PMID:28492532 10052488 CV194890 NM_001605.3(AARS1):c.600C>T (p.Ala200=) variant DOID:630 genetic disease IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10052489 CV194891 NM_001848.3(COL6A1):c.717C>T (p.Ile239=) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:28492532 10052490 CV194892 NM_001848.3(COL6A1):c.595C>T (p.Arg199Cys) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:25741868|PMID:28492532 10052490 CV194892 NM_001848.3(COL6A1):c.595C>T (p.Arg199Cys) variant DOID:630 genetic disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10052491 CV194894 NM_001851.6(COL9A1):c.635T>C (p.Ile212Thr) variant DOID:630 genetic disease IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10052493 CV194899 NM_002025.4(AFF2):c.1121C>A (p.Ser374Tyr) variant DOID:0080984 X-linked intellectual developmental disorder 109 IAGP D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: AFF2-related condition PMID:25741868|PMID:28492532 10052494 CV194902 NM_002397.5(MEF2C):c.489A>G (p.Ser163=) variant DOID:0070050 neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations PMID:28492532 10052495 CV194903 NM_001252024.2(TRPM1):c.507C>T (p.His169=) variant DOID:0110867 congenital stationary night blindness 1C IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness, type 1C PMID:28492532 10052496 CV194905 NM_002435.3(MPI):c.576C>T (p.Ser192=) variant DOID:0080554 congenital disorder of glycosylation Ib IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Saguenay Lac Saint Jean syndrome PMID:28492532 10052498 CV194908 NM_002880.4(RAF1):c.438C>A (p.Phe146Leu) variant DOID:0060583 Noonan syndrome 5 IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Noonan syndrome 5 PMID:25741868|PMID:28492532 10052498 CV194908 NM_002880.4(RAF1):c.438C>A (p.Phe146Leu) variant DOID:0080549 Noonan syndrome with multiple lentigines 2 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: LEOPARD syndrome 2 PMID:25741868|PMID:28492532 10052498 CV194908 NM_002880.4(RAF1):c.438C>A (p.Phe146Leu) variant DOID:0080690 RASopathy IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: RASopathy PMID:25741868|PMID:28492532 10052498 CV194908 NM_002880.4(RAF1):c.438C>A (p.Phe146Leu) variant DOID:0110432 dilated cardiomyopathy 1NN IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1NN PMID:25741868|PMID:28492532 10052499 CV194909 NM_003073.5(SMARCB1):c.512A>G (p.His171Arg) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:28492532 10052500 CV194910 NM_003073.5(SMARCB1):c.585C>T (p.Ile195=) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:28492532 10052502 CV194913 NM_003322.6(TULP1):c.371_394del (p.Asp124_Glu131del) variant DOID:0110189 Leber congenital amaurosis 15 IAGP D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: TULP1-related condition PMID:28492532 10052503 CV194915 NM_003630.3(PEX3):c.456+3A>G variant DOID:0080484 peroxisome biogenesis disorder 10A IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: PEX3-related condition PMID:17576681|PMID:28492532|PMID:9536098 10052506 CV194918 NM_003896.4(ST3GAL5):c.738G>C (p.Glu246Asp) variant DOID:0060470 salt and pepper syndrome IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Salt and pepper developmental regression syndrome PMID:28492532 10052507 CV194921 NM_004260.4(RECQL4):c.543G>A (p.Gln181=) variant DOID:0050654 Baller-Gerold syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Baller-Gerold syndrome PMID:25741868|PMID:28492532 10052507 CV194921 NM_004260.4(RECQL4):c.543G>A (p.Gln181=) variant DOID:0050774 rapadilino syndrome IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Rapadilino syndrome PMID:25741868|PMID:28492532 10052507 CV194921 NM_004260.4(RECQL4):c.543G>A (p.Gln181=) variant DOID:630 genetic disease IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10052507 CV194921 NM_004260.4(RECQL4):c.543G>A (p.Gln181=) variant DOID:9005992 Rothmund-Thomson Syndrome Type 2 IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Rothmund-Thomson syndrome type 2 PMID:25741868|PMID:28492532 10052507 CV194921 NM_004260.4(RECQL4):c.543G>A (p.Gln181=) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532 10052508 CV194923 NM_004369.4(COL6A3):c.1761C>T (p.Ala587=) variant DOID:0050663 Bethlem myopathy IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Collagen VI-related myopathy PMID:25741868|PMID:28492532 10052508 CV194923 NM_004369.4(COL6A3):c.1761C>T (p.Ala587=) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:25741868|PMID:28492532 10052509 CV194924 NM_004380.3(CREBBP):c.1275T>C (p.His425=) variant DOID:1933 Rubinstein-Taybi syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:28492532 10052509 CV194924 NM_004380.3(CREBBP):c.1275T>C (p.His425=) variant DOID:630 genetic disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10052511 CV194927 NM_004698.4(PRPF3):c.501A>G (p.Thr167=) variant DOID:0110356 retinitis pigmentosa 18 IAGP D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: PRPF3-related condition PMID:28492532 10052511 CV194927 NM_004698.4(PRPF3):c.501A>G (p.Thr167=) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532 10052513 CV194929 NM_004817.4(TJP2):c.577C>T (p.Arg193Trp) variant DOID:0070224 progressive familial intrahepatic cholestasis 4 IAGP D RGD:8554872 20250902 ClinVar ClinVar Annotator: match by term: TJP2-related condition PMID:28492532 10052514 CV194930 NM_004985.5(KRAS):c.470A>G (p.Tyr157Cys) variant DOID:0080690 RASopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: RASopathy PMID:24033266|PMID:28492532 10052515 CV194931 NM_005120.3(MED12):c.653C>T (p.Thr218Met) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:28492532 10052515 CV194931 NM_005120.3(MED12):c.653C>T (p.Thr218Met) variant DOID:14711 FG syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Keller syndrome PMID:28492532 10052519 CV194936 NM_005334.3(HCFC1):c.713-13C>T variant DOID:0111814 methylmalonic acidemia and homocysteinemia cblX type IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Mental retardation 3, X-linked PMID:25741868|PMID:28492532 10052520 CV194938 NM_005609.4(PYGM):c.660G>A (p.Gln220=) variant DOID:2746 glycogen storage disease V IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Myophosphorylase deficiency PMID:25741868|PMID:25987006|PMID:28492532|PMID:28967462|PMID:29881221|PMID:34906502|PMID:35628876|PMID:38374194 10052521 CV194939 NM_005633.4(SOS1):c.698A>G (p.Asn233Ser) variant DOID:0060582 Noonan syndrome 4 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: SOS1-related condition PMID:28492532 10052521 CV194939 NM_005633.4(SOS1):c.698A>G (p.Asn233Ser) variant DOID:0080690 RASopathy IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: rasopathies PMID:28492532 10052521 CV194939 NM_005633.4(SOS1):c.698A>G (p.Asn233Ser) variant DOID:3490 Noonan syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Noonan's syndrome PMID:28492532 10052522 CV194940 NM_005677.4(COLQ):c.391A>G (p.Lys131Glu) variant DOID:0110667 congenital myasthenic syndrome 5 IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Endplate acetylcholinesterase deficiency PMID:25741868|PMID:28492532 10052523 CV194941 NM_006019.4(TCIRG1):c.479G>A (p.Gly160Glu) variant DOID:0110942 autosomal recessive osteopetrosis 1 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 1 PMID:24753205|PMID:25741868|PMID:28492532 10052524 CV194942 NM_006031.6(PCNT):c.959G>A (p.Arg320Lys) variant DOID:0060609 microcephalic osteodysplastic primordial dwarfism type II IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism type II PMID:25741868|PMID:28492532 10052525 CV194945 NM_006343.3(MERTK):c.791C>G (p.Ala264Gly) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:24265693|PMID:25741868|PMID:28492532 10052526 CV194946 NM_006363.6(SEC23B):c.569G>A (p.Arg190Gln) variant DOID:0081003 Cowden syndrome 7 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Cowden syndrome 7 PMID:28492532 10052526 CV194946 NM_006363.6(SEC23B):c.569G>A (p.Arg190Gln) variant DOID:0111401 congenital dyserythropoietic anemia type II IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: DYSERYTHROPOIETIC ANEMIA, HEMPAS TYPE PMID:28492532 10052528 CV194948 NM_006383.4(CIB2):c.448G>A (p.Asp150Asn) variant DOID:0110505 autosomal recessive nonsyndromic deafness 48 IAGP D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: CIB2-related condition PMID:24033266|PMID:25741868|PMID:28492532 10052529 CV194949 NM_006432.5(NPC2):c.442-4A>C variant DOID:0070113 Niemann-Pick disease type C1 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C1 PMID:25741868|PMID:28492532 10052529 CV194949 NM_006432.5(NPC2):c.442-4A>C variant DOID:0070114 Niemann-Pick disease type C2 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type C2 PMID:25741868|PMID:28492532 10052531 CV194952 NM_001029896.2(WDR45):c.235+18G>T variant DOID:0110739 neurodegeneration with brain iron accumulation 5 IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 5 PMID:25741868|PMID:28492532 10052532 CV194953 NM_007254.4(PNKP):c.501G>A (p.Val167=) variant DOID:0080459 developmental and epileptic encephalopathy 12 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12 PMID:28492532 10052532 CV194953 NM_007254.4(PNKP):c.501G>A (p.Val167=) variant DOID:630 genetic disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10052533 CV194954 NM_012144.4(DNAI1):c.370C>T (p.Arg124Cys) variant DOID:0050144 Kartagener syndrome IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Kartagener syndrome PMID:25741868|PMID:28492532|PMID:34277212|PMID:35626283|PMID:36809189 10052533 CV194954 NM_012144.4(DNAI1):c.370C>T (p.Arg124Cys) variant DOID:9562 primary ciliary dyskinesia IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:25741868|PMID:28492532|PMID:34277212|PMID:35626283|PMID:36809189 10052534 CV194955 NM_012301.4(MAGI2):c.927A>T (p.Glu309Asp) variant DOID:0080271 nephrotic syndrome type 15 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome 15 PMID:25741868|PMID:28492532 10052535 CV194957 NM_013382.7(POMT2):c.643T>C (p.Ser215Pro) variant DOID:0111240 congenital muscular dystrophy-dystroglycanopathy type A2 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 PMID:28492532 10052536 CV194958 NM_014140.4(SMARCAL1):c.962G>A (p.Gly321Asp) variant DOID:0060490 Schimke immuno-osseous dysplasia IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Schimke immuno-osseous dysplasia PMID:28492532 10052536 CV194958 NM_014140.4(SMARCAL1):c.962G>A (p.Gly321Asp) variant DOID:630 genetic disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10052537 CV194962 NM_001330260.2(SCN8A):c.491C>T (p.Thr164Met) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:25741868|PMID:28492532|PMID:29056246|PMID:33004838|PMID:33013363 10052550 CV194976 NM_001379286.1(ZNF423):c.2933C>T (p.Ser978Leu) variant DOID:0111122 nephronophthisis 14 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephronophthisis 14 PMID:28492532 10052551 CV194978 NM_001379286.1(ZNF423):c.1655G>T (p.Gly552Val) variant DOID:0111122 nephronophthisis 14 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: ZNF423-related condition PMID:28492532 10052552 CV194979 NM_001379286.1(ZNF423):c.2013G>A (p.Ala671=) variant DOID:0111122 nephronophthisis 14 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Nephronophthisis 14 PMID:25741868|PMID:28492532 10052553 CV194980 NM_001379286.1(ZNF423):c.2649C>T (p.Ser883=) variant DOID:0111122 nephronophthisis 14 IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Nephronophthisis 14 PMID:28492532 10052554 CV194981 NM_001379286.1(ZNF423):c.807C>T (p.Asp269=) variant DOID:0111122 nephronophthisis 14 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Nephronophthisis 14 PMID:28492532 10052555 CV194982 NM_001379286.1(ZNF423):c.2312C>T (p.Ala771Val) variant DOID:0111122 nephronophthisis 14 IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Nephronophthisis 14 PMID:25741868|PMID:28492532 10052556 CV194984 NM_001379286.1(ZNF423):c.1168T>C (p.Ser390Pro) variant DOID:0111122 nephronophthisis 14 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nephronophthisis 14 PMID:28492532 10052557 CV194985 NM_001379286.1(ZNF423):c.2400C>T (p.Thr800=) variant DOID:0111122 nephronophthisis 14 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Nephronophthisis 14 PMID:28492532 10052558 CV194986 NM_001379286.1(ZNF423):c.1132G>A (p.Ala378Thr) variant DOID:0111122 nephronophthisis 14 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Nephronophthisis 14 PMID:25741868|PMID:28492532 10052558 CV194986 NM_001379286.1(ZNF423):c.1132G>A (p.Ala378Thr) variant DOID:5723 optic atrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Optic atrophy PMID:25741868|PMID:28492532 10052559 CV194991 NM_016729.3(FOLR1):c.719C>T (p.Ala240Val) variant DOID:0050719 cerebral folate receptor alpha deficiency IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Cerebral folate deficiency PMID:28492532 10052559 CV194991 NM_016729.3(FOLR1):c.719C>T (p.Ala240Val) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10052560 CV194992 NM_016729.3(FOLR1):c.510A>G (p.Ala170=) variant DOID:0050719 cerebral folate receptor alpha deficiency IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Cerebral folate deficiency PMID:28492532 10052560 CV194992 NM_016729.3(FOLR1):c.510A>G (p.Ala170=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10052561 CV194994 NM_018100.4(EFHC1):c.916A>G (p.Lys306Glu) variant DOID:0070309 absence epilepsy IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Absence epilepsy PMID:28492532 10052563 CV194996 NM_018418.5(SPATA7):c.364T>A (p.Leu122Ile) variant DOID:0110331 Leber congenital amaurosis 3 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 3 PMID:28492532 10052563 CV194996 NM_018418.5(SPATA7):c.364T>A (p.Leu122Ile) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532 10052563 CV194996 NM_018418.5(SPATA7):c.364T>A (p.Leu122Ile) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10052566 CV195001 NM_019098.5(CNGB3):c.539C>T (p.Pro180Leu) variant DOID:630 genetic disease IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10052567 CV195003 NM_181332.3(NLGN4X):c.1111G>A (p.Val371Ile) variant DOID:630 genetic disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10052569 CV195005 NM_021167.5(GATAD1):c.*4A>G variant DOID:0110441 dilated cardiomyopathy 2B IAGP D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: GATAD1-related condition 10052571 CV195008 NM_022124.6(CDH23):c.310G>A (p.Glu104Lys) variant DOID:0110826 Usher syndrome type 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1 PMID:26467025|PMID:28492532 10052574 CV195011 NM_022455.5(NSD1):c.3383C>T (p.Ser1128Phe) variant DOID:0112103 Sotos syndrome 1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: SOTOS SYNDROME 1 PMID:28492532 10052575 CV195012 NM_022455.5(NSD1):c.3394G>A (p.Gly1132Arg) variant DOID:0112103 Sotos syndrome 1 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: NSD1-related condition PMID:25741868|PMID:28492532 10052575 CV195012 NM_022455.5(NSD1):c.3394G>A (p.Gly1132Arg) variant DOID:14731 Weaver syndrome IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Weaver syndrome PMID:25741868|PMID:28492532 10052575 CV195012 NM_022455.5(NSD1):c.3394G>A (p.Gly1132Arg) variant DOID:14748 Sotos syndrome IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Sotos syndrome PMID:25741868|PMID:28492532 10052579 CV195017 NM_022455.5(NSD1):c.1635G>A (p.Thr545=) variant DOID:0112103 Sotos syndrome 1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: SOTOS SYNDROME 1 PMID:28492532 10052579 CV195017 NM_022455.5(NSD1):c.1635G>A (p.Thr545=) variant DOID:630 genetic disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10052580 CV195018 NM_001256317.3(TMPRSS3):c.326G>A (p.Arg109Gln) variant DOID:0110527 autosomal recessive nonsyndromic deafness 8 IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 8 PMID:11424922|PMID:12920079|PMID:24853665|PMID:25741868|PMID:28492532|PMID:28566687 10052581 CV195020 NM_024675.4(PALB2):c.2505C>T (p.Ser835=) variant DOID:1612 breast cancer IAGP D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:25741868|PMID:28492532|PMID:30287823 10052581 CV195020 NM_024675.4(PALB2):c.2505C>T (p.Ser835=) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532|PMID:30287823 10052581 CV195020 NM_024675.4(PALB2):c.2505C>T (p.Ser835=) variant DOID:9008952 Breast Cancer, Familial IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868|PMID:28492532|PMID:30287823 10052582 CV195023 NM_031433.4(MFRP):c.506A>G (p.His169Arg) variant DOID:0060837 isolated microphthalmia 5 IAGP D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Microphthalmia, isolated 5 PMID:28492532 10052582 CV195023 NM_031433.4(MFRP):c.506A>G (p.His169Arg) variant DOID:630 genetic disease IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10052585 CV195027 NM_001177316.2(SLC34A3):c.375C>T (p.Gly125=) variant DOID:0050947 hereditary hypophosphatemic rickets with hypercalciuria IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: SLC34A3-related condition PMID:28492532 10052586 CV195028 NM_080916.3(DGUOK):c.630G>A (p.Glu210=) variant DOID:0080121 mitochondrial DNA depletion syndrome 3 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) PMID:28492532 10052587 CV195030 NM_133433.4(NIPBL):c.458+7T>C variant DOID:0080505 Cornelia de Lange syndrome 1 IAGP D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 PMID:28492532 10052589 CV195033 NM_001379081.2(FREM1):c.571G>A (p.Gly191Arg) variant DOID:9003259 Marles Greenberg Persaud Syndrome IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Manitoba Trichoanal syndrome PMID:28492532 10052590 CV195036 NM_152443.3(RDH12):c.317G>A (p.Arg106Gln) variant DOID:0110330 Leber congenital amaurosis 13 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 13 PMID:25741868|PMID:28492532 10052590 CV195036 NM_152443.3(RDH12):c.317G>A (p.Arg106Gln) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive PMID:25741868|PMID:28492532 10052590 CV195036 NM_152443.3(RDH12):c.317G>A (p.Arg106Gln) variant DOID:14791 Leber congenital amaurosis IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:25741868|PMID:28492532 10052590 CV195036 NM_152443.3(RDH12):c.317G>A (p.Arg106Gln) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532 10052591 CV195037 NM_152443.3(RDH12):c.195A>C (p.Arg65=) variant DOID:0110330 Leber congenital amaurosis 13 IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 13 PMID:28492532 10052591 CV195037 NM_152443.3(RDH12):c.195A>C (p.Arg65=) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532 10052592 CV195038 NM_152443.3(RDH12):c.300C>T (p.Ser100=) variant DOID:0110330 Leber congenital amaurosis 13 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 13 PMID:28492532 10052592 CV195038 NM_152443.3(RDH12):c.300C>T (p.Ser100=) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532 10052592 CV195038 NM_152443.3(RDH12):c.300C>T (p.Ser100=) variant DOID:14791 Leber congenital amaurosis IAGP D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:28492532 10052593 CV195039 NM_152443.3(RDH12):c.210dup (p.Arg71fs) variant DOID:0110330 Leber congenital amaurosis 13 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 13 PMID:17964524|PMID:22065924|PMID:25741868|PMID:28492532|PMID:30902645|PMID:32014858|PMID:34001834 10052593 CV195039 NM_152443.3(RDH12):c.210dup (p.Arg71fs) variant DOID:14791 Leber congenital amaurosis IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:17964524|PMID:22065924|PMID:25741868|PMID:28492532|PMID:30902645|PMID:32014858|PMID:34001834 10052593 CV195039 NM_152443.3(RDH12):c.210dup (p.Arg71fs) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:17964524|PMID:22065924|PMID:25741868|PMID:28492532|PMID:30902645|PMID:32014858|PMID:34001834 10052594 CV195040 NM_152443.3(RDH12):c.302A>G (p.Asp101Gly) variant DOID:0110330 Leber congenital amaurosis 13 IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 13 PMID:28492532|PMID:30372751 10052594 CV195040 NM_152443.3(RDH12):c.302A>G (p.Asp101Gly) variant DOID:14791 Leber congenital amaurosis IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:28492532|PMID:30372751 10052595 CV195041 NM_153026.3(PRICKLE1):c.434C>T (p.Ala145Val) variant DOID:0111448 progressive myoclonus epilepsy 1B IAGP D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Progressive myoclonus epilepsy with ataxia PMID:25741868|PMID:28492532 10052596 CV195042 NM_153240.5(NPHP3):c.864T>A (p.Thr288=) variant DOID:0070121 Meckel syndrome 7 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Meckel syndrome type 7 PMID:25741868|PMID:28492532 10052596 CV195042 NM_153240.5(NPHP3):c.864T>A (p.Thr288=) variant DOID:0111112 nephronophthisis 1 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:25741868|PMID:28492532 10052596 CV195042 NM_153240.5(NPHP3):c.864T>A (p.Thr288=) variant DOID:0111114 nephronophthisis 3 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Nephronophthisis 3 PMID:25741868|PMID:28492532 10052596 CV195042 NM_153240.5(NPHP3):c.864T>A (p.Thr288=) variant DOID:12712 nephronophthisis IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:25741868|PMID:28492532 10052596 CV195042 NM_153240.5(NPHP3):c.864T>A (p.Thr288=) variant DOID:557 kidney disease IAGP D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Kidney Diseases PMID:25741868|PMID:28492532 10052596 CV195042 NM_153240.5(NPHP3):c.864T>A (p.Thr288=) variant DOID:9001991 Renal-Hepatic-Pancreatic Dysplasia 1 IAGP D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Renal-hepatic-pancreatic dysplasia 1 PMID:25741868|PMID:28492532 10052598 CV195044 NM_000325.6(PITX2):c.431G>A (p.Arg144Gln) variant DOID:0110120 Axenfeld-Rieger syndrome type 1 IAGP D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 PMID:24604414|PMID:25741868|PMID:28492532|PMID:28611552|PMID:29506241|PMID:35882526 10052599 CV195050 NM_172107.4(KCNQ2):c.761A>G (p.Glu254Gly) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 10052600 CV195051 NM_172107.4(KCNQ2):c.774C>T (p.Asn258=) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 10052600 CV195051 NM_172107.4(KCNQ2):c.774C>T (p.Asn258=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10052601 CV195053 NM_172107.4(KCNQ2):c.701C>T (p.Thr234Ile) variant DOID:0080462 developmental and epileptic encephalopathy 7 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: KCNQ2-Related Neonatal Epileptic Encephalopathy PMID:25741868|PMID:25818041|PMID:28492532|PMID:29056246|PMID:29720203 10052601 CV195053 NM_172107.4(KCNQ2):c.701C>T (p.Thr234Ile) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:25741868|PMID:25818041|PMID:28492532|PMID:29056246|PMID:29720203 10052601 CV195053 NM_172107.4(KCNQ2):c.701C>T (p.Thr234Ile) variant DOID:1826 epilepsy IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Seizures PMID:25741868|PMID:25818041|PMID:28492532|PMID:29056246|PMID:29720203 10052603 CV195058 NM_198428.3(BBS9):c.329-7dup variant DOID:1935 Bardet-Biedl syndrome IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 10052604 CV195059 NM_198525.3(KIF7):c.1270C>T (p.Arg424Cys) variant DOID:9250 acrocallosal syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Acrocallosal syndrome PMID:25741868|PMID:28492532 10052605 CV195060 NM_198525.3(KIF7):c.1429G>A (p.Ala477Thr) variant DOID:9250 acrocallosal syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Acrocallosal syndrome PMID:25741868|PMID:28492532 10052607 CV195063 NM_198525.3(KIF7):c.1360C>T (p.Leu454=) variant DOID:9250 acrocallosal syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Acrocallosal syndrome PMID:28492532 10052609 CV195065 NM_198859.4(PRICKLE2):c.444C>T (p.Arg148=) variant DOID:891 progressive myoclonus epilepsy IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532 10052609 CV195065 NM_198859.4(PRICKLE2):c.444C>T (p.Arg148=) variant DOID:9008631 progressive myoclonus epilepsy 5 IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 5 PMID:28492532 10052610 CV195068 NM_213599.3(ANO5):c.294G>A (p.Ala98=) variant DOID:0110284 autosomal recessive limb-girdle muscular dystrophy type 2L IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2L PMID:25741868|PMID:25891276|PMID:26467025|PMID:28492532|PMID:33400223 10052610 CV195068 NM_213599.3(ANO5):c.294G>A (p.Ala98=) variant DOID:0111533 gnathodiaphyseal dysplasia IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Gnathodiaphyseal dysplasia PMID:25741868|PMID:25891276|PMID:26467025|PMID:28492532|PMID:33400223 10052612 CV195071 NM_000090.4(COL3A1):c.4086C>T (p.Ser1362=) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10052612 CV195071 NM_000090.4(COL3A1):c.4086C>T (p.Ser1362=) variant DOID:14756 vascular type Ehlers-Danlos syndrome IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ehlers Danlos syndrome, Sack-Barabas type PMID:25741868|PMID:28492532 10052612 CV195071 NM_000090.4(COL3A1):c.4086C>T (p.Ser1362=) variant DOID:9001287 Ehlers-Danlos Syndrome Type 4 IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos Syndrome Type IV PMID:25741868|PMID:28492532 10052613 CV195072 NM_001854.4(COL11A1):c.3811G>T (p.Val1271Leu) variant DOID:0080672 fibrochondrogenesis 1 IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Fibrochondrogenesis 1 PMID:28492532 10052613 CV195072 NM_001854.4(COL11A1):c.3811G>T (p.Val1271Leu) variant DOID:0080675 Stickler syndrome 2 IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Stickler syndrome type 2 PMID:28492532 10052613 CV195072 NM_001854.4(COL11A1):c.3811G>T (p.Val1271Leu) variant DOID:0111510 Marshall syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Marshall syndrome PMID:28492532 10052614 CV195075 NM_152564.5(VPS13B):c.9131A>C (p.Glu3044Ala) variant DOID:0111590 Cohen syndrome IAGP D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:25741868|PMID:28492532 10052614 CV195075 NM_152564.5(VPS13B):c.9131A>C (p.Glu3044Ala) variant DOID:9001162 Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness PMID:25741868|PMID:28492532 10052615 CV195076 NM_025074.7(FRAS1):c.7039G>T (p.Val2347Phe) variant DOID:0090001 Fraser syndrome IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Cryptophthalmos with other malformations PMID:25741868|PMID:28492532|PMID:30639323 10052615 CV195076 NM_025074.7(FRAS1):c.7039G>T (p.Val2347Phe) variant DOID:0111405 Fraser syndrome 1 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fraser syndrome 1 PMID:25741868|PMID:28492532|PMID:30639323 10052616 CV195077 NM_001267550.2(TTN):c.15775+9A>G variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:28492532 10052618 CV195080 NM_000138.5(FBN1):c.6189G>A (p.Ala2063=) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection PMID:25741868|PMID:28492532 10052618 CV195080 NM_000138.5(FBN1):c.6189G>A (p.Ala2063=) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868|PMID:28492532 10052618 CV195080 NM_000138.5(FBN1):c.6189G>A (p.Ala2063=) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:25741868|PMID:28492532 10052619 CV195081 NM_000393.5(COL5A2):c.3836T>C (p.Ile1279Thr) variant DOID:0080726 Ehlers-Danlos syndrome classic type 2 IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 2 PMID:25741868|PMID:28492532 10052619 CV195081 NM_000393.5(COL5A2):c.3836T>C (p.Ile1279Thr) variant DOID:14720 Ehlers-Danlos syndrome classic type 1 IAGP D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:25741868|PMID:28492532 10052619 CV195081 NM_000393.5(COL5A2):c.3836T>C (p.Ile1279Thr) variant DOID:65 connective tissue disease IAGP D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Connective tissue disease PMID:25741868|PMID:28492532 10052620 CV195082 NM_000426.4(LAMA2):c.7300+10T>A variant DOID:0110636 congenital merosin-deficient muscular dystrophy 1A IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Laminin alpha 2-related dystrophy PMID:25741868|PMID:28492532 10052620 CV195082 NM_000426.4(LAMA2):c.7300+10T>A variant DOID:9007352 Congenital Muscular Dystrophy due to Partial LAMA2 Deficiency IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy due to partial LAMA2 deficiency PMID:25741868|PMID:28492532 10052621 CV195083 NM_000540.3(RYR1):c.8073C>T (p.Tyr2691=) variant DOID:8545 malignant hyperthermia IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Malignant hyperpyrexia PMID:25741868|PMID:28492532 10052621 CV195083 NM_000540.3(RYR1):c.8073C>T (p.Tyr2691=) variant DOID:9005320 Malignant Fever IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Pharmacogenic myopathy PMID:25741868|PMID:28492532 10052623 CV195089 NM_032119.4(ADGRV1):c.10563T>C (p.Leu3521=) variant DOID:0111305 familial febrile seizures 4 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: ADGRV1-related disorder PMID:24033266|PMID:28492532 10052624 CV195090 NM_182961.4(SYNE1):c.7647C>T (p.His2549=) variant DOID:0111618 autosomal recessive spinocerebellar ataxia 8 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 PMID:25741868|PMID:26467025|PMID:28492532 10052625 CV195092 NM_182914.3(SYNE2):c.10424G>A (p.Ser3475Asn) variant DOID:0070250 autosomal dominant Emery-Dreifuss muscular dystrophy 5 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 5, autosomal dominant PMID:28492532 10052628 CV195097 NM_004006.3(DMD):c.7658G>A (p.Arg2553Gln) variant DOID:11723 Duchenne muscular dystrophy IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:25741868|PMID:28492532|PMID:33874732 10052630 CV195099 NM_152564.5(VPS13B):c.9551A>G (p.Glu3184Gly) variant DOID:0111590 Cohen syndrome IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:25741868|PMID:28492532 10052630 CV195099 NM_152564.5(VPS13B):c.9551A>G (p.Glu3184Gly) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10052632 CV195101 NM_182961.4(SYNE1):c.7976C>A (p.Thr2659Asn) variant DOID:0070249 autosomal dominant Emery-Dreifuss muscular dystrophy 4 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant PMID:26467025|PMID:28492532 10052632 CV195101 NM_182961.4(SYNE1):c.7976C>A (p.Thr2659Asn) variant DOID:0111618 autosomal recessive spinocerebellar ataxia 8 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 PMID:26467025|PMID:28492532 10052632 CV195101 NM_182961.4(SYNE1):c.7976C>A (p.Thr2659Asn) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532 10052633 CV195102 NM_001267550.2(TTN):c.16310G>A (p.Ser5437Asn) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Salih Myopathy PMID:25741868|PMID:28492532 10052633 CV195102 NM_001267550.2(TTN):c.16310G>A (p.Ser5437Asn) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:25741868|PMID:28492532 10052633 CV195102 NM_001267550.2(TTN):c.16310G>A (p.Ser5437Asn) variant DOID:0110315 hypertrophic cardiomyopathy 9 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 9 PMID:25741868|PMID:28492532 10052633 CV195102 NM_001267550.2(TTN):c.16310G>A (p.Ser5437Asn) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:25741868|PMID:28492532 10052633 CV195102 NM_001267550.2(TTN):c.16310G>A (p.Ser5437Asn) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Udd Distal Myopathy PMID:25741868|PMID:28492532 10052633 CV195102 NM_001267550.2(TTN):c.16310G>A (p.Ser5437Asn) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant PMID:25741868|PMID:28492532 10052634 CV195103 NM_138694.4(PKHD1):c.8174-18dup variant DOID:0080212 polycystic kidney disease 4 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease 4 PMID:25741868|PMID:28492532 10052634 CV195103 NM_138694.4(PKHD1):c.8174-18dup variant DOID:0110861 autosomal recessive polycystic kidney disease IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease PMID:25741868|PMID:28492532 10052636 CV195105 NM_206933.4(USH2A):c.10341C>T (p.Ala3447=) variant DOID:0110838 Usher syndrome type 2A IAGP D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Usher syndrome, type 2A PMID:24033266|PMID:28492532 10052637 CV195106 NM_000426.4(LAMA2):c.7440-9G>A variant DOID:0110636 congenital merosin-deficient muscular dystrophy 1A IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Laminin alpha 2-related dystrophy PMID:28492532 10052638 CV195107 NM_000540.3(RYR1):c.8327C>T (p.Ser2776Phe) variant DOID:0080991 congenital myopathy 1B IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Minicore myopathy with external ophthalmoplegia PMID:21514828|PMID:21965348|PMID:22705209|PMID:23204524|PMID:24033266|PMID:24195946|PMID:25461839|PMID:25741868|PMID:25960145|PMID:26467025|PMID:28492532|PMID:30788618 10052638 CV195107 NM_000540.3(RYR1):c.8327C>T (p.Ser2776Phe) variant DOID:3529 congenital myopathy 1A IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Shy-Magee syndrome PMID:21514828|PMID:21965348|PMID:22705209|PMID:23204524|PMID:24033266|PMID:24195946|PMID:25461839|PMID:25741868|PMID:25960145|PMID:26467025|PMID:28492532|PMID:30788618 10052638 CV195107 NM_000540.3(RYR1):c.8327C>T (p.Ser2776Phe) variant DOID:8545 malignant hyperthermia IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Malignant hyperpyrexia PMID:21514828|PMID:21965348|PMID:22705209|PMID:23204524|PMID:24033266|PMID:24195946|PMID:25461839|PMID:25741868|PMID:25960145|PMID:26467025|PMID:28492532|PMID:30788618 10052638 CV195107 NM_000540.3(RYR1):c.8327C>T (p.Ser2776Phe) variant DOID:9005001 Congenital Neuromuscular Disease, with Uniform Type 1 Fiber IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Neuromuscular disease, congenital, with uniform type 1 fiber PMID:21514828|PMID:21965348|PMID:22705209|PMID:23204524|PMID:24033266|PMID:24195946|PMID:25461839|PMID:25741868|PMID:25960145|PMID:26467025|PMID:28492532|PMID:30788618 10052638 CV195107 NM_000540.3(RYR1):c.8327C>T (p.Ser2776Phe) variant DOID:9005320 Malignant Fever IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Pharmacogenic myopathy PMID:21514828|PMID:21965348|PMID:22705209|PMID:23204524|PMID:24033266|PMID:24195946|PMID:25461839|PMID:25741868|PMID:25960145|PMID:26467025|PMID:28492532|PMID:30788618 10052641 CV195112 NM_004006.3(DMD):c.7747A>G (p.Thr2583Ala) variant DOID:11723 Duchenne muscular dystrophy IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:28492532 10052641 CV195112 NM_004006.3(DMD):c.7747A>G (p.Thr2583Ala) variant DOID:9883 Becker muscular dystrophy IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Becker muscular dystrophy PMID:28492532 10052643 CV195114 NM_152564.5(VPS13B):c.9645C>T (p.Leu3215=) variant DOID:0111590 Cohen syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:25741868|PMID:28492532 10052643 CV195114 NM_152564.5(VPS13B):c.9645C>T (p.Leu3215=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10052644 CV195115 NM_152564.5(VPS13B):c.9646G>A (p.Gly3216Arg) variant DOID:0111590 Cohen syndrome IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 10052645 CV195117 NM_001267550.2(TTN):c.16515T>C (p.Ser5505=) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: CONGENITAL MYOPATHY 5 WITH CARDIOMYOPATHY PMID:25741868|PMID:28492532 10052645 CV195117 NM_001267550.2(TTN):c.16515T>C (p.Ser5505=) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:25741868|PMID:28492532 10052645 CV195117 NM_001267550.2(TTN):c.16515T>C (p.Ser5505=) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:25741868|PMID:28492532 10052645 CV195117 NM_001267550.2(TTN):c.16515T>C (p.Ser5505=) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:25741868|PMID:28492532 10052645 CV195117 NM_001267550.2(TTN):c.16515T>C (p.Ser5505=) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant PMID:25741868|PMID:28492532 10052646 CV195118 NM_001267550.2(TTN):c.16551G>A (p.Ser5517=) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 10052646 CV195118 NM_001267550.2(TTN):c.16551G>A (p.Ser5517=) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Myopathy, early-onset, with fatal cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 10052646 CV195118 NM_001267550.2(TTN):c.16551G>A (p.Ser5517=) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2J PMID:24033266|PMID:25741868|PMID:28492532 10052646 CV195118 NM_001267550.2(TTN):c.16551G>A (p.Ser5517=) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:24033266|PMID:25741868|PMID:28492532 10052646 CV195118 NM_001267550.2(TTN):c.16551G>A (p.Ser5517=) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:24033266|PMID:25741868|PMID:28492532 10052646 CV195118 NM_001267550.2(TTN):c.16551G>A (p.Ser5517=) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:24033266|PMID:25741868|PMID:28492532 10052647 CV195119 NM_138694.4(PKHD1):c.8411T>A (p.Met2804Lys) variant DOID:0080212 polycystic kidney disease 4 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease 4 PMID:19914852|PMID:20413436|PMID:25741868|PMID:27752906|PMID:28492532|PMID:33282801 10052647 CV195119 NM_138694.4(PKHD1):c.8411T>A (p.Met2804Lys) variant DOID:0110861 autosomal recessive polycystic kidney disease IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease PMID:19914852|PMID:20413436|PMID:25741868|PMID:27752906|PMID:28492532|PMID:33282801 10052648 CV195121 NM_000540.3(RYR1):c.8505A>T (p.Glu2835Asp) variant DOID:0080102 congenital myopathy 4A IAGP D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion PMID:25326635|PMID:25741868|PMID:28492532 10052648 CV195121 NM_000540.3(RYR1):c.8505A>T (p.Glu2835Asp) variant DOID:0080991 congenital myopathy 1B IAGP D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: MULTIMINICORE MYOPATHY MULTICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA PMID:25326635|PMID:25741868|PMID:28492532 10052648 CV195121 NM_000540.3(RYR1):c.8505A>T (p.Glu2835Asp) variant DOID:3529 congenital myopathy 1A IAGP D RGD:8554872 20181009 ClinVar ClinVar Annotator: match by term: Central core disease PMID:25326635|PMID:25741868|PMID:28492532 10052648 CV195121 NM_000540.3(RYR1):c.8505A>T (p.Glu2835Asp) variant DOID:422 congenital structural myopathy IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy PMID:25326635|PMID:25741868|PMID:28492532 10052648 CV195121 NM_000540.3(RYR1):c.8505A>T (p.Glu2835Asp) variant DOID:8545 malignant hyperthermia IAGP D RGD:8554872 20190416 ClinVar ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 PMID:25326635|PMID:25741868|PMID:28492532 10052648 CV195121 NM_000540.3(RYR1):c.8505A>T (p.Glu2835Asp) variant DOID:9005320 Malignant Fever IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Pharmacogenic myopathy PMID:25326635|PMID:25741868|PMID:28492532 10052649 CV195122 NM_001035.3(RYR2):c.8147A>T (p.Lys2716Ile) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:25741868|PMID:28404607|PMID:28492532|PMID:28790152|PMID:29447731|PMID:30847666|PMID:31078384|PMID:32152366 10052649 CV195122 NM_001035.3(RYR2):c.8147A>T (p.Lys2716Ile) variant DOID:0060674 catecholaminergic polymorphic ventricular tachycardia IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28404607|PMID:28492532|PMID:28790152|PMID:29447731|PMID:30847666|PMID:31078384|PMID:32152366 10052649 CV195122 NM_001035.3(RYR2):c.8147A>T (p.Lys2716Ile) variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:25741868|PMID:28404607|PMID:28492532|PMID:28790152|PMID:29447731|PMID:30847666|PMID:31078384|PMID:32152366 10052651 CV195125 NM_001854.4(COL11A1):c.4057G>A (p.Ala1353Thr) variant DOID:0080672 fibrochondrogenesis 1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Fibrochondrogenesis 1 PMID:28492532 10052651 CV195125 NM_001854.4(COL11A1):c.4057G>A (p.Ala1353Thr) variant DOID:0080675 Stickler syndrome 2 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Stickler syndrome type 2 PMID:28492532 10052651 CV195125 NM_001854.4(COL11A1):c.4057G>A (p.Ala1353Thr) variant DOID:630 genetic disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10052652 CV195127 NM_001130987.2(DYSF):c.6238C>T (p.Arg2080Trp) variant DOID:0110276 autosomal recessive limb-girdle muscular dystrophy type 2B IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 3 PMID:25741868|PMID:28492532 10052652 CV195127 NM_001130987.2(DYSF):c.6238C>T (p.Arg2080Trp) variant DOID:630 genetic disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10052652 CV195127 NM_001130987.2(DYSF):c.6238C>T (p.Arg2080Trp) variant DOID:9004518 Dysferlinopathy IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Dysferlinopathy PMID:25741868|PMID:28492532 10052653 CV195128 NM_001130987.2(DYSF):c.6174G>A (p.Arg2058=) variant DOID:0070198 Miyoshi muscular dystrophy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, distal, late onset, autosomal recessive PMID:25741868|PMID:26467025|PMID:28492532|PMID:34906502 10052653 CV195128 NM_001130987.2(DYSF):c.6174G>A (p.Arg2058=) variant DOID:0110274 autosomal recessive limb-girdle muscular dystrophy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive PMID:25741868|PMID:26467025|PMID:28492532|PMID:34906502 10052653 CV195128 NM_001130987.2(DYSF):c.6174G>A (p.Arg2058=) variant DOID:0110276 autosomal recessive limb-girdle muscular dystrophy type 2B IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 3 PMID:25741868|PMID:26467025|PMID:28492532|PMID:34906502 10052653 CV195128 NM_001130987.2(DYSF):c.6174G>A (p.Arg2058=) variant DOID:630 genetic disease IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532|PMID:34906502 10052654 CV195129 NM_004006.3(DMD):c.7988C>G (p.Thr2663Arg) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:28492532 10052654 CV195129 NM_004006.3(DMD):c.7988C>G (p.Thr2663Arg) variant DOID:11723 Duchenne muscular dystrophy IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:28492532 10052654 CV195129 NM_004006.3(DMD):c.7988C>G (p.Thr2663Arg) variant DOID:9883 Becker muscular dystrophy IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Becker muscular dystrophy PMID:28492532 10052655 CV195130 NM_005045.4(RELN):c.8843+3A>C variant DOID:0060748 familial temporal lobe epilepsy 1 IAGP D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Familial temporal lobe epilepsy 1 PMID:25741868|PMID:28492532|PMID:29358611 10052655 CV195130 NM_005045.4(RELN):c.8843+3A>C variant DOID:0060751 familial temporal lobe epilepsy 7 IAGP D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 7 PMID:25741868|PMID:28492532|PMID:29358611 10052655 CV195130 NM_005045.4(RELN):c.8843+3A>C variant DOID:0060902 Norman-Roberts syndrome IAGP D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Norman-Roberts syndrome PMID:25741868|PMID:28492532|PMID:29358611 10052655 CV195130 NM_005045.4(RELN):c.8843+3A>C variant DOID:3329 benign epilepsy with centrotemporal spikes IAGP D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:25741868|PMID:28492532|PMID:29358611 10052657 CV195132 NM_005045.4(RELN):c.8703C>A (p.Ile2901=) variant DOID:0060902 Norman-Roberts syndrome IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Norman-Roberts syndrome PMID:25741868|PMID:28492532 10052659 CV195134 NM_025114.4(CEP290):c.7416T>A (p.Ser2472Arg) variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:25741868|PMID:28492532 10052659 CV195134 NM_025114.4(CEP290):c.7416T>A (p.Ser2472Arg) variant DOID:0070118 Meckel syndrome 4 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: CEP290-related disorder PMID:25741868|PMID:28492532 10052659 CV195134 NM_025114.4(CEP290):c.7416T>A (p.Ser2472Arg) variant DOID:0110291 Leber congenital amaurosis 10 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 10 PMID:25741868|PMID:28492532 10052661 CV195136 NM_182961.4(SYNE1):c.8403C>T (p.Tyr2801=) variant DOID:0111618 autosomal recessive spinocerebellar ataxia 8 IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 PMID:25741868|PMID:26467025|PMID:28492532 10052662 CV195137 NM_001267550.2(TTN):c.16716A>G (p.Pro5572=) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Myopathy, early-onset, with fatal cardiomyopathy PMID:26467025|PMID:28492532 10052662 CV195137 NM_001267550.2(TTN):c.16716A>G (p.Pro5572=) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2J PMID:26467025|PMID:28492532 10052662 CV195137 NM_001267550.2(TTN):c.16716A>G (p.Pro5572=) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:26467025|PMID:28492532 10052662 CV195137 NM_001267550.2(TTN):c.16716A>G (p.Pro5572=) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:26467025|PMID:28492532 10052662 CV195137 NM_001267550.2(TTN):c.16716A>G (p.Pro5572=) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:26467025|PMID:28492532 10052663 CV195138 NM_000093.5(COL5A1):c.4234G>A (p.Glu1412Lys) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:28492532 10052663 CV195138 NM_000093.5(COL5A1):c.4234G>A (p.Glu1412Lys) variant DOID:14720 Ehlers-Danlos syndrome classic type 1 IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type PMID:28492532 10052664 CV195140 NM_004006.3(DMD):c.8147A>G (p.Gln2716Arg) variant DOID:11723 Duchenne muscular dystrophy IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:28492532 10052664 CV195140 NM_004006.3(DMD):c.8147A>G (p.Gln2716Arg) variant DOID:9883 Becker muscular dystrophy IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Becker muscular dystrophy PMID:28492532 10052665 CV195142 NM_004006.3(DMD):c.8076A>G (p.Gln2692=) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:28492532 10052665 CV195142 NM_004006.3(DMD):c.8076A>G (p.Gln2692=) variant DOID:11723 Duchenne muscular dystrophy IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:28492532 10052665 CV195142 NM_004006.3(DMD):c.8076A>G (p.Gln2692=) variant DOID:9883 Becker muscular dystrophy IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Muscular dystrophy pseudohypertrophic progressive, Becker type PMID:28492532 10052666 CV195143 NM_005045.4(RELN):c.8863C>T (p.Arg2955Cys) variant DOID:0060751 familial temporal lobe epilepsy 7 IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Familial temporal lobe epilepsy 7 PMID:25741868|PMID:28492532 10052666 CV195143 NM_005045.4(RELN):c.8863C>T (p.Arg2955Cys) variant DOID:0060902 Norman-Roberts syndrome IAGP D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Norman-Roberts syndrome PMID:25741868|PMID:28492532 10052667 CV195144 NM_182961.4(SYNE1):c.8532G>A (p.Met2844Ile) variant DOID:0111618 autosomal recessive spinocerebellar ataxia 8 IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type PMID:25741868|PMID:28492532 10052669 CV195146 NM_080680.3(COL11A2):c.4000G>C (p.Gly1334Arg) variant DOID:630 genetic disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 10052671 CV195149 NM_001130438.3(SPTAN1):c.7233C>T (p.Ser2411=) variant DOID:0080438 developmental and epileptic encephalopathy 5 IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 5 PMID:25741868|PMID:28492532 10052671 CV195149 NM_001130438.3(SPTAN1):c.7233C>T (p.Ser2411=) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:25741868|PMID:28492532 10052671 CV195149 NM_001130438.3(SPTAN1):c.7233C>T (p.Ser2411=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10052673 CV195152 NM_004006.3(DMD):c.8374A>G (p.Lys2792Glu) variant DOID:11723 Duchenne muscular dystrophy IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:25741868|PMID:28492532 10052674 CV195153 NM_004006.3(DMD):c.8226A>G (p.Gln2742=) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10052674 CV195153 NM_004006.3(DMD):c.8226A>G (p.Gln2742=) variant DOID:11723 Duchenne muscular dystrophy IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:25741868|PMID:28492532 10052674 CV195153 NM_004006.3(DMD):c.8226A>G (p.Gln2742=) variant DOID:9883 Becker muscular dystrophy IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Muscular dystrophy pseudohypertrophic progressive, Becker type PMID:25741868|PMID:28492532 10052675 CV195154 NM_152564.5(VPS13B):c.10518A>T (p.Leu3506Phe) variant DOID:0111590 Cohen syndrome IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 10052676 CV195155 NM_152564.5(VPS13B):c.10313A>G (p.Asn3438Ser) variant DOID:0111590 Cohen syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: VPS13B-related condition PMID:28492532 10052676 CV195155 NM_152564.5(VPS13B):c.10313A>G (p.Asn3438Ser) variant DOID:630 genetic disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10052676 CV195155 NM_152564.5(VPS13B):c.10313A>G (p.Asn3438Ser) variant DOID:9001162 Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness PMID:28492532 10052677 CV195156 NM_152564.5(VPS13B):c.10240T>C (p.Leu3414=) variant DOID:0111590 Cohen syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Pepper syndrome PMID:25741868|PMID:28492532 10052677 CV195156 NM_152564.5(VPS13B):c.10240T>C (p.Leu3414=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10052678 CV195157 NM_182914.3(SYNE2):c.11313G>C (p.Gln3771His) variant DOID:0070250 autosomal dominant Emery-Dreifuss muscular dystrophy 5 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 5, autosomal dominant PMID:28492532 10052679 CV195159 NM_001377.3(DYNC2H1):c.9045T>G (p.Asp3015Glu) variant DOID:0050592 asphyxiating thoracic dystrophy IAGP D RGD:8554872 20181023 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:29068549 10052681 CV195161 NM_001130438.3(SPTAN1):c.7392G>A (p.Ala2464=) variant DOID:0080438 developmental and epileptic encephalopathy 5 IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 5 PMID:25741868|PMID:28492532 10052681 CV195161 NM_001130438.3(SPTAN1):c.7392G>A (p.Ala2464=) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:25741868|PMID:28492532 10052681 CV195161 NM_001130438.3(SPTAN1):c.7392G>A (p.Ala2464=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10052682 CV195162 NM_001376.5(DYNC1H1):c.10887C>T (p.Phe3629=) variant DOID:0110175 Charcot-Marie-Tooth disease axonal type 2O IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2O PMID:26467025|PMID:28492532 10052682 CV195162 NM_001376.5(DYNC1H1):c.10887C>T (p.Phe3629=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532 10052683 CV195163 NM_001164508.2(NEB):c.7917T>C (p.Asp2639=) variant DOID:0110928 nemaline myopathy 2 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 2 PMID:28492532 10052684 CV195164 NM_001164508.2(NEB):c.7861G>A (p.Asp2621Asn) variant DOID:0110928 nemaline myopathy 2 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 2 PMID:25741868|PMID:28492532 10052684 CV195164 NM_001164508.2(NEB):c.7861G>A (p.Asp2621Asn) variant DOID:630 genetic disease IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10052685 CV195165 NM_005045.4(RELN):c.9321C>T (p.Leu3107=) variant DOID:0060751 familial temporal lobe epilepsy 7 IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Familial temporal lobe epilepsy 7 PMID:25741868|PMID:28492532 10052685 CV195165 NM_005045.4(RELN):c.9321C>T (p.Leu3107=) variant DOID:0060902 Norman-Roberts syndrome IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: RELN-related condition PMID:25741868|PMID:28492532 10052687 CV195167 NM_005045.4(RELN):c.9276C>T (p.His3092=) variant DOID:0060902 Norman-Roberts syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Norman-Roberts syndrome PMID:28492532 10052688 CV195168 NM_005529.7(HSPG2):c.7438C>T (p.Arg2480Trp) variant DOID:0090005 Schwartz-Jampel syndrome 1 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Schwartz-Jampel syndrome PMID:25741868|PMID:28492532 10052688 CV195168 NM_005529.7(HSPG2):c.7438C>T (p.Arg2480Trp) variant DOID:9005084 Kniest Like Dysplasia Lethal IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lethal Kniest-like syndrome PMID:25741868|PMID:28492532 10052689 CV195169 NM_032119.4(ADGRV1):c.11761G>A (p.Ala3921Thr) variant DOID:0110839 Usher syndrome type 2C IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Usher syndrome, type 2C PMID:28492532 10052689 CV195169 NM_032119.4(ADGRV1):c.11761G>A (p.Ala3921Thr) variant DOID:630 genetic disease IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10052691 CV195171 NM_000051.4(ATM):c.8518T>C (p.Leu2840=) variant DOID:12704 ataxia telangiectasia IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:25741868|PMID:28492532 10052691 CV195171 NM_000051.4(ATM):c.8518T>C (p.Leu2840=) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532 10052691 CV195171 NM_000051.4(ATM):c.8518T>C (p.Leu2840=) variant DOID:9008952 Breast Cancer, Familial IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868|PMID:28492532 10052692 CV195173 NM_005045.4(RELN):c.9414C>T (p.Ser3138=) variant DOID:0060902 Norman-Roberts syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Lissencephaly 2 PMID:28492532 10052693 CV195175 NM_182961.4(SYNE1):c.9148C>G (p.Leu3050Val) variant DOID:0070249 autosomal dominant Emery-Dreifuss muscular dystrophy 4 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES PMID:25976027|PMID:26467025|PMID:28492532 10052693 CV195175 NM_182961.4(SYNE1):c.9148C>G (p.Leu3050Val) variant DOID:0111618 autosomal recessive spinocerebellar ataxia 8 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 PMID:25976027|PMID:26467025|PMID:28492532 10052694 CV195176 NM_138694.4(PKHD1):c.9363T>C (p.Asn3121=) variant DOID:0110861 autosomal recessive polycystic kidney disease IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease PMID:28492532 10052695 CV195177 NM_138694.4(PKHD1):c.9299A>G (p.Glu3100Gly) variant DOID:0110861 autosomal recessive polycystic kidney disease IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease PMID:28492532 10052696 CV195178 NM_001377.3(DYNC2H1):c.9254C>T (p.Ala3085Val) variant DOID:0050592 asphyxiating thoracic dystrophy IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:28492532 10052696 CV195178 NM_001377.3(DYNC2H1):c.9254C>T (p.Ala3085Val) variant DOID:0110087 asphyxiating thoracic dystrophy 3 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: DYNC2H1-related disorder PMID:28492532 10052697 CV195179 NM_001277115.2(DNAH11):c.9640G>A (p.Ala3214Thr) variant DOID:0110605 primary ciliary dyskinesia 7 IAGP D RGD:8554872 20240305 ClinVar ClinVar Annotator: match by term: DNAH11-related condition PMID:25741868|PMID:28492532 10052697 CV195179 NM_001277115.2(DNAH11):c.9640G>A (p.Ala3214Thr) variant DOID:9562 primary ciliary dyskinesia IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:25741868|PMID:28492532 10052698 CV195183 NM_025074.7(FRAS1):c.8827C>T (p.Arg2943Trp) variant DOID:0111405 Fraser syndrome 1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Fraser syndrome 1 PMID:25741868 10052699 CV195184 NM_025074.7(FRAS1):c.8846A>T (p.Tyr2949Phe) variant DOID:0111405 Fraser syndrome 1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Fraser syndrome 1 PMID:25741868 10052699 CV195184 NM_025074.7(FRAS1):c.8846A>T (p.Tyr2949Phe) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 10052700 CV195185 NM_032119.4(ADGRV1):c.12208G>A (p.Val4070Ile) variant DOID:0110827 Usher syndrome type 2 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2 PMID:25741868|PMID:28157192|PMID:28492532|PMID:30311386 10052700 CV195185 NM_032119.4(ADGRV1):c.12208G>A (p.Val4070Ile) variant DOID:9004538 Hearing Loss IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:25741868|PMID:28157192|PMID:28492532|PMID:30311386 10052701 CV195186 NM_000016.6(ACADM):c.443G>A (p.Arg148Lys) variant DOID:0080153 medium chain acyl-CoA dehydrogenase deficiency IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Medium-chain acyl-coenzyme A dehydrogenase deficiency PMID:18241067|PMID:20036593|PMID:20434380|PMID:21929648|PMID:22848008|PMID:24718418|PMID:25741868|PMID:26467025|PMID:27308838|PMID:27477829|PMID:28492532|PMID:31836396 10052702 CV195187 NM_000018.4(ACADVL):c.455G>A (p.Gly152Asp) variant DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:19327992|PMID:28492532 10052703 CV195188 NM_000018.4(ACADVL):c.427G>T (p.Gly143Cys) variant DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:28492532 10052704 CV195192 NM_000023.4(SGCA):c.700G>A (p.Asp234Asn) variant DOID:0110274 autosomal recessive limb-girdle muscular dystrophy IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy PMID:25741868|PMID:28492532|PMID:32875335 10052704 CV195192 NM_000023.4(SGCA):c.700G>A (p.Asp234Asn) variant DOID:0110278 autosomal recessive limb-girdle muscular dystrophy type 2D IAGP D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2D PMID:25741868|PMID:28492532|PMID:32875335 10052705 CV195193 NM_000023.4(SGCA):c.690G>C (p.Leu230=) variant DOID:0110278 autosomal recessive limb-girdle muscular dystrophy type 2D IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2D PMID:28492532 10052706 CV195194 NM_000023.4(SGCA):c.680C>G (p.Pro227Arg) variant DOID:0110278 autosomal recessive limb-girdle muscular dystrophy type 2D IAGP D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Sarcoglycanopathy PMID:25741868|PMID:26467025|PMID:28492532 10052708 CV195197 NM_000036.3(AMPD1):c.636C>T (p.Asp212=) variant DOID:9008558 MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Muscle AMP deaminase deficiency PMID:28492532 10052709 CV195200 NM_000079.4(CHRNA1):c.655C>T (p.Leu219=) variant DOID:3635 congenital myasthenic syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Congenital Myasthenic Syndrome, Dominant/Recessive PMID:25741868|PMID:26467025|PMID:28492532 10052709 CV195200 NM_000079.4(CHRNA1):c.655C>T (p.Leu219=) variant DOID:9005962 Multiple Pterygium Syndrome, Lethal Type IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Lethal multiple pterygium syndrome PMID:25741868|PMID:26467025|PMID:28492532 10052710 CV195202 NM_000093.5(COL5A1):c.805G>A (p.Glu269Lys) variant DOID:0080727 Ehlers-Danlos syndrome arthrochalasia type 1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome type 7A PMID:27011056|PMID:28492532 10052710 CV195202 NM_000093.5(COL5A1):c.805G>A (p.Glu269Lys) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:27011056|PMID:28492532 10052710 CV195202 NM_000093.5(COL5A1):c.805G>A (p.Glu269Lys) variant DOID:14720 Ehlers-Danlos syndrome classic type 1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: EDS I PMID:27011056|PMID:28492532 10052710 CV195202 NM_000093.5(COL5A1):c.805G>A (p.Glu269Lys) variant DOID:9003323 Multifocal Fibromuscular Dysplasia IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: COL5A1-related condition PMID:27011056|PMID:28492532 10052711 CV195204 NM_000117.3(EMD):c.454C>T (p.Arg152Cys) variant DOID:0070246 X-linked Emery-Dreifuss muscular dystrophy 1 IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 1, X-linked PMID:23349452|PMID:23785128|PMID:25741868|PMID:26187847|PMID:26467025|PMID:28492532|PMID:30847666|PMID:32880476 10052711 CV195204 NM_000117.3(EMD):c.454C>T (p.Arg152Cys) variant DOID:11726 Emery-Dreifuss muscular dystrophy IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:23349452|PMID:23785128|PMID:25741868|PMID:26187847|PMID:26467025|PMID:28492532|PMID:30847666|PMID:32880476 10052712 CV195206 NM_000143.4(FH):c.892G>C (p.Ala298Pro) variant DOID:9005510 Hereditary Leiomyomatosis and Renal Cell Cancer IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary leiomyomatosis and renal cell cancer PMID:22764886|PMID:28492532 10052712 CV195206 NM_000143.4(FH):c.892G>C (p.Ala298Pro) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:22764886|PMID:28492532 10052713 CV195208 NM_000152.5(GAA):c.1075+4G>A variant DOID:2752 glycogen storage disease II IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type II PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 10052714 CV195209 NM_000154.2(GALK1):c.863C>T (p.Thr288Met) variant DOID:14695 galactokinase deficiency IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Deficiency of galactokinase PMID:11139256|PMID:12694189|PMID:21264483|PMID:25741868 10052716 CV195211 NM_000162.5(GCK):c.601G>T (p.Ala201Ser) variant DOID:0050524 maturity-onset diabetes of the young IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:19790256|PMID:25555642|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33046911|PMID:36257325 10052716 CV195211 NM_000162.5(GCK):c.601G>T (p.Ala201Ser) variant DOID:0111100 maturity-onset diabetes of the young type 2 IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 2 PMID:19790256|PMID:25555642|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33046911|PMID:36257325 10052716 CV195211 NM_000162.5(GCK):c.601G>T (p.Ala201Ser) variant DOID:9351 diabetes mellitus IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:19790256|PMID:25555642|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33046911|PMID:36257325 10052719 CV195216 NM_000180.4(GUCY2D):c.1499C>T (p.Pro500Leu) variant DOID:0110078 Leber congenital amaurosis 1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: AMAUROSIS CONGENITA OF LEBER I PMID:28492532 10052719 CV195216 NM_000180.4(GUCY2D):c.1499C>T (p.Pro500Leu) variant DOID:0111011 cone-rod dystrophy 6 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Retinal cone dystrophy 2 PMID:28492532 10052719 CV195216 NM_000180.4(GUCY2D):c.1499C>T (p.Pro500Leu) variant DOID:14791 Leber congenital amaurosis IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Retinal blindness, congenital PMID:28492532 10052720 CV195217 NM_000180.4(GUCY2D):c.1513C>T (p.Leu505=) variant DOID:0111011 cone-rod dystrophy 6 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 6 PMID:28492532 10052721 CV195219 NM_000199.5(SGSH):c.734G>T (p.Arg245Leu) variant DOID:0111395 mucopolysaccharidosis type IIIA IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-A PMID:10601282|PMID:15146460|PMID:25741868|PMID:28492532|PMID:9158154|PMID:9700599 10052724 CV195224 NM_000275.3(OCA2):c.593C>T (p.Pro198Leu) variant DOID:0070096 oculocutaneous albinism type II IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Tyrosinase-positive oculocutaneous albinism PMID:12713581|PMID:18821858|PMID:19865097|PMID:24033266|PMID:24118800|PMID:25741868|PMID:25919014|PMID:28492532|PMID:29437493 10052724 CV195224 NM_000275.3(OCA2):c.593C>T (p.Pro198Leu) variant DOID:9000752 Skin/Hair/Eye Pigmentation, Variation In, 1 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES PMID:12713581|PMID:18821858|PMID:19865097|PMID:24033266|PMID:24118800|PMID:25741868|PMID:25919014|PMID:28492532|PMID:29437493 10052725 CV195225 NM_000275.3(OCA2):c.632C>T (p.Pro211Leu) variant DOID:0070096 oculocutaneous albinism type II IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tyrosinase-positive oculocutaneous albinism PMID:12713581|PMID:25412400|PMID:25741868|PMID:28492532|PMID:28976636|PMID:29437493|PMID:31077556|PMID:31813138 10052725 CV195225 NM_000275.3(OCA2):c.632C>T (p.Pro211Leu) variant DOID:9000752 Skin/Hair/Eye Pigmentation, Variation In, 1 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES PMID:12713581|PMID:25412400|PMID:25741868|PMID:28492532|PMID:28976636|PMID:29437493|PMID:31077556|PMID:31813138 10052726 CV195227 NM_000288.4(PEX7):c.576C>T (p.Ile192=) variant DOID:0081438 Peroxisome biogenesis disorder 9B IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 9B PMID:28492532 10052726 CV195227 NM_000288.4(PEX7):c.576C>T (p.Ile192=) variant DOID:0110851 rhizomelic chondrodysplasia punctata type 1 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata type 1 PMID:28492532 10052727 CV195229 NM_000293.3(PHKB):c.518A>G (p.Asn173Ser) variant DOID:0111041 glycogen storage disease IXB IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Glycogen storage disease IXb PMID:25741868|PMID:28492532 10052728 CV195234 NM_000388.4(CASR):c.2901C>A (p.Ile967=) variant DOID:0060699 familial hypocalciuric hypercalcemia IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis PMID:28492532 10052728 CV195234 NM_000388.4(CASR):c.2901C>A (p.Ile967=) variant DOID:0090107 autosomal dominant hypocalcemia 1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Autosomal dominant hypocalcemia 1 PMID:28492532 10052728 CV195234 NM_000388.4(CASR):c.2901C>A (p.Ile967=) variant DOID:11202 primary hyperparathyroidism IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Familial benign hypercalcemia PMID:28492532 10052730 CV195236 NM_000391.4(TPP1):c.542C>T (p.Ser181Phe) variant DOID:0080059 autosomal recessive spinocerebellar ataxia 7 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: TPP1-related condition PMID:25741868|PMID:26467025|PMID:28492532 10052730 CV195236 NM_000391.4(TPP1):c.542C>T (p.Ser181Phe) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 10052731 CV195237 NM_000391.4(TPP1):c.523C>T (p.Arg175Cys) variant DOID:0110726 neuronal ceroid lipofuscinosis 2 IAGP D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Ceroid lipofuscinosis neuronal 2 PMID:28492532|PMID:29056246 10052732 CV195239 NM_001384910.1(GUCA1A):c.526C>T (p.Leu176Phe) variant DOID:0080314 cone-rod dystrophy 14 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Cone dystrophy 3 PMID:25741868|PMID:26766544|PMID:28025326|PMID:28492532|PMID:29555955|PMID:32531858 10052732 CV195239 NM_001384910.1(GUCA1A):c.526C>T (p.Leu176Phe) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:26766544|PMID:28025326|PMID:28492532|PMID:29555955|PMID:32531858 10052733 CV195241 NM_001278116.2(L1CAM):c.591T>C (p.Asn197=) variant DOID:607 paraplegia IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:10797421|PMID:28492532 10052734 CV195242 NM_001278116.2(L1CAM):c.603C>T (p.Ser201=) variant DOID:607 paraplegia IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:28492532 10052736 CV195246 NM_000451.4(SHOX):c.870G>A (p.Leu290=) variant DOID:65 connective tissue disease IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25659810|PMID:25741868|PMID:26467025 10052738 CV195251 NM_000540.3(RYR1):c.526G>A (p.Glu176Lys) variant DOID:0080102 congenital myopathy 4A IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion PMID:21118704|PMID:25741868|PMID:28326467|PMID:28492532|PMID:29635721|PMID:30236257|PMID:33037202 10052738 CV195251 NM_000540.3(RYR1):c.526G>A (p.Glu176Lys) variant DOID:0080991 congenital myopathy 1B IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Minicore myopathy PMID:21118704|PMID:25741868|PMID:28326467|PMID:28492532|PMID:29635721|PMID:30236257|PMID:33037202 10052738 CV195251 NM_000540.3(RYR1):c.526G>A (p.Glu176Lys) variant DOID:3529 congenital myopathy 1A IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Shy-Magee syndrome PMID:21118704|PMID:25741868|PMID:28326467|PMID:28492532|PMID:29635721|PMID:30236257|PMID:33037202 10052738 CV195251 NM_000540.3(RYR1):c.526G>A (p.Glu176Lys) variant DOID:422 congenital structural myopathy IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy PMID:21118704|PMID:25741868|PMID:28326467|PMID:28492532|PMID:29635721|PMID:30236257|PMID:33037202 10052738 CV195251 NM_000540.3(RYR1):c.526G>A (p.Glu176Lys) variant DOID:8545 malignant hyperthermia IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Malignant hyperpyrexia PMID:21118704|PMID:25741868|PMID:28326467|PMID:28492532|PMID:29635721|PMID:30236257|PMID:33037202 10052738 CV195251 NM_000540.3(RYR1):c.526G>A (p.Glu176Lys) variant DOID:9005320 Malignant Fever IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Pharmacogenic myopathy PMID:21118704|PMID:25741868|PMID:28326467|PMID:28492532|PMID:29635721|PMID:30236257|PMID:33037202 10052740 CV195253 NM_000543.5(SMPD1):c.1598C>T (p.Pro533Leu) variant DOID:0070111 Niemann-Pick disease type A IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type A PMID:23356216|PMID:23871123|PMID:25741868|PMID:26320887|PMID:26377108|PMID:27814975|PMID:28492532 10052740 CV195253 NM_000543.5(SMPD1):c.1598C>T (p.Pro533Leu) variant DOID:0070112 Niemann-Pick disease type B IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease, type B PMID:23356216|PMID:23871123|PMID:25741868|PMID:26320887|PMID:26377108|PMID:27814975|PMID:28492532 10052741 CV195255 NM_000543.5(SMPD1):c.1550A>T (p.Glu517Val) variant DOID:0070111 Niemann-Pick disease type A IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis PMID:12369017|PMID:23430949|PMID:24767253|PMID:25741868|PMID:25933391|PMID:26049896|PMID:26499107|PMID:28492532|PMID:29140481|PMID:30788890|PMID:31122880|PMID:35747619 10052741 CV195255 NM_000543.5(SMPD1):c.1550A>T (p.Glu517Val) variant DOID:0070112 Niemann-Pick disease type B IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis PMID:12369017|PMID:23430949|PMID:24767253|PMID:25741868|PMID:25933391|PMID:26049896|PMID:26499107|PMID:28492532|PMID:29140481|PMID:30788890|PMID:31122880|PMID:35747619 10052741 CV195255 NM_000543.5(SMPD1):c.1550A>T (p.Glu517Val) variant DOID:14504 Niemann-Pick disease IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Niemann-Pick disease PMID:12369017|PMID:23430949|PMID:24767253|PMID:25741868|PMID:25933391|PMID:26049896|PMID:26499107|PMID:28492532|PMID:29140481|PMID:30788890|PMID:31122880|PMID:35747619 10052742 CV195257 NM_000546.6(TP53):c.560-9T>A variant DOID:0111503 Li-Fraumeni syndrome 1 IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome 1 PMID:25741868|PMID:26467025|PMID:28492532 10052742 CV195257 NM_000546.6(TP53):c.560-9T>A variant DOID:3012 Li-Fraumeni syndrome IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:25741868|PMID:26467025|PMID:28492532 10052742 CV195257 NM_000546.6(TP53):c.560-9T>A variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:26467025|PMID:28492532 10052743 CV195258 NM_000548.5(TSC2):c.573C>G (p.Leu191=) variant DOID:0080325 tuberous sclerosis 2 IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:25741868|PMID:28492532 10052743 CV195258 NM_000548.5(TSC2):c.573C>G (p.Leu191=) variant DOID:13515 tuberous sclerosis IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis syndrome PMID:25741868|PMID:28492532 10052743 CV195258 NM_000548.5(TSC2):c.573C>G (p.Leu191=) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532 10052744 CV195259 NM_000548.5(TSC2):c.493C>T (p.Leu165=) variant DOID:0080325 tuberous sclerosis 2 IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis 2 PMID:25741868|PMID:28492532 10052744 CV195259 NM_000548.5(TSC2):c.493C>T (p.Leu165=) variant DOID:13515 tuberous sclerosis IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Tuberous sclerosis syndrome PMID:25741868|PMID:28492532 10052744 CV195259 NM_000548.5(TSC2):c.493C>T (p.Leu165=) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532 10052746 CV195263 NM_000742.4(CHRNA2):c.990G>A (p.Glu330=) variant DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy PMID:28492532 10052748 CV195265 NM_000823.4(GHRHR):c.489C>T (p.Tyr163=) variant DOID:0060874 isolated growth hormone deficiency type IB IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Isolated growth hormone deficiency type IB PMID:19622623|PMID:25541890|PMID:25741868|PMID:28492532 10052749 CV195271 NM_000157.4(GBA1):c.485T>C (p.Met162Thr) variant DOID:1926 Gaucher's disease IAGP D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Gaucher disease PMID:14757438|PMID:29471591|PMID:34134921 10052750 CV195273 NM_001017420.3(ESCO2):c.1031A>C (p.Gln344Pro) variant DOID:5325 Roberts syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Roberts-SC phocomelia syndrome PMID:28492532 10052750 CV195273 NM_001017420.3(ESCO2):c.1031A>C (p.Gln344Pro) variant DOID:630 genetic disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10052751 CV195274 NM_201548.5(CERKL):c.820+9G>A variant DOID:0110368 retinitis pigmentosa 26 IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 26 PMID:28492532 10052751 CV195274 NM_201548.5(CERKL):c.820+9G>A variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive PMID:28492532 10052752 CV195275 NM_001034850.3(RETREG1):c.750G>T (p.Leu250=) variant DOID:0070150 hereditary sensory and autonomic neuropathy type 2B IAGP D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: RETREG1-related condition PMID:28492532 10052752 CV195275 NM_001034850.3(RETREG1):c.750G>T (p.Leu250=) variant DOID:630 genetic disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10052753 CV195276 NM_001360016.2(G6PD):c.486-14C>T variant DOID:13628 favism IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:28492532 10052754 CV195282 NM_001611.5(ACP5):c.543C>A (p.Ala181=) variant DOID:9003917 Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Spondyloenchondrodysplasia with immune dysregulation PMID:28492532 10052756 CV195284 NM_001134363.3(RBM20):c.1602C>T (p.Asp534=) variant DOID:0110447 dilated cardiomyopathy 1DD IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1DD PMID:24033266|PMID:25741868|PMID:28492532 10052759 CV195288 NM_001182.5(ALDH7A1):c.577G>A (p.Ala193Thr) variant DOID:0080768 pyridoxine-dependent epilepsy IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Pyridoxine-dependent epilepsy PMID:25741868|PMID:28492532 10052762 CV195292 NM_001360.3(DHCR7):c.582C>T (p.Phe194=) variant DOID:14692 Smith-Lemli-Opitz syndrome IAGP D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Smith-Lemli-Opitz syndrome PMID:25741868|PMID:28492532 10052763 CV195294 NM_001110556.2(FLNA):c.901C>T (p.Arg301Trp) variant DOID:0050454 periventricular nodular heterotopia IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant PMID:25741868|PMID:28492532|PMID:30712057 10052763 CV195294 NM_001110556.2(FLNA):c.901C>T (p.Arg301Trp) variant DOID:0080681 X-linked chronic idiopathic intestinal pseudo-obstruction IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: CIIP X-linked PMID:25741868|PMID:28492532|PMID:30712057 10052763 CV195294 NM_001110556.2(FLNA):c.901C>T (p.Arg301Trp) variant DOID:0111765 X-linked cardiac valvular dysplasia IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Myxomatous valvular dystrophy, X-linked PMID:25741868|PMID:28492532|PMID:30712057 10052763 CV195294 NM_001110556.2(FLNA):c.901C>T (p.Arg301Trp) variant DOID:0111783 otopalatodigital syndrome type 1 IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: OPD syndrome 1 PMID:25741868|PMID:28492532|PMID:30712057 10052763 CV195294 NM_001110556.2(FLNA):c.901C>T (p.Arg301Trp) variant DOID:0111784 otopalatodigital syndrome type 2 IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Faciopalatoosseous syndrome PMID:25741868|PMID:28492532|PMID:30712057 10052763 CV195294 NM_001110556.2(FLNA):c.901C>T (p.Arg301Trp) variant DOID:0111785 frontometaphyseal dysplasia IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Frontometaphyseal dysplasia PMID:25741868|PMID:28492532|PMID:30712057 10052763 CV195294 NM_001110556.2(FLNA):c.901C>T (p.Arg301Trp) variant DOID:0111786 frontometaphyseal dysplasia 1 IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Frontometaphyseal dysplasia 1 PMID:25741868|PMID:28492532|PMID:30712057 10052763 CV195294 NM_001110556.2(FLNA):c.901C>T (p.Arg301Trp) variant DOID:0111788 Melnick-Needles syndrome IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles PMID:25741868|PMID:28492532|PMID:30712057 10052763 CV195294 NM_001110556.2(FLNA):c.901C>T (p.Arg301Trp) variant DOID:0112149 terminal osseous dysplasia IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Terminal osseous dysplasia-pigmentary defects syndrome PMID:25741868|PMID:28492532|PMID:30712057 10052763 CV195294 NM_001110556.2(FLNA):c.901C>T (p.Arg301Trp) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532|PMID:30712057 10052763 CV195294 NM_001110556.2(FLNA):c.901C>T (p.Arg301Trp) variant DOID:9002387 FG Syndrome 2 IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: FG syndrome 2 PMID:25741868|PMID:28492532|PMID:30712057 10052763 CV195294 NM_001110556.2(FLNA):c.901C>T (p.Arg301Trp) variant DOID:9005082 Periventricular Nodular Heterotopia 4 IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: PERIVENTRICULAR NODULAR HETEROTOPIA 4 PMID:25741868|PMID:28492532|PMID:30712057 10052764 CV195295 NM_001482.3(GATM):c.844C>T (p.Arg282Cys) variant DOID:0050712 AGAT deficiency IAGP D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency PMID:28492532 10052769 CV195304 NM_002180.3(IGHMBP2):c.855G>A (p.Ala285=) variant DOID:0111064 autosomal recessive distal hereditary motor neuronopathy 1 IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy, distal, autosomal recessive, 1 PMID:25741868|PMID:28492532 10052769 CV195304 NM_002180.3(IGHMBP2):c.855G>A (p.Ala285=) variant DOID:10595 Charcot-Marie-Tooth disease IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:25741868|PMID:28492532 10052769 CV195304 NM_002180.3(IGHMBP2):c.855G>A (p.Ala285=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10052770 CV195305 NM_002180.3(IGHMBP2):c.808C>T (p.Arg270Cys) variant DOID:0111064 autosomal recessive distal hereditary motor neuronopathy 1 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Spinal muscular atrophy, distal, autosomal recessive, 1 PMID:25741868|PMID:28492532 10052771 CV195307 NM_002180.3(IGHMBP2):c.832C>G (p.His278Asp) variant DOID:0111064 autosomal recessive distal hereditary motor neuronopathy 1 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 1 PMID:25741868|PMID:28492532 10052771 CV195307 NM_002180.3(IGHMBP2):c.832C>G (p.His278Asp) variant DOID:630 genetic disease IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10052772 CV195308 NM_002206.3(ITGA7):c.892C>T (p.Arg298Cys) variant DOID:0110639 congenital muscular dystrophy due to integrin alpha-7 deficiency IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy due to integrin alpha-7 deficiency PMID:25741868|PMID:28492532 10052775 CV195312 NM_002693.3(POLG):c.1174C>G (p.Leu392Val) variant DOID:0080119 mitochondrial DNA depletion syndrome 1 IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: MNGIE, TYMP-RELATED PMID:17846414|PMID:18546365|PMID:20434700|PMID:21880868|PMID:23251356|PMID:25118206|PMID:25462018|PMID:25741868|PMID:26467025|PMID:27119776|PMID:28444220|PMID:28492532|PMID:29341116|PMID:31669236 10052775 CV195312 NM_002693.3(POLG):c.1174C>G (p.Leu392Val) variant DOID:0080122 Alpers-Huttenlocher syndrome IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy PMID:17846414|PMID:18546365|PMID:20434700|PMID:21880868|PMID:23251356|PMID:25118206|PMID:25462018|PMID:25741868|PMID:26467025|PMID:27119776|PMID:28444220|PMID:28492532|PMID:29341116|PMID:31669236 10052775 CV195312 NM_002693.3(POLG):c.1174C>G (p.Leu392Val) variant DOID:0080123 mitochondrial DNA depletion syndrome 4B IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: MNGIE, POLG-RELATED PMID:17846414|PMID:18546365|PMID:20434700|PMID:21880868|PMID:23251356|PMID:25118206|PMID:25462018|PMID:25741868|PMID:26467025|PMID:27119776|PMID:28444220|PMID:28492532|PMID:29341116|PMID:31669236 10052775 CV195312 NM_002693.3(POLG):c.1174C>G (p.Leu392Val) variant DOID:0080127 mitochondrial DNA depletion syndrome 8A IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION PMID:17846414|PMID:18546365|PMID:20434700|PMID:21880868|PMID:23251356|PMID:25118206|PMID:25462018|PMID:25741868|PMID:26467025|PMID:27119776|PMID:28444220|PMID:28492532|PMID:29341116|PMID:31669236 10052775 CV195312 NM_002693.3(POLG):c.1174C>G (p.Leu392Val) variant DOID:0111276 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: EPILEPSY, PROGRESSIVE MYOCLONIC, 5 PMID:17846414|PMID:18546365|PMID:20434700|PMID:21880868|PMID:23251356|PMID:25118206|PMID:25462018|PMID:25741868|PMID:26467025|PMID:27119776|PMID:28444220|PMID:28492532|PMID:29341116|PMID:31669236 10052775 CV195312 NM_002693.3(POLG):c.1174C>G (p.Leu392Val) variant DOID:0111521 autosomal dominant progressive external ophthalmoplegia 1 IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1 PMID:17846414|PMID:18546365|PMID:20434700|PMID:21880868|PMID:23251356|PMID:25118206|PMID:25462018|PMID:25741868|PMID:26467025|PMID:27119776|PMID:28444220|PMID:28492532|PMID:29341116|PMID:31669236 10052775 CV195312 NM_002693.3(POLG):c.1174C>G (p.Leu392Val) variant DOID:0111522 autosomal recessive progressive external ophthalmoplegia 1 IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1 PMID:17846414|PMID:18546365|PMID:20434700|PMID:21880868|PMID:23251356|PMID:25118206|PMID:25462018|PMID:25741868|PMID:26467025|PMID:27119776|PMID:28444220|PMID:28492532|PMID:29341116|PMID:31669236 10052775 CV195312 NM_002693.3(POLG):c.1174C>G (p.Leu392Val) variant DOID:2476 hereditary spastic paraplegia IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:17846414|PMID:18546365|PMID:20434700|PMID:21880868|PMID:23251356|PMID:25118206|PMID:25462018|PMID:25741868|PMID:26467025|PMID:27119776|PMID:28444220|PMID:28492532|PMID:29341116|PMID:31669236 10052775 CV195312 NM_002693.3(POLG):c.1174C>G (p.Leu392Val) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17846414|PMID:18546365|PMID:20434700|PMID:21880868|PMID:23251356|PMID:25118206|PMID:25462018|PMID:25741868|PMID:26467025|PMID:27119776|PMID:28444220|PMID:28492532|PMID:29341116|PMID:31669236 10052775 CV195312 NM_002693.3(POLG):c.1174C>G (p.Leu392Val) variant DOID:9001263 Mitochondrial DNA Depletion Syndrome, MNGIE Type IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION PMID:17846414|PMID:18546365|PMID:20434700|PMID:21880868|PMID:23251356|PMID:25118206|PMID:25462018|PMID:25741868|PMID:26467025|PMID:27119776|PMID:28444220|PMID:28492532|PMID:29341116|PMID:31669236 10052775 CV195312 NM_002693.3(POLG):c.1174C>G (p.Leu392Val) variant DOID:9008631 progressive myoclonus epilepsy 5 IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5 PMID:17846414|PMID:18546365|PMID:20434700|PMID:21880868|PMID:23251356|PMID:25118206|PMID:25462018|PMID:25741868|PMID:26467025|PMID:27119776|PMID:28444220|PMID:28492532|PMID:29341116|PMID:31669236 10052776 CV195313 NM_001365536.1(SCN9A):c.688+9T>C variant DOID:0050548 hereditary sensory neuropathy IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE PMID:28492532 10052776 CV195313 NM_001365536.1(SCN9A):c.688+9T>C variant DOID:0070155 hereditary sensory and autonomic neuropathy type 2A IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIA PMID:28492532 10052776 CV195313 NM_001365536.1(SCN9A):c.688+9T>C variant DOID:0111295 generalized epilepsy with febrile seizures plus 7 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: GEFS+, TYPE 7 PMID:28492532 10052777 CV195314 NM_001365536.1(SCN9A):c.684C>G (p.Ile228Met) variant DOID:0050548 hereditary sensory neuropathy IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE PMID:19763161|PMID:21698661|PMID:22136189|PMID:23280954|PMID:25741868|PMID:25993546|PMID:26264438|PMID:26467025|PMID:26675522|PMID:26920677|PMID:28492532|PMID:29911575|PMID:30316835|PMID:30672368|PMID:37003485|PMID:39000354 10052777 CV195314 NM_001365536.1(SCN9A):c.684C>G (p.Ile228Met) variant DOID:0070155 hereditary sensory and autonomic neuropathy type 2A IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A PMID:19763161|PMID:21698661|PMID:22136189|PMID:23280954|PMID:25741868|PMID:25993546|PMID:26264438|PMID:26467025|PMID:26675522|PMID:26920677|PMID:28492532|PMID:29911575|PMID:30316835|PMID:30672368|PMID:37003485|PMID:39000354 10052777 CV195314 NM_001365536.1(SCN9A):c.684C>G (p.Ile228Met) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: SEVERE MYOCLONIC EPILEPSY OF INFANCY PMID:19763161|PMID:21698661|PMID:22136189|PMID:23280954|PMID:25741868|PMID:25993546|PMID:26264438|PMID:26467025|PMID:26675522|PMID:26920677|PMID:28492532|PMID:29911575|PMID:30316835|PMID:30672368|PMID:37003485|PMID:39000354 10052777 CV195314 NM_001365536.1(SCN9A):c.684C>G (p.Ile228Met) variant DOID:0111295 generalized epilepsy with febrile seizures plus 7 IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 7 PMID:19763161|PMID:21698661|PMID:22136189|PMID:23280954|PMID:25741868|PMID:25993546|PMID:26264438|PMID:26467025|PMID:26675522|PMID:26920677|PMID:28492532|PMID:29911575|PMID:30316835|PMID:30672368|PMID:37003485|PMID:39000354 10052777 CV195314 NM_001365536.1(SCN9A):c.684C>G (p.Ile228Met) variant DOID:0111537 paroxysmal extreme pain disorder IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Paroxysmal extreme pain disorder PMID:19763161|PMID:21698661|PMID:22136189|PMID:23280954|PMID:25741868|PMID:25993546|PMID:26264438|PMID:26467025|PMID:26675522|PMID:26920677|PMID:28492532|PMID:29911575|PMID:30316835|PMID:30672368|PMID:37003485|PMID:39000354 10052777 CV195314 NM_001365536.1(SCN9A):c.684C>G (p.Ile228Met) variant DOID:308 early myoclonic encephalopathy IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Early myoclonic encephalopathy PMID:19763161|PMID:21698661|PMID:22136189|PMID:23280954|PMID:25741868|PMID:25993546|PMID:26264438|PMID:26467025|PMID:26675522|PMID:26920677|PMID:28492532|PMID:29911575|PMID:30316835|PMID:30672368|PMID:37003485|PMID:39000354 10052777 CV195314 NM_001365536.1(SCN9A):c.684C>G (p.Ile228Met) variant DOID:630 genetic disease IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19763161|PMID:21698661|PMID:22136189|PMID:23280954|PMID:25741868|PMID:25993546|PMID:26264438|PMID:26467025|PMID:26675522|PMID:26920677|PMID:28492532|PMID:29911575|PMID:30316835|PMID:30672368|PMID:37003485|PMID:39000354 10052777 CV195314 NM_001365536.1(SCN9A):c.684C>G (p.Ile228Met) variant DOID:9008324 Congenital Indifference to Pain, Autosomal Recessive IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: CONGENITAL ANALGESIA, AUTOSOMAL RECESSIVE PMID:19763161|PMID:21698661|PMID:22136189|PMID:23280954|PMID:25741868|PMID:25993546|PMID:26264438|PMID:26467025|PMID:26675522|PMID:26920677|PMID:28492532|PMID:29911575|PMID:30316835|PMID:30672368|PMID:37003485|PMID:39000354 10052777 CV195314 NM_001365536.1(SCN9A):c.684C>G (p.Ile228Met) variant DOID:9008482 Congenital Pain Insensitivity IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Insensitivity to pain, channelopathy-associated PMID:19763161|PMID:21698661|PMID:22136189|PMID:23280954|PMID:25741868|PMID:25993546|PMID:26264438|PMID:26467025|PMID:26675522|PMID:26920677|PMID:28492532|PMID:29911575|PMID:30316835|PMID:30672368|PMID:37003485|PMID:39000354 10052777 CV195314 NM_001365536.1(SCN9A):c.684C>G (p.Ile228Met) variant DOID:9240 erythromelalgia IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Primary erythromelalgia PMID:19763161|PMID:21698661|PMID:22136189|PMID:23280954|PMID:25741868|PMID:25993546|PMID:26264438|PMID:26467025|PMID:26675522|PMID:26920677|PMID:28492532|PMID:29911575|PMID:30316835|PMID:30672368|PMID:37003485|PMID:39000354 10052778 CV195315 NM_003001.5(SDHC):c.420A>G (p.Gly140=) variant DOID:0050773 paraganglioma IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas PMID:25741868|PMID:28492532 10052778 CV195315 NM_003001.5(SDHC):c.420A>G (p.Gly140=) variant DOID:0061218 pheochromocytoma/paraganglioma syndrome 3 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Glomus tumors, familial, 3 PMID:25741868|PMID:28492532 10052778 CV195315 NM_003001.5(SDHC):c.420A>G (p.Gly140=) variant DOID:9005607 Hereditary Paraganglioma-Pheochromocytoma Syndromes IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes PMID:25741868|PMID:28492532 10052778 CV195315 NM_003001.5(SDHC):c.420A>G (p.Gly140=) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532 10052778 CV195315 NM_003001.5(SDHC):c.420A>G (p.Gly140=) variant DOID:9253 gastrointestinal stromal tumor IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Gastrointestinal stromal tumor, somatic PMID:25741868|PMID:28492532 10052779 CV195316 NM_003036.4(SKI):c.1890C>T (p.Ala630=) variant DOID:0060481 Goldberg-Shprintzen syndrome IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:25741868|PMID:28492532 10052779 CV195316 NM_003036.4(SKI):c.1890C>T (p.Ala630=) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10052779 CV195316 NM_003036.4(SKI):c.1890C>T (p.Ala630=) variant DOID:9007185 Shprintzen-Goldberg Craniosynostosis IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome PMID:25741868|PMID:28492532 10052781 CV195325 NM_004287.5(GOSR2):c.478-4C>G variant DOID:891 progressive myoclonus epilepsy IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:28492532 10052782 CV195326 NM_004369.4(COL6A3):c.1948G>A (p.Val650Ile) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:28492532 10052783 CV195327 NM_004369.4(COL6A3):c.2292C>T (p.Asn764=) variant DOID:0050663 Bethlem myopathy IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Collagen VI-related myopathy PMID:25741868|PMID:28492532 10052783 CV195327 NM_004369.4(COL6A3):c.2292C>T (p.Asn764=) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:25741868|PMID:28492532 10052784 CV195329 NM_004369.4(COL6A3):c.2444C>A (p.Pro815His) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:25741868|PMID:28492532 10052785 CV195330 NM_004380.3(CREBBP):c.1331-12_1331-9del variant DOID:1933 Rubinstein-Taybi syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Rubinstein-Taybi syndrome PMID:28492532 10052786 CV195334 NM_004484.4(GPC3):c.1398G>A (p.Leu466=) variant DOID:2154 nephroblastoma IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Wilms tumor 1 PMID:28492532 10052787 CV195335 NM_004530.6(MMP2):c.932C>T (p.Thr311Met) variant DOID:630 genetic disease IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10052787 CV195335 NM_004530.6(MMP2):c.932C>T (p.Thr311Met) variant DOID:9006569 Osteolysis Hereditary Multicentric IAGP D RGD:8554872 20250729 ClinVar ClinVar Annotator: match by term: Multicentric osteolysis nodulosis arthropathy spectrum PMID:28492532 10052788 CV195337 NM_004560.4(ROR2):c.730C>T (p.Arg244Trp) variant DOID:0060764 autosomal recessive Robinow syndrome IAGP D RGD:8554872 20211109 ClinVar ClinVar Annotator: match by term: Robinow syndrome, autosomal recessive PMID:17665217|PMID:25741868|PMID:28492532 10052788 CV195337 NM_004560.4(ROR2):c.730C>T (p.Arg244Trp) variant DOID:0110969 brachydactyly type B1 IAGP D RGD:8554872 20211109 ClinVar ClinVar Annotator: match by term: Brachydactyly type B1 PMID:17665217|PMID:25741868|PMID:28492532 10052790 CV195340 NM_004994.3(MMP9):c.886G>A (p.Gly296Ser) variant DOID:9000806 Metaphyseal Anadysplasia 2 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Metaphyseal anadysplasia 2 PMID:28492532 10052791 CV195341 NM_005055.5(RAPSN):c.957G>C (p.Val319=) variant DOID:0111377 fetal akinesia deformation sequence syndrome 1 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Pena-Shokeir syndrome type I PMID:28492532 10052793 CV195344 NM_005477.3(HCN4):c.1915G>A (p.Val639Met) variant DOID:0110225 Brugada syndrome 8 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Brugada syndrome 8 PMID:26467025|PMID:28492532|PMID:31731876|PMID:35932045 10052795 CV195346 NM_153676.4(USH1C):c.513C>T (p.Pro171=) variant DOID:0110830 Usher syndrome type 1C IAGP D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Usher syndrome, type 1C PMID:28492532 10052797 CV195348 NM_005902.4(SMAD3):c.802C>T (p.Arg268Cys) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10092624|PMID:21949838|PMID:23139211|PMID:25741868|PMID:25944730|PMID:26854089|PMID:28492532|PMID:29907982|PMID:32123317|PMID:38538566 10052798 CV195349 NM_005908.4(MANBA):c.708G>A (p.Glu236=) variant DOID:3633 beta-mannosidosis IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Beta-D-mannosidosis PMID:28492532 10052799 CV195351 NM_006005.3(WFS1):c.683G>A (p.Arg228His) variant DOID:0080584 autosomal dominant Wolfram syndrome IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: HEARING LOSS, PROGRESSIVE, WITH OPTIC ATROPHY AND/OR IMPAIRED GLUCOSE REGULATION PMID:24033266|PMID:25133958|PMID:25741868|PMID:28432734|PMID:28492532 10052799 CV195351 NM_006005.3(WFS1):c.683G>A (p.Arg228His) variant DOID:0110241 cataract 41 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: CATARACT 41, CONGENITAL NUCLEAR TYPE PMID:24033266|PMID:25133958|PMID:25741868|PMID:28432734|PMID:28492532 10052799 CV195351 NM_006005.3(WFS1):c.683G>A (p.Arg228His) variant DOID:0110584 autosomal dominant nonsyndromic deafness 6 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 6 PMID:24033266|PMID:25133958|PMID:25741868|PMID:28432734|PMID:28492532 10052799 CV195351 NM_006005.3(WFS1):c.683G>A (p.Arg228His) variant DOID:0110629 Wolfram syndrome 1 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: WOLFRAM SYNDROME 1 PMID:24033266|PMID:25133958|PMID:25741868|PMID:28432734|PMID:28492532 10052799 CV195351 NM_006005.3(WFS1):c.683G>A (p.Arg228His) variant DOID:0111099 maturity-onset diabetes of the young type 1 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:24033266|PMID:25133958|PMID:25741868|PMID:28432734|PMID:28492532 10052799 CV195351 NM_006005.3(WFS1):c.683G>A (p.Arg228His) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:24033266|PMID:25133958|PMID:25741868|PMID:28432734|PMID:28492532 10052799 CV195351 NM_006005.3(WFS1):c.683G>A (p.Arg228His) variant DOID:9352 type 2 diabetes mellitus IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:24033266|PMID:25133958|PMID:25741868|PMID:28432734|PMID:28492532 10052801 CV195353 NM_006214.4(PHYH):c.678+5G>T variant DOID:10582 Refsum disease IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Phytanic acid storage disease PMID:14974078|PMID:20818383|PMID:25741868|PMID:28041643|PMID:28492532|PMID:32581362|PMID:34426522 10052801 CV195353 NM_006214.4(PHYH):c.678+5G>T variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:14974078|PMID:20818383|PMID:25741868|PMID:28041643|PMID:28492532|PMID:32581362|PMID:34426522 10052801 CV195353 NM_006214.4(PHYH):c.678+5G>T variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:14974078|PMID:20818383|PMID:25741868|PMID:28041643|PMID:28492532|PMID:32581362|PMID:34426522 10052802 CV195354 NM_006279.5(ST3GAL3):c.362G>A (p.Arg121Gln) variant DOID:0080414 developmental and epileptic encephalopathy 15 IAGP D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 15 PMID:25741868|PMID:28492532 10052802 CV195354 NM_006279.5(ST3GAL3):c.362G>A (p.Arg121Gln) variant DOID:0081180 autosomal recessive intellectual developmental disorder 12 IAGP D RGD:8554872 20220503 ClinVar ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 12 PMID:25741868|PMID:28492532 10052802 CV195354 NM_006279.5(ST3GAL3):c.362G>A (p.Arg121Gln) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:25741868|PMID:28492532 10052802 CV195354 NM_006279.5(ST3GAL3):c.362G>A (p.Arg121Gln) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10052802 CV195354 NM_006279.5(ST3GAL3):c.362G>A (p.Arg121Gln) variant DOID:9005154 Myoclonic Epilepsies IAGP D RGD:8554872 20211214 ClinVar ClinVar Annotator: match by term: Generalized myoclonic seizures PMID:25741868|PMID:28492532 10052803 CV195355 NM_006279.5(ST3GAL3):c.303G>T (p.Arg101=) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 10052803 CV195355 NM_006279.5(ST3GAL3):c.303G>T (p.Arg101=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10052804 CV195356 NM_006516.4(SLC2A1):c.790C>T (p.Arg264Cys) variant DOID:0070560 glucose transporter type 1 deficiency syndrome IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: GLUT1 deficiency syndrome 1, autosomal recessive PMID:25741868|PMID:28492532 10052804 CV195356 NM_006516.4(SLC2A1):c.790C>T (p.Arg264Cys) variant DOID:0070561 glucose transporter type 1 deficiency syndrome 1 IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: GLUT1 deficiency syndrome 1 PMID:25741868|PMID:28492532 10052804 CV195356 NM_006516.4(SLC2A1):c.790C>T (p.Arg264Cys) variant DOID:0090044 dystonia 9 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: CHOREOATHETOSIS, KINESIGENIC, WITH EPISODIC ATAXIA AND SPASTICITY PMID:25741868|PMID:28492532 10052804 CV195356 NM_006516.4(SLC2A1):c.790C>T (p.Arg264Cys) variant DOID:0090045 glucose transporter type 1 deficiency syndrome 2 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Paroxysmal exercise-induced dystonia PMID:25741868|PMID:28492532 10052804 CV195356 NM_006516.4(SLC2A1):c.790C>T (p.Arg264Cys) variant DOID:630 genetic disease IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10052804 CV195356 NM_006516.4(SLC2A1):c.790C>T (p.Arg264Cys) variant DOID:9002035 Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: GLUT1 DEFICIENCY SYNDROME WITH PSEUDOHYPERKALEMIA AND HEMOLYSIS PMID:25741868|PMID:28492532 10052804 CV195356 NM_006516.4(SLC2A1):c.790C>T (p.Arg264Cys) variant DOID:9009304 Idiopathic Generalized Epilepsy 12 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 12 PMID:25741868|PMID:28492532 10052805 CV195357 NM_006517.5(SLC16A2):c.1468G>A (p.Gly490Arg) variant DOID:0050631 Allan-Herndon-Dudley syndrome IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Allan-Herndon-Dudley syndrome PMID:18636565|PMID:27805744 10052805 CV195357 NM_006517.5(SLC16A2):c.1468G>A (p.Gly490Arg) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18636565|PMID:27805744 10052806 CV195358 NM_206965.2(FTCD):c.677T>C (p.Leu226Pro) variant DOID:0111679 glutamate formiminotransferase deficiency IAGP D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY PMID:28492532 10052806 CV195358 NM_206965.2(FTCD):c.677T>C (p.Leu226Pro) variant DOID:630 genetic disease IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10052807 CV195359 NM_007254.4(PNKP):c.625G>A (p.Glu209Lys) variant DOID:0080459 developmental and epileptic encephalopathy 12 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:25741868|PMID:28492532 10052807 CV195359 NM_007254.4(PNKP):c.625G>A (p.Glu209Lys) variant DOID:0110179 Charcot-Marie-Tooth disease type 2B2 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B2 PMID:25741868|PMID:28492532 10052807 CV195359 NM_007254.4(PNKP):c.625G>A (p.Glu209Lys) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10052808 CV195360 NM_007254.4(PNKP):c.602G>A (p.Arg201His) variant DOID:0080459 developmental and epileptic encephalopathy 12 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12 PMID:28492532 10052808 CV195360 NM_007254.4(PNKP):c.602G>A (p.Arg201His) variant DOID:630 genetic disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10052809 CV195361 NM_007294.4(BRCA1):c.439T>C (p.Leu147=) variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome PMID:25741868|PMID:28492532 10052809 CV195361 NM_007294.4(BRCA1):c.439T>C (p.Leu147=) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532 10052811 CV195365 NM_014141.6(CNTNAP2):c.847C>T (p.Arg283Cys) variant DOID:0090130 cortical dysplasia-focal epilepsy syndrome IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cortical dysplasia-focal epilepsy syndrome PMID:28492532 10052812 CV195366 NM_014244.5(ADAMTS2):c.1122C>T (p.Ser374=) variant DOID:0080733 Ehlers-Danlos syndrome dermatosparaxis type IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome dermatosparaxis type PMID:28492532 10052813 CV195367 NM_014254.3(RXYLT1):c.*18C>G variant DOID:0111239 congenital muscular dystrophy-dystroglycanopathy type A10 IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 PMID:25741868 10052815 CV195369 NM_014336.5(AIPL1):c.971G>T (p.Arg324Leu) variant DOID:0110332 Leber congenital amaurosis 4 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 4 PMID:21153841|PMID:25741868|PMID:28492532|PMID:3257969 10052815 CV195369 NM_014336.5(AIPL1):c.971G>T (p.Arg324Leu) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:21153841|PMID:25741868|PMID:28492532|PMID:3257969 10052815 CV195369 NM_014336.5(AIPL1):c.971G>T (p.Arg324Leu) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:21153841|PMID:25741868|PMID:28492532|PMID:3257969 10052816 CV195372 NM_178138.6(LHX3):c.929G>C (p.Arg310Pro) variant DOID:0061021 combined pituitary hormone deficiency 3 IAGP D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Winkelman Bethge Pfeiffer syndrome PMID:28492532|PMID:29261175|PMID:30262920|PMID:32870266 10052816 CV195372 NM_178138.6(LHX3):c.929G>C (p.Arg310Pro) variant DOID:630 genetic disease IAGP D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532|PMID:29261175|PMID:30262920|PMID:32870266 10052817 CV195374 NM_014956.5(CEP164):c.457C>T (p.Leu153Phe) variant DOID:0111123 nephronophthisis 15 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Nephronophthisis 15 PMID:28492532 10052821 CV195381 NM_015629.4(PRPF31):c.527+9G>T variant DOID:0110408 retinitis pigmentosa 11 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 11 PMID:28492532 10052821 CV195381 NM_015629.4(PRPF31):c.527+9G>T variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532 10052822 CV195382 NM_015702.3(MMADHC):c.600C>T (p.Leu200=) variant DOID:0050716 methylmalonic aciduria and homocystinuria type cblD IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblD PMID:28492532 10052823 CV195383 NM_017739.4(POMGNT1):c.421-7C>A variant DOID:0050557 congenital muscular dystrophy IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related PMID:26467025|PMID:28492532 10052823 CV195383 NM_017739.4(POMGNT1):c.421-7C>A variant DOID:0050560 Walker-Warburg syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Muscle eye brain disease PMID:26467025|PMID:28492532 10052823 CV195383 NM_017739.4(POMGNT1):c.421-7C>A variant DOID:0110292 autosomal recessive limb-girdle muscular dystrophy type 2O IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 PMID:26467025|PMID:28492532 10052823 CV195383 NM_017739.4(POMGNT1):c.421-7C>A variant DOID:0112378 muscular dystrophy-dystroglycanopathy type B3 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, POMGNT1-RELATED PMID:26467025|PMID:28492532 10052824 CV195384 NM_017780.4(CHD7):c.2436A>T (p.Lys812Asn) variant DOID:0050834 CHARGE syndrome IAGP D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: CHARGE syndrome PMID:22461308|PMID:22539353|PMID:24033266|PMID:25741868|PMID:28492532 10052824 CV195384 NM_017780.4(CHD7):c.2436A>T (p.Lys812Asn) variant DOID:0090084 hypogonadotropic hypogonadism 5 with or without anosmia IAGP D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA PMID:22461308|PMID:22539353|PMID:24033266|PMID:25741868|PMID:28492532 10052824 CV195384 NM_017780.4(CHD7):c.2436A>T (p.Lys812Asn) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:22461308|PMID:22539353|PMID:24033266|PMID:25741868|PMID:28492532 10052824 CV195384 NM_017780.4(CHD7):c.2436A>T (p.Lys812Asn) variant DOID:9004226 Hittner Hirsch Kreh Syndrome IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome PMID:22461308|PMID:22539353|PMID:24033266|PMID:25741868|PMID:28492532 10052825 CV195386 NM_001127649.3(PEX26):c.815-10T>G variant DOID:0080482 peroxisome biogenesis disorder 7A IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 7A (Zellweger) PMID:28492532 10052827 CV195388 NM_018136.5(ASPM):c.2365A>G (p.Ile789Val) variant DOID:0070280 primary autosomal recessive microcephaly 5 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Microcephaly 5, primary, autosomal recessive PMID:25741868|PMID:26467025|PMID:28492532 10052827 CV195388 NM_018136.5(ASPM):c.2365A>G (p.Ile789Val) variant DOID:630 genetic disease IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 10052828 CV195389 NM_001378120.1(MBD5):c.69G>A (p.Val23=) variant DOID:0070031 autosomal dominant intellectual developmental disorder 1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 1 PMID:28492532 10052828 CV195389 NM_001378120.1(MBD5):c.69G>A (p.Val23=) variant DOID:630 genetic disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10052829 CV195390 NM_001378120.1(MBD5):c.8G>T (p.Gly3Val) variant DOID:0070031 autosomal dominant intellectual developmental disorder 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 1 PMID:28492532 10052830 CV195391 NM_018344.6(SLC29A3):c.1146C>T (p.Phe382=) variant DOID:0111278 histiocytosis-lymphadenopathy plus syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Histiocytosis-lymphadenopathy plus syndrome PMID:28492532 10052831 CV195392 NM_018418.5(SPATA7):c.815G>A (p.Arg272Gln) variant DOID:0110331 Leber congenital amaurosis 3 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 3 PMID:28492532 10052831 CV195392 NM_018418.5(SPATA7):c.815G>A (p.Arg272Gln) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive PMID:28492532 10052832 CV195393 NM_018451.5(CPAP):c.1054G>C (p.Glu352Gln) variant DOID:630 genetic disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10052835 CV195397 NM_020184.4(CNNM4):c.2130+5G>A variant DOID:0111404 Jalili syndrome IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Jalili syndrome PMID:17576681|PMID:25741868|PMID:28492532|PMID:30718709|PMID:9536098 10052835 CV195397 NM_020184.4(CNNM4):c.2130+5G>A variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:17576681|PMID:25741868|PMID:28492532|PMID:30718709|PMID:9536098 10052836 CV195400 NM_020549.5(CHAT):c.867G>A (p.Thr289=) variant DOID:0110671 congenital myasthenic syndrome 6 IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Familial infantile myasthenia PMID:28492532 10052840 CV195407 NM_021625.5(TRPV4):c.854-4G>A variant DOID:0050690 brachyolmia IAGP D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Brachyolmia PMID:25741868|PMID:26467025|PMID:28492532 10052840 CV195407 NM_021625.5(TRPV4):c.854-4G>A variant DOID:0110182 Charcot-Marie-Tooth disease axonal type 2C IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2C PMID:25741868|PMID:26467025|PMID:28492532 10052840 CV195407 NM_021625.5(TRPV4):c.854-4G>A variant DOID:0111215 autosomal dominant distal hereditary motor neuronopathy 8 IAGP D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy, congenital nonprogressive PMID:25741868|PMID:26467025|PMID:28492532 10052840 CV195407 NM_021625.5(TRPV4):c.854-4G>A variant DOID:0111514 metatropic dysplasia IAGP D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Metatrophic dysplasia PMID:25741868|PMID:26467025|PMID:28492532 10052840 CV195407 NM_021625.5(TRPV4):c.854-4G>A variant DOID:0111552 scapuloperoneal spinal muscular atrophy IAGP D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Scapuloperoneal spinal muscular atrophy PMID:25741868|PMID:26467025|PMID:28492532 10052840 CV195407 NM_021625.5(TRPV4):c.854-4G>A variant DOID:0111554 spondylometaphyseal dysplasia Kozlowski type IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Spondylometaphyseal dysplasia, Kozlowski type PMID:25741868|PMID:26467025|PMID:28492532 10052840 CV195407 NM_021625.5(TRPV4):c.854-4G>A variant DOID:10595 Charcot-Marie-Tooth disease IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:25741868|PMID:26467025|PMID:28492532 10052840 CV195407 NM_021625.5(TRPV4):c.854-4G>A variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 10052840 CV195407 NM_021625.5(TRPV4):c.854-4G>A variant DOID:65 connective tissue disease IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:26467025|PMID:28492532 10052840 CV195407 NM_021625.5(TRPV4):c.854-4G>A variant DOID:9003559 Brachyolmia Type 3 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Brachyolmia Type 3 PMID:25741868|PMID:26467025|PMID:28492532 10052841 CV195408 NM_001126121.2(SLC25A19):c.590G>T (p.Ser197Ile) variant DOID:9004450 Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration and Progressive Polyneuropathy Type) IAGP D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Striatal necrosis, bilateral, and progressive polyneuropathy PMID:25741868|PMID:28492532 10052841 CV195408 NM_001126121.2(SLC25A19):c.590G>T (p.Ser197Ile) variant DOID:9006375 Amish Lethal Microcephaly IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Amish lethal microcephaly PMID:25741868|PMID:28492532 10052842 CV195410 NM_001126121.2(SLC25A19):c.565G>A (p.Ala189Thr) variant DOID:630 genetic disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10052842 CV195410 NM_001126121.2(SLC25A19):c.565G>A (p.Ala189Thr) variant DOID:9004450 Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration and Progressive Polyneuropathy Type) IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Striatal necrosis, bilateral, and progressive polyneuropathy PMID:25741868|PMID:28492532 10052843 CV195414 NM_022458.4(LMBR1):c.453G>T (p.Leu151Phe) variant DOID:0050603 acheiropody IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Acheiropodia PMID:25741868 10052844 CV195416 NM_024596.5(MCPH1):c.445G>A (p.Val149Ile) variant DOID:0070285 primary autosomal recessive microcephaly 1 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Microcephaly 1, primary, autosomal recessive PMID:28492532 10052846 CV195418 NM_024753.5(TTC21B):c.691A>T (p.Thr231Ser) variant DOID:0050592 asphyxiating thoracic dystrophy IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:21258341|PMID:25741868|PMID:28492532 10052846 CV195418 NM_024753.5(TTC21B):c.691A>T (p.Thr231Ser) variant DOID:0110088 asphyxiating thoracic dystrophy 4 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 4 PMID:21258341|PMID:25741868|PMID:28492532 10052846 CV195418 NM_024753.5(TTC21B):c.691A>T (p.Thr231Ser) variant DOID:0110980 Joubert syndrome 1 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Joubert syndrome 1 PMID:21258341|PMID:25741868|PMID:28492532 10052846 CV195418 NM_024753.5(TTC21B):c.691A>T (p.Thr231Ser) variant DOID:0111119 nephronophthisis 12 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Nephronophthisis 12 PMID:21258341|PMID:25741868|PMID:28492532 10052848 CV195420 NM_024757.5(EHMT1):c.1159C>T (p.Arg387Cys) variant DOID:0060352 Kleefstra syndrome 1 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:28492532 10052849 CV195421 NM_024757.5(EHMT1):c.1008C>A (p.Ser336Arg) variant DOID:0060352 Kleefstra syndrome 1 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:28492532 10052849 CV195421 NM_024757.5(EHMT1):c.1008C>A (p.Ser336Arg) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10052850 CV195422 NM_024809.5(TCTN2):c.720C>G (p.Pro240=) variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:25741868|PMID:28492532 10052850 CV195422 NM_024809.5(TCTN2):c.720C>G (p.Pro240=) variant DOID:0070122 Meckel syndrome 8 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Meckel syndrome type 8 PMID:25741868|PMID:28492532 10052850 CV195422 NM_024809.5(TCTN2):c.720C>G (p.Pro240=) variant DOID:0110993 Joubert syndrome 24 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Joubert syndrome 24 PMID:25741868|PMID:28492532 10052851 CV195425 NM_025114.4(CEP290):c.343A>G (p.Asn115Asp) variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 10052851 CV195425 NM_025114.4(CEP290):c.343A>G (p.Asn115Asp) variant DOID:0070118 Meckel syndrome 4 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 4 PMID:28492532 10052851 CV195425 NM_025114.4(CEP290):c.343A>G (p.Asn115Asp) variant DOID:0110136 Bardet-Biedl syndrome 14 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 14 PMID:28492532 10052851 CV195425 NM_025114.4(CEP290):c.343A>G (p.Asn115Asp) variant DOID:0110291 Leber congenital amaurosis 10 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 10 PMID:28492532 10052851 CV195425 NM_025114.4(CEP290):c.343A>G (p.Asn115Asp) variant DOID:0111000 Joubert syndrome 5 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Joubert syndrome 5 PMID:28492532 10052851 CV195425 NM_025114.4(CEP290):c.343A>G (p.Asn115Asp) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:28492532 10052851 CV195425 NM_025114.4(CEP290):c.343A>G (p.Asn115Asp) variant DOID:9008709 Senior-Loken Syndrome 6 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 6 PMID:28492532 10052852 CV195426 NM_025114.4(CEP290):c.341G>A (p.Arg114His) variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:25741868|PMID:28492532 10052852 CV195426 NM_025114.4(CEP290):c.341G>A (p.Arg114His) variant DOID:0070118 Meckel syndrome 4 IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: CEP290-related disorder PMID:25741868|PMID:28492532 10052852 CV195426 NM_025114.4(CEP290):c.341G>A (p.Arg114His) variant DOID:0110291 Leber congenital amaurosis 10 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 10 PMID:25741868|PMID:28492532 10052852 CV195426 NM_025114.4(CEP290):c.341G>A (p.Arg114His) variant DOID:0111000 Joubert syndrome 5 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Joubert syndrome 5 PMID:25741868|PMID:28492532 10052852 CV195426 NM_025114.4(CEP290):c.341G>A (p.Arg114His) variant DOID:14791 Leber congenital amaurosis IAGP D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:25741868|PMID:28492532 10052852 CV195426 NM_025114.4(CEP290):c.341G>A (p.Arg114His) variant DOID:630 genetic disease IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10052853 CV195427 NM_025193.4(HSD3B7):c.637G>A (p.Gly213Arg) variant DOID:0111071 congenital bile acid synthesis defect 1 IAGP D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: HSD3B7-related condition PMID:25741868|PMID:28492532 10052853 CV195427 NM_025193.4(HSD3B7):c.637G>A (p.Gly213Arg) variant DOID:630 genetic disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10052854 CV195428 NM_025243.4(SLC19A3):c.*8G>A variant DOID:0050659 biotin-responsive basal ganglia disease IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Biotin-responsive basal ganglia disease 10052855 CV195430 NM_030662.4(MAP2K2):c.648C>T (p.Ser216=) variant DOID:0080690 RASopathy IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 10052856 CV195431 NM_031220.4(PITPNM3):c.507C>A (p.Phe169Leu) variant DOID:0111010 cone-rod dystrophy 5 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 5 PMID:28492532 10052857 CV195432 NM_031433.4(MFRP):c.770G>A (p.Arg257His) variant DOID:0060837 isolated microphthalmia 5 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Isolated microphthalmia 5 PMID:25741868|PMID:28492532 10052857 CV195432 NM_031433.4(MFRP):c.770G>A (p.Arg257His) variant DOID:0060869 late-onset retinal degeneration IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Late-onset retinal degeneration PMID:25741868|PMID:28492532 10052857 CV195432 NM_031433.4(MFRP):c.770G>A (p.Arg257His) variant DOID:8466 retinal degeneration IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Retinal degeneration PMID:25741868|PMID:28492532 10052858 CV195433 NM_031471.6(FERMT3):c.708C>T (p.Leu236=) variant DOID:0110912 leukocyte adhesion deficiency 3 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3 PMID:28492532 10052859 CV195434 NM_032578.4(MYPN):c.1293C>A (p.Ile431=) variant DOID:0110445 dilated cardiomyopathy 1KK IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: MYPN-related condition PMID:24033266|PMID:25741868|PMID:28492532 10052861 CV195436 NM_052845.4(MMAB):c.519+10G>A variant DOID:0060743 methylmalonic acidemia cblB type IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Methylmalonic acidemia cblB type PMID:28492532 10052862 CV195437 NM_001177316.2(SLC34A3):c.449-3C>T variant DOID:0050947 hereditary hypophosphatemic rickets with hypercalciuria IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: SLC34A3-related condition PMID:28492532 10052863 CV195438 NM_138694.4(PKHD1):c.400G>A (p.Ala134Thr) variant DOID:0080212 polycystic kidney disease 4 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease 4 PMID:25741868 10052863 CV195438 NM_138694.4(PKHD1):c.400G>A (p.Ala134Thr) variant DOID:0110861 autosomal recessive polycystic kidney disease IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease PMID:25741868 10052864 CV195439 NM_001384474.1(LOXHD1):c.722A>G (p.Asn241Ser) variant DOID:0110525 autosomal recessive nonsyndromic deafness 77 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 77 PMID:24033266|PMID:28492532 10052864 CV195439 NM_001384474.1(LOXHD1):c.722A>G (p.Asn241Ser) variant DOID:630 genetic disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:28492532 10052865 CV195440 NM_001128225.3(SLC39A13):c.646-7T>C variant DOID:0080739 Ehlers-Danlos syndrome spondylodysplastic type 3 IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Spondylocheirodysplasia, Ehlers-Danlos syndrome-like PMID:25741868|PMID:28492532 10052865 CV195440 NM_001128225.3(SLC39A13):c.646-7T>C variant DOID:13359 Ehlers-Danlos syndrome IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:25741868|PMID:28492532 10052867 CV195445 NM_172107.4(KCNQ2):c.841G>A (p.Gly281Arg) variant DOID:0080421 developmental and epileptic encephalopathy 11 IAGP D RGD:8554872 20240625 ClinVar ClinVar Annotator: match by term: Complex neurodevelopmental disorder PMID:24107868|PMID:25590979|PMID:28133863|PMID:28492532|PMID:30109124|PMID:35104249 10052867 CV195445 NM_172107.4(KCNQ2):c.841G>A (p.Gly281Arg) variant DOID:0080462 developmental and epileptic encephalopathy 7 IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 7 PMID:24107868|PMID:25590979|PMID:28133863|PMID:28492532|PMID:30109124|PMID:35104249 10052867 CV195445 NM_172107.4(KCNQ2):c.841G>A (p.Gly281Arg) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24107868|PMID:25590979|PMID:28133863|PMID:28492532|PMID:30109124|PMID:35104249 10052867 CV195445 NM_172107.4(KCNQ2):c.841G>A (p.Gly281Arg) variant DOID:9000419 Benign Familial Neonatal Seizures, 1 IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: KCNQ2-related condition PMID:24107868|PMID:25590979|PMID:28133863|PMID:28492532|PMID:30109124|PMID:35104249 10052869 CV195448 NM_194248.3(OTOF):c.578G>T (p.Arg193Ile) variant DOID:0110535 autosomal recessive nonsyndromic deafness 9 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: OTOF-related condition PMID:24033266|PMID:28492532 10052869 CV195448 NM_194248.3(OTOF):c.578G>T (p.Arg193Ile) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:28492532 10052871 CV195452 NM_001291867.2(NHS):c.1327G>A (p.Gly443Arg) variant DOID:0060599 Nance-Horan syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Nance-Horan syndrome PMID:28492532 10052871 CV195452 NM_001291867.2(NHS):c.1327G>A (p.Gly443Arg) variant DOID:630 genetic disease IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10052872 CV195453 NM_001291867.2(NHS):c.1603G>A (p.Val535Met) variant DOID:0060599 Nance-Horan syndrome IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Nance-Horan syndrome PMID:28492532 10052872 CV195453 NM_001291867.2(NHS):c.1603G>A (p.Val535Met) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10052873 CV195454 NM_001291867.2(NHS):c.3408G>A (p.Thr1136=) variant DOID:0060599 Nance-Horan syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Nance-Horan syndrome PMID:28492532 10052873 CV195454 NM_001291867.2(NHS):c.3408G>A (p.Thr1136=) variant DOID:630 genetic disease IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10052874 CV195455 NM_001291867.2(NHS):c.3310C>T (p.His1104Tyr) variant DOID:0060599 Nance-Horan syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nance-Horan syndrome PMID:25741868|PMID:28492532 10052874 CV195455 NM_001291867.2(NHS):c.3310C>T (p.His1104Tyr) variant DOID:630 genetic disease IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10052875 CV195457 NM_203447.4(DOCK8):c.685G>C (p.Ala229Pro) variant DOID:0080545 hyper IgE syndrome IAGP D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive PMID:28492532 10052875 CV195457 NM_203447.4(DOCK8):c.685G>C (p.Ala229Pro) variant DOID:0080594 hyper IgE recurrent infection syndrome 2 IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE PMID:28492532 10052877 CV195460 NM_213599.3(ANO5):c.295-8dup variant DOID:0111533 gnathodiaphyseal dysplasia IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Gnathodiaphyseal dysplasia PMID:28492532 10052878 CV195461 NM_000426.4(LAMA2):c.8497G>T (p.Asp2833Tyr) variant DOID:0061132 autosomal recessive limb-girdle muscular dystrophy type 23 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, autosomal recessive 23 PMID:25741868|PMID:28492532 10052878 CV195461 NM_000426.4(LAMA2):c.8497G>T (p.Asp2833Tyr) variant DOID:0110636 congenital merosin-deficient muscular dystrophy 1A IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Merosin deficient congenital muscular dystrophy PMID:25741868|PMID:28492532 10052879 CV195463 NM_004006.3(DMD):c.9032C>T (p.Pro3011Leu) variant DOID:11723 Duchenne muscular dystrophy IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:28492532 10052879 CV195463 NM_004006.3(DMD):c.9032C>T (p.Pro3011Leu) variant DOID:9883 Becker muscular dystrophy IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Becker muscular dystrophy PMID:28492532 10052880 CV195464 NM_152564.5(VPS13B):c.11438A>G (p.His3813Arg) variant DOID:0111590 Cohen syndrome IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:25741868|PMID:28492532 10052880 CV195464 NM_152564.5(VPS13B):c.11438A>G (p.His3813Arg) variant DOID:630 genetic disease IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10052881 CV195465 NM_032119.4(ADGRV1):c.12349C>T (p.Arg4117Cys) variant DOID:0110827 Usher syndrome type 2 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2 PMID:25741868|PMID:26467025|PMID:28492532 10052881 CV195465 NM_032119.4(ADGRV1):c.12349C>T (p.Arg4117Cys) variant DOID:0110839 Usher syndrome type 2C IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Usher syndrome, type 2C PMID:25741868|PMID:26467025|PMID:28492532 10052881 CV195465 NM_032119.4(ADGRV1):c.12349C>T (p.Arg4117Cys) variant DOID:0111305 familial febrile seizures 4 IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: ADGRV1-related disorder PMID:25741868|PMID:26467025|PMID:28492532 10052881 CV195465 NM_032119.4(ADGRV1):c.12349C>T (p.Arg4117Cys) variant DOID:630 genetic disease IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 10052883 CV195467 NM_138694.4(PKHD1):c.10036T>C (p.Cys3346Arg) variant DOID:0080212 polycystic kidney disease 4 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease 4 PMID:12846734|PMID:14741187|PMID:15805161|PMID:21493627|PMID:25646624|PMID:25701400|PMID:25741868|PMID:28492532|PMID:33532864|PMID:33716212 10052883 CV195467 NM_138694.4(PKHD1):c.10036T>C (p.Cys3346Arg) variant DOID:0110860 polycystic kidney disease 3 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: PKD3 PMID:12846734|PMID:14741187|PMID:15805161|PMID:21493627|PMID:25646624|PMID:25701400|PMID:25741868|PMID:28492532|PMID:33532864|PMID:33716212 10052883 CV195467 NM_138694.4(PKHD1):c.10036T>C (p.Cys3346Arg) variant DOID:0110861 autosomal recessive polycystic kidney disease IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE, INFANTILE, TYPE I PMID:12846734|PMID:14741187|PMID:15805161|PMID:21493627|PMID:25646624|PMID:25701400|PMID:25741868|PMID:28492532|PMID:33532864|PMID:33716212 10052883 CV195467 NM_138694.4(PKHD1):c.10036T>C (p.Cys3346Arg) variant DOID:219 colon cancer IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Malignant tumor of colon PMID:12846734|PMID:14741187|PMID:15805161|PMID:21493627|PMID:25646624|PMID:25701400|PMID:25741868|PMID:28492532|PMID:33532864|PMID:33716212 10052883 CV195467 NM_138694.4(PKHD1):c.10036T>C (p.Cys3346Arg) variant DOID:898 autosomal dominant polycystic kidney disease IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1 PMID:12846734|PMID:14741187|PMID:15805161|PMID:21493627|PMID:25646624|PMID:25701400|PMID:25741868|PMID:28492532|PMID:33532864|PMID:33716212 10052884 CV195469 NM_001164508.2(NEB):c.8644G>A (p.Asp2882Asn) variant DOID:0110928 nemaline myopathy 2 IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 2 PMID:25741868|PMID:28492532 10052885 CV195470 NM_152564.5(VPS13B):c.11710C>G (p.Gln3904Glu) variant DOID:0111590 Cohen syndrome IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 10052885 CV195470 NM_152564.5(VPS13B):c.11710C>G (p.Gln3904Glu) variant DOID:9001162 Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness PMID:28492532 10052889 CV195474 NM_001267550.2(TTN):c.18673A>G (p.Thr6225Ala) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:25741868 10052890 CV195476 NM_138694.4(PKHD1):c.10744G>A (p.Glu3582Lys) variant DOID:0080212 polycystic kidney disease 4 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease 4 PMID:25741868|PMID:28492532 10052890 CV195476 NM_138694.4(PKHD1):c.10744G>A (p.Glu3582Lys) variant DOID:0110861 autosomal recessive polycystic kidney disease IAGP D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease PMID:25741868|PMID:28492532 10052891 CV195477 NM_138694.4(PKHD1):c.11130C>T (p.Ile3710=) variant DOID:0110861 autosomal recessive polycystic kidney disease IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease PMID:28492532 10052892 CV195480 NM_004006.3(DMD):c.9198G>A (p.Ser3066=) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:28492532 10052892 CV195480 NM_004006.3(DMD):c.9198G>A (p.Ser3066=) variant DOID:11723 Duchenne muscular dystrophy IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:28492532 10052892 CV195480 NM_004006.3(DMD):c.9198G>A (p.Ser3066=) variant DOID:9883 Becker muscular dystrophy IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Becker muscular dystrophy PMID:28492532 10052893 CV195482 NM_001164508.2(NEB):c.8719G>A (p.Gly2907Ser) variant DOID:0070336 arthrogryposis multiplex congenita-6 IAGP D RGD:8554872 20250821 ClinVar ClinVar Annotator: match by term: NEB-related disorder PMID:28492532 10052893 CV195482 NM_001164508.2(NEB):c.8719G>A (p.Gly2907Ser) variant DOID:0110928 nemaline myopathy 2 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 2 PMID:28492532 10052893 CV195482 NM_001164508.2(NEB):c.8719G>A (p.Gly2907Ser) variant DOID:630 genetic disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10052894 CV195484 NM_025074.7(FRAS1):c.9375T>A (p.His3125Gln) variant DOID:0111405 Fraser syndrome 1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Fraser syndrome 1 PMID:25741868|PMID:28492532 10052894 CV195484 NM_025074.7(FRAS1):c.9375T>A (p.His3125Gln) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10052895 CV195485 NM_025074.7(FRAS1):c.9364C>T (p.Arg3122Trp) variant DOID:0090001 Fraser syndrome IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Cryptophthalmos with other malformations PMID:24700879|PMID:25353622|PMID:25741868|PMID:26893459|PMID:28492532|PMID:31308072|PMID:34426522|PMID:34906515 10052895 CV195485 NM_025074.7(FRAS1):c.9364C>T (p.Arg3122Trp) variant DOID:0111405 Fraser syndrome 1 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Fraser syndrome 1 PMID:24700879|PMID:25353622|PMID:25741868|PMID:26893459|PMID:28492532|PMID:31308072|PMID:34426522|PMID:34906515 10052895 CV195485 NM_025074.7(FRAS1):c.9364C>T (p.Arg3122Trp) variant DOID:0111806 syndromic microphthalmia 5 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome PMID:24700879|PMID:25353622|PMID:25741868|PMID:26893459|PMID:28492532|PMID:31308072|PMID:34426522|PMID:34906515 10052895 CV195485 NM_025074.7(FRAS1):c.9364C>T (p.Arg3122Trp) variant DOID:10629 microphthalmia IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Anophthalmia - microphthalmia PMID:24700879|PMID:25353622|PMID:25741868|PMID:26893459|PMID:28492532|PMID:31308072|PMID:34426522|PMID:34906515 10052895 CV195485 NM_025074.7(FRAS1):c.9364C>T (p.Arg3122Trp) variant DOID:630 genetic disease IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24700879|PMID:25353622|PMID:25741868|PMID:26893459|PMID:28492532|PMID:31308072|PMID:34426522|PMID:34906515 10052897 CV195487 NM_182961.4(SYNE1):c.9953G>A (p.Ser3318Asn) variant DOID:0111618 autosomal recessive spinocerebellar ataxia 8 IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 PMID:25741868|PMID:28492532 10052898 CV195489 NM_000540.3(RYR1):c.9355C>T (p.Arg3119Cys) variant DOID:0080991 congenital myopathy 1B IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Multiminicore Disease PMID:25741868|PMID:28492532 10052898 CV195489 NM_000540.3(RYR1):c.9355C>T (p.Arg3119Cys) variant DOID:3529 congenital myopathy 1A IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Myopathy, Central Core PMID:25741868|PMID:28492532 10052898 CV195489 NM_000540.3(RYR1):c.9355C>T (p.Arg3119Cys) variant DOID:8545 malignant hyperthermia IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Malignant hyperthermia susceptibility PMID:25741868|PMID:28492532 10052898 CV195489 NM_000540.3(RYR1):c.9355C>T (p.Arg3119Cys) variant DOID:9005001 Congenital Neuromuscular Disease, with Uniform Type 1 Fiber IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Neuromuscular disease, congenital, with uniform type 1 fiber PMID:25741868|PMID:28492532 10052898 CV195489 NM_000540.3(RYR1):c.9355C>T (p.Arg3119Cys) variant DOID:9005320 Malignant Fever IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Pharmacogenic myopathy PMID:25741868|PMID:28492532 10052901 CV195494 NM_005529.7(HSPG2):c.8288G>A (p.Arg2763His) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532 10052902 CV195498 NM_080680.3(COL11A2):c.4652G>A (p.Arg1551Gln) variant DOID:0080026 otospondylomegaepiphyseal dysplasia, autosomal recessive IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Otospondylomegaepiphyseal dysplasia, autosomal recessive PMID:24033266|PMID:25741868|PMID:28492532 10052902 CV195498 NM_080680.3(COL11A2):c.4652G>A (p.Arg1551Gln) variant DOID:0080046 Stickler syndrome IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Stickler Syndrome, Dominant PMID:24033266|PMID:25741868|PMID:28492532 10052902 CV195498 NM_080680.3(COL11A2):c.4652G>A (p.Arg1551Gln) variant DOID:0080673 fibrochondrogenesis 2 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fibrochondrogenesis 2 PMID:24033266|PMID:25741868|PMID:28492532 10052902 CV195498 NM_080680.3(COL11A2):c.4652G>A (p.Arg1551Gln) variant DOID:0080677 otospondylomegaepiphyseal dysplasia, autosomal dominant IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Otospondylomegaepiphyseal dysplasia, autosomal dominant PMID:24033266|PMID:25741868|PMID:28492532 10052905 CV195502 NM_206933.4(USH2A):c.13478G>A (p.Arg4493His) variant DOID:0110838 Usher syndrome type 2A IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Usher syndrome, type 2A PMID:24033266|PMID:24938718|PMID:25078356|PMID:25741868|PMID:28492532 10052905 CV195502 NM_206933.4(USH2A):c.13478G>A (p.Arg4493His) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:24033266|PMID:24938718|PMID:25078356|PMID:25741868|PMID:28492532 10052906 CV195503 NM_206933.4(USH2A):c.13250A>G (p.Tyr4417Cys) variant DOID:0110360 retinitis pigmentosa 39 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 39 PMID:25741868|PMID:28492532 10052906 CV195503 NM_206933.4(USH2A):c.13250A>G (p.Tyr4417Cys) variant DOID:0110838 Usher syndrome type 2A IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2A PMID:25741868|PMID:28492532 10052906 CV195503 NM_206933.4(USH2A):c.13250A>G (p.Tyr4417Cys) variant DOID:630 genetic disease IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10052907 CV195504 NM_206933.4(USH2A):c.12997C>G (p.Leu4333Val) variant DOID:0110360 retinitis pigmentosa 39 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 39 PMID:25741868|PMID:28492532 10052907 CV195504 NM_206933.4(USH2A):c.12997C>G (p.Leu4333Val) variant DOID:0110838 Usher syndrome type 2A IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2A PMID:25741868|PMID:28492532 10052908 CV195506 NM_000138.5(FBN1):c.7964C>T (p.Ala2655Val) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection PMID:25652356|PMID:25741868|PMID:28492532|PMID:30775854|PMID:38700693 10052908 CV195506 NM_000138.5(FBN1):c.7964C>T (p.Ala2655Val) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25652356|PMID:25741868|PMID:28492532|PMID:30775854|PMID:38700693 10052908 CV195506 NM_000138.5(FBN1):c.7964C>T (p.Ala2655Val) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:25652356|PMID:25741868|PMID:28492532|PMID:30775854|PMID:38700693 10052909 CV195508 NM_001277115.2(DNAH11):c.10472G>A (p.Arg3491His) variant DOID:0110605 primary ciliary dyskinesia 7 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 7, WITH OR WITHOUT SITUS INVERSUS PMID:24033266|PMID:25741868|PMID:28492532 10052909 CV195508 NM_001277115.2(DNAH11):c.10472G>A (p.Arg3491His) variant DOID:9562 primary ciliary dyskinesia IAGP D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:24033266|PMID:25741868|PMID:28492532 10052910 CV195510 NM_182961.4(SYNE1):c.10260G>A (p.Ala3420=) variant DOID:0070249 autosomal dominant Emery-Dreifuss muscular dystrophy 4 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant PMID:28492532 10052910 CV195510 NM_182961.4(SYNE1):c.10260G>A (p.Ala3420=) variant DOID:0111618 autosomal recessive spinocerebellar ataxia 8 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type PMID:28492532 10052914 CV195515 NM_005045.4(RELN):c.10310T>C (p.Met3437Thr) variant DOID:0060748 familial temporal lobe epilepsy 1 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Familial temporal lobe epilepsy 1 PMID:25741868|PMID:28492532 10052914 CV195515 NM_005045.4(RELN):c.10310T>C (p.Met3437Thr) variant DOID:0060902 Norman-Roberts syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Norman-Roberts syndrome PMID:25741868|PMID:28492532 10052916 CV195517 NM_080680.3(COL11A2):c.4959C>T (p.Tyr1653=) variant DOID:0080026 otospondylomegaepiphyseal dysplasia, autosomal recessive IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Otospondylomegaepiphyseal dysplasia, autosomal recessive PMID:28492532 10052916 CV195517 NM_080680.3(COL11A2):c.4959C>T (p.Tyr1653=) variant DOID:0080673 fibrochondrogenesis 2 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Fibrochondrogenesis 2 PMID:28492532 10052916 CV195517 NM_080680.3(COL11A2):c.4959C>T (p.Tyr1653=) variant DOID:0080677 otospondylomegaepiphyseal dysplasia, autosomal dominant IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Otospondylomegaepiphyseal dysplasia, autosomal dominant PMID:28492532 10052917 CV195518 NM_001267550.2(TTN):c.19744C>T (p.Arg6582Ter) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23975875|PMID:25589632|PMID:25741868|PMID:27869827|PMID:28492532|PMID:32964742 10052917 CV195518 NM_001267550.2(TTN):c.19744C>T (p.Arg6582Ter) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23975875|PMID:25589632|PMID:25741868|PMID:27869827|PMID:28492532|PMID:32964742 10052918 CV195519 NM_182914.3(SYNE2):c.12567G>A (p.Glu4189=) variant DOID:0070250 autosomal dominant Emery-Dreifuss muscular dystrophy 5 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 5, autosomal dominant PMID:28492532 10052919 CV195520 NM_001369.3(DNAH5):c.11234A>G (p.His3745Arg) variant DOID:9562 primary ciliary dyskinesia IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 10052920 CV195521 NM_001854.4(COL11A1):c.5198G>A (p.Arg1733His) variant DOID:0080672 fibrochondrogenesis 1 IAGP D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Fibrochondrogenesis 1 PMID:25741868|PMID:26467025|PMID:28492532 10052920 CV195521 NM_001854.4(COL11A1):c.5198G>A (p.Arg1733His) variant DOID:0080675 Stickler syndrome 2 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Stickler syndrome type 2 PMID:25741868|PMID:26467025|PMID:28492532 10052920 CV195521 NM_001854.4(COL11A1):c.5198G>A (p.Arg1733His) variant DOID:0111510 Marshall syndrome IAGP D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Marshall syndrome PMID:25741868|PMID:26467025|PMID:28492532 10052920 CV195521 NM_001854.4(COL11A1):c.5198G>A (p.Arg1733His) variant DOID:65 connective tissue disease IAGP D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:26467025|PMID:28492532 10052921 CV195522 NM_004006.3(DMD):c.9564-5A>G variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:28492532 10052921 CV195522 NM_004006.3(DMD):c.9564-5A>G variant DOID:0110461 X-linked dilated cardiomyopathy IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 3B PMID:28492532 10052921 CV195522 NM_004006.3(DMD):c.9564-5A>G variant DOID:11723 Duchenne muscular dystrophy IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:28492532 10052921 CV195522 NM_004006.3(DMD):c.9564-5A>G variant DOID:9883 Becker muscular dystrophy IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Becker muscular dystrophy PMID:28492532 10052922 CV195523 NM_001164508.2(NEB):c.10092C>T (p.Pro3364=) variant DOID:0110928 nemaline myopathy 2 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 2 PMID:28492532 10052923 CV195524 NM_182961.4(SYNE1):c.10475G>A (p.Arg3492His) variant DOID:0070249 autosomal dominant Emery-Dreifuss muscular dystrophy 4 IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant PMID:25741868|PMID:26467025|PMID:28492532 10052923 CV195524 NM_182961.4(SYNE1):c.10475G>A (p.Arg3492His) variant DOID:0111618 autosomal recessive spinocerebellar ataxia 8 IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 PMID:25741868|PMID:26467025|PMID:28492532 10052924 CV195525 NM_001267550.2(TTN):c.19996C>T (p.Pro6666Ser) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Early-onset myopathy with fatal cardiomyopathy PMID:25741868|PMID:28492532 10052924 CV195525 NM_001267550.2(TTN):c.19996C>T (p.Pro6666Ser) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:25741868|PMID:28492532 10052924 CV195525 NM_001267550.2(TTN):c.19996C>T (p.Pro6666Ser) variant DOID:0110315 hypertrophic cardiomyopathy 9 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 9 PMID:25741868|PMID:28492532 10052924 CV195525 NM_001267550.2(TTN):c.19996C>T (p.Pro6666Ser) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:25741868|PMID:28492532 10052924 CV195525 NM_001267550.2(TTN):c.19996C>T (p.Pro6666Ser) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: UDD Myopathy PMID:25741868|PMID:28492532 10052924 CV195525 NM_001267550.2(TTN):c.19996C>T (p.Pro6666Ser) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant PMID:25741868|PMID:28492532 10052925 CV195527 NM_206933.4(USH2A):c.14419G>A (p.Ala4807Thr) variant DOID:0050439 Usher syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Usher syndrome PMID:24033266|PMID:28492532 10052925 CV195527 NM_206933.4(USH2A):c.14419G>A (p.Ala4807Thr) variant DOID:0110838 Usher syndrome type 2A IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Usher syndrome, type 2A PMID:24033266|PMID:28492532 10052926 CV195528 NM_001164508.2(NEB):c.10201T>A (p.Ser3401Thr) variant DOID:0070336 arthrogryposis multiplex congenita-6 IAGP D RGD:8554872 20250821 ClinVar ClinVar Annotator: match by term: NEB-related disorder PMID:25741868|PMID:28492532 10052926 CV195528 NM_001164508.2(NEB):c.10201T>A (p.Ser3401Thr) variant DOID:0110928 nemaline myopathy 2 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 2 PMID:25741868|PMID:28492532 10052926 CV195528 NM_001164508.2(NEB):c.10201T>A (p.Ser3401Thr) variant DOID:630 genetic disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10052927 CV195529 NM_138694.4(PKHD1):c.12027C>G (p.Tyr4009Ter) variant DOID:0080212 polycystic kidney disease 4 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease 4 PMID:15108277|PMID:15108281|PMID:25741868|PMID:28375157|PMID:28492532|PMID:31308072|PMID:33226606|PMID:33742171|PMID:34426522|PMID:38057357|PMID:38374194 10052927 CV195529 NM_138694.4(PKHD1):c.12027C>G (p.Tyr4009Ter) variant DOID:0110860 polycystic kidney disease 3 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: PKD3 PMID:15108277|PMID:15108281|PMID:25741868|PMID:28375157|PMID:28492532|PMID:31308072|PMID:33226606|PMID:33742171|PMID:34426522|PMID:38057357|PMID:38374194 10052927 CV195529 NM_138694.4(PKHD1):c.12027C>G (p.Tyr4009Ter) variant DOID:0110861 autosomal recessive polycystic kidney disease IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE, INFANTILE, TYPE I PMID:15108277|PMID:15108281|PMID:25741868|PMID:28375157|PMID:28492532|PMID:31308072|PMID:33226606|PMID:33742171|PMID:34426522|PMID:38057357|PMID:38374194 10052927 CV195529 NM_138694.4(PKHD1):c.12027C>G (p.Tyr4009Ter) variant DOID:898 autosomal dominant polycystic kidney disease IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1 PMID:15108277|PMID:15108281|PMID:25741868|PMID:28375157|PMID:28492532|PMID:31308072|PMID:33226606|PMID:33742171|PMID:34426522|PMID:38057357|PMID:38374194 10052928 CV195531 NM_022124.6(CDH23):c.9524G>A (p.Arg3175His) variant DOID:0050439 Usher syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness PMID:12075507|PMID:16281288|PMID:17850630|PMID:18368581|PMID:25741868|PMID:27349180|PMID:28492532|PMID:29986705 10052928 CV195531 NM_022124.6(CDH23):c.9524G>A (p.Arg3175His) variant DOID:0110467 autosomal recessive nonsyndromic deafness 12 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 12 PMID:12075507|PMID:16281288|PMID:17850630|PMID:18368581|PMID:25741868|PMID:27349180|PMID:28492532|PMID:29986705 10052928 CV195531 NM_022124.6(CDH23):c.9524G>A (p.Arg3175His) variant DOID:0110826 Usher syndrome type 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1 PMID:12075507|PMID:16281288|PMID:17850630|PMID:18368581|PMID:25741868|PMID:27349180|PMID:28492532|PMID:29986705 10052928 CV195531 NM_022124.6(CDH23):c.9524G>A (p.Arg3175His) variant DOID:0110831 Usher syndrome type 1D IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1D PMID:12075507|PMID:16281288|PMID:17850630|PMID:18368581|PMID:25741868|PMID:27349180|PMID:28492532|PMID:29986705 10052928 CV195531 NM_022124.6(CDH23):c.9524G>A (p.Arg3175His) variant DOID:0112008 pituitary adenoma 5 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: PITUITARY ADENOMA 5, MULTIPLE TYPES PMID:12075507|PMID:16281288|PMID:17850630|PMID:18368581|PMID:25741868|PMID:27349180|PMID:28492532|PMID:29986705 10052928 CV195531 NM_022124.6(CDH23):c.9524G>A (p.Arg3175His) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12075507|PMID:16281288|PMID:17850630|PMID:18368581|PMID:25741868|PMID:27349180|PMID:28492532|PMID:29986705 10052929 CV195532 NM_182961.4(SYNE1):c.11030G>A (p.Cys3677Tyr) variant DOID:0070249 autosomal dominant Emery-Dreifuss muscular dystrophy 4 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES PMID:26467025|PMID:28492532 10052929 CV195532 NM_182961.4(SYNE1):c.11030G>A (p.Cys3677Tyr) variant DOID:0111618 autosomal recessive spinocerebellar ataxia 8 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 PMID:26467025|PMID:28492532 10052930 CV195533 NM_001035.3(RYR2):c.10059C>A (p.Leu3353=) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10052930 CV195533 NM_001035.3(RYR2):c.10059C>A (p.Leu3353=) variant DOID:0060674 catecholaminergic polymorphic ventricular tachycardia IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28492532 10052930 CV195533 NM_001035.3(RYR2):c.10059C>A (p.Leu3353=) variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:25741868|PMID:28492532 10052932 CV195537 NM_005529.7(HSPG2):c.9079G>A (p.Asp3027Asn) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10052933 CV195538 NM_032119.4(ADGRV1):c.14005T>C (p.Phe4669Leu) variant DOID:0110839 Usher syndrome type 2C IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Usher syndrome, type 2C PMID:28492532 10052933 CV195538 NM_032119.4(ADGRV1):c.14005T>C (p.Phe4669Leu) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10052934 CV195540 NM_000016.6(ACADM):c.558T>A (p.Asn186Lys) variant DOID:0080153 medium chain acyl-CoA dehydrogenase deficiency IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Medium-chain acyl-coenzyme A dehydrogenase deficiency PMID:20434380|PMID:22542437|PMID:25741868|PMID:26467025|PMID:28492532 10052936 CV195543 NM_000023.4(SGCA):c.789C>A (p.Thr263=) variant DOID:0110278 autosomal recessive limb-girdle muscular dystrophy type 2D IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2D PMID:28492532 10052937 CV195544 NM_000023.4(SGCA):c.748-3C>T variant DOID:0110278 autosomal recessive limb-girdle muscular dystrophy type 2D IAGP D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2D PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 10052938 CV195545 NM_000048.4(ASL):c.467C>T (p.Pro156Leu) variant DOID:14755 argininosuccinic aciduria IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Argininosuccinate lyase deficiency PMID:24166829|PMID:25741868|PMID:28492532|PMID:29773863|PMID:31030429 10052939 CV195546 NM_000048.4(ASL):c.502C>T (p.Arg168Cys) variant DOID:12849 autistic disorder IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Autism PMID:25741868 10052939 CV195546 NM_000048.4(ASL):c.502C>T (p.Arg168Cys) variant DOID:14755 argininosuccinic aciduria IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Argininosuccinate lyase deficiency PMID:25741868 10052940 CV195548 NM_000067.3(CA2):c.677G>A (p.Arg226His) variant DOID:0110941 autosomal recessive osteopetrosis 3 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Osteopetrosis with renal tubular acidosis PMID:25741868|PMID:28492532 10052940 CV195548 NM_000067.3(CA2):c.677G>A (p.Arg226His) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10052941 CV195549 NM_000071.3(CBS):c.536_553del (p.Asp179_Leu184del) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10338090|PMID:12124992|PMID:24138954|PMID:25741868|PMID:28492532 10052941 CV195549 NM_000071.3(CBS):c.536_553del (p.Asp179_Leu184del) variant DOID:9263 homocystinuria IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED PMID:10338090|PMID:12124992|PMID:24138954|PMID:25741868|PMID:28492532 10052942 CV195550 NM_000079.4(CHRNA1):c.948C>A (p.Ile316=) variant DOID:9005962 Multiple Pterygium Syndrome, Lethal Type IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Lethal multiple pterygium syndrome PMID:28492532 10052943 CV195553 NM_000152.5(GAA):c.1147A>G (p.Ile383Val) variant DOID:2752 glycogen storage disease II IAGP D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type II PMID:25741868|PMID:28492532 10052944 CV195554 NM_000152.5(GAA):c.1194+3G>C variant DOID:2752 glycogen storage disease II IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type II PMID:17576681|PMID:25741868|PMID:28492532|PMID:33073003|PMID:33202836|PMID:9536098 10052945 CV195556 NM_000155.4(GALT):c.611G>A (p.Arg204Gln) variant DOID:9870 galactosemia IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:10399107|PMID:25741868|PMID:28492532 10052946 CV195557 NM_000159.4(GCDH):c.572T>C (p.Met191Thr) variant DOID:0111254 glutaric acidemia I IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:15505393|PMID:21031586|PMID:25741868|PMID:28411331|PMID:28492532|PMID:9600243 10052947 CV195558 NM_000162.5(GCK):c.688T>C (p.Cys230Arg) variant DOID:0050524 maturity-onset diabetes of the young IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young PMID:25306193|PMID:25741868|PMID:26467025|PMID:27269892|PMID:28323911|PMID:28492532|PMID:29510678|PMID:30257192|PMID:31197960|PMID:32375122|PMID:33129248 10052947 CV195558 NM_000162.5(GCK):c.688T>C (p.Cys230Arg) variant DOID:0111100 maturity-onset diabetes of the young type 2 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 2 PMID:25306193|PMID:25741868|PMID:26467025|PMID:27269892|PMID:28323911|PMID:28492532|PMID:29510678|PMID:30257192|PMID:31197960|PMID:32375122|PMID:33129248 10052947 CV195558 NM_000162.5(GCK):c.688T>C (p.Cys230Arg) variant DOID:9351 diabetes mellitus IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:25306193|PMID:25741868|PMID:26467025|PMID:27269892|PMID:28323911|PMID:28492532|PMID:29510678|PMID:30257192|PMID:31197960|PMID:32375122|PMID:33129248 10052948 CV195559 NM_000163.5(GHR):c.718T>C (p.Tyr240His) variant DOID:1826 epilepsy IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Seizures PMID:10984309|PMID:25741868|PMID:28492532 10052948 CV195559 NM_000163.5(GHR):c.718T>C (p.Tyr240His) variant DOID:8927 learning disability IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Specific learning disability PMID:10984309|PMID:25741868|PMID:28492532 10052948 CV195559 NM_000163.5(GHR):c.718T>C (p.Tyr240His) variant DOID:9004552 Genu Varum IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Genu varum PMID:10984309|PMID:25741868|PMID:28492532 10052948 CV195559 NM_000163.5(GHR):c.718T>C (p.Tyr240His) variant DOID:9006324 Isolated Growth Hormone Deficiency, Partial IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL PMID:10984309|PMID:25741868|PMID:28492532 10052948 CV195559 NM_000163.5(GHR):c.718T>C (p.Tyr240His) variant DOID:9007303 Idiopathic Short Stature, Autosomal IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Short stature, idiopathic, autosomal PMID:10984309|PMID:25741868|PMID:28492532 10052948 CV195559 NM_000163.5(GHR):c.718T>C (p.Tyr240His) variant DOID:9007661 Dwarfism IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Short stature PMID:10984309|PMID:25741868|PMID:28492532 10052948 CV195559 NM_000163.5(GHR):c.718T>C (p.Tyr240His) variant DOID:9521 Laron syndrome IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Laron-type isolated somatotropin defect PMID:10984309|PMID:25741868|PMID:28492532 10052949 CV195560 NM_000169.3(GLA):c.1072G>A (p.Glu358Lys) variant DOID:14499 Fabry disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Angiokeratoma corporis diffusum PMID:12429061|PMID:15339079|PMID:15712228|PMID:15713906|PMID:18154965|PMID:21598360|PMID:25741868|PMID:26297554|PMID:26415523|PMID:28492532|PMID:8807334|PMID:9452068 10052950 CV195561 NM_000169.3(GLA):c.1157A>C (p.Gln386Pro) variant DOID:14499 Fabry disease IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Angiokeratoma corporis diffusum PMID:16595074|PMID:23935525|PMID:24033266|PMID:25382311|PMID:25741868|PMID:28492532 10052951 CV195562 NM_000169.3(GLA):c.1087C>T (p.Arg363Cys) variant DOID:14499 Fabry disease IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Fabry disease PMID:11668641|PMID:12175777|PMID:15003450|PMID:15924232|PMID:19387866|PMID:21138548|PMID:21598360|PMID:22063097|PMID:25741868|PMID:25762495|PMID:26937405|PMID:27916943|PMID:28302345|PMID:28492532|PMID:28615118|PMID:28749998|PMID:29437868|PMID:29661900|PMID:30103270|PMID:31860127|PMID:32442237|PMID:39348817 10052952 CV195563 NM_000169.3(GLA):c.1235_1236del (p.Thr412fs) variant DOID:14499 Fabry disease IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Fabry disease PMID:11668641|PMID:15712228|PMID:16595074|PMID:1668641|PMID:19287194|PMID:20505683|PMID:22551898|PMID:23935525|PMID:25741868|PMID:28492532|PMID:28728877|PMID:29079200|PMID:29770213|PMID:30386727 10052953 CV195565 NM_000199.5(SGSH):c.841G>T (p.Gly281Cys) variant DOID:0111395 mucopolysaccharidosis type IIIA IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-A PMID:25741868 10052954 CV195566 NM_000202.8(IDS):c.925A>G (p.Thr309Ala) variant DOID:0111395 mucopolysaccharidosis type IIIA IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-A PMID:23800320|PMID:25741868|PMID:28492532|PMID:9762601 10052954 CV195566 NM_000202.8(IDS):c.925A>G (p.Thr309Ala) variant DOID:12799 mucopolysaccharidosis II IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-II PMID:23800320|PMID:25741868|PMID:28492532|PMID:9762601 10052954 CV195566 NM_000202.8(IDS):c.925A>G (p.Thr309Ala) variant DOID:630 genetic disease IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23800320|PMID:25741868|PMID:28492532|PMID:9762601 10052955 CV195568 NM_000231.3(SGCG):c.636A>G (p.Gln212=) variant DOID:0110277 autosomal recessive limb-girdle muscular dystrophy type 2C IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Severe autosomal recessive muscular dystrophy of childhood - North African type PMID:28492532 10052958 CV195572 NM_000275.3(OCA2):c.727C>T (p.Arg243Cys) variant DOID:0050632 oculocutaneous albinism IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Oculocutaneous albinism PMID:19865097|PMID:25741868|PMID:28492532|PMID:30835348|PMID:32969595|PMID:34838614|PMID:37930845|PMID:38858617 10052958 CV195572 NM_000275.3(OCA2):c.727C>T (p.Arg243Cys) variant DOID:0070096 oculocutaneous albinism type II IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Tyrosinase-positive oculocutaneous albinism PMID:19865097|PMID:25741868|PMID:28492532|PMID:30835348|PMID:32969595|PMID:34838614|PMID:37930845|PMID:38858617 10052958 CV195572 NM_000275.3(OCA2):c.727C>T (p.Arg243Cys) variant DOID:9000752 Skin/Hair/Eye Pigmentation, Variation In, 1 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES PMID:19865097|PMID:25741868|PMID:28492532|PMID:30835348|PMID:32969595|PMID:34838614|PMID:37930845|PMID:38858617 10052959 CV195573 NM_000284.4(PDHA1):c.628A>G (p.Met210Val) variant DOID:9000982 Pyruvate Dehydrogenase E1 Alpha Deficiency IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency PMID:25741868|PMID:8844217 10052960 CV195574 NM_000310.4(PPT1):c.722C>T (p.Ser241Leu) variant DOID:0110721 neuronal ceroid lipofuscinosis 1 IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 1 PMID:22387303|PMID:23374165|PMID:25741868|PMID:28492532 10052962 CV195579 NM_000383.4(AIRE):c.841G>A (p.Ala281Thr) variant DOID:0050167 autoimmune polyendocrine syndrome type 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 PMID:28492532 10052964 CV195586 NM_000503.6(EYA1):c.548A>G (p.Gln183Arg) variant DOID:0061209 branchiootic syndrome 1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Branchiootic syndrome 1 PMID:25741868 10052965 CV195587 NM_000512.5(GALNS):c.740G>A (p.Gly247Asp) variant DOID:0111391 mucopolysaccharidosis IVA IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A PMID:15235041|PMID:16287098|PMID:23876334|PMID:24033266|PMID:24726177|PMID:25433535|PMID:25741868|PMID:28492532|PMID:34387910|PMID:9298823 10052965 CV195587 NM_000512.5(GALNS):c.740G>A (p.Gly247Asp) variant DOID:12804 mucopolysaccharidosis IV IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Morquio syndrome PMID:15235041|PMID:16287098|PMID:23876334|PMID:24033266|PMID:24726177|PMID:25433535|PMID:25741868|PMID:28492532|PMID:34387910|PMID:9298823 10052966 CV195588 NM_000512.5(GALNS):c.665G>A (p.Arg222Gln) variant DOID:0111391 mucopolysaccharidosis IVA IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A PMID:25741868|PMID:28492532 10052967 CV195591 NM_000540.3(RYR1):c.624C>T (p.Cys208=) variant DOID:8545 malignant hyperthermia IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Malignant hyperpyrexia PMID:25741868|PMID:28492532 10052967 CV195591 NM_000540.3(RYR1):c.624C>T (p.Cys208=) variant DOID:9005320 Malignant Fever IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Pharmacogenic myopathy PMID:25741868|PMID:28492532 10052969 CV195595 NM_000719.7(CACNA1C):c.1113+4C>T variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:17576681|PMID:28492532|PMID:9536098 10052970 CV195596 NM_000751.3(CHRND):c.805T>C (p.Tyr269His) variant DOID:9005962 Multiple Pterygium Syndrome, Lethal Type IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Lethal multiple pterygium syndrome PMID:25741868|PMID:28492532 10052972 CV195603 NM_001018113.3(FANCB):c.1371C>T (p.Val457=) variant DOID:0111098 Fanconi anemia complementation group B IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Fanconi anemia, complementation group B PMID:28492532 10052972 CV195603 NM_001018113.3(FANCB):c.1371C>T (p.Val457=) variant DOID:0111766 X-linked VACTERL association IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: VACTERL-H PMID:28492532 10052972 CV195603 NM_001018113.3(FANCB):c.1371C>T (p.Val457=) variant DOID:13636 Fanconi anemia IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Fanconi's anemia PMID:28492532 10052974 CV195606 NM_001025389.2(AMPD3):c.1016C>T (p.Thr339Met) variant DOID:9006043 Erythrocyte Amp Deaminase Deficiency IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Erythrocyte AMP deaminase deficiency PMID:25741868 10052975 CV195607 NM_001039141.3(TRIOBP):c.3068C>T (p.Ala1023Val) variant DOID:0110486 autosomal recessive nonsyndromic deafness 28 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: TRIOBP-related condition PMID:28492532 10052976 CV195608 NM_001039141.3(TRIOBP):c.1193_1195del (p.Gln398del) variant DOID:0110486 autosomal recessive nonsyndromic deafness 28 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 28 PMID:25741868|PMID:28492532 10052977 CV195609 NM_001360016.2(G6PD):c.645-17C>T variant DOID:13628 favism IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:28492532 10052978 CV195610 NM_001042432.2(CLN3):c.399T>C (p.Ile133=) variant DOID:14503 neuronal ceroid lipofuscinosis IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 10052979 CV195611 NM_001042432.2(CLN3):c.393T>C (p.Ser131=) variant DOID:14503 neuronal ceroid lipofuscinosis IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:28492532 10052980 CV195613 NM_001378615.1(CC2D2A):c.355T>C (p.Leu119=) variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:25741868|PMID:28492532 10052980 CV195613 NM_001378615.1(CC2D2A):c.355T>C (p.Leu119=) variant DOID:0070120 Meckel syndrome 6 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Meckel syndrome type 6 PMID:25741868|PMID:28492532 10052980 CV195613 NM_001378615.1(CC2D2A):c.355T>C (p.Leu119=) variant DOID:0111004 Joubert syndrome 9 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Joubert syndrome 9 PMID:25741868|PMID:28492532 10052981 CV195614 NM_001082538.3(TCTN1):c.823-4C>G variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 10052982 CV195615 NM_001101426.4(CRPPA):c.947C>A (p.Thr316Lys) variant DOID:0050557 congenital muscular dystrophy IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related PMID:25741868|PMID:28492532 10052982 CV195615 NM_001101426.4(CRPPA):c.947C>A (p.Thr316Lys) variant DOID:0111234 congenital muscular dystrophy-dystroglycanopathy type A7 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 PMID:25741868|PMID:28492532 10052983 CV195617 NM_000245.4(MET):c.1932C>T (p.His644=) variant DOID:4450 renal cell carcinoma IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma PMID:28492532 10052983 CV195617 NM_000245.4(MET):c.1932C>T (p.His644=) variant DOID:9006972 Renal Cell Carcinoma 1 IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma 1 PMID:28492532 10052983 CV195617 NM_000245.4(MET):c.1932C>T (p.His644=) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:28492532 10052985 CV195620 NM_001330078.2(NRXN1):c.882C>T (p.Tyr294=) variant DOID:0111332 Pitt-Hopkins-like syndrome 2 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 PMID:28492532 10052986 CV195621 NM_017668.3(NDE1):c.626C>T (p.Thr209Met) variant DOID:630 genetic disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10052987 CV195622 NM_001195263.2(PDZD7):c.878G>A (p.Arg293Gln) variant DOID:0110839 Usher syndrome type 2C IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Usher syndrome, type 2C PMID:25741868|PMID:28492532 10052989 CV195624 NM_001360.3(DHCR7):c.709C>T (p.Leu237=) variant DOID:14692 Smith-Lemli-Opitz syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Smith-Lemli-Opitz syndrome PMID:28492532 10052990 CV195628 NM_001159699.2(FHL1):c.787G>A (p.Asp263Asn) variant DOID:0070251 X-linked Emery-Dreifuss muscular dystrophy 6 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: X-linked myopathy with postural muscle atrophy PMID:25741868|PMID:28492532 10052990 CV195628 NM_001159699.2(FHL1):c.787G>A (p.Asp263Asn) variant DOID:0080090 reducing body myopathy 1A IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myopathy, reducing body, X-linked, early-onset, severe PMID:25741868|PMID:28492532 10052990 CV195628 NM_001159699.2(FHL1):c.787G>A (p.Asp263Asn) variant DOID:0080687 reducing body myopathy 1B IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myopathy, reducing body, X-linked, childhood-onset PMID:25741868|PMID:28492532 10052990 CV195628 NM_001159699.2(FHL1):c.787G>A (p.Asp263Asn) variant DOID:0112148 Uruguay faciocardiomusculoskeletal syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Uruguay Faciocardiomusculoskeletal syndrome PMID:25741868|PMID:28492532 10052990 CV195628 NM_001159699.2(FHL1):c.787G>A (p.Asp263Asn) variant DOID:9001526 X-Linked Scapuloperoneal Muscular Dystrophy IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Scapuloperoneal myopathy, X-linked dominant PMID:25741868|PMID:28492532 10052991 CV195629 NM_001110556.2(FLNA):c.1029C>T (p.Ser343=) variant DOID:0050454 periventricular nodular heterotopia IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Periventricular nodular heterotopia 1 PMID:25741868|PMID:26467025|PMID:28492532 10052991 CV195629 NM_001110556.2(FLNA):c.1029C>T (p.Ser343=) variant DOID:0111784 otopalatodigital syndrome type 2 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II PMID:25741868|PMID:26467025|PMID:28492532 10052991 CV195629 NM_001110556.2(FLNA):c.1029C>T (p.Ser343=) variant DOID:0111785 frontometaphyseal dysplasia IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Frontometaphyseal dysplasia PMID:25741868|PMID:26467025|PMID:28492532 10052991 CV195629 NM_001110556.2(FLNA):c.1029C>T (p.Ser343=) variant DOID:0111788 Melnick-Needles syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles PMID:25741868|PMID:26467025|PMID:28492532 10052991 CV195629 NM_001110556.2(FLNA):c.1029C>T (p.Ser343=) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:26467025|PMID:28492532 10052991 CV195629 NM_001110556.2(FLNA):c.1029C>T (p.Ser343=) variant DOID:9005082 Periventricular Nodular Heterotopia 4 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Heterotopia, periventricular, Ehlers-Danlos variant PMID:25741868|PMID:26467025|PMID:28492532 10052993 CV195635 NM_001854.4(COL11A1):c.965C>T (p.Pro322Leu) variant DOID:0070601 autosomal dominant nonsyndromic deafness 37 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 37 PMID:25741868|PMID:28492532|PMID:34515852 10052993 CV195635 NM_001854.4(COL11A1):c.965C>T (p.Pro322Leu) variant DOID:0080672 fibrochondrogenesis 1 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Fibrochondrogenesis 1 PMID:25741868|PMID:28492532|PMID:34515852 10052993 CV195635 NM_001854.4(COL11A1):c.965C>T (p.Pro322Leu) variant DOID:0080675 Stickler syndrome 2 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Stickler syndrome type 2 PMID:25741868|PMID:28492532|PMID:34515852 10052993 CV195635 NM_001854.4(COL11A1):c.965C>T (p.Pro322Leu) variant DOID:0111510 Marshall syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Deafness, myopia, cataract, saddle nose-Marshall type PMID:25741868|PMID:28492532|PMID:34515852 10052993 CV195635 NM_001854.4(COL11A1):c.965C>T (p.Pro322Leu) variant DOID:9000585 Intervertebral Disc Disease IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: INTERVERTEBRAL DISC DISEASE PMID:25741868|PMID:28492532|PMID:34515852 10052994 CV195636 NM_001918.5(DBT):c.917C>G (p.Ser306Cys) variant DOID:9269 maple syrup urine disease IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:28492532|PMID:31980395 10052995 CV195637 NM_001927.4(DES):c.1245-3T>G variant DOID:0080092 myofibrillar myopathy 1 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:17576681|PMID:25741868|PMID:28492532|PMID:32528171|PMID:9536098 10052996 CV195638 NM_002109.6(HARS1):c.694C>T (p.Arg232Cys) variant DOID:0110842 Usher syndrome type 3B IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Usher syndrome type 3B PMID:25741868|PMID:28492532 10052997 CV195640 NM_002225.5(IVD):c.726G>C (p.Lys242Asn) variant DOID:14753 isovaleric acidemia IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Isovaleryl-CoA dehydrogenase deficiency PMID:28492532 10052998 CV195642 NM_002397.5(MEF2C):c.759A>G (p.Pro253=) variant DOID:0070050 neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: MEF2C-related disorder PMID:28492532 10053000 CV195644 NM_002633.3(PGM1):c.1103C>T (p.Ala368Val) variant DOID:0080570 congenital disorder of glycosylation It IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1t PMID:28492532 10053000 CV195644 NM_002633.3(PGM1):c.1103C>T (p.Ala368Val) variant DOID:5212 congenital disorder of glycosylation IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation PMID:28492532 10053003 CV195648 NM_002880.4(RAF1):c.683C>G (p.Ser228Cys) variant DOID:0080690 RASopathy IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532|PMID:30904638 10053004 CV195650 NM_003073.5(SMARCB1):c.888G>T (p.Lys296Asn) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:28492532 10053005 CV195651 NM_001032221.6(STXBP1):c.548T>C (p.Leu183Pro) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:21770924|PMID:28492532|PMID:29056246 10053007 CV195653 NM_003361.4(UMOD):c.1406C>T (p.Thr469Met) variant DOID:0061122 autosomal dominant tubulointerstitial kidney disease 1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: UMOD-related condition PMID:28492532 10053008 CV195654 NM_003482.4(KMT2D):c.878C>T (p.Thr293Met) variant DOID:0060473 Kabuki syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Kabuki syndrome PMID:28492532 10053008 CV195654 NM_003482.4(KMT2D):c.878C>T (p.Thr293Met) variant DOID:630 genetic disease IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10053009 CV195655 NM_001130987.2(DYSF):c.803A>C (p.Asn268Thr) variant DOID:0070199 Miyoshi muscular dystrophy 1 IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Miyoshi muscular dystrophy 1 PMID:25741868|PMID:28492532 10053009 CV195655 NM_001130987.2(DYSF):c.803A>C (p.Asn268Thr) variant DOID:0110276 autosomal recessive limb-girdle muscular dystrophy type 2B IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 3 PMID:25741868|PMID:28492532 10053011 CV195660 NM_003896.4(ST3GAL5):c.1212G>A (p.Glu404=) variant DOID:0060470 salt and pepper syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Salt and pepper developmental regression syndrome PMID:25741868|PMID:28492532 10053012 CV195661 NM_003896.4(ST3GAL5):c.1247G>T (p.Arg416Leu) variant DOID:0060470 salt and pepper syndrome IAGP D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Amish infantile epilepsy syndrome PMID:25741868|PMID:26467025|PMID:28492532 10053012 CV195661 NM_003896.4(ST3GAL5):c.1247G>T (p.Arg416Leu) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 10053014 CV195668 NM_004333.6(BRAF):c.918C>G (p.Ser306=) variant DOID:0080690 RASopathy IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Rasopathy PMID:25741868|PMID:28492532 10053015 CV195669 NM_004369.4(COL6A3):c.3063A>G (p.Pro1021=) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20190402 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:28492532 10053016 CV195670 NM_004385.5(VCAN):c.3957C>A (p.His1319Gln) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10053018 CV195673 NM_004385.5(VCAN):c.1707C>G (p.Ser569Arg) variant DOID:630 genetic disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10053019 CV195674 NM_001318510.2(ACSL4):c.806+3A>G variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10053020 CV195675 NM_004560.4(ROR2):c.1054A>G (p.Ser352Gly) variant DOID:0110969 brachydactyly type B1 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Brachydactyly type B1 PMID:25741868|PMID:28492532 10053021 CV195676 NM_004565.3(PEX14):c.575C>G (p.Ala192Gly) variant DOID:0080487 peroxisome biogenesis disorder 13A IAGP D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 13A PMID:25741868|PMID:28492532 10053021 CV195676 NM_004565.3(PEX14):c.575C>G (p.Ala192Gly) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10053021 CV195676 NM_004565.3(PEX14):c.575C>G (p.Ala192Gly) variant DOID:9006158 Peroxisome Biogenesis Disorder, Complementation Group K IAGP D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group K PMID:25741868|PMID:28492532 10053023 CV195678 NM_004595.5(SMS):c.661-5C>T variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10053024 CV195680 NM_004698.4(PRPF3):c.957T>C (p.Pro319=) variant DOID:0110356 retinitis pigmentosa 18 IAGP D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: PRPF3-related condition PMID:28492532 10053026 CV195682 NM_004727.3(SLC24A1):c.2778C>T (p.Pro926=) variant DOID:0110868 congenital stationary night blindness 1D IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness, type 1D PMID:28492532 10053027 CV195683 NM_004727.3(SLC24A1):c.2577C>T (p.Ser859=) variant DOID:0110868 congenital stationary night blindness 1D IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital stationary night blindness 1D PMID:28492532 10053028 CV195684 NM_004813.4(PEX16):c.543G>A (p.Thr181=) variant DOID:0050444 infantile Refsum disease IAGP D RGD:8554872 20221004 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:28492532 10053030 CV195687 NM_005045.4(RELN):c.697G>A (p.Ala233Thr) variant DOID:0060748 familial temporal lobe epilepsy 1 IAGP D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Epilepsy, lateral temporal lobe, autosomal dominant PMID:25741868|PMID:28492532 10053030 CV195687 NM_005045.4(RELN):c.697G>A (p.Ala233Thr) variant DOID:0060902 Norman-Roberts syndrome IAGP D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Lissencephaly 2 PMID:25741868|PMID:28492532 10053031 CV195688 NM_005199.5(CHRNG):c.775G>A (p.Ala259Thr) variant DOID:0081322 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B IAGP D RGD:8554872 20230228 ClinVar ClinVar Annotator: match by term: Autosomal recessive multiple pterygium syndrome PMID:28492532 10053031 CV195688 NM_005199.5(CHRNG):c.775G>A (p.Ala259Thr) variant DOID:9005962 Multiple Pterygium Syndrome, Lethal Type IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Lethal multiple pterygium syndrome PMID:28492532 10053032 CV195689 NM_001374353.1(GLI2):c.1120C>T (p.Arg374Cys) variant DOID:0080328 Culler-Jones syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: GLI2-related disorder PMID:25741868|PMID:28492532 10053032 CV195689 NM_001374353.1(GLI2):c.1120C>T (p.Arg374Cys) variant DOID:0110873 holoprosencephaly 9 IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 9 PMID:25741868|PMID:28492532 10053032 CV195689 NM_001374353.1(GLI2):c.1120C>T (p.Arg374Cys) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10053033 CV195690 NM_001374353.1(GLI2):c.1121G>A (p.Arg374His) variant DOID:0110873 holoprosencephaly 9 IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 9 PMID:16327884|PMID:28492532 10053035 CV195692 NM_005476.7(GNE):c.1117T>G (p.Phe373Val) variant DOID:0080718 GNE myopathy IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: GNE myopathy PMID:28492532 10053036 CV195693 NM_001374385.1(ATP8B1):c.607A>G (p.Lys203Glu) variant DOID:0070226 progressive familial intrahepatic cholestasis 1 IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Byler disease PMID:15657619|PMID:24033266|PMID:24260417|PMID:25741868|PMID:28492532|PMID:28924228|PMID:29238877|PMID:32650689|PMID:32695736|PMID:35894240 10053036 CV195693 NM_001374385.1(ATP8B1):c.607A>G (p.Lys203Glu) variant DOID:0070228 intrahepatic cholestasis of pregnancy 1 IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: CHOLESTASIS, PREGNANCY-RELATED, 1 PMID:15657619|PMID:24033266|PMID:24260417|PMID:25741868|PMID:28492532|PMID:28924228|PMID:29238877|PMID:32650689|PMID:32695736|PMID:35894240 10053036 CV195693 NM_001374385.1(ATP8B1):c.607A>G (p.Lys203Glu) variant DOID:0070231 benign recurrent intrahepatic cholestasis 1 IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Summerskill syndrome PMID:15657619|PMID:24033266|PMID:24260417|PMID:25741868|PMID:28492532|PMID:28924228|PMID:29238877|PMID:32650689|PMID:32695736|PMID:35894240 10053036 CV195693 NM_001374385.1(ATP8B1):c.607A>G (p.Lys203Glu) variant DOID:1852 intrahepatic cholestasis IAGP D RGD:8554872 20250821 ClinVar ClinVar Annotator: match by term: ATP8B1-related disorder PMID:15657619|PMID:24033266|PMID:24260417|PMID:25741868|PMID:28492532|PMID:28924228|PMID:29238877|PMID:32650689|PMID:32695736|PMID:35894240 10053037 CV195694 NM_005902.4(SMAD3):c.885G>A (p.Arg295=) variant DOID:0050466 Loeys-Dietz syndrome IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome PMID:25741868|PMID:28492532 10053037 CV195694 NM_005902.4(SMAD3):c.885G>A (p.Arg295=) variant DOID:0070237 Loeys-Dietz syndrome 3 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome, type 1C PMID:25741868|PMID:28492532 10053037 CV195694 NM_005902.4(SMAD3):c.885G>A (p.Arg295=) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection PMID:25741868|PMID:28492532 10053038 CV195695 NM_005957.5(MTHFR):c.1064C>T (p.Pro355Leu) variant DOID:0111907 thrombophilia due to thrombin defect IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: THROMBOPHILIA DUE TO FACTOR 2 DEFECT PMID:25741868 10053038 CV195695 NM_005957.5(MTHFR):c.1064C>T (p.Pro355Leu) variant DOID:5419 schizophrenia IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: SCHIZOPHRENIA WITH OR WITHOUT AN AFFECTIVE DISORDER PMID:25741868 10053038 CV195695 NM_005957.5(MTHFR):c.1064C>T (p.Pro355Leu) variant DOID:9001648 Methylenetetrahydrofolate Reductase Deficiency IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency PMID:25741868 10053038 CV195695 NM_005957.5(MTHFR):c.1064C>T (p.Pro355Leu) variant DOID:9001989 Folate-Sensitive Neural Tube Defects IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neural tube defects, folate-sensitive PMID:25741868 10053039 CV195696 NM_005957.5(MTHFR):c.1034G>A (p.Arg345His) variant DOID:9001648 Methylenetetrahydrofolate Reductase Deficiency IAGP D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency PMID:28492532 10053041 CV195698 NM_006019.4(TCIRG1):c.656T>C (p.Phe219Ser) variant DOID:0110942 autosomal recessive osteopetrosis 1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 1 PMID:25741868|PMID:28492532 10053043 CV195701 NM_001379110.1(SLC9A6):c.825C>G (p.Phe275Leu) variant DOID:0060825 Christianson syndrome IAGP D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Christianson syndrome 10053044 CV195702 NM_006363.6(SEC23B):c.773A>G (p.Gln258Arg) variant DOID:0081003 Cowden syndrome 7 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Cowden syndrome 7 PMID:28492532 10053044 CV195702 NM_006363.6(SEC23B):c.773A>G (p.Gln258Arg) variant DOID:0111401 congenital dyserythropoietic anemia type II IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: HEMPAS anemia PMID:28492532 10053045 CV195704 NM_006516.4(SLC2A1):c.972+7del variant DOID:0070560 glucose transporter type 1 deficiency syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Glucose transporter type 1 deficiency syndrome PMID:28492532 10053045 CV195704 NM_006516.4(SLC2A1):c.972+7del variant DOID:0070561 glucose transporter type 1 deficiency syndrome 1 IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: GLUT1 deficiency syndrome 1, autosomal recessive PMID:28492532 10053045 CV195704 NM_006516.4(SLC2A1):c.972+7del variant DOID:543 dystonia IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dystonia PMID:28492532 10053045 CV195704 NM_006516.4(SLC2A1):c.972+7del variant DOID:630 genetic disease IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10053047 CV195706 NM_006516.4(SLC2A1):c.906G>T (p.Gly302=) variant DOID:0070561 glucose transporter type 1 deficiency syndrome 1 IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: GLUT1 deficiency syndrome 1, autosomal recessive PMID:28492532 10053047 CV195706 NM_006516.4(SLC2A1):c.906G>T (p.Gly302=) variant DOID:0090044 dystonia 9 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Dystonia 9 PMID:28492532 10053048 CV195707 NM_001364905.1(LRBA):c.787C>G (p.Leu263Val) variant DOID:0081151 common variable immunodeficiency 8 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Common variable immunodeficiency 8, with autoimmunity PMID:28492532 10053049 CV195708 NM_006790.3(MYOT):c.981T>C (p.Asn327=) variant DOID:0080094 myofibrillar myopathy 3 IAGP D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 3 PMID:25741868|PMID:26467025|PMID:28492532 10053049 CV195708 NM_006790.3(MYOT):c.981T>C (p.Asn327=) variant DOID:0080307 myofibrillar myopathy IAGP D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Myofibrillar Myopathy, Dominant PMID:25741868|PMID:26467025|PMID:28492532 10053049 CV195708 NM_006790.3(MYOT):c.981T>C (p.Asn327=) variant DOID:11724 limb-girdle muscular dystrophy IAGP D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Dominant PMID:25741868|PMID:26467025|PMID:28492532 10053050 CV195710 NM_007254.4(PNKP):c.650C>G (p.Thr217Ser) variant DOID:0080457 microcephaly, seizures, and developmental delay IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Microcephaly, seizures, and developmental delay PMID:25741868|PMID:28492532 10053050 CV195710 NM_007254.4(PNKP):c.650C>G (p.Thr217Ser) variant DOID:0080459 developmental and epileptic encephalopathy 12 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12 PMID:25741868|PMID:28492532 10053050 CV195710 NM_007254.4(PNKP):c.650C>G (p.Thr217Ser) variant DOID:630 genetic disease IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10053052 CV195712 NM_012338.4(TSPAN12):c.469-12dup variant DOID:0050535 exudative vitreoretinopathy IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Familial exudative vitreoretinopathy PMID:28492532 10053053 CV195714 NM_013382.7(POMT2):c.891C>A (p.Thr297=) variant DOID:0110298 autosomal recessive limb-girdle muscular dystrophy type 2N IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2N PMID:28492532 10053053 CV195714 NM_013382.7(POMT2):c.891C>A (p.Thr297=) variant DOID:0111240 congenital muscular dystrophy-dystroglycanopathy type A2 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 PMID:28492532 10053054 CV195715 NM_013382.7(POMT2):c.890C>T (p.Thr297Ile) variant DOID:0111240 congenital muscular dystrophy-dystroglycanopathy type A2 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 PMID:25741868|PMID:28492532 10053054 CV195715 NM_013382.7(POMT2):c.890C>T (p.Thr297Ile) variant DOID:630 genetic disease IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10053055 CV195716 NM_013382.7(POMT2):c.884C>T (p.Thr295Ile) variant DOID:0111240 congenital muscular dystrophy-dystroglycanopathy type A2 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 PMID:25741868|PMID:28492532 10053057 CV195719 NM_014141.6(CNTNAP2):c.1051G>A (p.Ala351Thr) variant DOID:0090130 cortical dysplasia-focal epilepsy syndrome IAGP D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 1 PMID:28492532 10053058 CV195720 NM_014141.6(CNTNAP2):c.945C>G (p.Thr315=) variant DOID:0060488 Pitt-Hopkins syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome PMID:28492532 10053058 CV195720 NM_014141.6(CNTNAP2):c.945C>G (p.Thr315=) variant DOID:0090130 cortical dysplasia-focal epilepsy syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cortical dysplasia-focal epilepsy syndrome PMID:28492532 10053059 CV195721 NM_014141.6(CNTNAP2):c.1037A>G (p.Asn346Ser) variant DOID:0090130 cortical dysplasia-focal epilepsy syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 1 PMID:25741868|PMID:28492532 10053060 CV195722 NM_014141.6(CNTNAP2):c.1079A>G (p.Asn360Ser) variant DOID:0090130 cortical dysplasia-focal epilepsy syndrome IAGP D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 1 PMID:28492532 10053060 CV195722 NM_014141.6(CNTNAP2):c.1079A>G (p.Asn360Ser) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10053061 CV195723 NM_014467.3(SRPX2):c.693C>A (p.His231Gln) variant DOID:9008407 ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked PMID:25741868|PMID:28492532 10053063 CV195725 NM_015102.5(NPHP4):c.713C>A (p.Thr238Lys) variant DOID:0111115 nephronophthisis 4 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephronophthisis 4 PMID:25741868 10053064 CV195727 NM_015915.5(ATL1):c.631-7T>A variant DOID:0110791 hereditary spastic paraplegia 3A IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 3A PMID:28492532 10053065 CV195728 NM_015922.3(NSDHL):c.773C>T (p.Ser258Leu) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10053066 CV195730 NM_017617.5(NOTCH1):c.1100-8C>T variant DOID:9005781 Adams-Oliver Syndrome 5 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: NOTCH1-related disorder PMID:28492532 10053067 CV195732 NM_017739.4(POMGNT1):c.549C>T (p.Phe183=) variant DOID:0050560 Walker-Warburg syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Muscle eye brain disease PMID:28492532 10053067 CV195732 NM_017739.4(POMGNT1):c.549C>T (p.Phe183=) variant DOID:0110292 autosomal recessive limb-girdle muscular dystrophy type 2O IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C3 PMID:28492532 10053067 CV195732 NM_017739.4(POMGNT1):c.549C>T (p.Phe183=) variant DOID:0112378 muscular dystrophy-dystroglycanopathy type B3 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, POMGNT1-RELATED PMID:28492532 10053068 CV195733 NM_001123385.2(BCOR):c.3446C>T (p.Ala1149Val) variant DOID:0111809 syndromic microphthalmia 2 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Oculofaciocardiodental syndrome PMID:28492532 10053069 CV195734 NM_017882.3(CLN6):c.923G>C (p.Ser308Thr) variant DOID:0110729 neuronal ceroid lipofuscinosis 6A IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 6 PMID:21549341|PMID:25359263|PMID:25741868|PMID:28492532 10053069 CV195734 NM_017882.3(CLN6):c.923G>C (p.Ser308Thr) variant DOID:14503 neuronal ceroid lipofuscinosis IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:21549341|PMID:25359263|PMID:25741868|PMID:28492532 10053069 CV195734 NM_017882.3(CLN6):c.923G>C (p.Ser308Thr) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21549341|PMID:25359263|PMID:25741868|PMID:28492532 10053074 CV195741 NM_020631.6(PLEKHG5):c.518G>A (p.Arg173Gln) variant DOID:0111213 autosomal recessive distal hereditary motor neuronopathy 4 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 4 PMID:25741868|PMID:28492532 10053075 CV195744 NM_020975.6(RET):c.1300A>G (p.Ser434Gly) variant DOID:0050430 multiple endocrine neoplasia type 2A IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2 PMID:25741868|PMID:28492532 10053075 CV195744 NM_020975.6(RET):c.1300A>G (p.Ser434Gly) variant DOID:10487 Hirschsprung's disease IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:25741868|PMID:28492532 10053075 CV195744 NM_020975.6(RET):c.1300A>G (p.Ser434Gly) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532 10053077 CV195749 NM_024120.5(NDUFAF5):c.585T>C (p.Tyr195=) variant DOID:0060536 mitochondrial complex I deficiency IAGP D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency PMID:28492532 10053078 CV195751 NM_024426.6(WT1):c.1131T>C (p.Pro377=) variant DOID:0080383 nephrotic syndrome type 4 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Nephrotic syndrome, type 4 PMID:25741868|PMID:26467025|PMID:28492532 10053078 CV195751 NM_024426.6(WT1):c.1131T>C (p.Pro377=) variant DOID:2154 nephroblastoma IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Wilms tumor 1 PMID:25741868|PMID:26467025|PMID:28492532 10053078 CV195751 NM_024426.6(WT1):c.1131T>C (p.Pro377=) variant DOID:3764 Denys-Drash syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Drash syndrome PMID:25741868|PMID:26467025|PMID:28492532 10053078 CV195751 NM_024426.6(WT1):c.1131T>C (p.Pro377=) variant DOID:630 genetic disease IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 10053078 CV195751 NM_024426.6(WT1):c.1131T>C (p.Pro377=) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:26467025|PMID:28492532 10053078 CV195751 NM_024426.6(WT1):c.1131T>C (p.Pro377=) variant DOID:9007195 Meacham Winn Culler Syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Meacham syndrome PMID:25741868|PMID:26467025|PMID:28492532 10053079 CV195753 NM_001191061.2(SLC25A22):c.579G>A (p.Thr193=) variant DOID:0080440 developmental and epileptic encephalopathy 3 IAGP D RGD:8554872 20250819 ClinVar ClinVar Annotator: match by term: SLC25A22-related disorder PMID:28492532 10053079 CV195753 NM_001191061.2(SLC25A22):c.579G>A (p.Thr193=) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 10053079 CV195753 NM_001191061.2(SLC25A22):c.579G>A (p.Thr193=) variant DOID:630 genetic disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10053080 CV195755 NM_205861.3(DHDDS):c.591T>G (p.Ser197=) variant DOID:0110352 retinitis pigmentosa 59 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 59 PMID:28492532 10053082 CV195758 NM_031433.4(MFRP):c.898+4C>T variant DOID:0060837 isolated microphthalmia 5 IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Microphthalmia, isolated 5 PMID:17576681|PMID:28492532|PMID:9536098 10053083 CV195759 NM_032119.4(ADGRV1):c.1140A>G (p.Gln380=) variant DOID:0111305 familial febrile seizures 4 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: ADGRV1-related disorder PMID:28492532 10053085 CV195761 NM_001015877.2(PHF6):c.688A>G (p.Ile230Val) variant DOID:0050681 Borjeson-Forssman-Lehmann syndrome IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Borjeson-Forssman-Lehmann syndrome PMID:25741868 10053086 CV195763 NM_032634.4(PIGO):c.2268G>A (p.Ala756=) variant DOID:0070434 hyperphosphatasia with impaired intellectual development syndrome 2 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 2 PMID:26467025|PMID:28492532 10053088 CV195765 NM_033100.4(CDHR1):c.526-7C>G variant DOID:0050572 cone-rod dystrophy IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive PMID:28492532 10053088 CV195765 NM_033100.4(CDHR1):c.526-7C>G variant DOID:0111021 cone-rod dystrophy 15 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 15 PMID:28492532 10053089 CV195766 NM_053025.4(MYLK):c.571C>G (p.Gln191Glu) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:28492532 10053089 CV195766 NM_053025.4(MYLK):c.571C>G (p.Gln191Glu) variant DOID:9006750 Familial Thoracic Aortic Aneurysm 7 IAGP D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 PMID:28492532 10053091 CV195770 NM_080680.3(COL11A2):c.889G>A (p.Gly297Ser) variant DOID:0050563 nonsyndromic deafness IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Non-syndromic genetic deafness PMID:24033266|PMID:25633957|PMID:25741868|PMID:28492532 10053091 CV195770 NM_080680.3(COL11A2):c.889G>A (p.Gly297Ser) variant DOID:0080026 otospondylomegaepiphyseal dysplasia, autosomal recessive IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Insley-Astley syndrome PMID:24033266|PMID:25633957|PMID:25741868|PMID:28492532 10053091 CV195770 NM_080680.3(COL11A2):c.889G>A (p.Gly297Ser) variant DOID:0080673 fibrochondrogenesis 2 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Fibrochondrogenesis 2 PMID:24033266|PMID:25633957|PMID:25741868|PMID:28492532 10053091 CV195770 NM_080680.3(COL11A2):c.889G>A (p.Gly297Ser) variant DOID:0080677 otospondylomegaepiphyseal dysplasia, autosomal dominant IAGP D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Otospondylomegaepiphyseal dysplasia, autosomal dominant PMID:24033266|PMID:25633957|PMID:25741868|PMID:28492532 10053091 CV195770 NM_080680.3(COL11A2):c.889G>A (p.Gly297Ser) variant DOID:0110509 autosomal recessive nonsyndromic deafness 53 IAGP D RGD:8554872 20250729 ClinVar ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 53 PMID:24033266|PMID:25633957|PMID:25741868|PMID:28492532 10053091 CV195770 NM_080680.3(COL11A2):c.889G>A (p.Gly297Ser) variant DOID:0110545 autosomal dominant nonsyndromic deafness 13 IAGP D RGD:8554872 20250723 ClinVar ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 13 PMID:24033266|PMID:25633957|PMID:25741868|PMID:28492532 10053091 CV195770 NM_080680.3(COL11A2):c.889G>A (p.Gly297Ser) variant DOID:65 connective tissue disease IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:24033266|PMID:25633957|PMID:25741868|PMID:28492532 10053092 CV195771 NM_001177316.2(SLC34A3):c.575C>T (p.Ser192Leu) variant DOID:0050947 hereditary hypophosphatemic rickets with hypercalciuria IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: SLC34A3-related condition PMID:16358214|PMID:16358215|PMID:18996815|PMID:19820004|PMID:25741868|PMID:28492532|PMID:30798342|PMID:36596813 10053093 CV195772 NM_001177316.2(SLC34A3):c.698C>T (p.Ala233Val) variant DOID:0050947 hereditary hypophosphatemic rickets with hypercalciuria IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hypophosphatemic rickets with hypercalciuria PMID:25741868|PMID:28492532 10053094 CV195774 NM_001370259.2(MEN1):c.982C>G (p.His328Asp) variant DOID:10017 multiple endocrine neoplasia type 1 IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 PMID:28492532 10053094 CV195774 NM_001370259.2(MEN1):c.982C>G (p.His328Asp) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:28492532 10053095 CV195775 NM_001267550.2(TTN):c.1050C>T (p.Tyr350=) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10053095 CV195775 NM_001267550.2(TTN):c.1050C>T (p.Tyr350=) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Myopathy, early-onset, with fatal cardiomyopathy PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10053095 CV195775 NM_001267550.2(TTN):c.1050C>T (p.Tyr350=) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2J PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10053095 CV195775 NM_001267550.2(TTN):c.1050C>T (p.Tyr350=) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10053095 CV195775 NM_001267550.2(TTN):c.1050C>T (p.Tyr350=) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10053095 CV195775 NM_001267550.2(TTN):c.1050C>T (p.Tyr350=) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10053096 CV195776 NM_138694.4(PKHD1):c.449-6A>T variant DOID:0110861 autosomal recessive polycystic kidney disease IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease PMID:28492532 10053097 CV195779 NM_001371596.2(MFSD8):c.656T>C (p.Phe219Ser) variant DOID:0110722 neuronal ceroid lipofuscinosis 7 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Ceroid lipofuscinosis neuronal 7 PMID:28492532 10053097 CV195779 NM_001371596.2(MFSD8):c.656T>C (p.Phe219Ser) variant DOID:0110726 neuronal ceroid lipofuscinosis 2 IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis PMID:28492532 10053097 CV195779 NM_001371596.2(MFSD8):c.656T>C (p.Phe219Ser) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10053098 CV195781 NM_153026.3(PRICKLE1):c.1248G>A (p.Thr416=) variant DOID:0111448 progressive myoclonus epilepsy 1B IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Progressive myoclonus epilepsy with ataxia PMID:25741868|PMID:28492532 10053099 CV195782 NM_153026.3(PRICKLE1):c.1435G>A (p.Gly479Arg) variant DOID:0111448 progressive myoclonus epilepsy 1B IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Progressive myoclonus epilepsy with ataxia PMID:28492532 10053100 CV195783 NM_173660.5(DOK7):c.1305C>T (p.Gly435=) variant DOID:0111377 fetal akinesia deformation sequence syndrome 1 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Fetal akinesia sequence PMID:28492532 10053101 CV195784 NM_173660.5(DOK7):c.1403_1408del (p.Gly468_Pro469del) variant DOID:0111377 fetal akinesia deformation sequence syndrome 1 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:25741868|PMID:28492532 10053102 CV195785 NM_173660.5(DOK7):c.994C>T (p.Arg332Cys) variant DOID:0111377 fetal akinesia deformation sequence syndrome 1 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Pena-Shokeir syndrome type I PMID:28492532 10053102 CV195785 NM_173660.5(DOK7):c.994C>T (p.Arg332Cys) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10053103 CV195786 NM_173660.5(DOK7):c.1313C>G (p.Thr438Arg) variant DOID:0110668 congenital myasthenic syndrome 10 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome 10 PMID:28492532 10053103 CV195786 NM_173660.5(DOK7):c.1313C>G (p.Thr438Arg) variant DOID:0111376 fetal akinesia deformation sequence syndrome 3 IAGP D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: DOK7-related condition PMID:28492532 10053103 CV195786 NM_173660.5(DOK7):c.1313C>G (p.Thr438Arg) variant DOID:0111377 fetal akinesia deformation sequence syndrome 1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 PMID:28492532 10053103 CV195786 NM_173660.5(DOK7):c.1313C>G (p.Thr438Arg) variant DOID:3635 congenital myasthenic syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Myasthenia, limb-girdle, familial PMID:28492532 10053104 CV195788 NM_173660.5(DOK7):c.918C>T (p.Ala306=) variant DOID:0111377 fetal akinesia deformation sequence syndrome 1 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Pena-Shokeir syndrome type I PMID:25741868|PMID:28492532 10053105 CV195789 NM_173660.5(DOK7):c.1305C>A (p.Gly435=) variant DOID:0111377 fetal akinesia deformation sequence syndrome 1 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Pena-Shokeir syndrome type I PMID:28492532 10053106 CV195791 NM_178170.3(NEK8):c.1055G>T (p.Arg352Leu) variant DOID:0111120 nephronophthisis 9 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Nephronophthisis 9 PMID:25741868|PMID:28492532|PMID:30384889 10053107 CV195793 NM_198859.4(PRICKLE2):c.1047G>T (p.Glu349Asp) variant DOID:9008631 progressive myoclonus epilepsy 5 IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 5 PMID:28492532 10053108 CV195794 NM_201253.3(CRB1):c.2462C>T (p.Thr821Met) variant DOID:0110079 Leber congenital amaurosis 8 IAGP D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 8 PMID:17964524|PMID:25741868|PMID:27884173|PMID:28492532 10053108 CV195794 NM_201253.3(CRB1):c.2462C>T (p.Thr821Met) variant DOID:0110358 retinitis pigmentosa 12 IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 12 PMID:17964524|PMID:25741868|PMID:27884173|PMID:28492532 10053108 CV195794 NM_201253.3(CRB1):c.2462C>T (p.Thr821Met) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:17964524|PMID:25741868|PMID:27884173|PMID:28492532 10053109 CV195795 NM_201384.3(PLEC):c.634C>T (p.Arg212Trp) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy PMID:25741868|PMID:28492532 10053110 CV195798 NM_207346.3(TSEN54):c.622C>T (p.Arg208Trp) variant DOID:0060273 pontocerebellar hypoplasia type 4 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 4 PMID:25741868|PMID:28492532 10053111 CV195799 NM_004006.3(DMD):c.10128A>G (p.Leu3376=) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:28492532 10053111 CV195799 NM_004006.3(DMD):c.10128A>G (p.Leu3376=) variant DOID:11723 Duchenne muscular dystrophy IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:28492532 10053111 CV195799 NM_004006.3(DMD):c.10128A>G (p.Leu3376=) variant DOID:9883 Becker muscular dystrophy IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Becker muscular dystrophy PMID:28492532 10053113 CV195801 NM_022124.6(CDH23):c.10021C>T (p.Arg3341Cys) variant DOID:0050439 Usher syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness PMID:24033266|PMID:25741868|PMID:28492532 10053113 CV195801 NM_022124.6(CDH23):c.10021C>T (p.Arg3341Cys) variant DOID:0110467 autosomal recessive nonsyndromic deafness 12 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 12 PMID:24033266|PMID:25741868|PMID:28492532 10053113 CV195801 NM_022124.6(CDH23):c.10021C>T (p.Arg3341Cys) variant DOID:0110826 Usher syndrome type 1 IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1 PMID:24033266|PMID:25741868|PMID:28492532 10053113 CV195801 NM_022124.6(CDH23):c.10021C>T (p.Arg3341Cys) variant DOID:0110831 Usher syndrome type 1D IAGP D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1D PMID:24033266|PMID:25741868|PMID:28492532 10053113 CV195801 NM_022124.6(CDH23):c.10021C>T (p.Arg3341Cys) variant DOID:0112008 pituitary adenoma 5 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pituitary adenoma 5, multiple types PMID:24033266|PMID:25741868|PMID:28492532 10053113 CV195801 NM_022124.6(CDH23):c.10021C>T (p.Arg3341Cys) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 10053113 CV195801 NM_022124.6(CDH23):c.10021C>T (p.Arg3341Cys) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:24033266|PMID:25741868|PMID:28492532 10053114 CV195802 NM_022124.6(CDH23):c.10036G>C (p.Glu3346Gln) variant DOID:0050439 Usher syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness PMID:28492532 10053114 CV195802 NM_022124.6(CDH23):c.10036G>C (p.Glu3346Gln) variant DOID:0110467 autosomal recessive nonsyndromic deafness 12 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 12 PMID:28492532 10053114 CV195802 NM_022124.6(CDH23):c.10036G>C (p.Glu3346Gln) variant DOID:0110826 Usher syndrome type 1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1 PMID:28492532 10053114 CV195802 NM_022124.6(CDH23):c.10036G>C (p.Glu3346Gln) variant DOID:0110831 Usher syndrome type 1D IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Usher syndrome type 1D PMID:28492532 10053117 CV195805 NM_182914.3(SYNE2):c.13377C>G (p.Leu4459=) variant DOID:0070250 autosomal dominant Emery-Dreifuss muscular dystrophy 5 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 5, autosomal dominant PMID:28492532 10053118 CV195806 NM_000540.3(RYR1):c.10504C>T (p.Arg3502Trp) variant DOID:8545 malignant hyperthermia IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Malignant hyperpyrexia PMID:25741868|PMID:28492532 10053118 CV195806 NM_000540.3(RYR1):c.10504C>T (p.Arg3502Trp) variant DOID:9005320 Malignant Fever IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Pharmacogenic myopathy PMID:25741868|PMID:28492532 10053119 CV195808 NM_182961.4(SYNE1):c.11691T>C (p.Asp3897=) variant DOID:0111618 autosomal recessive spinocerebellar ataxia 8 IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 PMID:28492532 10053121 CV195811 NM_001277115.2(DNAH11):c.11691-20dup variant DOID:0110605 primary ciliary dyskinesia 7 IAGP D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 7 PMID:25741868 10053123 CV195814 NM_182961.4(SYNE1):c.11936G>A (p.Arg3979His) variant DOID:0111618 autosomal recessive spinocerebellar ataxia 8 IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 PMID:28492532 10053125 CV195817 NM_032119.4(ADGRV1):c.14970C>A (p.Leu4990=) variant DOID:0111305 familial febrile seizures 4 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: ADGRV1-related disorder PMID:28492532 10053126 CV195818 NM_001267550.2(TTN):c.22145_22146del (p.Val7381_Phe7382insTer) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23975875|PMID:25589632|PMID:27869827|PMID:28492532|PMID:32964742 10053127 CV195819 NM_000540.3(RYR1):c.10917G>A (p.Thr3639=) variant DOID:8545 malignant hyperthermia IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Malignant hyperpyrexia PMID:25741868|PMID:28492532 10053127 CV195819 NM_000540.3(RYR1):c.10917G>A (p.Thr3639=) variant DOID:9005320 Malignant Fever IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Pharmacogenic myopathy PMID:25741868|PMID:28492532 10053130 CV195822 NM_032119.4(ADGRV1):c.15145G>A (p.Ala5049Thr) variant DOID:0110839 Usher syndrome type 2C IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2C PMID:24033266|PMID:25741868|PMID:28492532 10053132 CV195824 NM_182914.3(SYNE2):c.13918-6T>C variant DOID:0070250 autosomal dominant Emery-Dreifuss muscular dystrophy 5 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 5 PMID:28492532 10053134 CV195827 NM_032119.4(ADGRV1):c.16331C>A (p.Thr5444Lys) variant DOID:0110839 Usher syndrome type 2C IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2C PMID:23934111|PMID:25741868|PMID:26467025|PMID:26969326|PMID:28492532|PMID:3442652|PMID:35813073 10053134 CV195827 NM_032119.4(ADGRV1):c.16331C>A (p.Thr5444Lys) variant DOID:0111305 familial febrile seizures 4 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: ADGRV1-related disorder PMID:23934111|PMID:25741868|PMID:26467025|PMID:26969326|PMID:28492532|PMID:3442652|PMID:35813073 10053134 CV195827 NM_032119.4(ADGRV1):c.16331C>A (p.Thr5444Lys) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:23934111|PMID:25741868|PMID:26467025|PMID:26969326|PMID:28492532|PMID:3442652|PMID:35813073 10053135 CV195828 NM_182961.4(SYNE1):c.12564C>T (p.Ser4188=) variant DOID:0070249 autosomal dominant Emery-Dreifuss muscular dystrophy 4 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant PMID:26467025|PMID:28492532 10053135 CV195828 NM_182961.4(SYNE1):c.12564C>T (p.Ser4188=) variant DOID:0111618 autosomal recessive spinocerebellar ataxia 8 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 PMID:26467025|PMID:28492532 10053137 CV195832 NM_182961.4(SYNE1):c.14263C>T (p.Leu4755Phe) variant DOID:0070249 autosomal dominant Emery-Dreifuss muscular dystrophy 4 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES PMID:21572417|PMID:24892279|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29590070|PMID:31692161|PMID:35588347|PMID:37926714|PMID:38716726 10053137 CV195832 NM_182961.4(SYNE1):c.14263C>T (p.Leu4755Phe) variant DOID:0080979 arthrogryposis multiplex congenita-3 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, MYOGENIC TYPE PMID:21572417|PMID:24892279|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29590070|PMID:31692161|PMID:35588347|PMID:37926714|PMID:38716726 10053137 CV195832 NM_182961.4(SYNE1):c.14263C>T (p.Leu4755Phe) variant DOID:0111618 autosomal recessive spinocerebellar ataxia 8 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 PMID:21572417|PMID:24892279|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29590070|PMID:31692161|PMID:35588347|PMID:37926714|PMID:38716726 10053138 CV195833 NM_182961.4(SYNE1):c.14769A>G (p.Glu4923=) variant DOID:0070249 autosomal dominant Emery-Dreifuss muscular dystrophy 4 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant PMID:26467025|PMID:28492532 10053138 CV195833 NM_182961.4(SYNE1):c.14769A>G (p.Glu4923=) variant DOID:0111618 autosomal recessive spinocerebellar ataxia 8 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 PMID:26467025|PMID:28492532 10053139 CV195834 NM_182961.4(SYNE1):c.13572C>T (p.Val4524=) variant DOID:0070249 autosomal dominant Emery-Dreifuss muscular dystrophy 4 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant PMID:26467025|PMID:28492532 10053139 CV195834 NM_182961.4(SYNE1):c.13572C>T (p.Val4524=) variant DOID:0111618 autosomal recessive spinocerebellar ataxia 8 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 PMID:26467025|PMID:28492532 10053141 CV195836 NM_182961.4(SYNE1):c.13101C>T (p.Ile4367=) variant DOID:0070249 autosomal dominant Emery-Dreifuss muscular dystrophy 4 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES PMID:26467025|PMID:28492532 10053141 CV195836 NM_182961.4(SYNE1):c.13101C>T (p.Ile4367=) variant DOID:0111618 autosomal recessive spinocerebellar ataxia 8 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 PMID:26467025|PMID:28492532 10053145 CV195840 NM_001164508.2(NEB):c.16817A>G (p.Tyr5606Cys) variant DOID:0110928 nemaline myopathy 2 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 2 PMID:25741868|PMID:28492532 10053145 CV195840 NM_001164508.2(NEB):c.16817A>G (p.Tyr5606Cys) variant DOID:630 genetic disease IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10053146 CV195842 NM_182961.4(SYNE1):c.15337G>A (p.Val5113Ile) variant DOID:0070249 autosomal dominant Emery-Dreifuss muscular dystrophy 4 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant PMID:25741868|PMID:26467025|PMID:28074886|PMID:28492532|PMID:28750076|PMID:29625556 10053146 CV195842 NM_182961.4(SYNE1):c.15337G>A (p.Val5113Ile) variant DOID:0111618 autosomal recessive spinocerebellar ataxia 8 IAGP D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 PMID:25741868|PMID:26467025|PMID:28074886|PMID:28492532|PMID:28750076|PMID:29625556 10053147 CV195843 NM_182914.3(SYNE2):c.14792A>G (p.Lys4931Arg) variant DOID:0070250 autosomal dominant Emery-Dreifuss muscular dystrophy 5 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: SYNE2-related condition PMID:25741868|PMID:28492532 10053148 CV195849 NM_000033.4(ABCD1):c.1818G>A (p.Ser606=) variant DOID:10588 adrenoleukodystrophy IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Adrenoleukodystrophy PMID:25741868|PMID:28492532 10053148 CV195849 NM_000033.4(ABCD1):c.1818G>A (p.Ser606=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10053150 CV195851 NM_000070.3(CAPN3):c.1076C>T (p.Pro359Leu) variant DOID:0110274 autosomal recessive limb-girdle muscular dystrophy IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy PMID:17596655|PMID:22926650|PMID:25741868|PMID:28492532|PMID:30564623|PMID:32528171|PMID:34355366 10053150 CV195851 NM_000070.3(CAPN3):c.1076C>T (p.Pro359Leu) variant DOID:0110275 autosomal recessive limb-girdle muscular dystrophy type 2A IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2A PMID:17596655|PMID:22926650|PMID:25741868|PMID:28492532|PMID:30564623|PMID:32528171|PMID:34355366 10053150 CV195851 NM_000070.3(CAPN3):c.1076C>T (p.Pro359Leu) variant DOID:9006843 Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 4 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, autosomal dominant 4 PMID:17596655|PMID:22926650|PMID:25741868|PMID:28492532|PMID:30564623|PMID:32528171|PMID:34355366 10053152 CV195854 NM_181486.4(TBX5):c.787G>A (p.Val263Met) variant DOID:0060468 Holt-Oram syndrome IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Holt-Oram syndrome PMID:18706711|PMID:21637475|PMID:25260786|PMID:25623069|PMID:25680289|PMID:25741868|PMID:26219450|PMID:26401820|PMID:26859351|PMID:28492532 10053152 CV195854 NM_181486.4(TBX5):c.787G>A (p.Val263Met) variant DOID:0080334 aortic valve disease 2 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Aortic valve disease 2 PMID:18706711|PMID:21637475|PMID:25260786|PMID:25623069|PMID:25680289|PMID:25741868|PMID:26219450|PMID:26401820|PMID:26859351|PMID:28492532 10053153 CV195857 NM_000203.5(IDUA):c.1163C>A (p.Thr388Lys) variant DOID:0060222 Scheie syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Scheie Syndrome PMID:14516901|PMID:17606547|PMID:21253827|PMID:21963080|PMID:25741868|PMID:27520059|PMID:28492532|PMID:28752568|PMID:31194252 10053153 CV195857 NM_000203.5(IDUA):c.1163C>A (p.Thr388Lys) variant DOID:0111389 mucopolysaccharidosis Ih/s IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS TYPE IH/S PMID:14516901|PMID:17606547|PMID:21253827|PMID:21963080|PMID:25741868|PMID:27520059|PMID:28492532|PMID:28752568|PMID:31194252 10053153 CV195857 NM_000203.5(IDUA):c.1163C>A (p.Thr388Lys) variant DOID:0111390 mucopolysaccharidosis Ih IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hurler syndrome PMID:14516901|PMID:17606547|PMID:21253827|PMID:21963080|PMID:25741868|PMID:27520059|PMID:28492532|PMID:28752568|PMID:31194252 10053153 CV195857 NM_000203.5(IDUA):c.1163C>A (p.Thr388Lys) variant DOID:12802 mucopolysaccharidosis I IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 PMID:14516901|PMID:17606547|PMID:21253827|PMID:21963080|PMID:25741868|PMID:27520059|PMID:28492532|PMID:28752568|PMID:31194252 10053154 CV195859 NM_000214.3(JAG1):c.1101C>T (p.Thr367=) variant DOID:9003698 ALAGILLE SYNDROME 1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Alagille syndrome 1 PMID:28492532 10053154 CV195859 NM_000214.3(JAG1):c.1101C>T (p.Thr367=) variant DOID:9245 Alagille syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: HEPATIC DUCTULAR HYPOPLASIA, SYNDROMATIC PMID:28492532 10053155 CV195861 NM_000235.4(LIPA):c.889A>G (p.Ser297Gly) variant DOID:0080217 lysosomal acid lipase deficiency IAGP D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Acid lipase disease PMID:25741868|PMID:28492532 10053155 CV195861 NM_000235.4(LIPA):c.889A>G (p.Ser297Gly) variant DOID:14497 Wolman disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Wolman disease PMID:25741868|PMID:28492532 10053155 CV195861 NM_000235.4(LIPA):c.889A>G (p.Ser297Gly) variant DOID:14502 cholesterol ester storage disease IAGP D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: LIPA-related condition PMID:25741868|PMID:28492532 10053155 CV195861 NM_000235.4(LIPA):c.889A>G (p.Ser297Gly) variant DOID:9004186 Wolman Disease with Hypolipoproteinemia and Acanthocytosis IAGP D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Wolman disease with hypolipoproteinemia and acanthocytosis PMID:25741868|PMID:28492532 10053156 CV195865 NM_001128178.3(NPHP1):c.771+134G>A variant DOID:0111112 nephronophthisis 1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: juvenile nephronophthisis PMID:28492532 10053156 CV195865 NM_001128178.3(NPHP1):c.771+134G>A variant DOID:12712 nephronophthisis IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:28492532 10053156 CV195865 NM_001128178.3(NPHP1):c.771+134G>A variant DOID:630 genetic disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10053157 CV195866 NM_000274.4(OAT):c.969C>T (p.Tyr323=) variant DOID:1415 gyrate atrophy IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Gyrate atrophy PMID:28492532 10053158 CV195870 NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) variant DOID:0050444 infantile Refsum disease IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:16530715|PMID:19105186|PMID:19877282|PMID:21031596|PMID:25079577|PMID:25079599|PMID:25741868|PMID:26287655|PMID:26387595|PMID:26943801|PMID:27302843|PMID:27848944|PMID:28492532|PMID:29676688|PMID:30476936|PMID:31216405|PMID:31374812|PMID:31831025|PMID:31884617|PMID:33003980|PMID:33776059|PMID:34234304|PMID:36785559 10053158 CV195870 NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) variant DOID:0080479 peroxisome biogenesis disorder 4A IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 4A (Zellweger) PMID:16530715|PMID:19105186|PMID:19877282|PMID:21031596|PMID:25079577|PMID:25079599|PMID:25741868|PMID:26287655|PMID:26387595|PMID:26943801|PMID:27302843|PMID:27848944|PMID:28492532|PMID:29676688|PMID:30476936|PMID:31216405|PMID:31374812|PMID:31831025|PMID:31884617|PMID:33003980|PMID:33776059|PMID:34234304|PMID:36785559 10053158 CV195870 NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) variant DOID:0080624 Heimler syndrome 2 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Heimler syndrome 2 PMID:16530715|PMID:19105186|PMID:19877282|PMID:21031596|PMID:25079577|PMID:25079599|PMID:25741868|PMID:26287655|PMID:26387595|PMID:26943801|PMID:27302843|PMID:27848944|PMID:28492532|PMID:29676688|PMID:30476936|PMID:31216405|PMID:31374812|PMID:31831025|PMID:31884617|PMID:33003980|PMID:33776059|PMID:34234304|PMID:36785559 10053158 CV195870 NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) variant DOID:0081433 Peroxisome biogenesis disorder 4B IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 4B PMID:16530715|PMID:19105186|PMID:19877282|PMID:21031596|PMID:25079577|PMID:25079599|PMID:25741868|PMID:26287655|PMID:26387595|PMID:26943801|PMID:27302843|PMID:27848944|PMID:28492532|PMID:29676688|PMID:30476936|PMID:31216405|PMID:31374812|PMID:31831025|PMID:31884617|PMID:33003980|PMID:33776059|PMID:34234304|PMID:36785559 10053158 CV195870 NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:16530715|PMID:19105186|PMID:19877282|PMID:21031596|PMID:25079577|PMID:25079599|PMID:25741868|PMID:26287655|PMID:26387595|PMID:26943801|PMID:27302843|PMID:27848944|PMID:28492532|PMID:29676688|PMID:30476936|PMID:31216405|PMID:31374812|PMID:31831025|PMID:31884617|PMID:33003980|PMID:33776059|PMID:34234304|PMID:36785559 10053159 CV195874 NM_000303.3(PMM2):c.647A>G (p.Asn216Ser) variant DOID:0080552 congenital disorder of glycosylation Ia IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: PMM2-congenital disorder of glycosylation PMID:11058896|PMID:11875054|PMID:12905014|PMID:25355454|PMID:25741868|PMID:28122681|PMID:28492532|PMID:9140401 10053160 CV195875 NM_000303.3(PMM2):c.713G>A (p.Arg238His) variant DOID:0080552 congenital disorder of glycosylation Ia IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: PMM2-congenital disorder of glycosylation PMID:25741868|PMID:27231023|PMID:28492532|PMID:34132027|PMID:34652821|PMID:36099812|PMID:37372416|PMID:38959600 10053162 CV195878 NM_000337.6(SGCD):c.632A>G (p.Asn211Ser) variant DOID:0110280 autosomal recessive limb-girdle muscular dystrophy type 2F IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2F PMID:25741868|PMID:28492532 10053162 CV195878 NM_000337.6(SGCD):c.632A>G (p.Asn211Ser) variant DOID:0110436 dilated cardiomyopathy 1L IAGP D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1L PMID:25741868|PMID:28492532 10053164 CV195880 NM_000350.3(ABCA4):c.872C>T (p.Pro291Leu) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:20029649|PMID:22328824|PMID:25741868|PMID:26780318|PMID:28492532|PMID:29555955|PMID:29925512|PMID:31456290|PMID:31816670 10053165 CV195884 NM_000382.3(ALDH3A2):c.1108-3C>T variant DOID:14501 Sjogren-Larsson syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: ALDH3A2-related condition PMID:28492532 10053166 CV195885 NM_000390.4(CHM):c.957A>G (p.Thr319=) variant DOID:9821 Choroideremia IAGP D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Choroideremia PMID:28492532 10053167 CV195886 NM_000391.4(TPP1):c.1016G>A (p.Arg339Gln) variant DOID:0110726 neuronal ceroid lipofuscinosis 2 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 2 PMID:22832778|PMID:23266810|PMID:24091540|PMID:25741868|PMID:28492532 10053170 CV195893 NM_000455.5(STK11):c.1069G>A (p.Glu357Lys) variant DOID:3852 Peutz-Jeghers syndrome IAGP D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Peutz-Jeghers syndrome PMID:25741868|PMID:26467025|PMID:28196074|PMID:28492532 10053170 CV195893 NM_000455.5(STK11):c.1069G>A (p.Glu357Lys) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:26467025|PMID:28196074|PMID:28492532 10053171 CV195894 NM_000487.6(ARSA):c.1334G>T (p.Gly445Val) variant DOID:10581 metachromatic leukodystrophy IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:25741868|PMID:28492532|PMID:37480112 10053171 CV195894 NM_000487.6(ARSA):c.1334G>T (p.Gly445Val) variant DOID:630 genetic disease IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532|PMID:37480112 10053172 CV195895 NM_000487.6(ARSA):c.1447G>A (p.Glu483Lys) variant DOID:10581 metachromatic leukodystrophy IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:25741868|PMID:28492532|PMID:37480112 10053174 CV195898 NM_000492.4(CFTR):c.902A>G (p.Tyr301Cys) variant DOID:0080526 bronchiectasis 1 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1 PMID:11168024|PMID:11303517|PMID:11354633|PMID:16617247|PMID:19324992|PMID:23276700|PMID:24784896|PMID:25741868|PMID:25963003|PMID:26436105|PMID:26467025|PMID:28040058|PMID:28492532|PMID:31655510|PMID:32357917|PMID:33572515|PMID:33836782|PMID:34850610|PMID:36409994|PMID:36986509|PMID:9915972|PMID:9921909 10053174 CV195898 NM_000492.4(CFTR):c.902A>G (p.Tyr301Cys) variant DOID:0111864 autosomal recessive congenital bilateral absence of vas deferens IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Congenital bilateral aplasia of vas deferens from CFTR mutation PMID:11168024|PMID:11303517|PMID:11354633|PMID:16617247|PMID:19324992|PMID:23276700|PMID:24784896|PMID:25741868|PMID:25963003|PMID:26436105|PMID:26467025|PMID:28040058|PMID:28492532|PMID:31655510|PMID:32357917|PMID:33572515|PMID:33836782|PMID:34850610|PMID:36409994|PMID:36986509|PMID:9915972|PMID:9921909 10053174 CV195898 NM_000492.4(CFTR):c.902A>G (p.Tyr301Cys) variant DOID:1485 cystic fibrosis IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Cystic fibrosis PMID:11168024|PMID:11303517|PMID:11354633|PMID:16617247|PMID:19324992|PMID:23276700|PMID:24784896|PMID:25741868|PMID:25963003|PMID:26436105|PMID:26467025|PMID:28040058|PMID:28492532|PMID:31655510|PMID:32357917|PMID:33572515|PMID:33836782|PMID:34850610|PMID:36409994|PMID:36986509|PMID:9915972|PMID:9921909 10053174 CV195898 NM_000492.4(CFTR):c.902A>G (p.Tyr301Cys) variant DOID:9008999 Hereditary Pancreatitis IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Hereditary chronic pancreatitis PMID:11168024|PMID:11303517|PMID:11354633|PMID:16617247|PMID:19324992|PMID:23276700|PMID:24784896|PMID:25741868|PMID:25963003|PMID:26436105|PMID:26467025|PMID:28040058|PMID:28492532|PMID:31655510|PMID:32357917|PMID:33572515|PMID:33836782|PMID:34850610|PMID:36409994|PMID:36986509|PMID:9915972|PMID:9921909 10053174 CV195898 NM_000492.4(CFTR):c.902A>G (p.Tyr301Cys) variant DOID:9563 bronchiectasis IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Cystic Fibrosis-Like Syndrome PMID:11168024|PMID:11303517|PMID:11354633|PMID:16617247|PMID:19324992|PMID:23276700|PMID:24784896|PMID:25741868|PMID:25963003|PMID:26436105|PMID:26467025|PMID:28040058|PMID:28492532|PMID:31655510|PMID:32357917|PMID:33572515|PMID:33836782|PMID:34850610|PMID:36409994|PMID:36986509|PMID:9915972|PMID:9921909 10053176 CV195900 NM_000532.5(PCCB):c.815G>A (p.Arg272Gln) variant DOID:14701 propionic acidemia IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:25741868|PMID:25851414|PMID:28492532|PMID:30274917|PMID:35460704 10053177 CV195901 NM_000532.5(PCCB):c.877G>A (p.Asp293Asn) variant DOID:14701 propionic acidemia IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:25741868|PMID:28492532 10053178 CV195903 NM_000550.3(TYRP1):c.1557T>G (p.Tyr519Ter) variant DOID:0070097 oculocutaneous albinism type III IAGP D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Oculocutaneous albinism type 3 PMID:25741868|PMID:28492532 10053179 CV195904 NM_000550.3(TYRP1):c.1500G>A (p.Leu500=) variant DOID:0070097 oculocutaneous albinism type III IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Oculocutaneous albinism type 3 PMID:25741868|PMID:28492532 10053180 CV195906 NM_000702.4(ATP1A2):c.836G>A (p.Arg279Gln) variant DOID:0060178 familial hemiplegic migraine IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Familial hemiplegic migraine PMID:28492532 10053180 CV195906 NM_000702.4(ATP1A2):c.836G>A (p.Arg279Gln) variant DOID:630 genetic disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10053181 CV195908 NM_000709.4(BCKDHA):c.1080C>T (p.Pro360=) variant DOID:0061203 maple syrup urine disease type IA IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease type 1A PMID:25741868|PMID:28492532 10053181 CV195908 NM_000709.4(BCKDHA):c.1080C>T (p.Pro360=) variant DOID:9269 maple syrup urine disease IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:25741868|PMID:28492532 10053182 CV195909 NM_000751.3(CHRND):c.862C>G (p.Gln288Glu) variant DOID:3635 congenital myasthenic syndrome IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Congenital myasthenic syndrome PMID:25741868|PMID:26467025|PMID:28492532|PMID:8872460 10053182 CV195909 NM_000751.3(CHRND):c.862C>G (p.Gln288Glu) variant DOID:9005962 Multiple Pterygium Syndrome, Lethal Type IAGP D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Lethal multiple pterygium syndrome PMID:25741868|PMID:26467025|PMID:28492532|PMID:8872460 10053183 CV195910 NM_000784.4(CYP27A1):c.1343G>A (p.Arg448His) variant DOID:4810 cerebrotendinous xanthomatosis IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cholestanol storage disease PMID:26467025|PMID:28492532 10053184 CV195911 NM_001127644.2(GABRA1):c.612C>T (p.Arg204=) variant DOID:9009315 Idiopathic Generalized Epilepsy IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Idiopathic generalized epilepsy PMID:28492532 10053187 CV195919 NM_001025389.2(AMPD3):c.1135-5C>A variant DOID:9006043 Erythrocyte Amp Deaminase Deficiency IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Erythrocyte AMP deaminase deficiency 10053188 CV195920 NM_001031710.3(KLHL7):c.975del (p.Lys325fs) variant DOID:0080331 cold-induced sweating syndrome 3 IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: KLHL7-related condition 10053190 CV195922 NM_001368067.1(LDB3):c.787C>T (p.Arg263Cys) variant DOID:0080095 myofibrillar myopathy 4 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 4 PMID:28492532 10053190 CV195922 NM_001368067.1(LDB3):c.787C>T (p.Arg263Cys) variant DOID:0110423 dilated cardiomyopathy 1C IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: LDB3-related condition PMID:28492532 10053191 CV195923 NM_001378615.1(CC2D2A):c.501G>T (p.Lys167Asn) variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:28492532 10053191 CV195923 NM_001378615.1(CC2D2A):c.501G>T (p.Lys167Asn) variant DOID:0050778 Meckel syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Meckel-Gruber syndrome PMID:28492532 10053191 CV195923 NM_001378615.1(CC2D2A):c.501G>T (p.Lys167Asn) variant DOID:0070120 Meckel syndrome 6 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: CC2D2A-related disorder PMID:28492532 10053192 CV195924 NM_001082538.3(TCTN1):c.934G>A (p.Val312Ile) variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:25741868|PMID:28492532 10053192 CV195924 NM_001082538.3(TCTN1):c.934G>A (p.Val312Ile) variant DOID:0110982 Joubert syndrome 13 IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Joubert syndrome 13 PMID:25741868|PMID:28492532 10053193 CV195925 NM_001101426.4(CRPPA):c.1059G>A (p.Lys353=) variant DOID:0050557 congenital muscular dystrophy IAGP D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related PMID:25741868|PMID:26467025|PMID:28492532 10053193 CV195925 NM_001101426.4(CRPPA):c.1059G>A (p.Lys353=) variant DOID:0111234 congenital muscular dystrophy-dystroglycanopathy type A7 IAGP D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 PMID:25741868|PMID:26467025|PMID:28492532 10053194 CV195926 NM_001101426.4(CRPPA):c.1054C>A (p.Gln352Lys) variant DOID:0050557 congenital muscular dystrophy IAGP D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related PMID:25741868|PMID:26467025|PMID:28492532 10053194 CV195926 NM_001101426.4(CRPPA):c.1054C>A (p.Gln352Lys) variant DOID:0111234 congenital muscular dystrophy-dystroglycanopathy type A7 IAGP D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 PMID:25741868|PMID:26467025|PMID:28492532 10053195 CV195927 NM_001130438.3(SPTAN1):c.958C>T (p.Arg320Cys) variant DOID:0080438 developmental and epileptic encephalopathy 5 IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 5 PMID:25741868|PMID:28492532 10053195 CV195927 NM_001130438.3(SPTAN1):c.958C>T (p.Arg320Cys) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:25741868|PMID:28492532 10053197 CV195929 NM_001242957.3(MAK):c.710G>A (p.Arg237His) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10053199 CV195931 NM_001298.3(CNGA3):c.740C>T (p.Thr247Met) variant DOID:0110007 achromatopsia 2 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Rod monochromatism 2 PMID:24903488|PMID:25741868|PMID:28492532 10053199 CV195931 NM_001298.3(CNGA3):c.740C>T (p.Thr247Met) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:24903488|PMID:25741868|PMID:28492532 10053200 CV195932 NM_001360.3(DHCR7):c.906C>T (p.Phe302=) variant DOID:14692 Smith-Lemli-Opitz syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Smith-Lemli-Opitz syndrome PMID:28492532 10053200 CV195932 NM_001360.3(DHCR7):c.906C>T (p.Phe302=) variant DOID:630 genetic disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10053204 CV195937 NM_001854.4(COL11A1):c.1021G>C (p.Glu341Gln) variant DOID:0080672 fibrochondrogenesis 1 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fibrochondrogenesis 1 PMID:25741868|PMID:28492532 10053204 CV195937 NM_001854.4(COL11A1):c.1021G>C (p.Glu341Gln) variant DOID:0080675 Stickler syndrome 2 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Stickler syndrome type 2 PMID:25741868|PMID:28492532 10053205 CV195939 NM_002335.4(LRP5):c.1585-9G>A variant DOID:12347 osteogenesis imperfecta IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:25741868|PMID:26467025|PMID:28492532 10053206 CV195941 NM_003073.5(SMARCB1):c.1033G>T (p.Asp345Tyr) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome 10053207 CV195942 NM_003119.4(SPG7):c.1083G>A (p.Ala361=) variant DOID:0110816 hereditary spastic paraplegia 7 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 7 PMID:25741868|PMID:26467025|PMID:28492532 10053207 CV195942 NM_003119.4(SPG7):c.1083G>A (p.Ala361=) variant DOID:2476 hereditary spastic paraplegia IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:25741868|PMID:26467025|PMID:28492532 10053212 CV195948 NM_004006.3(DMD):c.733A>G (p.Ile245Val) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10053212 CV195948 NM_004006.3(DMD):c.733A>G (p.Ile245Val) variant DOID:11723 Duchenne muscular dystrophy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Duchenne muscular dystrophy PMID:25741868|PMID:28492532 10053212 CV195948 NM_004006.3(DMD):c.733A>G (p.Ile245Val) variant DOID:9883 Becker muscular dystrophy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Muscular dystrophy pseudohypertrophic progressive, Becker type PMID:25741868|PMID:28492532 10053213 CV195950 NM_004260.4(RECQL4):c.1391-4G>T variant DOID:0050654 Baller-Gerold syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Craniosynostosis with radial defects PMID:28492532 10053214 CV195951 NM_004369.4(COL6A3):c.3589G>A (p.Val1197Ile) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:25741868|PMID:28492532 10053215 CV195952 NM_004369.4(COL6A3):c.3138G>T (p.Leu1046=) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:28492532 10053216 CV195953 NM_004369.4(COL6A3):c.3446G>A (p.Arg1149Gln) variant DOID:0050663 Bethlem myopathy IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Myopathy, benign congenital, with contractures PMID:28492532 10053216 CV195953 NM_004369.4(COL6A3):c.3446G>A (p.Arg1149Gln) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:28492532 10053216 CV195953 NM_004369.4(COL6A3):c.3446G>A (p.Arg1149Gln) variant DOID:630 genetic disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10053217 CV195955 NM_004385.5(VCAN):c.4546A>G (p.Lys1516Glu) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10053217 CV195955 NM_004385.5(VCAN):c.4546A>G (p.Lys1516Glu) variant DOID:9005830 Hyaloideoretinal Degeneration of Wagner IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Wagner syndrome PMID:28492532 10053218 CV195956 NM_004385.5(VCAN):c.6767T>C (p.Leu2256Pro) variant DOID:9005830 Hyaloideoretinal Degeneration of Wagner IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Wagner syndrome PMID:25741868|PMID:28492532 10053219 CV195961 NM_004385.5(VCAN):c.6902T>G (p.Phe2301Cys) variant DOID:9005830 Hyaloideoretinal Degeneration of Wagner IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Wagner syndrome PMID:28492532 10053223 CV195967 NM_004415.4(DSP):c.979A>G (p.Asn327Asp) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma 10053224 CV195970 NM_001164508.2(NEB):c.539A>G (p.Lys180Arg) variant DOID:0070336 arthrogryposis multiplex congenita-6 IAGP D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA 6 PMID:25741868|PMID:28492532 10053224 CV195970 NM_001164508.2(NEB):c.539A>G (p.Lys180Arg) variant DOID:0110928 nemaline myopathy 2 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 2 PMID:25741868|PMID:28492532 10053227 CV195974 NM_004813.4(PEX16):c.695-6C>T variant DOID:0050444 infantile Refsum disease IAGP D RGD:8554872 20221004 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:25741868|PMID:28492532 10053227 CV195974 NM_004813.4(PEX16):c.695-6C>T variant DOID:0080483 peroxisome biogenesis disorder 8A IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 8A PMID:25741868|PMID:28492532 10053227 CV195974 NM_004813.4(PEX16):c.695-6C>T variant DOID:0081437 Peroxisome biogenesis disorder 8B IAGP D RGD:8554872 20221004 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 8B PMID:25741868|PMID:28492532 10053227 CV195974 NM_004813.4(PEX16):c.695-6C>T variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10053229 CV195976 NM_005216.5(DDOST):c.815A>G (p.Tyr272Cys) variant DOID:0080569 congenital disorder of glycosylation Ir IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir PMID:28492532 10053230 CV195979 NM_005477.3(HCN4):c.2801G>A (p.Arg934His) variant DOID:0110225 Brugada syndrome 8 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Brugada syndrome 8 PMID:28492532|PMID:28803248 10053231 CV195982 NM_005477.3(HCN4):c.2523G>A (p.Ser841=) variant DOID:0110225 Brugada syndrome 8 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Brugada syndrome 8 PMID:28492532 10053232 CV195983 NM_005477.3(HCN4):c.2553A>G (p.Thr851=) variant DOID:0110225 Brugada syndrome 8 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Brugada syndrome 8 PMID:28492532 10053233 CV195984 NM_005477.3(HCN4):c.3363G>C (p.Arg1121Ser) variant DOID:0110225 Brugada syndrome 8 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Brugada syndrome 8 PMID:28492532 10053234 CV195985 NM_005477.3(HCN4):c.3131G>A (p.Arg1044Gln) variant DOID:0110225 Brugada syndrome 8 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brugada syndrome 8 PMID:28492532|PMID:30578647 10053235 CV195988 NM_005477.3(HCN4):c.2273G>A (p.Arg758His) variant DOID:0110225 Brugada syndrome 8 IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Brugada syndrome 8 PMID:28492532 10053236 CV195989 NM_005477.3(HCN4):c.3197C>A (p.Pro1066His) variant DOID:0110225 Brugada syndrome 8 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Brugada syndrome 8 PMID:28492532|PMID:31731876 10053237 CV195991 NM_005609.4(PYGM):c.924C>T (p.Ile308=) variant DOID:2746 glycogen storage disease V IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type V PMID:25741868|PMID:28492532 10053239 CV195993 NM_005881.4(BCKDK):c.692T>C (p.Ile231Thr) variant DOID:0090126 branched-chain keto acid dehydrogenase kinase deficiency IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency PMID:28492532 10053240 CV195994 NM_006005.3(WFS1):c.2029G>A (p.Ala677Thr) variant DOID:0080584 autosomal dominant Wolfram syndrome IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: HEARING LOSS, PROGRESSIVE, WITH OPTIC ATROPHY AND/OR IMPAIRED GLUCOSE REGULATION PMID:12955714|PMID:17603484|PMID:18060660|PMID:20301750|PMID:20738327|PMID:25741868|PMID:26969326|PMID:28492532|PMID:30311386|PMID:33046911|PMID:33879153|PMID:34426522|PMID:34837038 10053240 CV195994 NM_006005.3(WFS1):c.2029G>A (p.Ala677Thr) variant DOID:0110241 cataract 41 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: CATARACT 41, CONGENITAL NUCLEAR TYPE PMID:12955714|PMID:17603484|PMID:18060660|PMID:20301750|PMID:20738327|PMID:25741868|PMID:26969326|PMID:28492532|PMID:30311386|PMID:33046911|PMID:33879153|PMID:34426522|PMID:34837038 10053240 CV195994 NM_006005.3(WFS1):c.2029G>A (p.Ala677Thr) variant DOID:0110584 autosomal dominant nonsyndromic deafness 6 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 6 PMID:12955714|PMID:17603484|PMID:18060660|PMID:20301750|PMID:20738327|PMID:25741868|PMID:26969326|PMID:28492532|PMID:30311386|PMID:33046911|PMID:33879153|PMID:34426522|PMID:34837038 10053240 CV195994 NM_006005.3(WFS1):c.2029G>A (p.Ala677Thr) variant DOID:0110629 Wolfram syndrome 1 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Wolfram syndrome 1 PMID:12955714|PMID:17603484|PMID:18060660|PMID:20301750|PMID:20738327|PMID:25741868|PMID:26969326|PMID:28492532|PMID:30311386|PMID:33046911|PMID:33879153|PMID:34426522|PMID:34837038 10053240 CV195994 NM_006005.3(WFS1):c.2029G>A (p.Ala677Thr) variant DOID:0111099 maturity-onset diabetes of the young type 1 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:12955714|PMID:17603484|PMID:18060660|PMID:20301750|PMID:20738327|PMID:25741868|PMID:26969326|PMID:28492532|PMID:30311386|PMID:33046911|PMID:33879153|PMID:34426522|PMID:34837038 10053240 CV195994 NM_006005.3(WFS1):c.2029G>A (p.Ala677Thr) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:12955714|PMID:17603484|PMID:18060660|PMID:20301750|PMID:20738327|PMID:25741868|PMID:26969326|PMID:28492532|PMID:30311386|PMID:33046911|PMID:33879153|PMID:34426522|PMID:34837038 10053240 CV195994 NM_006005.3(WFS1):c.2029G>A (p.Ala677Thr) variant DOID:9352 type 2 diabetes mellitus IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Type 2 diabetes mellitus PMID:12955714|PMID:17603484|PMID:18060660|PMID:20301750|PMID:20738327|PMID:25741868|PMID:26969326|PMID:28492532|PMID:30311386|PMID:33046911|PMID:33879153|PMID:34426522|PMID:34837038 10053241 CV195996 NM_006005.3(WFS1):c.2380G>A (p.Glu794Lys) variant DOID:0110629 Wolfram syndrome 1 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Wolfram syndrome 1 PMID:12955714|PMID:17603484|PMID:18060660|PMID:20301750|PMID:20738327|PMID:25741868|PMID:28492532|PMID:33879153 10053242 CV195997 NM_006005.3(WFS1):c.2181C>T (p.Ile727=) variant DOID:0110629 Wolfram syndrome 1 IAGP D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Wolfram syndrome 1 PMID:12955714|PMID:17603484|PMID:18060660|PMID:20301750|PMID:20738327|PMID:28492532|PMID:33879153 10053244 CV195999 NM_006182.4(DDR2):c.720C>T (p.Asp240=) variant DOID:0112196 spondylometaepiphyseal dysplasia, short limb-hand type IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Smed short limb-abnormal calcification type PMID:28492532 10053245 CV196000 NM_006306.4(SMC1A):c.1323C>T (p.Tyr441=) variant DOID:0080506 Cornelia de Lange syndrome 2 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital muscular hypertrophy-cerebral syndrome PMID:25741868|PMID:28492532 10053245 CV196000 NM_006306.4(SMC1A):c.1323C>T (p.Tyr441=) variant DOID:630 genetic disease IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10053246 CV196001 NM_006416.5(SLC35A1):c.890T>G (p.Leu297Arg) variant DOID:0070258 congenital disorder of glycosylation type IIf IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2F PMID:25741868 10053246 CV196001 NM_006416.5(SLC35A1):c.890T>G (p.Leu297Arg) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 10053247 CV196003 NM_006516.4(SLC2A1):c.1016T>C (p.Ile339Thr) variant DOID:0070560 glucose transporter type 1 deficiency syndrome IAGP D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: GLUT1 deficiency syndrome 1, autosomal recessive PMID:21135204|PMID:25741868|PMID:28492532 10053247 CV196003 NM_006516.4(SLC2A1):c.1016T>C (p.Ile339Thr) variant DOID:0070561 glucose transporter type 1 deficiency syndrome 1 IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Encephalopathy due to GLUT1 deficiency PMID:21135204|PMID:25741868|PMID:28492532 10053247 CV196003 NM_006516.4(SLC2A1):c.1016T>C (p.Ile339Thr) variant DOID:0090044 dystonia 9 IAGP D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: CHOREOATHETOSIS, KINESIGENIC, WITH EPISODIC ATAXIA AND SPASTICITY PMID:21135204|PMID:25741868|PMID:28492532 10053247 CV196003 NM_006516.4(SLC2A1):c.1016T>C (p.Ile339Thr) variant DOID:0090045 glucose transporter type 1 deficiency syndrome 2 IAGP D RGD:8554872 20190507 ClinVar ClinVar Annotator: match by term: Dystonia 18 PMID:21135204|PMID:25741868|PMID:28492532 10053247 CV196003 NM_006516.4(SLC2A1):c.1016T>C (p.Ile339Thr) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21135204|PMID:25741868|PMID:28492532 10053247 CV196003 NM_006516.4(SLC2A1):c.1016T>C (p.Ile339Thr) variant DOID:9002035 Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly IAGP D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Stomatin-deficient cryohydrocytosis with neurologic defects PMID:21135204|PMID:25741868|PMID:28492532 10053247 CV196003 NM_006516.4(SLC2A1):c.1016T>C (p.Ile339Thr) variant DOID:9009304 Idiopathic Generalized Epilepsy 12 IAGP D RGD:8554872 20190903 ClinVar ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 12 PMID:21135204|PMID:25741868|PMID:28492532 10053248 CV196004 NM_006516.4(SLC2A1):c.1006C>G (p.Leu336Val) variant DOID:0070560 glucose transporter type 1 deficiency syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Glucose transporter protein syndrome PMID:23306390|PMID:25741868|PMID:28492532 10053248 CV196004 NM_006516.4(SLC2A1):c.1006C>G (p.Leu336Val) variant DOID:0070561 glucose transporter type 1 deficiency syndrome 1 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: GLUT1 deficiency syndrome 1 PMID:23306390|PMID:25741868|PMID:28492532 10053248 CV196004 NM_006516.4(SLC2A1):c.1006C>G (p.Leu336Val) variant DOID:0090044 dystonia 9 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: CHOREOATHETOSIS, KINESIGENIC, WITH EPISODIC ATAXIA AND SPASTICITY PMID:23306390|PMID:25741868|PMID:28492532 10053248 CV196004 NM_006516.4(SLC2A1):c.1006C>G (p.Leu336Val) variant DOID:0090045 glucose transporter type 1 deficiency syndrome 2 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: PAROXYSMAL EXERTION-INDUCED DYSTONIA WITH OR WITHOUT EPILEPSY AND/OR HEMOLYTIC ANEMIA PMID:23306390|PMID:25741868|PMID:28492532 10053248 CV196004 NM_006516.4(SLC2A1):c.1006C>G (p.Leu336Val) variant DOID:9002035 Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: GLUT1 DEFICIENCY SYNDROME WITH PSEUDOHYPERKALEMIA AND HEMOLYSIS PMID:23306390|PMID:25741868|PMID:28492532 10053248 CV196004 NM_006516.4(SLC2A1):c.1006C>G (p.Leu336Val) variant DOID:9009304 Idiopathic Generalized Epilepsy 12 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 12 PMID:23306390|PMID:25741868|PMID:28492532 10053249 CV196005 NM_006642.5(SDCCAG8):c.925G>A (p.Val309Ile) variant DOID:0110138 Bardet-Biedl syndrome 16 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 16 PMID:28492532 10053249 CV196005 NM_006642.5(SDCCAG8):c.925G>A (p.Val309Ile) variant DOID:9004000 Senior-Loken Syndrome 7 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 7 PMID:28492532 10053250 CV196006 NM_006790.3(MYOT):c.1152A>G (p.Arg384=) variant DOID:0080094 myofibrillar myopathy 3 IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 3 PMID:28492532 10053252 CV196009 NM_007254.4(PNKP):c.762C>T (p.His254=) variant DOID:0080459 developmental and epileptic encephalopathy 12 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12 PMID:28492532 10053253 CV196010 NM_001199397.3(NEK1):c.594A>G (p.Thr198=) variant DOID:0110092 short-rib thoracic dysplasia 6 with or without polydactyly IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly PMID:28492532 10053254 CV196012 NM_012469.4(PRPF6):c.891C>T (p.Leu297=) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa PMID:28492532 10053256 CV196014 NM_014141.6(CNTNAP2):c.1165C>T (p.Arg389Trp) variant DOID:0090130 cortical dysplasia-focal epilepsy syndrome IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 1 PMID:25741868|PMID:28492532 10053256 CV196014 NM_014141.6(CNTNAP2):c.1165C>T (p.Arg389Trp) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10053257 CV196016 NM_014391.3(ANKRD1):c.818T>C (p.Met273Thr) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20201015 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy PMID:28492532 10053258 CV196017 NM_014425.5(INVS):c.913G>A (p.Val305Ile) variant DOID:0111113 nephronophthisis 2 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Infantile nephronophthisis PMID:25741868|PMID:28492532 10053258 CV196017 NM_014425.5(INVS):c.913G>A (p.Val305Ile) variant DOID:12712 nephronophthisis IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:25741868|PMID:28492532 10053259 CV196018 NM_014467.3(SRPX2):c.920A>G (p.Gln307Arg) variant DOID:9008407 ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked PMID:28492532 10053260 CV196019 NM_014476.6(PDLIM3):c.1027A>G (p.Thr343Ala) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28492532 10053262 CV196021 NM_014795.4(ZEB2):c.2641A>C (p.Asn881His) variant DOID:0060485 Mowat-Wilson syndrome IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Mowat-Wilson syndrome PMID:25741868|PMID:28492532 10053264 CV196023 NM_014795.4(ZEB2):c.1877G>A (p.Gly626Glu) variant DOID:0060485 Mowat-Wilson syndrome IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Mowat-Wilson syndrome PMID:25741868|PMID:28492532 10053265 CV196028 NM_014874.4(MFN2):c.756C>T (p.Asn252=) variant DOID:0050539 Charcot-Marie-Tooth disease type 2 IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 PMID:25741868|PMID:28492532 10053265 CV196028 NM_014874.4(MFN2):c.756C>T (p.Asn252=) variant DOID:0080068 Charcot-Marie-Tooth disease type 6 IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: PERIPHERAL NEUROPATHY AND OPTIC ATROPHY PMID:25741868|PMID:28492532 10053265 CV196028 NM_014874.4(MFN2):c.756C>T (p.Asn252=) variant DOID:10595 Charcot-Marie-Tooth disease IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:25741868|PMID:28492532 10053265 CV196028 NM_014874.4(MFN2):c.756C>T (p.Asn252=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10053266 CV196029 NM_015102.5(NPHP4):c.945G>A (p.Thr315=) variant DOID:12712 nephronophthisis IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:28492532 10053267 CV196030 NM_001378454.1(ALMS1):c.3092C>G (p.Thr1031Ser) variant DOID:0050473 Alstrom syndrome IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Alstrom syndrome PMID:25741868|PMID:28492532 10053269 CV196033 NM_001378454.1(ALMS1):c.1453A>G (p.Ile485Val) variant DOID:0050473 Alstrom syndrome IAGP D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Alstrom's syndrome PMID:25741868|PMID:25846608|PMID:28492532|PMID:30421101|PMID:33669459|PMID:34148947 10053269 CV196033 NM_001378454.1(ALMS1):c.1453A>G (p.Ile485Val) variant DOID:9351 diabetes mellitus IAGP D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:25741868|PMID:25846608|PMID:28492532|PMID:30421101|PMID:33669459|PMID:34148947 10053270 CV196035 NM_001378454.1(ALMS1):c.4430C>T (p.Ser1477Leu) variant DOID:0050473 Alstrom syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Alstrom's syndrome PMID:25741868|PMID:28492532 10053271 CV196036 NM_001378454.1(ALMS1):c.1838G>A (p.Gly613Asp) variant DOID:0050473 Alstrom syndrome IAGP D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Alstrom's syndrome PMID:24033266|PMID:25741868|PMID:25846608|PMID:28492532|PMID:30421101|PMID:33669459|PMID:34148947 10053271 CV196036 NM_001378454.1(ALMS1):c.1838G>A (p.Gly613Asp) variant DOID:9351 diabetes mellitus IAGP D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:24033266|PMID:25741868|PMID:25846608|PMID:28492532|PMID:30421101|PMID:33669459|PMID:34148947 10053272 CV196037 NM_015311.3(OBSL1):c.2715G>T (p.Lys905Asn) variant DOID:630 genetic disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10053274 CV196040 NM_016239.4(MYO15A):c.4033A>T (p.Ile1345Leu) variant DOID:0110488 autosomal recessive nonsyndromic deafness 3 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: MYO15A-related condition PMID:24033266|PMID:28492532 10053275 CV196042 NM_001134831.2(AHI1):c.1033T>A (p.Leu345Met) variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:25741868|PMID:28492532 10053275 CV196042 NM_001134831.2(AHI1):c.1033T>A (p.Leu345Met) variant DOID:0110998 Joubert syndrome 3 IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Joubert syndrome 3 PMID:25741868|PMID:28492532 10053275 CV196042 NM_001134831.2(AHI1):c.1033T>A (p.Leu345Met) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10053275 CV196042 NM_001134831.2(AHI1):c.1033T>A (p.Leu345Met) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532 10053276 CV196044 NM_001123385.2(BCOR):c.3711G>A (p.Val1237=) variant DOID:0111809 syndromic microphthalmia 2 IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Oculofaciocardiodental syndrome PMID:25741868|PMID:28492532 10053277 CV196045 NM_017777.4(MKS1):c.842G>C (p.Arg281Pro) variant DOID:0070115 Meckel syndrome 1 IAGP D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Meckel syndrome type 1 10053278 CV196046 NM_152564.5(VPS13B):c.983A>G (p.His328Arg) variant DOID:0111590 Cohen syndrome IAGP D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:25741868|PMID:26467025|PMID:28492532 10053278 CV196046 NM_152564.5(VPS13B):c.983A>G (p.His328Arg) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 10053278 CV196046 NM_152564.5(VPS13B):c.983A>G (p.His328Arg) variant DOID:9001162 Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness PMID:25741868|PMID:26467025|PMID:28492532 10053279 CV196047 NM_152564.5(VPS13B):c.1041A>G (p.Ser347=) variant DOID:0111590 Cohen syndrome IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 10053279 CV196047 NM_152564.5(VPS13B):c.1041A>G (p.Ser347=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10053280 CV196048 NM_018100.4(EFHC1):c.1306C>T (p.Arg436Cys) variant DOID:0070309 absence epilepsy IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Absence epilepsy PMID:28370826|PMID:28492532 10053281 CV196051 NM_001378120.1(MBD5):c.236G>A (p.Gly79Glu) variant DOID:0070031 autosomal dominant intellectual developmental disorder 1 IAGP D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Mental retardation, autosomal dominant 1 PMID:21981781|PMID:23055267|PMID:25741868|PMID:26467025|PMID:27222293|PMID:28492532 10053281 CV196051 NM_001378120.1(MBD5):c.236G>A (p.Gly79Glu) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21981781|PMID:23055267|PMID:25741868|PMID:26467025|PMID:27222293|PMID:28492532 10053283 CV196053 NM_020549.5(CHAT):c.1248C>T (p.Asn416=) variant DOID:0110671 congenital myasthenic syndrome 6 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Familial infantile myasthenia PMID:28492532 10053284 CV196054 NM_020631.6(PLEKHG5):c.719A>G (p.Asp240Gly) variant DOID:0111213 autosomal recessive distal hereditary motor neuronopathy 4 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 4 PMID:25741868|PMID:28492532 10053284 CV196054 NM_020631.6(PLEKHG5):c.719A>G (p.Asp240Gly) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10053285 CV196057 NM_020822.3(KCNT1):c.675+4G>C variant DOID:0080439 developmental and epileptic encephalopathy 14 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 PMID:17576681|PMID:28492532|PMID:9536098 10053286 CV196059 NM_001366722.1(GRIP1):c.817T>C (p.Cys273Arg) variant DOID:0111406 Fraser syndrome 3 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Fraser syndrome 3 PMID:25741868|PMID:28492532 10053286 CV196059 NM_001366722.1(GRIP1):c.817T>C (p.Cys273Arg) variant DOID:630 genetic disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10053287 CV196060 NM_021939.4(FKBP10):c.1307T>C (p.Ile436Thr) variant DOID:0110351 osteogenesis imperfecta type 11 IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta type 11 PMID:25741868|PMID:28492532 10053287 CV196060 NM_021939.4(FKBP10):c.1307T>C (p.Ile436Thr) variant DOID:12347 osteogenesis imperfecta IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Osteogenesis imperfecta PMID:25741868|PMID:28492532 10053288 CV196061 NM_022437.3(ABCG8):c.1201A>T (p.Thr401Ser) variant DOID:0070634 sitosterolemia 1 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Sitosterolemia 1 PMID:20854103|PMID:23685560|PMID:25741868|PMID:28492532|PMID:32702746|PMID:36973604 10053288 CV196061 NM_022437.3(ABCG8):c.1201A>T (p.Thr401Ser) variant DOID:0090019 sitosterolemia IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Sitosterolemia PMID:20854103|PMID:23685560|PMID:25741868|PMID:28492532|PMID:32702746|PMID:36973604 10053288 CV196061 NM_022437.3(ABCG8):c.1201A>T (p.Thr401Ser) variant DOID:9005000 Gallbladder Disease 4 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Gallbladder disease 4 PMID:20854103|PMID:23685560|PMID:25741868|PMID:28492532|PMID:32702746|PMID:36973604 10053289 CV196064 NM_022464.5(SIL1):c.849C>T (p.Leu283=) variant DOID:0080195 Marinesco-Sjogren syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Marinesco-Sjögren syndrome PMID:26467025|PMID:28492532 10053290 CV196065 NM_024079.5(ALG8):c.856T>G (p.Trp286Gly) variant DOID:0080560 congenital disorder of glycosylation Ih IAGP D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1H PMID:23806237|PMID:28492532|PMID:28940310 10053292 CV196067 NM_024596.5(MCPH1):c.974C>T (p.Thr325Met) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10053293 CV196068 NM_024596.5(MCPH1):c.1369G>A (p.Glu457Lys) variant DOID:0070285 primary autosomal recessive microcephaly 1 IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Microcephaly 1, primary, autosomal recessive PMID:25741868|PMID:28492532 10053294 CV196070 NM_001191061.2(SLC25A22):c.725C>T (p.Ala242Val) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 10053294 CV196070 NM_001191061.2(SLC25A22):c.725C>T (p.Ala242Val) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10053295 CV196071 NM_024753.5(TTC21B):c.796-3T>C variant DOID:0050592 asphyxiating thoracic dystrophy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:17576681|PMID:28492532|PMID:9536098 10053300 CV196078 NM_153026.3(PRICKLE1):c.2216C>T (p.Ser739Phe) variant DOID:0111448 progressive myoclonus epilepsy 1B IAGP D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Progressive myoclonus epilepsy with ataxia PMID:21901791|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29358611 10053300 CV196078 NM_153026.3(PRICKLE1):c.2216C>T (p.Ser739Phe) variant DOID:1059 intellectual disability IAGP D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:21901791|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29358611 10053300 CV196078 NM_153026.3(PRICKLE1):c.2216C>T (p.Ser739Phe) variant DOID:3329 benign epilepsy with centrotemporal spikes IAGP D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy PMID:21901791|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29358611 10053300 CV196078 NM_153026.3(PRICKLE1):c.2216C>T (p.Ser739Phe) variant DOID:891 progressive myoclonus epilepsy IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: PME PMID:21901791|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29358611 10053302 CV196080 NM_153026.3(PRICKLE1):c.2105G>A (p.Arg702Gln) variant DOID:0111448 progressive myoclonus epilepsy 1B IAGP D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Progressive myoclonus epilepsy with ataxia PMID:28492532 10053303 CV196082 NM_172107.4(KCNQ2):c.1088A>G (p.Tyr363Cys) variant DOID:9000419 Benign Familial Neonatal Seizures, 1 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Seizures, benign familial neonatal, 1 PMID:25741868 10053304 CV196085 NM_001291867.2(NHS):c.4860G>C (p.Arg1620=) variant DOID:0060599 Nance-Horan syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Nance-Horan syndrome PMID:28492532 10053305 CV196086 NM_001291867.2(NHS):c.4783A>C (p.Thr1595Pro) variant DOID:0110272 cataract 40 IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Cataract 40 PMID:25741868 10053306 CV196087 NM_000542.5(SFTPB):c.826C>T (p.Arg276Trp) variant DOID:9001026 Pulmonary Surfactant Metabolism Dysfunction 1 IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 1 PMID:28492532 10053306 CV196087 NM_000542.5(SFTPB):c.826C>T (p.Arg276Trp) variant DOID:9002379 Congenital Deficiency of Pulmonary Surfactant Protein B IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Pulmonary surfactant protein B, deficiency of PMID:28492532 10053306 CV196087 NM_000542.5(SFTPB):c.826C>T (p.Arg276Trp) variant DOID:9003953 Surfactant Dysfunction IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Pulmonary surfactant metabolism dysfunction PMID:28492532 10053308 CV196089 NM_198859.4(PRICKLE2):c.1962G>A (p.Leu654=) variant DOID:9008631 progressive myoclonus epilepsy 5 IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 5 PMID:28492532 10053309 CV196090 NM_198859.4(PRICKLE2):c.2219C>T (p.Ser740Phe) variant DOID:9008631 progressive myoclonus epilepsy 5 IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 5 PMID:26467025|PMID:28492532 10053310 CV196091 NM_198859.4(PRICKLE2):c.2191A>G (p.Ser731Gly) variant DOID:9008631 progressive myoclonus epilepsy 5 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 5 PMID:28492532 10053312 CV196093 NM_206933.4(USH2A):c.1510C>A (p.His504Asn) variant DOID:0110360 retinitis pigmentosa 39 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 39 PMID:25741868 10053312 CV196093 NM_206933.4(USH2A):c.1510C>A (p.His504Asn) variant DOID:0110838 Usher syndrome type 2A IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Usher syndrome type 2A PMID:25741868 10053312 CV196093 NM_206933.4(USH2A):c.1510C>A (p.His504Asn) variant DOID:630 genetic disease IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 10053315 CV196096 NM_207346.3(TSEN54):c.984T>C (p.Ala328=) variant DOID:0060264 pontocerebellar hypoplasia IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia PMID:28492532 10053315 CV196096 NM_207346.3(TSEN54):c.984T>C (p.Ala328=) variant DOID:0060266 pontocerebellar hypoplasia type 1B IAGP D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia PMID:28492532 10053316 CV196097 NM_207346.3(TSEN54):c.914A>G (p.Asn305Ser) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10053317 CV196098 NM_207346.3(TSEN54):c.1120C>G (p.Arg374Gly) variant DOID:0060264 pontocerebellar hypoplasia IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Pontocerebellar hypoplasia PMID:25741868|PMID:28492532 10053317 CV196098 NM_207346.3(TSEN54):c.1120C>G (p.Arg374Gly) variant DOID:0060266 pontocerebellar hypoplasia type 1B IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia PMID:25741868|PMID:28492532 10053318 CV196099 NM_207361.6(FREM2):c.6272C>T (p.Ala2091Val) variant DOID:0111717 isolated cryptophthalmia IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Isolated cryptophthalmia PMID:25741868 10053318 CV196099 NM_207361.6(FREM2):c.6272C>T (p.Ala2091Val) variant DOID:630 genetic disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 10053320 CV196102 NM_182961.4(SYNE1):c.15568C>G (p.Gln5190Glu) variant DOID:0070249 autosomal dominant Emery-Dreifuss muscular dystrophy 4 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES PMID:25741868|PMID:26467025|PMID:28492532 10053320 CV196102 NM_182961.4(SYNE1):c.15568C>G (p.Gln5190Glu) variant DOID:0111618 autosomal recessive spinocerebellar ataxia 8 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type PMID:25741868|PMID:26467025|PMID:28492532 10053323 CV196105 NM_001267550.2(TTN):c.24019C>T (p.Arg8007Ter) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23975875|PMID:25589632|PMID:25741868|PMID:27532257|PMID:27869827|PMID:28492532|PMID:32964742 10053324 CV196107 NM_182961.4(SYNE1):c.15863G>C (p.Gly5288Ala) variant DOID:0070249 autosomal dominant Emery-Dreifuss muscular dystrophy 4 IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant PMID:25741868|PMID:26467025|PMID:28492532 10053324 CV196107 NM_182961.4(SYNE1):c.15863G>C (p.Gly5288Ala) variant DOID:0111618 autosomal recessive spinocerebellar ataxia 8 IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type PMID:25741868|PMID:26467025|PMID:28492532 10053325 CV196108 NM_001377.3(DYNC2H1):c.11925C>T (p.Cys3975=) variant DOID:0050592 asphyxiating thoracic dystrophy IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:28492532 10053326 CV196109 NM_032119.4(ADGRV1):c.17669T>A (p.Met5890Lys) variant DOID:630 genetic disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10053330 CV196114 NM_001377.3(DYNC2H1):c.12006C>T (p.Ile4002=) variant DOID:0050592 asphyxiating thoracic dystrophy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:28492532 10053331 CV196115 NM_182914.3(SYNE2):c.15445C>T (p.Arg5149Cys) variant DOID:0070250 autosomal dominant Emery-Dreifuss muscular dystrophy 5 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: SYNE2-related condition PMID:28492532 10053332 CV196116 NM_001377.3(DYNC2H1):c.12082G>T (p.Gly4028Cys) variant DOID:0050592 asphyxiating thoracic dystrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Short rib-polydactyly syndrome PMID:25741868|PMID:28492532 10053332 CV196116 NM_001377.3(DYNC2H1):c.12082G>T (p.Gly4028Cys) variant DOID:0110087 asphyxiating thoracic dystrophy 3 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 PMID:25741868|PMID:28492532 10053332 CV196116 NM_001377.3(DYNC2H1):c.12082G>T (p.Gly4028Cys) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532 10053333 CV196118 NM_005529.7(HSPG2):c.11475C>T (p.Ile3825=) variant DOID:0090005 Schwartz-Jampel syndrome 1 IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Schwartz-Jampel syndrome PMID:25741868|PMID:26467025|PMID:28492532 10053333 CV196118 NM_005529.7(HSPG2):c.11475C>T (p.Ile3825=) variant DOID:65 connective tissue disease IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:26467025|PMID:28492532 10053333 CV196118 NM_005529.7(HSPG2):c.11475C>T (p.Ile3825=) variant DOID:9005084 Kniest Like Dysplasia Lethal IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Lethal Kniest-like syndrome PMID:25741868|PMID:26467025|PMID:28492532 10053334 CV196120 NM_001267550.2(TTN):c.25480C>T (p.Arg8494Ter) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23975875|PMID:25589632|PMID:25741868|PMID:27869827|PMID:28492532|PMID:32964742 10053335 CV196121 NM_000540.3(RYR1):c.11811G>A (p.Ser3937=) variant DOID:0080102 congenital myopathy 4A IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion PMID:25741868|PMID:28492532 10053335 CV196121 NM_000540.3(RYR1):c.11811G>A (p.Ser3937=) variant DOID:0080990 King Denborough syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: King syndrome PMID:25741868|PMID:28492532 10053335 CV196121 NM_000540.3(RYR1):c.11811G>A (p.Ser3937=) variant DOID:0080991 congenital myopathy 1B IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Multiminicore disease with external ophthalmoplegia PMID:25741868|PMID:28492532 10053335 CV196121 NM_000540.3(RYR1):c.11811G>A (p.Ser3937=) variant DOID:3529 congenital myopathy 1A IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Shy-Magee syndrome PMID:25741868|PMID:28492532 10053335 CV196121 NM_000540.3(RYR1):c.11811G>A (p.Ser3937=) variant DOID:422 congenital structural myopathy IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy PMID:25741868|PMID:28492532 10053335 CV196121 NM_000540.3(RYR1):c.11811G>A (p.Ser3937=) variant DOID:8545 malignant hyperthermia IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Malignant hyperpyrexia PMID:25741868|PMID:28492532 10053335 CV196121 NM_000540.3(RYR1):c.11811G>A (p.Ser3937=) variant DOID:9005320 Malignant Fever IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pharmacogenic myopathy PMID:25741868|PMID:28492532 10053336 CV196122 NM_001377.3(DYNC2H1):c.12410C>G (p.Pro4137Arg) variant DOID:0050592 asphyxiating thoracic dystrophy IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:25741868|PMID:28492532|PMID:29068549|PMID:30655312|PMID:30773290 10053336 CV196122 NM_001377.3(DYNC2H1):c.12410C>G (p.Pro4137Arg) variant DOID:0110087 asphyxiating thoracic dystrophy 3 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3 PMID:25741868|PMID:28492532|PMID:29068549|PMID:30655312|PMID:30773290 10053337 CV196124 NM_182914.3(SYNE2):c.15928T>C (p.Leu5310=) variant DOID:0070250 autosomal dominant Emery-Dreifuss muscular dystrophy 5 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 5, autosomal dominant PMID:28492532 10053338 CV196125 NM_182914.3(SYNE2):c.15857A>G (p.Tyr5286Cys) variant DOID:0070250 autosomal dominant Emery-Dreifuss muscular dystrophy 5 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 5, autosomal dominant PMID:25741868|PMID:26467025|PMID:28492532 10053339 CV196126 NM_001164508.2(NEB):c.18140A>G (p.Tyr6047Cys) variant DOID:0110928 nemaline myopathy 2 IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 2 PMID:28492532 10053340 CV196129 NM_182961.4(SYNE1):c.16850G>A (p.Arg5617Gln) variant DOID:0111618 autosomal recessive spinocerebellar ataxia 8 IAGP D RGD:8554872 20211109 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 PMID:25741868|PMID:26467025|PMID:28492532 10053341 CV196130 NM_001267550.2(TTN):c.25942A>G (p.Lys8648Glu) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early-onset myopathy with fatal cardiomyopathy PMID:24033266|PMID:25741868 10053341 CV196130 NM_001267550.2(TTN):c.25942A>G (p.Lys8648Glu) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10 PMID:24033266|PMID:25741868 10053341 CV196130 NM_001267550.2(TTN):c.25942A>G (p.Lys8648Glu) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:24033266|PMID:25741868 10053341 CV196130 NM_001267550.2(TTN):c.25942A>G (p.Lys8648Glu) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:24033266|PMID:25741868 10053341 CV196130 NM_001267550.2(TTN):c.25942A>G (p.Lys8648Glu) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:24033266|PMID:25741868 10053344 CV196135 NM_182914.3(SYNE2):c.16195G>A (p.Ala5399Thr) variant DOID:0070250 autosomal dominant Emery-Dreifuss muscular dystrophy 5 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 5, autosomal dominant PMID:28492532 10053347 CV196138 NM_182914.3(SYNE2):c.16405C>A (p.Pro5469Thr) variant DOID:0070250 autosomal dominant Emery-Dreifuss muscular dystrophy 5 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: SYNE2-related condition PMID:28492532 10053348 CV196139 NM_000016.6(ACADM):c.709-13A>G variant DOID:0080153 medium chain acyl-CoA dehydrogenase deficiency IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Medium-chain acyl-coenzyme A dehydrogenase deficiency PMID:20434380|PMID:21083904|PMID:25741868|PMID:28492532 10053349 CV196140 NM_000018.4(ACADVL):c.866G>A (p.Gly289Glu) variant DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:25741868|PMID:27209629|PMID:27246109|PMID:28492532 10053350 CV196141 NM_000026.4(ADSL):c.895A>G (p.Met299Val) variant DOID:0050762 adenylosuccinase lyase deficiency IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency PMID:25741868|PMID:26467025|PMID:28492532 10053351 CV196142 NM_000030.3(AGXT):c.866G>A (p.Arg289His) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:19479957|PMID:25629080|PMID:25741868|PMID:28492532|PMID:28906061|PMID:34082749|PMID:35592619|PMID:37874369 10053355 CV196147 NM_000052.7(ATP7A):c.2070A>G (p.Glu690=) variant DOID:0111196 X-linked distal spinal muscular atrophy 3 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED RECESSIVE PMID:18414213|PMID:28492532 10053355 CV196147 NM_000052.7(ATP7A):c.2070A>G (p.Glu690=) variant DOID:0111272 occipital horn syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Occipital horn syndrome PMID:18414213|PMID:28492532 10053355 CV196147 NM_000052.7(ATP7A):c.2070A>G (p.Glu690=) variant DOID:1838 Menkes disease IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Menkes kinky-hair syndrome PMID:18414213|PMID:28492532 10053356 CV196149 NM_000082.4(ERCC8):c.839C>A (p.Thr280Lys) variant DOID:0080907 Cockayne syndrome A IAGP D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Cockayne syndrome type A PMID:25741868|PMID:28492532 10053356 CV196149 NM_000082.4(ERCC8):c.839C>A (p.Thr280Lys) variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome PMID:25741868|PMID:28492532 10053358 CV196151 NM_000093.5(COL5A1):c.1383C>T (p.Ile461=) variant DOID:0080727 Ehlers-Danlos syndrome arthrochalasia type 1 IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome type 7A PMID:25741868|PMID:28492532 10053358 CV196151 NM_000093.5(COL5A1):c.1383C>T (p.Ile461=) variant DOID:13359 Ehlers-Danlos syndrome IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:25741868|PMID:28492532 10053358 CV196151 NM_000093.5(COL5A1):c.1383C>T (p.Ile461=) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10053358 CV196151 NM_000093.5(COL5A1):c.1383C>T (p.Ile461=) variant DOID:14720 Ehlers-Danlos syndrome classic type 1 IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 PMID:25741868|PMID:28492532 10053358 CV196151 NM_000093.5(COL5A1):c.1383C>T (p.Ile461=) variant DOID:9003323 Multifocal Fibromuscular Dysplasia IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: COL5A1-related condition PMID:25741868|PMID:28492532 10053359 CV196152 NM_000096.4(CP):c.1632A>T (p.Glu544Asp) variant DOID:0050711 aceruloplasminemia IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Deficiency of ferroxidase PMID:25741868|PMID:28492532 10053361 CV196156 NM_000202.8(IDS):c.1227G>A (p.Thr409=) variant DOID:0111395 mucopolysaccharidosis type IIIA IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-A PMID:25741868|PMID:28492532 10053361 CV196156 NM_000202.8(IDS):c.1227G>A (p.Thr409=) variant DOID:12799 mucopolysaccharidosis II IAGP D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-II PMID:25741868|PMID:28492532 10053362 CV196157 NM_000203.5(IDUA):c.1190-17_1190-16insA variant DOID:12802 mucopolysaccharidosis I IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis type 1 PMID:28492532 10053363 CV196160 NM_000254.3(MTR):c.858C>T (p.Pro286=) variant DOID:0050733 methylmalonic aciduria and homocystinuria type cblG IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Methylcobalamin deficiency type cblG PMID:25741868|PMID:28492532 10053363 CV196160 NM_000254.3(MTR):c.858C>T (p.Pro286=) variant DOID:0112256 homocystinuria-megaloblastic anemia cblG type IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Methylcobalamin deficiency type cblG PMID:25741868|PMID:28492532 10053363 CV196160 NM_000254.3(MTR):c.858C>T (p.Pro286=) variant DOID:655 inherited metabolic disorder IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Disorders of Intracellular Cobalamin Metabolism PMID:25741868|PMID:28492532 10053366 CV196166 NM_000287.4(PEX6):c.1958C>T (p.Ser653Leu) variant DOID:0050444 infantile Refsum disease IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL PMID:25741868|PMID:28492532 10053366 CV196166 NM_000287.4(PEX6):c.1958C>T (p.Ser653Leu) variant DOID:0080479 peroxisome biogenesis disorder 4A IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 4A (Zellweger) PMID:25741868|PMID:28492532 10053366 CV196166 NM_000287.4(PEX6):c.1958C>T (p.Ser653Leu) variant DOID:0080624 Heimler syndrome 2 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 4C PMID:25741868|PMID:28492532 10053366 CV196166 NM_000287.4(PEX6):c.1958C>T (p.Ser653Leu) variant DOID:0080786 Brown-Vialetto-Van Laere syndrome 2 IAGP D RGD:8554872 20250909 ClinVar ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 3 PMID:25741868|PMID:28492532 10053366 CV196166 NM_000287.4(PEX6):c.1958C>T (p.Ser653Leu) variant DOID:0081433 Peroxisome biogenesis disorder 4B IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 4B PMID:25741868|PMID:28492532 10053366 CV196166 NM_000287.4(PEX6):c.1958C>T (p.Ser653Leu) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10053367 CV196167 NM_000288.4(PEX7):c.886C>T (p.Leu296Phe) variant DOID:0081438 Peroxisome biogenesis disorder 9B IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 9B PMID:28492532 10053369 CV196169 NM_000310.4(PPT1):c.904A>G (p.Ile302Val) variant DOID:0110721 neuronal ceroid lipofuscinosis 1 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Ceroid lipofuscinosis neuronal 1 PMID:25741868|PMID:28492532 10053369 CV196169 NM_000310.4(PPT1):c.904A>G (p.Ile302Val) variant DOID:1059 intellectual disability IAGP D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 10053369 CV196169 NM_000310.4(PPT1):c.904A>G (p.Ile302Val) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10053371 CV196172 NM_000340.2(SLC2A2):c.1087G>T (p.Ala363Ser) variant DOID:0070562 Fanconi-Bickel syndrome IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Fanconi-Bickel syndrome PMID:28492532 10053371 CV196172 NM_000340.2(SLC2A2):c.1087G>T (p.Ala363Ser) variant DOID:1062 Fanconi syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Pseudo-Phlorizin diabetes PMID:28492532 10053373 CV196174 NM_000381.4(MID1):c.1561C>T (p.Arg521Cys) variant DOID:0080697 Opitz GBBB syndrome IAGP D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: MID1-related condition PMID:28492532 10053373 CV196174 NM_000381.4(MID1):c.1561C>T (p.Arg521Cys) variant DOID:630 genetic disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10053374 CV196175 NM_001008216.2(GALE):c.755T>C (p.Ile252Thr) variant DOID:0111458 galactose epimerase deficiency IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: UDPglucose-4-epimerase deficiency PMID:23644136|PMID:28492532 10053375 CV196179 NM_001278116.2(L1CAM):c.1002C>T (p.Tyr334=) variant DOID:607 paraplegia IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:25741868|PMID:26467025|PMID:28492532 10053375 CV196179 NM_001278116.2(L1CAM):c.1002C>T (p.Tyr334=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 10053376 CV196180 NM_000430.4(PAFAH1B1):c.958A>G (p.Ile320Val) variant DOID:0050453 lissencephaly IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Isolated Lissencephaly Sequence PMID:25741868|PMID:28492532 10053376 CV196180 NM_000430.4(PAFAH1B1):c.958A>G (p.Ile320Val) variant DOID:630 genetic disease IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10053377 CV196182 NM_000440.3(PDE6A):c.1214A>G (p.Asn405Ser) variant DOID:0110379 retinitis pigmentosa 43 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 43 PMID:25741868|PMID:28492532 10053377 CV196182 NM_000440.3(PDE6A):c.1214A>G (p.Asn405Ser) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:28492532 10053378 CV196183 NM_000441.2(SLC26A4):c.1040C>T (p.Ser347Leu) variant DOID:0060744 Pendred syndrome IAGP D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Pendred syndrome PMID:24033266|PMID:25741868|PMID:28492532 10053378 CV196183 NM_000441.2(SLC26A4):c.1040C>T (p.Ser347Leu) variant DOID:0110498 autosomal recessive nonsyndromic deafness 4 IAGP D RGD:8554872 20211221 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct PMID:24033266|PMID:25741868|PMID:28492532 10053378 CV196183 NM_000441.2(SLC26A4):c.1040C>T (p.Ser347Leu) variant DOID:630 genetic disease IAGP D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 10053379 CV196184 NM_201384.3(PLEC):c.793G>A (p.Val265Met) variant DOID:0090017 epidermolysis bullosa simplex with muscular dystrophy IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with muscular dystrophy PMID:28492532 10053380 CV196185 NM_000489.6(ATRX):c.1868A>G (p.Lys623Arg) variant DOID:0110030 alpha thalassemia-X-linked intellectual disability syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Alpha thalassemia-X-linked intellectual disability syndrome PMID:25741868|PMID:28492532 10053380 CV196185 NM_000489.6(ATRX):c.1868A>G (p.Lys623Arg) variant DOID:630 genetic disease IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10053381 CV196186 NM_000489.6(ATRX):c.2782G>C (p.Glu928Gln) variant DOID:0110030 alpha thalassemia-X-linked intellectual disability syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Alpha thalassemia-X-linked intellectual disability syndrome PMID:25741868|PMID:28492532 10053381 CV196186 NM_000489.6(ATRX):c.2782G>C (p.Glu928Gln) variant DOID:0112125 alpha-thalassemia myelodysplasia syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Acquired hemoglobin H disease PMID:25741868|PMID:28492532 10053381 CV196186 NM_000489.6(ATRX):c.2782G>C (p.Glu928Gln) variant DOID:630 genetic disease IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10053383 CV196188 NM_000489.6(ATRX):c.1273A>C (p.Lys425Gln) variant DOID:0110030 alpha thalassemia-X-linked intellectual disability syndrome IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Alpha thalassemia-X-linked intellectual disability syndrome PMID:25741868|PMID:28492532 10053384 CV196189 NM_000489.6(ATRX):c.3091G>A (p.Gly1031Ser) variant DOID:0110030 alpha thalassemia-X-linked intellectual disability syndrome IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: ATR-X syndrome PMID:25741868|PMID:28492532 10053384 CV196189 NM_000489.6(ATRX):c.3091G>A (p.Gly1031Ser) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10053385 CV196190 NM_000489.6(ATRX):c.3065G>A (p.Arg1022Gln) variant DOID:0110030 alpha thalassemia-X-linked intellectual disability syndrome IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Alpha thalassemia-X-linked intellectual disability syndrome PMID:28492532 10053385 CV196190 NM_000489.6(ATRX):c.3065G>A (p.Arg1022Gln) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10053386 CV196192 NM_000531.6(OTC):c.870T>C (p.Thr290=) variant DOID:9271 ornithine carbamoyltransferase deficiency IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency PMID:28492532 10053388 CV196195 NM_000709.4(BCKDHA):c.1277C>T (p.Ser426Phe) variant DOID:9269 maple syrup urine disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:25741868|PMID:28492532 10053389 CV196196 NM_000719.7(CACNA1C):c.1385G>A (p.Arg462Gln) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10053389 CV196196 NM_000719.7(CACNA1C):c.1385G>A (p.Arg462Gln) variant DOID:630 genetic disease IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10053390 CV196198 NM_000751.3(CHRND):c.933-9T>C variant DOID:9005962 Multiple Pterygium Syndrome, Lethal Type IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Lethal multiple pterygium syndrome PMID:28492532 10053393 CV196203 NM_000875.5(IGF1R):c.1963G>A (p.Gly655Ser) variant DOID:9000145 IGF1R-RELATED DISORDER IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: IGF1R-related condition PMID:25741868|PMID:28492532 10053396 CV196206 NM_001023570.4(IQCB1):c.814C>G (p.Gln272Glu) variant DOID:12712 nephronophthisis IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:25741868|PMID:28492532 10053396 CV196206 NM_001023570.4(IQCB1):c.814C>G (p.Gln272Glu) variant DOID:9004221 Senior-Loken Syndrome 5 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 5 PMID:25741868|PMID:28492532 10053397 CV196207 NM_001023570.4(IQCB1):c.826C>G (p.Gln276Glu) variant DOID:9004221 Senior-Loken Syndrome 5 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Senior-Loken syndrome 5 PMID:25741868 10053398 CV196209 NM_001360016.2(G6PD):c.865-16C>T variant DOID:13628 favism IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency PMID:28492532 10053401 CV196214 NM_001378615.1(CC2D2A):c.603C>T (p.Pro201=) variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:25741868|PMID:28492532 10053401 CV196214 NM_001378615.1(CC2D2A):c.603C>T (p.Pro201=) variant DOID:0070120 Meckel syndrome 6 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Meckel syndrome, type 6 PMID:25741868|PMID:28492532 10053402 CV196215 NM_001083961.2(WDR62):c.1233+15dup variant DOID:0070293 primary autosomal recessive microcephaly 2 with or without cortical malformations IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Primary Microcephaly 2 With or Without Cortical Malformations PMID:28492532 10053405 CV196218 NM_001134363.3(RBM20):c.2514T>C (p.Ala838=) variant DOID:0110447 dilated cardiomyopathy 1DD IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1DD PMID:28492532 10053407 CV196222 NM_001165963.4(SCN1A):c.1194G>A (p.Thr398=) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 10053408 CV196223 NM_001242957.3(MAK):c.975G>A (p.Pro325=) variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive PMID:28492532 10053409 CV196225 NM_001360.3(DHCR7):c.1362G>A (p.Lys454=) variant DOID:14692 Smith-Lemli-Opitz syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Smith-Lemli-Opitz syndrome PMID:28492532 10053409 CV196225 NM_001360.3(DHCR7):c.1362G>A (p.Lys454=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10053410 CV196226 NM_001360.3(DHCR7):c.1270G>A (p.Gly424Ser) variant DOID:14692 Smith-Lemli-Opitz syndrome IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Smith-Lemli-Opitz syndrome PMID:28492532 10053411 CV196227 NM_001458.5(FLNC):c.1502C>T (p.Thr501Ile) variant DOID:0080096 myofibrillar myopathy 5 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy, filamin C-related PMID:28492532 10053411 CV196227 NM_001458.5(FLNC):c.1502C>T (p.Thr501Ile) variant DOID:0110327 hypertrophic cardiomyopathy 26 IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 26 PMID:28492532 10053411 CV196227 NM_001458.5(FLNC):c.1502C>T (p.Thr501Ile) variant DOID:0111190 distal myopathy 4 IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Distal myopathy with posterior leg and anterior hand involvement PMID:28492532 10053411 CV196227 NM_001458.5(FLNC):c.1502C>T (p.Thr501Ile) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant PMID:28492532 10053413 CV196229 NM_001849.4(COL6A2):c.933A>T (p.Glu311Asp) variant DOID:0050663 Bethlem myopathy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, benign congenital PMID:25741868|PMID:28492532 10053413 CV196229 NM_001849.4(COL6A2):c.933A>T (p.Glu311Asp) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:25741868|PMID:28492532 10053413 CV196229 NM_001849.4(COL6A2):c.933A>T (p.Glu311Asp) variant DOID:630 genetic disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10053414 CV196230 NM_001851.6(COL9A1):c.904G>A (p.Gly302Ser) variant DOID:0070301 multiple epiphyseal dysplasia 6 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: COL9A1-related condition PMID:25741868|PMID:28492532|PMID:30467950 10053415 CV196232 NM_001927.4(DES):c.1372-8C>T variant DOID:0080092 myofibrillar myopathy 1 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:25741868|PMID:28492532 10053416 CV196233 NM_002109.6(HARS1):c.911_922del (p.Leu304_Glu307del) variant DOID:0110842 Usher syndrome type 3B IAGP D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Usher syndrome, type 3B PMID:28492532 10053417 CV196234 NM_002206.3(ITGA7):c.1317C>T (p.Phe439=) variant DOID:0110639 congenital muscular dystrophy due to integrin alpha-7 deficiency IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy due to integrin alpha-7 deficiency PMID:25741868|PMID:28492532 10053418 CV196238 NM_002474.3(MYH11):c.1017C>T (p.Ser339=) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection PMID:25741868|PMID:28492532 10053418 CV196238 NM_002474.3(MYH11):c.1017C>T (p.Ser339=) variant DOID:9000664 Familial Thoracic Aortic Aneurysm 4 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus PMID:25741868|PMID:28492532 10053419 CV196240 NM_002693.3(POLG):c.1586-5del variant DOID:0080122 Alpers-Huttenlocher syndrome IAGP D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy PMID:25741868|PMID:26467025|PMID:28492532 10053419 CV196240 NM_002693.3(POLG):c.1586-5del variant DOID:2476 hereditary spastic paraplegia IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:25741868|PMID:26467025|PMID:28492532 10053419 CV196240 NM_002693.3(POLG):c.1586-5del variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 10053420 CV196241 NM_001048166.1(STIL):c.873-6G>T variant DOID:0070278 primary autosomal recessive microcephaly 7 IAGP D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: STIL-related condition 10053421 CV196242 NM_001032221.6(STXBP1):c.704G>A (p.Arg235Gln) variant DOID:0060470 salt and pepper syndrome IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Infantile epilepsy syndrome PMID:25533962|PMID:25741868|PMID:26865513|PMID:28492532|PMID:29761117|PMID:31474318 10053421 CV196242 NM_001032221.6(STXBP1):c.704G>A (p.Arg235Gln) variant DOID:0070338 cerebellar hypoplasia IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:25533962|PMID:25741868|PMID:26865513|PMID:28492532|PMID:29761117|PMID:31474318 10053421 CV196242 NM_001032221.6(STXBP1):c.704G>A (p.Arg235Gln) variant DOID:0080436 developmental and epileptic encephalopathy 4 IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 4 PMID:25533962|PMID:25741868|PMID:26865513|PMID:28492532|PMID:29761117|PMID:31474318 10053421 CV196242 NM_001032221.6(STXBP1):c.704G>A (p.Arg235Gln) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:25533962|PMID:25741868|PMID:26865513|PMID:28492532|PMID:29761117|PMID:31474318 10053423 CV196246 NM_003482.4(KMT2D):c.1149C>T (p.Asp383=) variant DOID:0060473 Kabuki syndrome IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Kabuki syndrome PMID:25741868|PMID:28492532 10053423 CV196246 NM_003482.4(KMT2D):c.1149C>T (p.Asp383=) variant DOID:9001255 Kabuki Syndrome 1 IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: KMT2D-Related Disorders PMID:25741868|PMID:28492532 10053425 CV196248 NM_004369.4(COL6A3):c.4103C>T (p.Thr1368Met) variant DOID:0050663 Bethlem myopathy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, benign congenital PMID:25741868|PMID:28492532 10053425 CV196248 NM_004369.4(COL6A3):c.4103C>T (p.Thr1368Met) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:25741868|PMID:28492532 10053426 CV196250 NM_004369.4(COL6A3):c.4217C>T (p.Thr1406Met) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:25741868|PMID:28492532 10053426 CV196250 NM_004369.4(COL6A3):c.4217C>T (p.Thr1406Met) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10053427 CV196251 NM_004369.4(COL6A3):c.4117G>A (p.Ala1373Thr) variant DOID:0050663 Bethlem myopathy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, benign congenital PMID:25224718|PMID:25741868|PMID:26004199|PMID:28492532 10053427 CV196251 NM_004369.4(COL6A3):c.4117G>A (p.Ala1373Thr) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:25224718|PMID:25741868|PMID:26004199|PMID:28492532 10053428 CV196252 NM_004369.4(COL6A3):c.3923G>A (p.Arg1308Gln) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1 PMID:28492532 10053429 CV196254 NM_004463.3(FGD1):c.1647G>A (p.Glu549=) variant DOID:6683 X-linked Aarskog syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: FGD1-Related Disorders PMID:28492532 10053430 CV196255 NM_004560.4(ROR2):c.2395C>T (p.Pro799Ser) variant DOID:0060764 autosomal recessive Robinow syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: ROR2-related disorder PMID:28492532 10053430 CV196255 NM_004560.4(ROR2):c.2395C>T (p.Pro799Ser) variant DOID:0110969 brachydactyly type B1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Brachydactyly type B1 PMID:28492532 10053431 CV196256 NM_004560.4(ROR2):c.*16G>A variant DOID:0060764 autosomal recessive Robinow syndrome IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Robinow syndrome, autosomal recessive PMID:25741868 10053431 CV196256 NM_004560.4(ROR2):c.*16G>A variant DOID:0110969 brachydactyly type B1 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Brachydactyly type B1 PMID:25741868 10053432 CV196257 NM_004560.4(ROR2):c.2080T>C (p.Cys694Arg) variant DOID:0060764 autosomal recessive Robinow syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal recessive Robinow syndrome PMID:25741868|PMID:28492532 10053432 CV196257 NM_004560.4(ROR2):c.2080T>C (p.Cys694Arg) variant DOID:0110969 brachydactyly type B1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Brachydactyly type B1 PMID:25741868|PMID:28492532 10053434 CV196260 NM_004937.3(CTNS):c.612C>T (p.Asn204=) variant DOID:9007952 Cystinosis, Ocular Nonnephropathic IAGP D RGD:8554872 20250729 ClinVar ClinVar Annotator: match by term: Ocular cystinosis PMID:28492532 10053437 CV196263 NM_005188.4(CBL):c.1320C>T (p.Gly440=) variant DOID:0080690 RASopathy IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: RASopathy PMID:28492532 10053437 CV196263 NM_005188.4(CBL):c.1320C>T (p.Gly440=) variant DOID:9002854 Noonan Syndrome-Like Disorder with or without Juvenile Myelomonocytic Leukemia IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: CBL SYNDROME PMID:28492532 10053438 CV196265 NM_005422.4(TECTA):c.2566G>T (p.Ala856Ser) variant DOID:0110479 autosomal recessive nonsyndromic deafness 21 IAGP D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: TECTA-related condition PMID:25741868 10053438 CV196265 NM_005422.4(TECTA):c.2566G>T (p.Ala856Ser) variant DOID:630 genetic disease IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 10053439 CV196267 NM_005506.4(SCARB2):c.1136C>T (p.Ala379Val) variant DOID:0111444 progressive myoclonus epilepsy 4 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Action myoclonus-renal failure syndrome PMID:25741868|PMID:28492532 10053439 CV196267 NM_005506.4(SCARB2):c.1136C>T (p.Ala379Val) variant DOID:630 genetic disease IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10053439 CV196267 NM_005506.4(SCARB2):c.1136C>T (p.Ala379Val) variant DOID:891 progressive myoclonus epilepsy IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Progressive myoclonic epilepsy PMID:25741868|PMID:28492532 10053441 CV196270 NM_170707.4(LMNA):c.1551G>A (p.Gln517=) variant DOID:0050440 familial partial lipodystrophy IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules PMID:17377071|PMID:18414213|PMID:18549403|PMID:19638735|PMID:24001739|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28679633 10053441 CV196270 NM_170707.4(LMNA):c.1551G>A (p.Gln517=) variant DOID:0050539 Charcot-Marie-Tooth disease type 2 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:17377071|PMID:18414213|PMID:18549403|PMID:19638735|PMID:24001739|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28679633 10053441 CV196270 NM_170707.4(LMNA):c.1551G>A (p.Gln517=) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:17377071|PMID:18414213|PMID:18549403|PMID:19638735|PMID:24001739|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28679633 10053441 CV196270 NM_170707.4(LMNA):c.1551G>A (p.Gln517=) variant DOID:0060762 restrictive dermopathy IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Lethal tight skin contracture syndrome PMID:17377071|PMID:18414213|PMID:18549403|PMID:19638735|PMID:24001739|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28679633 10053441 CV196270 NM_170707.4(LMNA):c.1551G>A (p.Gln517=) variant DOID:0070202 familial partial lipodystrophy type 2 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Familial partial lipodystrophy, Dunnigan type PMID:17377071|PMID:18414213|PMID:18549403|PMID:19638735|PMID:24001739|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28679633 10053441 CV196270 NM_170707.4(LMNA):c.1551G>A (p.Gln517=) variant DOID:0070246 X-linked Emery-Dreifuss muscular dystrophy 1 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures PMID:17377071|PMID:18414213|PMID:18549403|PMID:19638735|PMID:24001739|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28679633 10053441 CV196270 NM_170707.4(LMNA):c.1551G>A (p.Gln517=) variant DOID:0070247 autosomal dominant Emery-Dreifuss muscular dystrophy 2 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 2, autosomal dominant PMID:17377071|PMID:18414213|PMID:18549403|PMID:19638735|PMID:24001739|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28679633 10053441 CV196270 NM_170707.4(LMNA):c.1551G>A (p.Gln517=) variant DOID:0081128 mandibuloacral dysplasia type A lipodystrophy IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Mandibuloacral dysplasia with type A lipodystrophy PMID:17377071|PMID:18414213|PMID:18549403|PMID:19638735|PMID:24001739|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28679633 10053441 CV196270 NM_170707.4(LMNA):c.1551G>A (p.Gln517=) variant DOID:0110156 Charcot-Marie-Tooth disease type 2B1 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B1 PMID:17377071|PMID:18414213|PMID:18549403|PMID:19638735|PMID:24001739|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28679633 10053441 CV196270 NM_170707.4(LMNA):c.1551G>A (p.Gln517=) variant DOID:0110274 autosomal recessive limb-girdle muscular dystrophy IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, recessive PMID:17377071|PMID:18414213|PMID:18549403|PMID:19638735|PMID:24001739|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28679633 10053441 CV196270 NM_170707.4(LMNA):c.1551G>A (p.Gln517=) variant DOID:0110425 dilated cardiomyopathy 1A IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:17377071|PMID:18414213|PMID:18549403|PMID:19638735|PMID:24001739|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28679633 10053441 CV196270 NM_170707.4(LMNA):c.1551G>A (p.Gln517=) variant DOID:0110640 congenital muscular dystrophy due to LMNA mutation IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy due to LMNA mutation PMID:17377071|PMID:18414213|PMID:18549403|PMID:19638735|PMID:24001739|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28679633 10053441 CV196270 NM_170707.4(LMNA):c.1551G>A (p.Gln517=) variant DOID:10595 Charcot-Marie-Tooth disease IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:17377071|PMID:18414213|PMID:18549403|PMID:19638735|PMID:24001739|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28679633 10053441 CV196270 NM_170707.4(LMNA):c.1551G>A (p.Gln517=) variant DOID:11726 Emery-Dreifuss muscular dystrophy IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:17377071|PMID:18414213|PMID:18549403|PMID:19638735|PMID:24001739|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28679633 10053441 CV196270 NM_170707.4(LMNA):c.1551G>A (p.Gln517=) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:17377071|PMID:18414213|PMID:18549403|PMID:19638735|PMID:24001739|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28679633 10053441 CV196270 NM_170707.4(LMNA):c.1551G>A (p.Gln517=) variant DOID:3911 progeria IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hutchinson-Gilford syndrome PMID:17377071|PMID:18414213|PMID:18549403|PMID:19638735|PMID:24001739|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28679633 10053442 CV196271 NM_005592.4(MUSK):c.929A>C (p.Gln310Pro) variant DOID:0110670 congenital myasthenic syndrome 9 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency PMID:28492532 10053442 CV196271 NM_005592.4(MUSK):c.929A>C (p.Gln310Pro) variant DOID:0111377 fetal akinesia deformation sequence syndrome 1 IAGP D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Pena-Shokeir syndrome type I PMID:28492532 10053443 CV196273 NM_005765.3(ATP6AP2):c.980A>G (p.Asn327Ser) variant DOID:0060806 syndromic X-linked intellectual disability Hedera type IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Hedera type PMID:25741868|PMID:28492532 10053443 CV196273 NM_005765.3(ATP6AP2):c.980A>G (p.Asn327Ser) variant DOID:630 genetic disease IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10053444 CV196274 NM_005957.5(MTHFR):c.1392C>T (p.Thr464=) variant DOID:9001648 Methylenetetrahydrofolate Reductase Deficiency IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency PMID:28492532 10053445 CV196275 NM_005957.5(MTHFR):c.1515C>T (p.Gly505=) variant DOID:9001648 Methylenetetrahydrofolate Reductase Deficiency IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY PMID:28492532 10053448 CV196280 NM_006279.5(ST3GAL3):c.660C>T (p.Tyr220=) variant DOID:0080414 developmental and epileptic encephalopathy 15 IAGP D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: ST3GAL3-related condition PMID:28492532 10053448 CV196280 NM_006279.5(ST3GAL3):c.660C>T (p.Tyr220=) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:28492532 10053448 CV196280 NM_006279.5(ST3GAL3):c.660C>T (p.Tyr220=) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10053450 CV196283 NM_007254.4(PNKP):c.853A>G (p.Ile285Val) variant DOID:0080459 developmental and epileptic encephalopathy 12 IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12 PMID:28492532 10053452 CV196288 NM_012470.4(TNPO3):c.1179T>C (p.Thr393=) variant DOID:0110304 autosomal dominant limb-girdle muscular dystrophy type 2 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1F PMID:28492532 10053454 CV196290 NM_014467.3(SRPX2):c.981C>G (p.Asn327Lys) variant DOID:9008407 ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked PMID:25741868|PMID:28492532 10053455 CV196293 NM_015102.5(NPHP4):c.1079T>C (p.Leu360Pro) variant DOID:0111115 nephronophthisis 4 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Nephronophthisis 4 PMID:25741868 10053456 CV196294 NM_015102.5(NPHP4):c.1089G>T (p.Val363=) variant DOID:0111115 nephronophthisis 4 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephronophthisis 4 PMID:25741868|PMID:28492532 10053456 CV196294 NM_015102.5(NPHP4):c.1089G>T (p.Val363=) variant DOID:12712 nephronophthisis IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephronophthisis PMID:25741868|PMID:28492532 10053457 CV196296 NM_015404.4(WHRN):c.2203G>A (p.Val735Ile) variant DOID:0110490 autosomal recessive nonsyndromic deafness 31 IAGP D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: WHRN-related condition PMID:24033266|PMID:25741868|PMID:28492532 10053459 CV196298 NM_015404.4(WHRN):c.1943C>A (p.Ser648Tyr) variant DOID:0110490 autosomal recessive nonsyndromic deafness 31 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 31 PMID:20352026|PMID:22277662|PMID:25741868|PMID:26969326|PMID:28492532 10053459 CV196298 NM_015404.4(WHRN):c.1943C>A (p.Ser648Tyr) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:20352026|PMID:22277662|PMID:25741868|PMID:26969326|PMID:28492532 10053460 CV196300 NM_001134831.2(AHI1):c.1157G>A (p.Arg386Gln) variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:25741868|PMID:28492532 10053460 CV196300 NM_001134831.2(AHI1):c.1157G>A (p.Arg386Gln) variant DOID:0110998 Joubert syndrome 3 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Joubert syndrome 3 PMID:25741868|PMID:28492532 10053460 CV196300 NM_001134831.2(AHI1):c.1157G>A (p.Arg386Gln) variant DOID:630 genetic disease IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10053461 CV196301 NM_017780.4(CHD7):c.2680A>G (p.Thr894Ala) variant DOID:0050834 CHARGE syndrome IAGP D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: CHARGE syndrome PMID:21158681|PMID:24033266|PMID:28492532 10053461 CV196301 NM_017780.4(CHD7):c.2680A>G (p.Thr894Ala) variant DOID:0090084 hypogonadotropic hypogonadism 5 with or without anosmia IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 5 with or without anosmia PMID:21158681|PMID:24033266|PMID:28492532 10053461 CV196301 NM_017780.4(CHD7):c.2680A>G (p.Thr894Ala) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21158681|PMID:24033266|PMID:28492532 10053462 CV196302 NM_017780.4(CHD7):c.2614-7G>T variant DOID:0050834 CHARGE syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: CHARGE association PMID:28492532 10053462 CV196302 NM_017780.4(CHD7):c.2614-7G>T variant DOID:9004226 Hittner Hirsch Kreh Syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome PMID:28492532 10053463 CV196303 NM_152564.5(VPS13B):c.1296A>G (p.Thr432=) variant DOID:0111590 Cohen syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Pepper syndrome PMID:28492532 10053463 CV196303 NM_152564.5(VPS13B):c.1296A>G (p.Thr432=) variant DOID:9001162 Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness PMID:28492532 10053464 CV196304 NM_018136.5(ASPM):c.2679G>T (p.Leu893Phe) variant DOID:0070280 primary autosomal recessive microcephaly 5 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Microcephaly 5, primary, autosomal recessive PMID:25741868|PMID:28492532 10053464 CV196304 NM_018136.5(ASPM):c.2679G>T (p.Leu893Phe) variant DOID:630 genetic disease IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10053465 CV196305 NM_001378120.1(MBD5):c.2279A>G (p.His760Arg) variant DOID:0070031 autosomal dominant intellectual developmental disorder 1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: MBD5-related condition PMID:28492532 10053465 CV196305 NM_001378120.1(MBD5):c.2279A>G (p.His760Arg) variant DOID:630 genetic disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10053466 CV196306 NM_001378120.1(MBD5):c.796A>G (p.Ile266Val) variant DOID:0070031 autosomal dominant intellectual developmental disorder 1 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Mental retardation, autosomal dominant 1 PMID:25741868|PMID:28492532 10053466 CV196306 NM_001378120.1(MBD5):c.796A>G (p.Ile266Val) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10053467 CV196307 NM_001378120.1(MBD5):c.599G>A (p.Arg200Gln) variant DOID:0070031 autosomal dominant intellectual developmental disorder 1 IAGP D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Mental retardation, autosomal dominant 1 PMID:26467025|PMID:28492532 10053467 CV196307 NM_001378120.1(MBD5):c.599G>A (p.Arg200Gln) variant DOID:0080444 developmental and epileptic encephalopathy 27 IAGP D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: developmental delay with intractable seizures PMID:26467025|PMID:28492532 10053467 CV196307 NM_001378120.1(MBD5):c.599G>A (p.Arg200Gln) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532 10053468 CV196308 NM_001378120.1(MBD5):c.692T>C (p.Ile231Thr) variant DOID:0070031 autosomal dominant intellectual developmental disorder 1 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Mental retardation, autosomal dominant 1 PMID:25741868|PMID:28492532 10053468 CV196308 NM_001378120.1(MBD5):c.692T>C (p.Ile231Thr) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10053469 CV196309 NM_001378120.1(MBD5):c.1406A>G (p.His469Arg) variant DOID:0070031 autosomal dominant intellectual developmental disorder 1 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Mental retardation, autosomal dominant 1 PMID:28492532 10053469 CV196309 NM_001378120.1(MBD5):c.1406A>G (p.His469Arg) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10053470 CV196311 NM_001378120.1(MBD5):c.1094C>T (p.Pro365Leu) variant DOID:0070031 autosomal dominant intellectual developmental disorder 1 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 1 PMID:28492532 10053471 CV196312 NM_001378120.1(MBD5):c.980T>C (p.Met327Thr) variant DOID:0070031 autosomal dominant intellectual developmental disorder 1 IAGP D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Mental retardation, autosomal dominant 1 PMID:28492532 10053472 CV196313 NM_001378120.1(MBD5):c.664C>T (p.Pro222Ser) variant DOID:0070031 autosomal dominant intellectual developmental disorder 1 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 1 PMID:28492532 10053474 CV196318 NM_020686.6(ABAT):c.587C>T (p.Thr196Met) variant DOID:0060174 GABA aminotransferase deficiency IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiency PMID:28492532 10053476 CV196322 NM_022098.4(XPNPEP3):c.1244G>A (p.Arg415Gln) variant DOID:0111117 nephronophthisis-like nephropathy 1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 1 PMID:25741868|PMID:28492532 10053477 CV196323 NM_022436.3(ABCG5):c.1284C>T (p.Gly428=) variant DOID:0090019 sitosterolemia IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Sitosterolemia PMID:25741868|PMID:28492532 10053479 CV196325 NM_022455.5(NSD1):c.4303-4A>G variant DOID:14748 Sotos syndrome IAGP D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Sotos syndrome PMID:25741868|PMID:28492532 10053481 CV196327 NM_022464.5(SIL1):c.984C>T (p.Leu328=) variant DOID:0080195 Marinesco-Sjogren syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Marinesco-Sjögren syndrome PMID:26467025|PMID:28492532 10053482 CV196328 NM_023036.6(DNAI2):c.1188G>A (p.Arg396=) variant DOID:9562 primary ciliary dyskinesia IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:28492532 10053483 CV196329 NM_001384732.1(CPLANE1):c.968C>T (p.Thr323Met) variant DOID:0060376 Joubert syndrome with orofaciodigital defect IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Oral-facial-digital syndrome type 6 PMID:25741868|PMID:26092869|PMID:28492532 10053483 CV196329 NM_001384732.1(CPLANE1):c.968C>T (p.Thr323Met) variant DOID:0110986 Joubert Syndrome 17 IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Joubert syndrome 17 PMID:25741868|PMID:26092869|PMID:28492532 10053484 CV196330 NM_024596.5(MCPH1):c.1930A>G (p.Lys644Glu) variant DOID:630 genetic disease IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10053485 CV196331 NM_024757.5(EHMT1):c.1425C>T (p.Asp475=) variant DOID:0060352 Kleefstra syndrome 1 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Kleefstra syndrome 1 PMID:28492532 10053486 CV196333 NM_031220.4(PITPNM3):c.987G>A (p.Leu329=) variant DOID:0111010 cone-rod dystrophy 5 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Cone-rod dystrophy 5 PMID:28492532 10053488 CV196335 NM_001122955.4(BSCL2):c.1100C>T (p.Pro367Leu) variant DOID:0050539 Charcot-Marie-Tooth disease type 2 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 PMID:25741868|PMID:26467025|PMID:28492532 10053488 CV196335 NM_001122955.4(BSCL2):c.1100C>T (p.Pro367Leu) variant DOID:0050585 congenital generalized lipodystrophy IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Congenital generalized lipodystrophy PMID:25741868|PMID:26467025|PMID:28492532 10053488 CV196335 NM_001122955.4(BSCL2):c.1100C>T (p.Pro367Leu) variant DOID:2476 hereditary spastic paraplegia IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:25741868|PMID:26467025|PMID:28492532 10053488 CV196335 NM_001122955.4(BSCL2):c.1100C>T (p.Pro367Leu) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26467025|PMID:28492532 10053490 CV196337 NM_182961.4(SYNE1):c.590G>A (p.Gly197Glu) variant DOID:0111618 autosomal recessive spinocerebellar ataxia 8 IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 PMID:28492532 10053491 CV196338 NM_054027.6(ANKH):c.1141+5A>G variant DOID:0080801 autosomal dominant craniometaphyseal dysplasia IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Craniometaphyseal dysplasia Jackson type PMID:28492532 10053491 CV196338 NM_054027.6(ANKH):c.1141+5A>G variant DOID:9006590 Chondrocalcinosis 2 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Calcium gout PMID:28492532 10053493 CV196340 NM_001267550.2(TTN):c.1447G>A (p.Ala483Thr) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Early-onset myopathy with fatal cardiomyopathy PMID:25741868|PMID:28492532 10053493 CV196340 NM_001267550.2(TTN):c.1447G>A (p.Ala483Thr) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:25741868|PMID:28492532 10053493 CV196340 NM_001267550.2(TTN):c.1447G>A (p.Ala483Thr) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:25741868|PMID:28492532 10053493 CV196340 NM_001267550.2(TTN):c.1447G>A (p.Ala483Thr) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:25741868|PMID:28492532 10053493 CV196340 NM_001267550.2(TTN):c.1447G>A (p.Ala483Thr) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:25741868|PMID:28492532 10053494 CV196341 NM_133433.4(NIPBL):c.1392T>A (p.Pro464=) variant DOID:0080505 Cornelia de Lange syndrome 1 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cornelia de Lange syndrome 1 PMID:25741868|PMID:28492532 10053496 CV196344 NM_138694.4(PKHD1):c.652G>A (p.Glu218Lys) variant DOID:0050770 polycystic liver disease IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Congenital cystic disease of liver PMID:16133180|PMID:25646624|PMID:25701400|PMID:25741868|PMID:26489027|PMID:27225849|PMID:28492532 10053496 CV196344 NM_138694.4(PKHD1):c.652G>A (p.Glu218Lys) variant DOID:0080212 polycystic kidney disease 4 IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Polycystic kidney disease 4 PMID:16133180|PMID:25646624|PMID:25701400|PMID:25741868|PMID:26489027|PMID:27225849|PMID:28492532 10053496 CV196344 NM_138694.4(PKHD1):c.652G>A (p.Glu218Lys) variant DOID:0110860 polycystic kidney disease 3 IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: PKD3 PMID:16133180|PMID:25646624|PMID:25701400|PMID:25741868|PMID:26489027|PMID:27225849|PMID:28492532 10053496 CV196344 NM_138694.4(PKHD1):c.652G>A (p.Glu218Lys) variant DOID:0110861 autosomal recessive polycystic kidney disease IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Autosomal recessive polycystic kidney disease PMID:16133180|PMID:25646624|PMID:25701400|PMID:25741868|PMID:26489027|PMID:27225849|PMID:28492532 10053496 CV196344 NM_138694.4(PKHD1):c.652G>A (p.Glu218Lys) variant DOID:898 autosomal dominant polycystic kidney disease IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1 PMID:16133180|PMID:25646624|PMID:25701400|PMID:25741868|PMID:26489027|PMID:27225849|PMID:28492532 10053497 CV196347 NM_001128225.3(SLC39A13):c.978C>T (p.Gly326=) variant DOID:0080739 Ehlers-Danlos syndrome spondylodysplastic type 3 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Spondylocheirodysplasia, Ehlers-Danlos syndrome-like PMID:28492532 10053498 CV196348 NM_001371596.2(MFSD8):c.863+4A>G variant DOID:0110722 neuronal ceroid lipofuscinosis 7 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7 PMID:17576681|PMID:25741868|PMID:28492532|PMID:28758139|PMID:31741823|PMID:33084218|PMID:9536098 10053499 CV196351 NM_176824.3(BBS7):c.865G>A (p.Val289Ile) variant DOID:0110129 Bardet-Biedl syndrome 7 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: BBS7-related condition PMID:28492532 10053499 CV196351 NM_176824.3(BBS7):c.865G>A (p.Val289Ile) variant DOID:1935 Bardet-Biedl syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:28492532 10053499 CV196351 NM_176824.3(BBS7):c.865G>A (p.Val289Ile) variant DOID:630 genetic disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10053500 CV196352 NM_178452.6(DNAAF1):c.1532C>T (p.Pro511Leu) variant DOID:0110618 primary ciliary dyskinesia 13 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: DNAAF1-related condition PMID:25741868|PMID:28492532 10053500 CV196352 NM_178452.6(DNAAF1):c.1532C>T (p.Pro511Leu) variant DOID:9562 primary ciliary dyskinesia IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:25741868|PMID:28492532 10053501 CV196353 NM_181426.2(CCDC39):c.1035-5T>C variant DOID:9562 primary ciliary dyskinesia IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia PMID:25741868|PMID:28492532 10053502 CV196354 NM_001122769.3(LCA5):c.2026G>T (p.Asp676Tyr) variant DOID:0110215 Leber congenital amaurosis 5 IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 5 PMID:25741868|PMID:28492532 10053502 CV196354 NM_001122769.3(LCA5):c.2026G>T (p.Asp676Tyr) variant DOID:14791 Leber congenital amaurosis IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis PMID:25741868|PMID:28492532 10053504 CV196356 NM_001174150.2(ARL13B):c.1186C>G (p.Pro396Ala) variant DOID:0110980 Joubert syndrome 1 IAGP D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Joubert syndrome 1 PMID:25741868|PMID:28492532 10053504 CV196356 NM_001174150.2(ARL13B):c.1186C>G (p.Pro396Ala) variant DOID:0111003 Joubert syndrome 8 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Joubert syndrome 8 PMID:25741868|PMID:28492532 10053505 CV196357 NM_198525.3(KIF7):c.1958C>T (p.Ala653Val) variant DOID:9250 acrocallosal syndrome IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Acrocallosal syndrome PMID:28492532 10053506 CV196358 NM_201253.3(CRB1):c.3317A>G (p.Tyr1106Cys) variant DOID:0110079 Leber congenital amaurosis 8 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 8 PMID:25741868|PMID:28492532 10053506 CV196358 NM_201253.3(CRB1):c.3317A>G (p.Tyr1106Cys) variant DOID:0110358 retinitis pigmentosa 12 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 12 PMID:25741868|PMID:28492532 10053506 CV196358 NM_201253.3(CRB1):c.3317A>G (p.Tyr1106Cys) variant DOID:0111541 pigmented paravenous chorioretinal atrophy IAGP D RGD:8554872 20250729 ClinVar ClinVar Annotator: match by term: Pigmented paravenous retinochoroidal atrophy PMID:25741868|PMID:28492532 10053510 CV196370 NM_182914.3(SYNE2):c.16480-10C>G variant DOID:0070250 autosomal dominant Emery-Dreifuss muscular dystrophy 5 IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 5, autosomal dominant PMID:26467025|PMID:28492532 10053511 CV196371 NM_000540.3(RYR1):c.13142C>G (p.Ala4381Gly) variant DOID:0080991 congenital myopathy 1B IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Minicore myopathy with external ophthalmoplegia PMID:28492532 10053511 CV196371 NM_000540.3(RYR1):c.13142C>G (p.Ala4381Gly) variant DOID:3529 congenital myopathy 1A IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Shy-Magee syndrome PMID:28492532 10053511 CV196371 NM_000540.3(RYR1):c.13142C>G (p.Ala4381Gly) variant DOID:630 genetic disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10053511 CV196371 NM_000540.3(RYR1):c.13142C>G (p.Ala4381Gly) variant DOID:8545 malignant hyperthermia IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant hyperpyrexia PMID:28492532 10053511 CV196371 NM_000540.3(RYR1):c.13142C>G (p.Ala4381Gly) variant DOID:9005320 Malignant Fever IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pharmacogenic myopathy PMID:28492532 10053512 CV196372 NM_000540.3(RYR1):c.13271A>C (p.Glu4424Ala) variant DOID:0080102 congenital myopathy 4A IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion PMID:25741868|PMID:28492532 10053512 CV196372 NM_000540.3(RYR1):c.13271A>C (p.Glu4424Ala) variant DOID:0080990 King Denborough syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: King syndrome PMID:25741868|PMID:28492532 10053512 CV196372 NM_000540.3(RYR1):c.13271A>C (p.Glu4424Ala) variant DOID:0080991 congenital myopathy 1B IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Multiminicore disease with external ophthalmoplegia PMID:25741868|PMID:28492532 10053512 CV196372 NM_000540.3(RYR1):c.13271A>C (p.Glu4424Ala) variant DOID:3529 congenital myopathy 1A IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Shy-Magee syndrome PMID:25741868|PMID:28492532 10053512 CV196372 NM_000540.3(RYR1):c.13271A>C (p.Glu4424Ala) variant DOID:422 congenital structural myopathy IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy PMID:25741868|PMID:28492532 10053512 CV196372 NM_000540.3(RYR1):c.13271A>C (p.Glu4424Ala) variant DOID:8545 malignant hyperthermia IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Malignant hyperpyrexia PMID:25741868|PMID:28492532 10053512 CV196372 NM_000540.3(RYR1):c.13271A>C (p.Glu4424Ala) variant DOID:9005320 Malignant Fever IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pharmacogenic myopathy PMID:25741868|PMID:28492532 10053513 CV196374 NM_000540.3(RYR1):c.13044G>A (p.Ala4348=) variant DOID:0080102 congenital myopathy 4A IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion PMID:25741868|PMID:28492532 10053513 CV196374 NM_000540.3(RYR1):c.13044G>A (p.Ala4348=) variant DOID:0080990 King Denborough syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: King syndrome PMID:25741868|PMID:28492532 10053513 CV196374 NM_000540.3(RYR1):c.13044G>A (p.Ala4348=) variant DOID:0080991 congenital myopathy 1B IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Multiminicore disease with external ophthalmoplegia PMID:25741868|PMID:28492532 10053513 CV196374 NM_000540.3(RYR1):c.13044G>A (p.Ala4348=) variant DOID:3529 congenital myopathy 1A IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Shy-Magee syndrome PMID:25741868|PMID:28492532 10053513 CV196374 NM_000540.3(RYR1):c.13044G>A (p.Ala4348=) variant DOID:422 congenital structural myopathy IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy PMID:25741868|PMID:28492532 10053513 CV196374 NM_000540.3(RYR1):c.13044G>A (p.Ala4348=) variant DOID:8545 malignant hyperthermia IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Malignant hyperpyrexia PMID:25741868|PMID:28492532 10053513 CV196374 NM_000540.3(RYR1):c.13044G>A (p.Ala4348=) variant DOID:9005320 Malignant Fever IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pharmacogenic myopathy PMID:25741868|PMID:28492532 10053515 CV196376 NM_000540.3(RYR1):c.12956G>A (p.Arg4319Gln) variant DOID:0080991 congenital myopathy 1B IAGP D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Multiminicore myopathy PMID:25741868|PMID:28492532 10053515 CV196376 NM_000540.3(RYR1):c.12956G>A (p.Arg4319Gln) variant DOID:3529 congenital myopathy 1A IAGP D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Central core disease PMID:25741868|PMID:28492532 10053515 CV196376 NM_000540.3(RYR1):c.12956G>A (p.Arg4319Gln) variant DOID:8545 malignant hyperthermia IAGP D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Malignant hyperthermia susceptibility PMID:25741868|PMID:28492532 10053515 CV196376 NM_000540.3(RYR1):c.12956G>A (p.Arg4319Gln) variant DOID:9005001 Congenital Neuromuscular Disease, with Uniform Type 1 Fiber IAGP D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Neuromuscular disease, congenital, with uniform type 1 fiber PMID:25741868|PMID:28492532 10053515 CV196376 NM_000540.3(RYR1):c.12956G>A (p.Arg4319Gln) variant DOID:9005320 Malignant Fever IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Pharmacogenic myopathy PMID:25741868|PMID:28492532 10053516 CV196378 NM_182961.4(SYNE1):c.17505C>T (p.Leu5835=) variant DOID:0070249 autosomal dominant Emery-Dreifuss muscular dystrophy 4 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant PMID:28492532 10053516 CV196378 NM_182961.4(SYNE1):c.17505C>T (p.Leu5835=) variant DOID:0111618 autosomal recessive spinocerebellar ataxia 8 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 PMID:28492532 10053517 CV196379 NM_182914.3(SYNE2):c.16718G>A (p.Arg5573Gln) variant DOID:0070250 autosomal dominant Emery-Dreifuss muscular dystrophy 5 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: SYNE2-related condition PMID:28492532 10053518 CV196380 NM_001164508.2(NEB):c.18842A>G (p.Glu6281Gly) variant DOID:0110928 nemaline myopathy 2 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 2 PMID:28492532 10053518 CV196380 NM_001164508.2(NEB):c.18842A>G (p.Glu6281Gly) variant DOID:630 genetic disease IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10053519 CV196381 NM_001164508.2(NEB):c.18786C>T (p.Tyr6262=) variant DOID:0070336 arthrogryposis multiplex congenita-6 IAGP D RGD:8554872 20250821 ClinVar ClinVar Annotator: match by term: NEB-related disorder PMID:28492532 10053519 CV196381 NM_001164508.2(NEB):c.18786C>T (p.Tyr6262=) variant DOID:0110928 nemaline myopathy 2 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 2 PMID:28492532 10053520 CV196382 NM_001164508.2(NEB):c.18862G>A (p.Val6288Ile) variant DOID:0110928 nemaline myopathy 2 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 2 PMID:25741868|PMID:28492532 10053520 CV196382 NM_001164508.2(NEB):c.18862G>A (p.Val6288Ile) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10053521 CV196384 NM_182961.4(SYNE1):c.17757C>T (p.Ser5919=) variant DOID:0111618 autosomal recessive spinocerebellar ataxia 8 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type PMID:28492532 10053522 CV196385 NM_182961.4(SYNE1):c.17797G>A (p.Ala5933Thr) variant DOID:0070249 autosomal dominant Emery-Dreifuss muscular dystrophy 4 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant PMID:26467025|PMID:28492532 10053522 CV196385 NM_182961.4(SYNE1):c.17797G>A (p.Ala5933Thr) variant DOID:0111618 autosomal recessive spinocerebellar ataxia 8 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 PMID:26467025|PMID:28492532 10053523 CV196386 NM_182961.4(SYNE1):c.17827T>C (p.Ser5943Pro) variant DOID:0070249 autosomal dominant Emery-Dreifuss muscular dystrophy 4 IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant PMID:25741868|PMID:26467025|PMID:28492532|PMID:31692161 10053523 CV196386 NM_182961.4(SYNE1):c.17827T>C (p.Ser5943Pro) variant DOID:0111618 autosomal recessive spinocerebellar ataxia 8 IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 8 PMID:25741868|PMID:26467025|PMID:28492532|PMID:31692161 10053523 CV196386 NM_182961.4(SYNE1):c.17827T>C (p.Ser5943Pro) variant DOID:1059 intellectual disability IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:26467025|PMID:28492532|PMID:31692161 10053524 CV196388 NM_000540.3(RYR1):c.13680T>C (p.Phe4560=) variant DOID:0080991 congenital myopathy 1B IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Minicore myopathy with external ophthalmoplegia PMID:25741868|PMID:28492532 10053524 CV196388 NM_000540.3(RYR1):c.13680T>C (p.Phe4560=) variant DOID:8545 malignant hyperthermia IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Malignant hyperpyrexia PMID:25741868|PMID:28492532 10053524 CV196388 NM_000540.3(RYR1):c.13680T>C (p.Phe4560=) variant DOID:9005320 Malignant Fever IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Pharmacogenic myopathy PMID:25741868|PMID:28492532 10053529 CV196393 NM_005529.7(HSPG2):c.12874G>A (p.Glu4292Lys) variant DOID:0090005 Schwartz-Jampel syndrome 1 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Schwartz-Jampel syndrome PMID:24828792|PMID:25504735|PMID:26467025|PMID:28492532|PMID:30753492|PMID:39035772 10053529 CV196393 NM_005529.7(HSPG2):c.12874G>A (p.Glu4292Lys) variant DOID:9005084 Kniest Like Dysplasia Lethal IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Lethal Kniest-like syndrome PMID:24828792|PMID:25504735|PMID:26467025|PMID:28492532|PMID:30753492|PMID:39035772 10053530 CV196394 NM_005529.7(HSPG2):c.12842G>A (p.Arg4281His) variant DOID:0090005 Schwartz-Jampel syndrome 1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: HSPG2-related disorder PMID:26467025|PMID:28492532 10053530 CV196394 NM_005529.7(HSPG2):c.12842G>A (p.Arg4281His) variant DOID:630 genetic disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532 10053532 CV196403 NM_182961.4(SYNE1):c.18432A>C (p.Ser6144=) variant DOID:0111618 autosomal recessive spinocerebellar ataxia 8 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type PMID:28492532 10053533 CV196404 NM_001267550.2(TTN):c.28983G>A (p.Val9661=) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:28492532 10053535 CV196407 NM_000540.3(RYR1):c.14203C>T (p.Arg4735Trp) variant DOID:0080102 congenital myopathy 4A IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion PMID:21118704|PMID:24433488|PMID:25741868|PMID:26467025|PMID:28492532|PMID:37432431 10053535 CV196407 NM_000540.3(RYR1):c.14203C>T (p.Arg4735Trp) variant DOID:0080990 King Denborough syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: King syndrome PMID:21118704|PMID:24433488|PMID:25741868|PMID:26467025|PMID:28492532|PMID:37432431 10053535 CV196407 NM_000540.3(RYR1):c.14203C>T (p.Arg4735Trp) variant DOID:0080991 congenital myopathy 1B IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Minicore myopathy PMID:21118704|PMID:24433488|PMID:25741868|PMID:26467025|PMID:28492532|PMID:37432431 10053535 CV196407 NM_000540.3(RYR1):c.14203C>T (p.Arg4735Trp) variant DOID:3529 congenital myopathy 1A IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Shy-Magee syndrome PMID:21118704|PMID:24433488|PMID:25741868|PMID:26467025|PMID:28492532|PMID:37432431 10053535 CV196407 NM_000540.3(RYR1):c.14203C>T (p.Arg4735Trp) variant DOID:422 congenital structural myopathy IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy PMID:21118704|PMID:24433488|PMID:25741868|PMID:26467025|PMID:28492532|PMID:37432431 10053535 CV196407 NM_000540.3(RYR1):c.14203C>T (p.Arg4735Trp) variant DOID:630 genetic disease IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21118704|PMID:24433488|PMID:25741868|PMID:26467025|PMID:28492532|PMID:37432431 10053535 CV196407 NM_000540.3(RYR1):c.14203C>T (p.Arg4735Trp) variant DOID:8545 malignant hyperthermia IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Malignant hyperpyrexia PMID:21118704|PMID:24433488|PMID:25741868|PMID:26467025|PMID:28492532|PMID:37432431 10053535 CV196407 NM_000540.3(RYR1):c.14203C>T (p.Arg4735Trp) variant DOID:9005320 Malignant Fever IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Pharmacogenic myopathy PMID:21118704|PMID:24433488|PMID:25741868|PMID:26467025|PMID:28492532|PMID:37432431 10053536 CV196408 NM_001267550.2(TTN):c.29100dup (p.Val9701fs) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:23975875|PMID:25589632|PMID:27869827|PMID:28492532|PMID:29691892|PMID:32964742 10053537 CV196409 NM_001164508.2(NEB):c.19544G>A (p.Arg6515His) variant DOID:0110928 nemaline myopathy 2 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 2 PMID:25741868|PMID:28492532 10053538 CV196410 NM_182961.4(SYNE1):c.18727G>A (p.Glu6243Lys) variant DOID:0111618 autosomal recessive spinocerebellar ataxia 8 IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Autosomal recessive ataxia, Beauce type PMID:25741868|PMID:28492532 10053539 CV196411 NM_001267550.2(TTN):c.29219A>G (p.Asn9740Ser) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868 10053541 CV196414 NM_004371.4(COPA):c.698G>A (p.Arg233His) variant DOID:0081242 autoimmune interstitial lung, joint, and kidney disease IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease PMID:25741868|PMID:25894502|PMID:27577878|PMID:28492532 10053542 CV196415 NM_004371.4(COPA):c.728A>G (p.Asp243Gly) variant DOID:0081242 autoimmune interstitial lung, joint, and kidney disease IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung, joint, and kidney disease PMID:25894502|PMID:28492532 10053543 CV196416 NM_004371.4(COPA):c.721G>A (p.Glu241Lys) variant DOID:0081242 autoimmune interstitial lung, joint, and kidney disease IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome PMID:25741868|PMID:25894502|PMID:28492532|PMID:29137621 10053544 CV196418 NM_004946.3(DOCK2):c.3724_3725dup (p.Leu1244fs) variant DOID:0111951 immunodeficiency 40 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Immunodeficiency 40 PMID:26083206 10053545 CV196419 NM_004946.3(DOCK2):c.3970C>T (p.Gln1324Ter) variant DOID:0111951 immunodeficiency 40 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Immunodeficiency 40 PMID:26083206 10053546 CV196420 NM_004946.3(DOCK2):c.3310C>T (p.Arg1104Trp) variant DOID:0111951 immunodeficiency 40 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: DOCK2 deficiency PMID:26083206|PMID:28492532|PMID:29204803 10053547 CV196421 NM_004946.3(DOCK2):c.2253G>T (p.Arg751Ser) variant DOID:0111951 immunodeficiency 40 IAGP D RGD:8554872 20191008 ClinVar ClinVar Annotator: match by term: Immunodeficiency 40 PMID:26083206 10053549 CV196423 NM_005045.4(RELN):c.2392C>A (p.His798Asn) variant DOID:0060751 familial temporal lobe epilepsy 7 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 7 PMID:26046367 10053550 CV196424 NM_005045.4(RELN):c.8347G>T (p.Gly2783Cys) variant DOID:0060751 familial temporal lobe epilepsy 7 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 7 PMID:26046367 10053551 CV196425 NM_005045.4(RELN):c.2288A>G (p.Asp763Gly) variant DOID:0060751 familial temporal lobe epilepsy 7 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 7 PMID:26046367 10053552 CV196426 NM_005045.4(RELN):c.9526G>A (p.Glu3176Lys) variant DOID:0060751 familial temporal lobe epilepsy 7 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 7 PMID:26046367 10053553 CV196427 NM_014176.4(UBE2T):c.4C>G (p.Gln2Glu) variant DOID:0111081 Fanconi anemia complementation group T IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group T PMID:25741868|PMID:26046368 10053554 CV196428 NM_014176.4(UBE2T):c.179+5G>A variant DOID:0111081 Fanconi anemia complementation group T IAGP D RGD:8554872 20180710 ClinVar ClinVar Annotator: match by term: Fanconi anemia, complementation group t PMID:26046368 10053555 CV196430 NM_000083.3(CLCN1):c.2926C>T (p.Arg976Ter) variant DOID:0081335 Becker disease IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form PMID:21221019|PMID:23408874|PMID:23739125|PMID:23810313|PMID:25741868|PMID:28492532|PMID:33263785|PMID:34529042|PMID:36540316 10053555 CV196430 NM_000083.3(CLCN1):c.2926C>T (p.Arg976Ter) variant DOID:0081336 Thomsen disease IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Thomsen's disease PMID:21221019|PMID:23408874|PMID:23739125|PMID:23810313|PMID:25741868|PMID:28492532|PMID:33263785|PMID:34529042|PMID:36540316 10053555 CV196430 NM_000083.3(CLCN1):c.2926C>T (p.Arg976Ter) variant DOID:0081337 congenital myopathy IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Batten-Turner congenital myopathy PMID:21221019|PMID:23408874|PMID:23739125|PMID:23810313|PMID:25741868|PMID:28492532|PMID:33263785|PMID:34529042|PMID:36540316 10053555 CV196430 NM_000083.3(CLCN1):c.2926C>T (p.Arg976Ter) variant DOID:2106 myotonia congenita IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Batten-Turner congenital myopathy PMID:21221019|PMID:23408874|PMID:23739125|PMID:23810313|PMID:25741868|PMID:28492532|PMID:33263785|PMID:34529042|PMID:36540316 10053557 CV196432 NM_207111.4(RNF216):c.1367G>A (p.Gly456Glu) variant DOID:0111587 Gordon Holmes syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Gordon holmes syndrome PMID:25841028 10053558 CV196433 NM_207111.4(RNF216):c.904C>T (p.Gln302Ter) variant DOID:0111587 Gordon Holmes syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Gordon holmes syndrome PMID:25841028 10053559 CV196434 NM_207111.4(RNF216):c.1616A>G (p.Tyr539Cys) variant DOID:0111587 Gordon Holmes syndrome IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Cerebellar ataxia-hypogonadism syndrome PMID:25741868|PMID:25841028 10054503 CV198651 NM_003900.5(SQSTM1):c.1132A>T (p.Lys378Ter) variant DOID:0081366 Paget's disease of bone 3 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Paget disease of bone 3 PMID:16813535 10054504 CV198652 NM_003900.5(SQSTM1):c.1160C>T (p.Pro387Leu) variant DOID:0060213 C9orf72 frontotemporal dementia and/or amyotrophic lateral sclerosis IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis and/or frontotemporal dementia 1 PMID:14584883|PMID:16691492|PMID:17229008|PMID:20200946|PMID:22972638|PMID:24042580|PMID:24899140|PMID:25796131|PMID:28492532|PMID:29525180 10054504 CV198652 NM_003900.5(SQSTM1):c.1160C>T (p.Pro387Leu) variant DOID:0081365 Paget's disease of bone 2 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Paget disease of bone 2 PMID:14584883|PMID:16691492|PMID:17229008|PMID:20200946|PMID:22972638|PMID:24042580|PMID:24899140|PMID:25796131|PMID:28492532|PMID:29525180 10054504 CV198652 NM_003900.5(SQSTM1):c.1160C>T (p.Pro387Leu) variant DOID:0110068 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 PMID:14584883|PMID:16691492|PMID:17229008|PMID:20200946|PMID:22972638|PMID:24042580|PMID:24899140|PMID:25796131|PMID:28492532|PMID:29525180 10054506 CV187884 NM_001165963.4(SCN1A):c.2044_6030del variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054507 CV187885 NM_001165963.1(SCN1A):c.384_964del variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054508 CV187886 NM_001165963.1(SCN1A):c.4285_4476del variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054509 CV187887 NM_001165963.4(SCN1A):c.4338_6030del (p.Asn1446_Gly2008del) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054510 CV187888 NM_001165963.4(SCN1A):c.1663_2176del (p.Ser555Asnfs*21) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054511 CV187889 NM_001165963.4(SCN1A):c.384_1662dup variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:26096185 10054546 CV75586 NM_000165.5(GJA1):c.716G>A (p.Arg239Gln) variant DOID:0080802 autosomal recessive craniometaphyseal dysplasia IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal recessive PMID:11146471|PMID:23951358|PMID:25741868|PMID:28492532 10054546 CV75586 NM_000165.5(GJA1):c.716G>A (p.Arg239Gln) variant DOID:9004641 Oculodentodigital Dysplasia, Autosomal Recessive IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Oculodentodigital dysplasia, autosomal recessive PMID:11146471|PMID:23951358|PMID:25741868|PMID:28492532 10054547 CV199862 NM_001010867.4(IBA57):c.678A>G (p.Gln226=) variant DOID:0080135 multiple mitochondrial dysfunctions syndrome 3 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 3 PMID:25609768|PMID:25741868|PMID:39825153 10054547 CV199862 NM_001010867.4(IBA57):c.678A>G (p.Gln226=) variant DOID:0110819 hereditary spastic paraplegia 74 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 74 PMID:25609768|PMID:25741868|PMID:39825153 10054549 CV199857 NM_001034850.3(RETREG1):c.826del (p.Ser276fs) variant DOID:0070150 hereditary sensory and autonomic neuropathy type 2B IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIB PMID:24327336 10054549 CV199857 NM_001034850.3(RETREG1):c.826del (p.Ser276fs) variant DOID:0070161 hereditary sensory and autonomic neuropathy type 2 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 2 PMID:24327336 10054549 CV199857 NM_001034850.3(RETREG1):c.826del (p.Ser276fs) variant DOID:10595 Charcot-Marie-Tooth disease IAGP D RGD:8554872 20190806 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:24327336 10054550 CV199852 NM_013254.4(TBK1):c.1340+1G>A variant DOID:0110069 frontotemporal dementia and/or amyotrophic lateral sclerosis 4 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 PMID:16199547|PMID:25803835|PMID:26476236|PMID:26581300|PMID:28492532 10054551 CV199851 NM_013254.4(TBK1):c.958del (p.Thr320fs) variant DOID:0110069 frontotemporal dementia and/or amyotrophic lateral sclerosis 4 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 PMID:25803835 10054552 CV199850 NM_013254.4(TBK1):c.2138+2T>C variant DOID:0110069 frontotemporal dementia and/or amyotrophic lateral sclerosis 4 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 PMID:25803835 10054556 CV199875 NM_015425.6(POLR1A):c.3649del (p.Gln1217fs) variant DOID:0060353 acrofacial dysostosis Cincinnati type IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Acrofacial dysostosis Cincinnati type PMID:25913037|PMID:34341987 10054557 CV199878 NM_000165.5(GJA1):c.23G>T (p.Gly8Val) variant DOID:0111244 palmoplantar keratoderma and congenital alopecia 1 IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: autosomal dominant palmoplantar keratoderma and congenital alopecia PMID:25168385 10054558 CV199879 NM_000165.5(GJA1):c.681A>T (p.Glu227Asp) variant DOID:0080249 erythrokeratodermia variabilis et progressiva 3 IAGP D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 3 PMID:25398053|PMID:28492532 10054558 CV199879 NM_000165.5(GJA1):c.681A>T (p.Glu227Asp) variant DOID:9004641 Oculodentodigital Dysplasia, Autosomal Recessive IAGP D RGD:8554872 20200825 ClinVar ClinVar Annotator: match by term: Oculodentodigital dysplasia, autosomal recessive PMID:25398053|PMID:28492532 10054561 CV199877 NM_004341.5(CAD):c.6071G>A (p.Arg2024Gln) variant DOID:0080419 developmental and epileptic encephalopathy 50 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 50 PMID:25678555|PMID:28492532|PMID:32461667|PMID:32820246 10054562 CV199889 NM_003239.5(TGFB3):c.754+2T>C variant DOID:0070236 Loeys-Dietz syndrome 5 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Rienhoff syndrome PMID:25835445 10054563 CV199891 NM_003239.5(TGFB3):c.704del (p.Asn235fs) variant DOID:0070236 Loeys-Dietz syndrome 5 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Rienhoff syndrome PMID:25835445 10054564 CV199876 NM_004341.5(CAD):c.1843-1G>A variant DOID:0080419 developmental and epileptic encephalopathy 50 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 50 PMID:16199547|PMID:25678555|PMID:28007989|PMID:28492532|PMID:32117025|PMID:32820246|PMID:33497533 10054565 CV199915 NM_000417.3(IL2RA):c.301C>T (p.Gln101Ter) variant DOID:0111968 immunodeficiency 41 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Immunodeficiency due to CD25 deficiency PMID:17196245|PMID:25741868|PMID:28492532|PMID:9096364 10054566 CV199916 NM_000417.3(IL2RA):c.692dup (p.Thr232fs) variant DOID:0111968 immunodeficiency 41 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Interleukin 2 receptor, alpha, deficiency of PMID:17196245 10054569 CV140929 NM_001985.3(ETFB):c.58-212A>C variant DOID:0060358 multiple acyl-CoA dehydrogenase deficiency IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency PMID:25741868 10054572 CV140932 NM_001985.3(ETFB):c.58-96G>A variant DOID:0060358 multiple acyl-CoA dehydrogenase deficiency IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency PMID:25741868|PMID:28492532 10054573 CV141489 NM_001267550.2(TTN):c.38256G>A (p.Pro12752=) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, early-onset, with fatal cardiomyopathy PMID:25741868|PMID:28492532 10054573 CV141489 NM_001267550.2(TTN):c.38256G>A (p.Pro12752=) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2J PMID:25741868|PMID:28492532 10054573 CV141489 NM_001267550.2(TTN):c.38256G>A (p.Pro12752=) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:25741868|PMID:28492532 10054573 CV141489 NM_001267550.2(TTN):c.38256G>A (p.Pro12752=) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:25741868|PMID:28492532 10054573 CV141489 NM_001267550.2(TTN):c.38256G>A (p.Pro12752=) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:25741868|PMID:28492532 10054574 CV198038 NM_000090.3(COL3A1):c.798_799delAG variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and aortic dissections 10054575 CV170944 NM_030777.4(SLC2A10):c.692G>A (p.Arg231Gln) variant DOID:0050645 arterial tortuosity syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Arterial tortuosity syndrome PMID:17935213|PMID:19781076|PMID:23494979|PMID:28492532|PMID:29323665 10054576 CV200691 NM_004370.6(COL12A1):c.7840+1G>A variant DOID:0060948 Ullrich congenital muscular dystrophy 2 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2 PMID:24334604|PMID:28492532 10054577 CV200756 Single allele variant DOID:12849 autistic disorder IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Autism 10054578 CV200718 NM_001753.5(CAV1):c.400del (p.Ile134fs) variant DOID:9001140 Familial Partial Lipodystrophy Type 7 IAGP D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome PMID:11739396|PMID:18237401 10054584 CV187843 NM_001165963.4(SCN1A):c.1118del (p.Leu373fs) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054585 CV187743 NM_001165963.4(SCN1A):c.4351C>A (p.Pro1451Thr) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:17054684|PMID:25754450|PMID:26096185|PMID:28492532 10054585 CV187743 NM_001165963.4(SCN1A):c.4351C>A (p.Pro1451Thr) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:17054684|PMID:25754450|PMID:26096185|PMID:28492532 10054586 CV187802 NM_001165963.4(SCN1A):c.2593C>T (p.Arg865Ter) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:12083760|PMID:17347258|PMID:18076640|PMID:18930999|PMID:21868258|PMID:23195492|PMID:25741868|PMID:26096185|PMID:28492532|PMID:29852413 10054586 CV187802 NM_001165963.4(SCN1A):c.2593C>T (p.Arg865Ter) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:12083760|PMID:17347258|PMID:18076640|PMID:18930999|PMID:21868258|PMID:23195492|PMID:25741868|PMID:26096185|PMID:28492532|PMID:29852413 10054586 CV187802 NM_001165963.4(SCN1A):c.2593C>T (p.Arg865Ter) variant DOID:1826 epilepsy IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Seizures PMID:12083760|PMID:17347258|PMID:18076640|PMID:18930999|PMID:21868258|PMID:23195492|PMID:25741868|PMID:26096185|PMID:28492532|PMID:29852413 10054586 CV187802 NM_001165963.4(SCN1A):c.2593C>T (p.Arg865Ter) variant DOID:308 early myoclonic encephalopathy IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe PMID:12083760|PMID:17347258|PMID:18076640|PMID:18930999|PMID:21868258|PMID:23195492|PMID:25741868|PMID:26096185|PMID:28492532|PMID:29852413 10054587 CV187724 NM_001165963.4(SCN1A):c.5003C>G (p.Pro1668Arg) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054588 CV187745 NM_001165963.4(SCN1A):c.4302G>A (p.Trp1434Ter) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:17347258|PMID:18930999|PMID:26096185|PMID:28492532 10054588 CV187745 NM_001165963.4(SCN1A):c.4302G>A (p.Trp1434Ter) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:17347258|PMID:18930999|PMID:26096185|PMID:28492532 10054589 CV187758 NM_001165963.4(SCN1A):c.3879+1G>T variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054590 CV187828 NM_001165963.4(SCN1A):c.1624C>T (p.Arg542Ter) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:16541393|PMID:17054684|PMID:17347258|PMID:18930999|PMID:20431604|PMID:20522430|PMID:24168886|PMID:25741868|PMID:26096185|PMID:28492532 10054590 CV187828 NM_001165963.4(SCN1A):c.1624C>T (p.Arg542Ter) variant DOID:0111294 generalized epilepsy with febrile seizures plus 2 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 2 PMID:16541393|PMID:17054684|PMID:17347258|PMID:18930999|PMID:20431604|PMID:20522430|PMID:24168886|PMID:25741868|PMID:26096185|PMID:28492532 10054590 CV187828 NM_001165963.4(SCN1A):c.1624C>T (p.Arg542Ter) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:16541393|PMID:17054684|PMID:17347258|PMID:18930999|PMID:20431604|PMID:20522430|PMID:24168886|PMID:25741868|PMID:26096185|PMID:28492532 10054590 CV187828 NM_001165963.4(SCN1A):c.1624C>T (p.Arg542Ter) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16541393|PMID:17054684|PMID:17347258|PMID:18930999|PMID:20431604|PMID:20522430|PMID:24168886|PMID:25741868|PMID:26096185|PMID:28492532 10054591 CV187732 NM_001165963.4(SCN1A):c.4879_4883dup (p.Tyr1628Ter) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054592 CV187716 NM_001165963.4(SCN1A):c.5250_5251insGG (p.Ser1751fs) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054593 CV187715 NM_001165963.4(SCN1A):c.5250_5252del (p.Ser1750_Ser1751delinsArg) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054594 CV187824 NM_001165963.4(SCN1A):c.1667del (p.Leu556fs) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054595 CV187746 NM_001165963.4(SCN1A):c.4244_4245del (p.Asn1414_Phe1415insTer) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:17347258|PMID:18930999|PMID:20431604|PMID:26096185|PMID:28492532 10054595 CV187746 NM_001165963.4(SCN1A):c.4244_4245del (p.Asn1414_Phe1415insTer) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:17347258|PMID:18930999|PMID:20431604|PMID:26096185|PMID:28492532 10054596 CV187767 NM_001165963.4(SCN1A):c.3726_3727insAT (p.Asp1243fs) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054597 CV187750 NM_001165963.4(SCN1A):c.4088T>A (p.Ile1363Asn) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:26096185 10054598 CV187790 NM_001165963.4(SCN1A):c.2879T>G (p.Met960Arg) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054599 CV187705 NM_001165963.4(SCN1A):c.5536A>T (p.Lys1846Ter) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054600 CV187763 NM_001165963.4(SCN1A):c.3802_3812del (p.Leu1268fs) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054601 CV187772 NM_001165963.4(SCN1A):c.3637C>T (p.Arg1213Ter) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:12566275|PMID:17347258|PMID:18930999|PMID:23195492|PMID:23934111|PMID:24168886|PMID:25741868|PMID:26096185|PMID:26232052|PMID:26467025|PMID:28492532|PMID:29186148 10054601 CV187772 NM_001165963.4(SCN1A):c.3637C>T (p.Arg1213Ter) variant DOID:0111183 familial hemiplegic migraine 3 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Migraine, familial hemiplegic, 3 PMID:12566275|PMID:17347258|PMID:18930999|PMID:23195492|PMID:23934111|PMID:24168886|PMID:25741868|PMID:26096185|PMID:26232052|PMID:26467025|PMID:28492532|PMID:29186148 10054601 CV187772 NM_001165963.4(SCN1A):c.3637C>T (p.Arg1213Ter) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:12566275|PMID:17347258|PMID:18930999|PMID:23195492|PMID:23934111|PMID:24168886|PMID:25741868|PMID:26096185|PMID:26232052|PMID:26467025|PMID:28492532|PMID:29186148 10054601 CV187772 NM_001165963.4(SCN1A):c.3637C>T (p.Arg1213Ter) variant DOID:1826 epilepsy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:12566275|PMID:17347258|PMID:18930999|PMID:23195492|PMID:23934111|PMID:24168886|PMID:25741868|PMID:26096185|PMID:26232052|PMID:26467025|PMID:28492532|PMID:29186148 10054601 CV187772 NM_001165963.4(SCN1A):c.3637C>T (p.Arg1213Ter) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12566275|PMID:17347258|PMID:18930999|PMID:23195492|PMID:23934111|PMID:24168886|PMID:25741868|PMID:26096185|PMID:26232052|PMID:26467025|PMID:28492532|PMID:29186148 10054602 CV187876 NM_001165963.4(SCN1A):c.337C>A (p.Pro113Thr) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:26096185|PMID:28492532 10054602 CV187876 NM_001165963.4(SCN1A):c.337C>A (p.Pro113Thr) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:26096185|PMID:28492532 10054603 CV187804 NM_001165963.4(SCN1A):c.2588T>G (p.Leu863Trp) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054604 CV187845 NM_001165963.4(SCN1A):c.1076A>G (p.Asn359Ser) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:21248271|PMID:23708187|PMID:23808377|PMID:25741868|PMID:26096185|PMID:28492532|PMID:29056246|PMID:29142202|PMID:34816733|PMID:35074891|PMID:38891831 10054604 CV187845 NM_001165963.4(SCN1A):c.1076A>G (p.Asn359Ser) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:21248271|PMID:23708187|PMID:23808377|PMID:25741868|PMID:26096185|PMID:28492532|PMID:29056246|PMID:29142202|PMID:34816733|PMID:35074891|PMID:38891831 10054604 CV187845 NM_001165963.4(SCN1A):c.1076A>G (p.Asn359Ser) variant DOID:630 genetic disease IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:21248271|PMID:23708187|PMID:23808377|PMID:25741868|PMID:26096185|PMID:28492532|PMID:29056246|PMID:29142202|PMID:34816733|PMID:35074891|PMID:38891831 10054605 CV187784 NM_001165963.4(SCN1A):c.2946+1_2946+2del variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054606 CV187786 NM_001165963.4(SCN1A):c.2947del variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054607 CV187792 NM_001165963.4(SCN1A):c.2876G>A (p.Cys959Tyr) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:23934111|PMID:25741868|PMID:26096185 10054608 CV187827 NM_001165963.4(SCN1A):c.1660dup (p.Gln554fs) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054609 CV187795 NM_001165963.4(SCN1A):c.2792G>A (p.Arg931His) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:12083760|PMID:18076640|PMID:21248271|PMID:21719429|PMID:22780858|PMID:25243660|PMID:25741868|PMID:26096185|PMID:26467025|PMID:27231140|PMID:28079314|PMID:28492532 10054609 CV187795 NM_001165963.4(SCN1A):c.2792G>A (p.Arg931His) variant DOID:0111183 familial hemiplegic migraine 3 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Migraine, familial hemiplegic, 3 PMID:12083760|PMID:18076640|PMID:21248271|PMID:21719429|PMID:22780858|PMID:25243660|PMID:25741868|PMID:26096185|PMID:26467025|PMID:27231140|PMID:28079314|PMID:28492532 10054609 CV187795 NM_001165963.4(SCN1A):c.2792G>A (p.Arg931His) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:12083760|PMID:18076640|PMID:21248271|PMID:21719429|PMID:22780858|PMID:25243660|PMID:25741868|PMID:26096185|PMID:26467025|PMID:27231140|PMID:28079314|PMID:28492532 10054610 CV187731 NM_001165963.4(SCN1A):c.4906C>T (p.Arg1636Ter) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:17054684|PMID:18930999|PMID:21248271|PMID:21868258|PMID:25741868|PMID:26096185|PMID:26467025|PMID:28202706|PMID:28492532|PMID:30034362 10054610 CV187731 NM_001165963.4(SCN1A):c.4906C>T (p.Arg1636Ter) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:17054684|PMID:18930999|PMID:21248271|PMID:21868258|PMID:25741868|PMID:26096185|PMID:26467025|PMID:28202706|PMID:28492532|PMID:30034362 10054611 CV187864 NM_001165963.4(SCN1A):c.675G>C (p.Lys225Asn) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054612 CV187846 NM_001165963.4(SCN1A):c.1072C>T (p.Pro358Ser) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20231010 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:25741868|PMID:26096185 10054613 CV187773 NM_001165963.4(SCN1A):c.3615G>A (p.Trp1205Ter) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:11254445|PMID:24168886|PMID:26096185 10054613 CV187773 NM_001165963.4(SCN1A):c.3615G>A (p.Trp1205Ter) variant DOID:630 genetic disease IAGP D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:11254445|PMID:24168886|PMID:26096185 10054614 CV187797 NM_001165963.4(SCN1A):c.2728C>A (p.Gln910Lys) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054615 CV187868 NM_001165963.4(SCN1A):c.474_602del (p.Thr160_Tyr202del) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054616 CV187714 NM_001165963.4(SCN1A):c.5264A>G (p.Asp1755Gly) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054618 CV187865 NM_001165963.4(SCN1A):c.659_662del (p.Val220fs) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054619 CV187764 NM_001165963.4(SCN1A):c.3763G>C (p.Ala1255Pro) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054620 CV187835 NM_001165963.4(SCN1A):c.1199T>A (p.Met400Lys) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054622 CV187793 NM_001165963.4(SCN1A):c.2837G>C (p.Arg946Pro) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054623 CV187766 NM_001165963.4(SCN1A):c.3730C>T (p.Gln1244Ter) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:24168886|PMID:25741868|PMID:26096185 10054624 CV187777 NM_001165963.4(SCN1A):c.3455C>A (p.Ser1152Ter) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054625 CV187776 NM_001165963.4(SCN1A):c.3477del (p.Ile1159fs) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054626 CV187760 NM_001165963.4(SCN1A):c.3828T>A (p.Tyr1276Ter) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054627 CV187841 NM_001165963.4(SCN1A):c.1136T>A (p.Met379Lys) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054628 CV187778 NM_001165963.4(SCN1A):c.3439G>T (p.Glu1147Ter) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:17347258|PMID:18930999|PMID:26096185|PMID:27465585|PMID:28492532 10054628 CV187778 NM_001165963.4(SCN1A):c.3439G>T (p.Glu1147Ter) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:17347258|PMID:18930999|PMID:26096185|PMID:27465585|PMID:28492532 10054629 CV187744 NM_001165963.4(SCN1A):c.4338+4A>C variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054630 CV187769 NM_001165963.4(SCN1A):c.3705+2T>A variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054631 CV187823 NM_001165963.4(SCN1A):c.1738C>T (p.Arg580Ter) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:17347258|PMID:18930999|PMID:20110217|PMID:20522430|PMID:24502503|PMID:25206388|PMID:25741868|PMID:26096185|PMID:28492532 10054631 CV187823 NM_001165963.4(SCN1A):c.1738C>T (p.Arg580Ter) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:17347258|PMID:18930999|PMID:20110217|PMID:20522430|PMID:24502503|PMID:25206388|PMID:25741868|PMID:26096185|PMID:28492532 10054631 CV187823 NM_001165963.4(SCN1A):c.1738C>T (p.Arg580Ter) variant DOID:308 early myoclonic encephalopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe PMID:17347258|PMID:18930999|PMID:20110217|PMID:20522430|PMID:24502503|PMID:25206388|PMID:25741868|PMID:26096185|PMID:28492532 10054632 CV187700 NM_001165963.4(SCN1A):c.5780G>C (p.Arg1927Thr) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054633 CV187882 NM_001165963.4(SCN1A):c.121A>T (p.Lys41Ter) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054634 CV187807 NM_001165963.4(SCN1A):c.2523_2524del (p.Thr841_Leu842insTer) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054635 CV187701 NM_001165963.4(SCN1A):c.5674C>T (p.Arg1892Ter) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:11940708|PMID:17054684|PMID:19563349|PMID:25741868|PMID:26096185|PMID:27465585|PMID:28492532 10054635 CV187701 NM_001165963.4(SCN1A):c.5674C>T (p.Arg1892Ter) variant DOID:0111183 familial hemiplegic migraine 3 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Migraine, familial hemiplegic, 3 PMID:11940708|PMID:17054684|PMID:19563349|PMID:25741868|PMID:26096185|PMID:27465585|PMID:28492532 10054635 CV187701 NM_001165963.4(SCN1A):c.5674C>T (p.Arg1892Ter) variant DOID:0111294 generalized epilepsy with febrile seizures plus 2 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 2 PMID:11940708|PMID:17054684|PMID:19563349|PMID:25741868|PMID:26096185|PMID:27465585|PMID:28492532 10054635 CV187701 NM_001165963.4(SCN1A):c.5674C>T (p.Arg1892Ter) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11940708|PMID:17054684|PMID:19563349|PMID:25741868|PMID:26096185|PMID:27465585|PMID:28492532 10054636 CV187722 NM_001165963.4(SCN1A):c.5014A>C (p.Asn1672His) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054637 CV187710 NM_001165963.4(SCN1A):c.5349_5352dup (p.Ile1785fs) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054638 CV187878 NM_001165963.4(SCN1A):c.308G>T (p.Ser103Ile) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054639 CV187814 NM_001165963.4(SCN1A):c.2213G>T (p.Trp738Leu) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054640 CV187813 NM_001165963.4(SCN1A):c.2261G>T (p.Trp754Leu) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054641 CV187770 NM_001165963.4(SCN1A):c.3705+1G>A variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:14504318|PMID:16199547|PMID:17347258|PMID:18930999|PMID:23808377|PMID:25741868|PMID:26096185|PMID:28492532 10054641 CV187770 NM_001165963.4(SCN1A):c.3705+1G>A variant DOID:0111294 generalized epilepsy with febrile seizures plus 2 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 2 PMID:14504318|PMID:16199547|PMID:17347258|PMID:18930999|PMID:23808377|PMID:25741868|PMID:26096185|PMID:28492532 10054641 CV187770 NM_001165963.4(SCN1A):c.3705+1G>A variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:14504318|PMID:16199547|PMID:17347258|PMID:18930999|PMID:23808377|PMID:25741868|PMID:26096185|PMID:28492532 10054642 CV187748 NM_001165963.4(SCN1A):c.4188C>A (p.Cys1396Ter) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054643 CV187869 NM_001165963.4(SCN1A):c.530G>T (p.Gly177Val) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054644 CV187782 NM_001165963.4(SCN1A):c.2985T>G (p.Phe995Leu) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054645 CV187819 NM_001165963.4(SCN1A):c.2071A>T (p.Lys691Ter) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054646 CV187720 NM_001165963.4(SCN1A):c.5082T>G (p.Tyr1694Ter) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054647 CV187826 NM_001165963.4(SCN1A):c.1662+1G>T variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054648 CV187812 NM_001165963.4(SCN1A):c.2299_2302dup (p.Pro768fs) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054649 CV187861 NM_001165963.4(SCN1A):c.751del (p.Val250_Met251insTer) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054650 CV187738 NM_001165963.4(SCN1A):c.4573C>T (p.Arg1525Ter) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:16458823|PMID:17347258|PMID:18930999|PMID:19522081|PMID:20879882|PMID:21248271|PMID:23195492|PMID:25741868|PMID:26096185|PMID:26467025|PMID:27465585|PMID:28079314|PMID:28492532|PMID:28837158|PMID:29981888|PMID:31031587|PMID:32090326|PMID:35074891 10054650 CV187738 NM_001165963.4(SCN1A):c.4573C>T (p.Arg1525Ter) variant DOID:0111183 familial hemiplegic migraine 3 IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Migraine, familial hemiplegic, 3 PMID:16458823|PMID:17347258|PMID:18930999|PMID:19522081|PMID:20879882|PMID:21248271|PMID:23195492|PMID:25741868|PMID:26096185|PMID:26467025|PMID:27465585|PMID:28079314|PMID:28492532|PMID:28837158|PMID:29981888|PMID:31031587|PMID:32090326|PMID:35074891 10054650 CV187738 NM_001165963.4(SCN1A):c.4573C>T (p.Arg1525Ter) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:16458823|PMID:17347258|PMID:18930999|PMID:19522081|PMID:20879882|PMID:21248271|PMID:23195492|PMID:25741868|PMID:26096185|PMID:26467025|PMID:27465585|PMID:28079314|PMID:28492532|PMID:28837158|PMID:29981888|PMID:31031587|PMID:32090326|PMID:35074891 10054651 CV187703 NM_001165963.4(SCN1A):c.5656C>T (p.Arg1886Ter) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:17054684|PMID:17347258|PMID:18930999|PMID:22409937|PMID:25741868|PMID:26096185|PMID:26467025|PMID:28492532|PMID:30368457 10054651 CV187703 NM_001165963.4(SCN1A):c.5656C>T (p.Arg1886Ter) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:17054684|PMID:17347258|PMID:18930999|PMID:22409937|PMID:25741868|PMID:26096185|PMID:26467025|PMID:28492532|PMID:30368457 10054652 CV187840 NM_001165963.4(SCN1A):c.1146C>A (p.Asp382Glu) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:21248271|PMID:26096185|PMID:28492532 10054652 CV187840 NM_001165963.4(SCN1A):c.1146C>A (p.Asp382Glu) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:21248271|PMID:26096185|PMID:28492532 10054653 CV187723 NM_001165963.4(SCN1A):c.5010_5013del (p.Phe1671fs) variant DOID:0070379 developmental and epileptic encephalopathy 6B IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 6B, non-Dravet PMID:11359211|PMID:14504318|PMID:17054684|PMID:18930999|PMID:21719429|PMID:25741868|PMID:26096185|PMID:26993267|PMID:28492532|PMID:32581362 10054653 CV187723 NM_001165963.4(SCN1A):c.5010_5013del (p.Phe1671fs) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:11359211|PMID:14504318|PMID:17054684|PMID:18930999|PMID:21719429|PMID:25741868|PMID:26096185|PMID:26993267|PMID:28492532|PMID:32581362 10054653 CV187723 NM_001165963.4(SCN1A):c.5010_5013del (p.Phe1671fs) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:11359211|PMID:14504318|PMID:17054684|PMID:18930999|PMID:21719429|PMID:25741868|PMID:26096185|PMID:26993267|PMID:28492532|PMID:32581362 10054653 CV187723 NM_001165963.4(SCN1A):c.5010_5013del (p.Phe1671fs) variant DOID:1827 generalized epilepsy IAGP D RGD:8554872 20211012 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy PMID:11359211|PMID:14504318|PMID:17054684|PMID:18930999|PMID:21719429|PMID:25741868|PMID:26096185|PMID:26993267|PMID:28492532|PMID:32581362 10054654 CV187863 NM_001165963.4(SCN1A):c.728C>A (p.Ser243Tyr) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054655 CV187780 NM_001165963.4(SCN1A):c.3062_3066del (p.Lys1021fs) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054656 CV187809 NM_001165963.4(SCN1A):c.2353A>G (p.Met785Val) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:25741868|PMID:26096185|PMID:28492532 10054656 CV187809 NM_001165963.4(SCN1A):c.2353A>G (p.Met785Val) variant DOID:0111294 generalized epilepsy with febrile seizures plus 2 IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 2 PMID:25741868|PMID:26096185|PMID:28492532 10054656 CV187809 NM_001165963.4(SCN1A):c.2353A>G (p.Met785Val) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:25741868|PMID:26096185|PMID:28492532 10054657 CV187737 NM_001165963.4(SCN1A):c.4611_4645dup (p.Ile1549delinsThrTer) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054658 CV187725 NM_001165963.4(SCN1A):c.5003del (p.Pro1668fs) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054659 CV187833 NM_001165963.4(SCN1A):c.1265T>C (p.Val422Ala) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054660 CV187730 NM_001165963.4(SCN1A):c.4933C>T (p.Arg1645Ter) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:14738421|PMID:19809937|PMID:25741868|PMID:26096185|PMID:27465585|PMID:28492532|PMID:29141279 10054660 CV187730 NM_001165963.4(SCN1A):c.4933C>T (p.Arg1645Ter) variant DOID:0111183 familial hemiplegic migraine 3 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hemiplegic migraine type 3 PMID:14738421|PMID:19809937|PMID:25741868|PMID:26096185|PMID:27465585|PMID:28492532|PMID:29141279 10054660 CV187730 NM_001165963.4(SCN1A):c.4933C>T (p.Arg1645Ter) variant DOID:0111294 generalized epilepsy with febrile seizures plus 2 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 2 PMID:14738421|PMID:19809937|PMID:25741868|PMID:26096185|PMID:27465585|PMID:28492532|PMID:29141279 10054660 CV187730 NM_001165963.4(SCN1A):c.4933C>T (p.Arg1645Ter) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:14738421|PMID:19809937|PMID:25741868|PMID:26096185|PMID:27465585|PMID:28492532|PMID:29141279 10054661 CV187726 NM_001165963.4(SCN1A):c.4997C>T (p.Ser1666Phe) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:25741868|PMID:26096185|PMID:28492532|PMID:31780880|PMID:9573403 10054661 CV187726 NM_001165963.4(SCN1A):c.4997C>T (p.Ser1666Phe) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:25741868|PMID:26096185|PMID:28492532|PMID:31780880|PMID:9573403 10054662 CV187741 NM_001165963.4(SCN1A):c.4547C>G (p.Ser1516Trp) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054663 CV187798 NM_001165963.4(SCN1A):c.2690T>C (p.Leu897Ser) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:26096185|PMID:28492532 10054663 CV187798 NM_001165963.4(SCN1A):c.2690T>C (p.Leu897Ser) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:26096185|PMID:28492532 10054664 CV187880 NM_001165963.4(SCN1A):c.264+5G>C variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:17054684|PMID:17576681|PMID:25669891|PMID:26096185|PMID:28492532|PMID:9536098 10054664 CV187880 NM_001165963.4(SCN1A):c.264+5G>C variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:17054684|PMID:17576681|PMID:25669891|PMID:26096185|PMID:28492532|PMID:9536098 10054665 CV187717 NM_001165963.4(SCN1A):c.5222G>A (p.Cys1741Tyr) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:23934111|PMID:26096185|PMID:28492532|PMID:29655203 10054665 CV187717 NM_001165963.4(SCN1A):c.5222G>A (p.Cys1741Tyr) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:23934111|PMID:26096185|PMID:28492532|PMID:29655203 10054666 CV187873 NM_001165963.4(SCN1A):c.384-1C>G variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054667 CV187839 NM_001165963.4(SCN1A):c.1170+1G>T variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054668 CV187811 NM_001165963.4(SCN1A):c.2303C>T (p.Pro768Leu) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:19350499|PMID:20431604|PMID:24136861|PMID:26096185|PMID:26467025|PMID:28492532|PMID:28864458|PMID:30921204|PMID:32845893|PMID:35074891 10054668 CV187811 NM_001165963.4(SCN1A):c.2303C>T (p.Pro768Leu) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:19350499|PMID:20431604|PMID:24136861|PMID:26096185|PMID:26467025|PMID:28492532|PMID:28864458|PMID:30921204|PMID:32845893|PMID:35074891 10054670 CV187848 NM_001165963.4(SCN1A):c.1048A>G (p.Met350Val) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054671 CV187707 NM_001165963.4(SCN1A):c.5470G>T (p.Glu1824Ter) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054672 CV187768 NM_001165963.4(SCN1A):c.3706G>C (p.Ala1236Pro) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:25741868|PMID:26096185 10054672 CV187768 NM_001165963.4(SCN1A):c.3706G>C (p.Ala1236Pro) variant DOID:1059 intellectual disability IAGP D RGD:8554872 20201015 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:26096185 10054673 CV187860 NM_001165963.4(SCN1A):c.769T>C (p.Cys257Arg) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054674 CV187785 NM_001165963.4(SCN1A):c.2946+1G>T variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:17347258|PMID:25590135|PMID:26096185|PMID:28492532 10054674 CV187785 NM_001165963.4(SCN1A):c.2946+1G>T variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:17347258|PMID:25590135|PMID:26096185|PMID:28492532 10054675 CV187825 NM_001165963.4(SCN1A):c.1662+3A>G variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:17576681|PMID:19350499|PMID:26096185|PMID:28492532|PMID:9536098 10054675 CV187825 NM_001165963.4(SCN1A):c.1662+3A>G variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:17576681|PMID:19350499|PMID:26096185|PMID:28492532|PMID:9536098 10054676 CV187775 NM_001165963.4(SCN1A):c.3487del (p.Pro1162_Val1163insTer) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054677 CV187803 NM_001165963.4(SCN1A):c.2589+3A>T variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:17347258|PMID:17576681|PMID:20431604|PMID:23195492|PMID:23821540|PMID:25741868|PMID:26096185|PMID:26467025|PMID:28492532|PMID:31864146|PMID:33067208|PMID:33278787|PMID:9536098 10054677 CV187803 NM_001165963.4(SCN1A):c.2589+3A>T variant DOID:0111183 familial hemiplegic migraine 3 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Migraine, familial hemiplegic, 3 PMID:17347258|PMID:17576681|PMID:20431604|PMID:23195492|PMID:23821540|PMID:25741868|PMID:26096185|PMID:26467025|PMID:28492532|PMID:31864146|PMID:33067208|PMID:33278787|PMID:9536098 10054677 CV187803 NM_001165963.4(SCN1A):c.2589+3A>T variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:17347258|PMID:17576681|PMID:20431604|PMID:23195492|PMID:23821540|PMID:25741868|PMID:26096185|PMID:26467025|PMID:28492532|PMID:31864146|PMID:33067208|PMID:33278787|PMID:9536098 10054678 CV187837 NM_001165963.4(SCN1A):c.1183_1184del (p.Ala395fs) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054679 CV187838 NM_001165963.4(SCN1A):c.1182_1183insA (p.Ala395fs) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054680 CV187821 NM_001165963.4(SCN1A):c.1834C>T (p.Arg612Ter) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:17347258|PMID:18554359|PMID:18930999|PMID:20431604|PMID:25741868|PMID:26096185|PMID:28492532 10054680 CV187821 NM_001165963.4(SCN1A):c.1834C>T (p.Arg612Ter) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:17347258|PMID:18554359|PMID:18930999|PMID:20431604|PMID:25741868|PMID:26096185|PMID:28492532 10054681 CV187751 NM_001165963.4(SCN1A):c.4086C>G (p.Ser1362Arg) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:26096185|PMID:28492532 10054681 CV187751 NM_001165963.4(SCN1A):c.4086C>G (p.Ser1362Arg) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:26096185|PMID:28492532 10054682 CV187709 NM_001165963.4(SCN1A):c.5404G>T (p.Glu1802Ter) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054683 CV187708 NM_001165963.4(SCN1A):c.5461C>T (p.Gln1821Ter) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054684 CV187850 NM_001165963.4(SCN1A):c.1033T>C (p.Cys345Arg) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:18930999|PMID:26096185|PMID:28492532 10054684 CV187850 NM_001165963.4(SCN1A):c.1033T>C (p.Cys345Arg) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18930999|PMID:26096185|PMID:28492532 10054685 CV187711 NM_001165963.4(SCN1A):c.5334del (p.Asn1779fs) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054686 CV187747 NM_001165963.4(SCN1A):c.4223G>A (p.Trp1408Ter) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:12566275|PMID:17347258|PMID:18930999|PMID:25741868|PMID:26096185|PMID:28492532 10054686 CV187747 NM_001165963.4(SCN1A):c.4223G>A (p.Trp1408Ter) variant DOID:0111294 generalized epilepsy with febrile seizures plus 2 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 2 PMID:12566275|PMID:17347258|PMID:18930999|PMID:25741868|PMID:26096185|PMID:28492532 10054686 CV187747 NM_001165963.4(SCN1A):c.4223G>A (p.Trp1408Ter) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:12566275|PMID:17347258|PMID:18930999|PMID:25741868|PMID:26096185|PMID:28492532 10054687 CV187734 NM_001165963.4(SCN1A):c.4823del (p.Asp1608fs) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054688 CV187800 NM_001165963.4(SCN1A):c.2615C>A (p.Ser872Tyr) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054689 CV187801 NM_001165963.4(SCN1A):c.2603del (p.Lys868fs) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054690 CV187857 NM_001165963.4(SCN1A):c.896_905del (p.Asn299fs) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054691 CV187754 NM_001165963.4(SCN1A):c.4016C>T (p.Ala1339Val) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054692 CV187829 NM_001165963.4(SCN1A):c.1516C>T (p.Gln506Ter) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:17347258|PMID:18930999|PMID:25741868|PMID:26096185|PMID:28492532 10054692 CV187829 NM_001165963.4(SCN1A):c.1516C>T (p.Gln506Ter) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:17347258|PMID:18930999|PMID:25741868|PMID:26096185|PMID:28492532 10054693 CV187881 NM_001165963.4(SCN1A):c.185del (p.Pro62fs) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054694 CV187844 NM_001165963.4(SCN1A):c.1096_1115del (p.Asp366fs) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054695 CV187877 NM_001165963.4(SCN1A):c.323T>C (p.Leu108Pro) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054696 CV187806 NM_001165963.4(SCN1A):c.2537A>G (p.Glu846Gly) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054697 CV187816 NM_001165963.4(SCN1A):c.2176+3T>A variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054698 CV187879 NM_001165963.4(SCN1A):c.289_292del (p.Lys97fs) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054699 CV187851 NM_001165963.4(SCN1A):c.1025C>T (p.Ala342Val) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054700 CV187794 NM_001165963.4(SCN1A):c.2792G>C (p.Arg931Pro) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:12083760|PMID:18076640|PMID:22780858|PMID:25243660|PMID:26096185|PMID:27231140|PMID:28079314|PMID:28492532 10054700 CV187794 NM_001165963.4(SCN1A):c.2792G>C (p.Arg931Pro) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:12083760|PMID:18076640|PMID:22780858|PMID:25243660|PMID:26096185|PMID:27231140|PMID:28079314|PMID:28492532 10054701 CV187853 NM_001165963.4(SCN1A):c.1007G>A (p.Cys336Tyr) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:26096185|PMID:28079314|PMID:28492532 10054701 CV187853 NM_001165963.4(SCN1A):c.1007G>A (p.Cys336Tyr) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:26096185|PMID:28079314|PMID:28492532 10054702 CV187842 NM_001165963.4(SCN1A):c.1129C>T (p.Arg377Ter) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:17054684|PMID:17347258|PMID:18930999|PMID:23808377|PMID:25741868|PMID:26096185|PMID:27465585|PMID:28492532 10054702 CV187842 NM_001165963.4(SCN1A):c.1129C>T (p.Arg377Ter) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:17054684|PMID:17347258|PMID:18930999|PMID:23808377|PMID:25741868|PMID:26096185|PMID:27465585|PMID:28492532 10054702 CV187842 NM_001165963.4(SCN1A):c.1129C>T (p.Arg377Ter) variant DOID:1826 epilepsy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Seizure PMID:17054684|PMID:17347258|PMID:18930999|PMID:23808377|PMID:25741868|PMID:26096185|PMID:27465585|PMID:28492532 10054703 CV187735 NM_001165963.4(SCN1A):c.4811G>A (p.Trp1604Ter) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:17054684|PMID:17347258|PMID:18930999|PMID:22409937|PMID:26096185|PMID:28492532 10054703 CV187735 NM_001165963.4(SCN1A):c.4811G>A (p.Trp1604Ter) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:17054684|PMID:17347258|PMID:18930999|PMID:22409937|PMID:26096185|PMID:28492532 10054704 CV187706 NM_001165963.4(SCN1A):c.5515C>G (p.Leu1839Val) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:25741868|PMID:26096185|PMID:35886038 10054705 CV187718 NM_001165963.4(SCN1A):c.5108A>T (p.Asp1703Val) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054706 CV187874 NM_001165963.4(SCN1A):c.383+1A>G variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:17576681|PMID:18930999|PMID:19782004|PMID:23884151|PMID:24168886|PMID:26096185|PMID:28492532|PMID:9536098 10054706 CV187874 NM_001165963.4(SCN1A):c.383+1A>G variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:17576681|PMID:18930999|PMID:19782004|PMID:23884151|PMID:24168886|PMID:26096185|PMID:28492532|PMID:9536098 10054706 CV187874 NM_001165963.4(SCN1A):c.383+1A>G variant DOID:630 genetic disease IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:17576681|PMID:18930999|PMID:19782004|PMID:23884151|PMID:24168886|PMID:26096185|PMID:28492532|PMID:9536098 10054707 CV187756 NM_001165963.4(SCN1A):c.3899C>G (p.Thr1300Arg) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:26096185|PMID:28492532 10054707 CV187756 NM_001165963.4(SCN1A):c.3899C>G (p.Thr1300Arg) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:26096185|PMID:28492532 10054708 CV187815 NM_001165963.4(SCN1A):c.2213G>A (p.Trp738Ter) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:17347258|PMID:18930999|PMID:26096185|PMID:28492532|PMID:34379890 10054708 CV187815 NM_001165963.4(SCN1A):c.2213G>A (p.Trp738Ter) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:17347258|PMID:18930999|PMID:26096185|PMID:28492532|PMID:34379890 10054709 CV187719 NM_001165963.4(SCN1A):c.5106T>A (p.Asp1702Glu) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054710 CV187808 NM_001165963.4(SCN1A):c.2479T>G (p.Tyr827Asp) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054711 CV187818 NM_001165963.4(SCN1A):c.2100del (p.Met701fs) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054712 CV187831 NM_001165963.4(SCN1A):c.1345G>T (p.Glu449Ter) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054713 CV187791 NM_001165963.4(SCN1A):c.2872_2881del (p.Asp958fs) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054714 CV187779 NM_001165963.4(SCN1A):c.3106C>T (p.Gln1036Ter) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:17347258|PMID:18930999|PMID:21868258|PMID:26096185|PMID:28492532 10054714 CV187779 NM_001165963.4(SCN1A):c.3106C>T (p.Gln1036Ter) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:17347258|PMID:18930999|PMID:21868258|PMID:26096185|PMID:28492532 10054715 CV187742 NM_001165963.4(SCN1A):c.4412C>T (p.Ser1471Phe) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:25741868|PMID:26096185|PMID:28492532 10054715 CV187742 NM_001165963.4(SCN1A):c.4412C>T (p.Ser1471Phe) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:25741868|PMID:26096185|PMID:28492532 10054716 CV187832 NM_001165963.4(SCN1A):c.1301del (p.Leu434fs) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054717 CV187796 NM_001165963.4(SCN1A):c.2780G>T (p.Cys927Phe) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:18930999|PMID:25741868|PMID:26096185|PMID:28492532|PMID:29573403|PMID:32090326 10054717 CV187796 NM_001165963.4(SCN1A):c.2780G>T (p.Cys927Phe) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:18930999|PMID:25741868|PMID:26096185|PMID:28492532|PMID:29573403|PMID:32090326 10054717 CV187796 NM_001165963.4(SCN1A):c.2780G>T (p.Cys927Phe) variant DOID:308 early myoclonic encephalopathy IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe PMID:18930999|PMID:25741868|PMID:26096185|PMID:28492532|PMID:29573403|PMID:32090326 10054718 CV187859 NM_001165963.4(SCN1A):c.825_826insGTATA (p.Lys276delinsValTer) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054719 CV187781 NM_001165963.4(SCN1A):c.3017del (p.Asp1006fs) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054720 CV187862 NM_001165963.4(SCN1A):c.747T>G (p.Asp249Glu) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:26096185|PMID:32581296 10054721 CV187713 NM_001165963.4(SCN1A):c.5284_5291dup (p.Phe1764fs) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054722 CV187799 NM_001165963.4(SCN1A):c.2678T>A (p.Leu893Ter) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054723 CV187757 NM_001165963.4(SCN1A):c.3880-2A>G variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:17347258|PMID:18930999|PMID:26096185|PMID:28492532 10054723 CV187757 NM_001165963.4(SCN1A):c.3880-2A>G variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20210309 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:17347258|PMID:18930999|PMID:26096185|PMID:28492532 10054724 CV187765 NM_001165963.4(SCN1A):c.3757G>T (p.Glu1253Ter) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054725 CV187836 NM_001165963.4(SCN1A):c.1197_1198del (p.Met400fs) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054726 CV187727 NM_001165963.4(SCN1A):c.4993_4996dup (p.Ser1666fs) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054727 CV187810 NM_001165963.4(SCN1A):c.2318_2319insT (p.Ile774fs) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054728 CV187752 NM_001165963.4(SCN1A):c.4055T>C (p.Leu1352Pro) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:25741868|PMID:26096185|PMID:28488083|PMID:28492532|PMID:29930392|PMID:31618474 10054728 CV187752 NM_001165963.4(SCN1A):c.4055T>C (p.Leu1352Pro) variant DOID:0111294 generalized epilepsy with febrile seizures plus 2 IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 2 PMID:25741868|PMID:26096185|PMID:28488083|PMID:28492532|PMID:29930392|PMID:31618474 10054728 CV187752 NM_001165963.4(SCN1A):c.4055T>C (p.Leu1352Pro) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:25741868|PMID:26096185|PMID:28488083|PMID:28492532|PMID:29930392|PMID:31618474 10054729 CV187753 NM_001165963.4(SCN1A):c.4044G>A (p.Met1348Ile) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054730 CV187789 NM_001165963.4(SCN1A):c.2903G>T (p.Cys968Phe) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054731 CV187854 NM_001165963.4(SCN1A):c.965-1G>A variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:16199547|PMID:17347258|PMID:18930999|PMID:25741868|PMID:26096185|PMID:28492532 10054731 CV187854 NM_001165963.4(SCN1A):c.965-1G>A variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:16199547|PMID:17347258|PMID:18930999|PMID:25741868|PMID:26096185|PMID:28492532 10054731 CV187854 NM_001165963.4(SCN1A):c.965-1G>A variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16199547|PMID:17347258|PMID:18930999|PMID:25741868|PMID:26096185|PMID:28492532 10054732 CV187739 NM_001165963.4(SCN1A):c.4554del (p.Lys1518fs) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:17347258|PMID:18930999|PMID:26096185|PMID:28492532 10054732 CV187739 NM_001165963.4(SCN1A):c.4554del (p.Lys1518fs) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:17347258|PMID:18930999|PMID:26096185|PMID:28492532 10054733 CV187834 NM_001165963.4(SCN1A):c.1259C>T (p.Ala420Val) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:22944210|PMID:26096185|PMID:28492532 10054733 CV187834 NM_001165963.4(SCN1A):c.1259C>T (p.Ala420Val) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:22944210|PMID:26096185|PMID:28492532 10054734 CV187867 NM_001165963.4(SCN1A):c.602+1G>T variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:16199547|PMID:17347258|PMID:18930999|PMID:26096185|PMID:28492532 10054734 CV187867 NM_001165963.4(SCN1A):c.602+1G>T variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:16199547|PMID:17347258|PMID:18930999|PMID:26096185|PMID:28492532 10054735 CV187736 NM_001165963.4(SCN1A):c.4766T>G (p.Val1589Gly) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054736 CV187788 NM_001165963.4(SCN1A):c.2929G>A (p.Val977Met) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054737 CV187830 NM_001165963.4(SCN1A):c.1442_1445del (p.Asp481fs) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054738 CV187783 NM_001165963.4(SCN1A):c.2980_2981del (p.Ser994fs) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054739 CV187875 NM_001165963.4(SCN1A):c.380A>T (p.His127Leu) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054740 CV187712 NM_001165963.4(SCN1A):c.5297_5298del (p.Phe1766fs) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054741 CV187866 NM_001165963.4(SCN1A):c.602+3A>C variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054742 CV187729 NM_001165963.4(SCN1A):c.4934G>C (p.Arg1645Pro) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054743 CV187822 NM_001165963.4(SCN1A):c.1804G>T (p.Glu602Ter) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054744 CV187740 NM_001165963.4(SCN1A):c.4549A>T (p.Lys1517Ter) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054745 CV187774 NM_001165963.4(SCN1A):c.3550+1G>A variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054746 CV187855 NM_001165963.4(SCN1A):c.964+14T>G variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054747 CV187820 NM_001165963.4(SCN1A):c.1970C>T (p.Pro657Leu) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054748 CV187728 NM_001165963.4(SCN1A):c.4985C>T (p.Ala1662Val) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:23195492|PMID:26096185 10054748 CV187728 NM_001165963.4(SCN1A):c.4985C>T (p.Ala1662Val) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:23195492|PMID:26096185 10054749 CV187870 NM_001165963.4(SCN1A):c.473+1G>C variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054750 CV187762 NM_001165963.4(SCN1A):c.3818C>T (p.Ala1273Val) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:26096185|PMID:27582020 10054751 CV187749 NM_001165963.4(SCN1A):c.4168G>C (p.Val1390Leu) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054752 CV187787 NM_001165963.4(SCN1A):c.2936G>A (p.Gly979Glu) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:17347258|PMID:26096185|PMID:28492532 10054752 CV187787 NM_001165963.4(SCN1A):c.2936G>A (p.Gly979Glu) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:17347258|PMID:26096185|PMID:28492532 10054753 CV187852 NM_001165963.4(SCN1A):c.1024G>T (p.Ala342Ser) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054754 CV187849 NM_001165963.4(SCN1A):c.1046A>G (p.Tyr349Cys) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:24168886|PMID:26096185|PMID:28492532|PMID:35074891 10054754 CV187849 NM_001165963.4(SCN1A):c.1046A>G (p.Tyr349Cys) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:24168886|PMID:26096185|PMID:28492532|PMID:35074891 10054755 CV187702 NM_001165963.4(SCN1A):c.5662C>T (p.Gln1888Ter) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:14738421|PMID:20522430|PMID:23195492|PMID:26096185|PMID:28492532 10054755 CV187702 NM_001165963.4(SCN1A):c.5662C>T (p.Gln1888Ter) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:14738421|PMID:20522430|PMID:23195492|PMID:26096185|PMID:28492532 10054756 CV187856 NM_001165963.4(SCN1A):c.930_931dup (p.Glu311fs) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054757 CV187858 NM_001165963.4(SCN1A):c.826A>C (p.Lys276Gln) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054758 CV187883 NM_001165963.4(SCN1A):c.70G>A (p.Ala24Thr) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054759 CV187872 NM_001165963.4(SCN1A):c.433A>G (p.Met145Val) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054761 CV187721 NM_001165963.4(SCN1A):c.5063G>T (p.Gly1688Val) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054762 CV187761 NM_001165963.4(SCN1A):c.3821A>C (p.Tyr1274Ser) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054763 CV187759 NM_001165963.4(SCN1A):c.3858G>A (p.Trp1286Ter) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dravet syndrome PMID:26096185 10054764 CV187871 NM_006920.4(SCN1A):c.384_473del (p.Leu129_Glu158del) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:15689448|PMID:21943391|PMID:26096185 10054765 CV187771 NM_001165963.4(SCN1A):c.3661G>C (p.Glu1221Gln) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy PMID:21248271|PMID:26096185|PMID:28492532 10054765 CV187771 NM_001165963.4(SCN1A):c.3661G>C (p.Glu1221Gln) variant DOID:0112202 developmental and epileptic encephalopathy IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Developmental and epileptic encephalopathy PMID:21248271|PMID:26096185|PMID:28492532 10054766 CV196445 NM_000051.4(ATM):c.8732C>T (p.Thr2911Ile) variant DOID:12704 ataxia telangiectasia IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:18066086|PMID:25741868|PMID:28492532|PMID:28888541|PMID:29922827 10054766 CV196445 NM_000051.4(ATM):c.8732C>T (p.Thr2911Ile) variant DOID:1612 breast cancer IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Breast cancer, early-onset PMID:18066086|PMID:25741868|PMID:28492532|PMID:28888541|PMID:29922827 10054766 CV196445 NM_000051.4(ATM):c.8732C>T (p.Thr2911Ile) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:18066086|PMID:25741868|PMID:28492532|PMID:28888541|PMID:29922827 10054767 CV197405 NM_001613.4(ACTA2):c.1A>G (p.Met1Val) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:29642797 10054768 CV197404 NM_001613.4(ACTA2):c.79G>A (p.Asp27Asn) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:37042257 10054769 CV197403 NM_001613.4(ACTA2):c.115C>G (p.Arg39Gly) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:19409525|PMID:21248741|PMID:21733706|PMID:21937134|PMID:24243736|PMID:25644172|PMID:25759435|PMID:27611364|PMID:28492532 10054769 CV197403 NM_001613.4(ACTA2):c.115C>G (p.Arg39Gly) variant DOID:9001516 Familial Thoracic Aortic Aneurysm 6 IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 PMID:19409525|PMID:21248741|PMID:21733706|PMID:21937134|PMID:24243736|PMID:25644172|PMID:25759435|PMID:27611364|PMID:28492532 10054770 CV197402 NM_001613.4(ACTA2):c.116G>A (p.Arg39His) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:19409525|PMID:21212136|PMID:21248741|PMID:21733706|PMID:21937134|PMID:24243736|PMID:25644172|PMID:25741868|PMID:25759435|PMID:26153420|PMID:27611364|PMID:28492532|PMID:29907982 10054770 CV197402 NM_001613.4(ACTA2):c.116G>A (p.Arg39His) variant DOID:520 aortic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial aortopathy PMID:19409525|PMID:21212136|PMID:21248741|PMID:21733706|PMID:21937134|PMID:24243736|PMID:25644172|PMID:25741868|PMID:25759435|PMID:26153420|PMID:27611364|PMID:28492532|PMID:29907982 10054770 CV197402 NM_001613.4(ACTA2):c.116G>A (p.Arg39His) variant DOID:9001516 Familial Thoracic Aortic Aneurysm 6 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI PMID:19409525|PMID:21212136|PMID:21248741|PMID:21733706|PMID:21937134|PMID:24243736|PMID:25644172|PMID:25741868|PMID:25759435|PMID:26153420|PMID:27611364|PMID:28492532|PMID:29907982 10054771 CV197401 NM_001613.4(ACTA2):c.178G>A (p.Ala60Thr) variant DOID:9001516 Familial Thoracic Aortic Aneurysm 6 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 PMID:25741868|PMID:27551047|PMID:28652363|PMID:29907982 10054772 CV197400 NM_001613.4(ACTA2):c.247G>A (p.Asp83Asn) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868 10054772 CV197400 NM_001613.4(ACTA2):c.247G>A (p.Asp83Asn) variant DOID:9001516 Familial Thoracic Aortic Aneurysm 6 IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 PMID:25741868 10054774 CV197398 NM_001613.4(ACTA2):c.353G>A (p.Arg118Gln) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:17994018|PMID:19409525|PMID:21248741|PMID:21288906|PMID:23099432|PMID:24033266|PMID:25741868|PMID:25759435|PMID:27551047|PMID:28492532|PMID:28652363|PMID:35943490|PMID:38044429 10054774 CV197398 NM_001613.4(ACTA2):c.353G>A (p.Arg118Gln) variant DOID:9001444 Moyamoya Disease 5 IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Moyamoya disease 5 PMID:17994018|PMID:19409525|PMID:21248741|PMID:21288906|PMID:23099432|PMID:24033266|PMID:25741868|PMID:25759435|PMID:27551047|PMID:28492532|PMID:28652363|PMID:35943490|PMID:38044429 10054774 CV197398 NM_001613.4(ACTA2):c.353G>A (p.Arg118Gln) variant DOID:9001516 Familial Thoracic Aortic Aneurysm 6 IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI PMID:17994018|PMID:19409525|PMID:21248741|PMID:21288906|PMID:23099432|PMID:24033266|PMID:25741868|PMID:25759435|PMID:27551047|PMID:28492532|PMID:28652363|PMID:35943490|PMID:38044429 10054774 CV197398 NM_001613.4(ACTA2):c.353G>A (p.Arg118Gln) variant DOID:9007900 Multisystemic Smooth Muscle Dysfunction Syndrome IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: SMOOTH MUSCLE DYSFUNCTION SYNDROME PMID:17994018|PMID:19409525|PMID:21248741|PMID:21288906|PMID:23099432|PMID:24033266|PMID:25741868|PMID:25759435|PMID:27551047|PMID:28492532|PMID:28652363|PMID:35943490|PMID:38044429 10054775 CV197397 NM_001613.4(ACTA2):c.446G>T (p.Arg149Leu) variant DOID:9001516 Familial Thoracic Aortic Aneurysm 6 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 PMID:19409525|PMID:21212136|PMID:21248741|PMID:24020716|PMID:25644172|PMID:28492532 10054776 CV197396 NM_001613.4(ACTA2):c.478G>A (p.Gly160Ser) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:28492532 10054776 CV197396 NM_001613.4(ACTA2):c.478G>A (p.Gly160Ser) variant DOID:9001516 Familial Thoracic Aortic Aneurysm 6 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 PMID:28492532 10054777 CV197395 NM_001613.4(ACTA2):c.697G>A (p.Ala233Thr) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10054777 CV197395 NM_001613.4(ACTA2):c.697G>A (p.Ala233Thr) variant DOID:9001516 Familial Thoracic Aortic Aneurysm 6 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI PMID:25741868|PMID:28492532 10054778 CV197394 NM_001613.4(ACTA2):c.763G>A (p.Glu255Lys) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:28492532 10054778 CV197394 NM_001613.4(ACTA2):c.763G>A (p.Glu255Lys) variant DOID:9001516 Familial Thoracic Aortic Aneurysm 6 IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 PMID:28492532 10054779 CV197393 NM_001613.4(ACTA2):c.808G>A (p.Gly270Arg) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:17576681|PMID:23099432|PMID:25741868|PMID:25759435|PMID:26188975|PMID:28492532|PMID:29543232|PMID:9536098 10054779 CV197393 NM_001613.4(ACTA2):c.808G>A (p.Gly270Arg) variant DOID:9001516 Familial Thoracic Aortic Aneurysm 6 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI PMID:17576681|PMID:23099432|PMID:25741868|PMID:25759435|PMID:26188975|PMID:28492532|PMID:29543232|PMID:9536098 10054780 CV197392 NM_001613.4(ACTA2):c.809G>A (p.Gly270Glu) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:23099432|PMID:25759435|PMID:26188975|PMID:28492532 10054780 CV197392 NM_001613.4(ACTA2):c.809G>A (p.Gly270Glu) variant DOID:9001516 Familial Thoracic Aortic Aneurysm 6 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI PMID:23099432|PMID:25759435|PMID:26188975|PMID:28492532 10054783 CV197387 NM_001613.4(ACTA2):c.1026G>A (p.Trp342Ter) variant DOID:9001516 Familial Thoracic Aortic Aneurysm 6 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 PMID:28492532 10054784 CV196497 NM_000069.3(CACNA1S):c.4113+7T>C variant DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis 1 PMID:25741868|PMID:26467025|PMID:28492532 10054785 CV197390 NM_001613.4(ACTA2):c.983_985del (p.Lys328del) variant DOID:9001516 Familial Thoracic Aortic Aneurysm 6 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6 PMID:28492532 10054787 CV196498 NM_000069.3(CACNA1S):c.2047C>T (p.Arg683Cys) variant DOID:0081350 congenital myopathy 18 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Congenital myopathy 18 PMID:24195946|PMID:25741868|PMID:26467025|PMID:28326467|PMID:28492532 10054787 CV196498 NM_000069.3(CACNA1S):c.2047C>T (p.Arg683Cys) variant DOID:8545 malignant hyperthermia IAGP D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: Malignant hyperthermia susceptibility PMID:24195946|PMID:25741868|PMID:26467025|PMID:28326467|PMID:28492532 10054787 CV196498 NM_000069.3(CACNA1S):c.2047C>T (p.Arg683Cys) variant DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis 1 PMID:24195946|PMID:25741868|PMID:26467025|PMID:28326467|PMID:28492532 10054787 CV196498 NM_000069.3(CACNA1S):c.2047C>T (p.Arg683Cys) variant DOID:9006927 Thyrotoxic Periodic Paralysis IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Thyrotoxic periodic paralysis, susceptibility to, 1 PMID:24195946|PMID:25741868|PMID:26467025|PMID:28326467|PMID:28492532 10054788 CV196760 NM_000090.4(COL3A1):c.114C>G (p.Ser38=) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and aortic dissections PMID:25741868|PMID:28492532 10054788 CV196760 NM_000090.4(COL3A1):c.114C>G (p.Ser38=) variant DOID:14756 vascular type Ehlers-Danlos syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Ehlers Danlos syndrome, Sack-Barabas type PMID:25741868|PMID:28492532 10054788 CV196760 NM_000090.4(COL3A1):c.114C>G (p.Ser38=) variant DOID:65 connective tissue disease IAGP D RGD:8554872 20180807 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 10054788 CV196760 NM_000090.4(COL3A1):c.114C>G (p.Ser38=) variant DOID:9001287 Ehlers-Danlos Syndrome Type 4 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos Syndrome Type IV PMID:25741868|PMID:28492532 10054789 CV196761 NM_000090.4(COL3A1):c.119C>T (p.Ala40Val) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:22001912|PMID:24033266|PMID:25741868|PMID:28492532 10054789 CV196761 NM_000090.4(COL3A1):c.119C>T (p.Ala40Val) variant DOID:14756 vascular type Ehlers-Danlos syndrome IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Ehlers Danlos syndrome, Sack-Barabas type PMID:22001912|PMID:24033266|PMID:25741868|PMID:28492532 10054789 CV196761 NM_000090.4(COL3A1):c.119C>T (p.Ala40Val) variant DOID:65 connective tissue disease IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Connective tissue disease PMID:22001912|PMID:24033266|PMID:25741868|PMID:28492532 10054789 CV196761 NM_000090.4(COL3A1):c.119C>T (p.Ala40Val) variant DOID:9001287 Ehlers-Danlos Syndrome Type 4 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4 PMID:22001912|PMID:24033266|PMID:25741868|PMID:28492532 10054790 CV196762 NM_000090.4(COL3A1):c.121G>T (p.Asp41Tyr) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10054790 CV196762 NM_000090.4(COL3A1):c.121G>T (p.Asp41Tyr) variant DOID:14756 vascular type Ehlers-Danlos syndrome IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers Danlos syndrome, Sack-Barabas type PMID:25741868|PMID:28492532 10054790 CV196762 NM_000090.4(COL3A1):c.121G>T (p.Asp41Tyr) variant DOID:9000950 Polymicrogyria with or without Vascular-Type Ehlers-Danlos Syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Polymicrogyria with or without vascular-type ehlers-danlos syndrome PMID:25741868|PMID:28492532 10054790 CV196762 NM_000090.4(COL3A1):c.121G>T (p.Asp41Tyr) variant DOID:9001287 Ehlers-Danlos Syndrome Type 4 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos Syndrome Type IV PMID:25741868|PMID:28492532 10054791 CV196775 NM_000090.4(COL3A1):c.1051-13G>A variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:24033266|PMID:25741868|PMID:28492532 10054791 CV196775 NM_000090.4(COL3A1):c.1051-13G>A variant DOID:14756 vascular type Ehlers-Danlos syndrome IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Ehlers Danlos syndrome, Sack-Barabas type PMID:24033266|PMID:25741868|PMID:28492532 10054791 CV196775 NM_000090.4(COL3A1):c.1051-13G>A variant DOID:9001287 Ehlers-Danlos Syndrome Type 4 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos Syndrome Type IV PMID:24033266|PMID:25741868|PMID:28492532 10054792 CV196779 NM_000090.4(COL3A1):c.1234G>T (p.Ala412Ser) variant DOID:9001287 Ehlers-Danlos Syndrome Type 4 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4 PMID:28492532 10054793 CV196782 NM_000090.4(COL3A1):c.1348-4del variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10054793 CV196782 NM_000090.4(COL3A1):c.1348-4del variant DOID:14756 vascular type Ehlers-Danlos syndrome IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Ehlers Danlos syndrome, Sack-Barabas type PMID:25741868|PMID:28492532 10054793 CV196782 NM_000090.4(COL3A1):c.1348-4del variant DOID:9001287 Ehlers-Danlos Syndrome Type 4 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos Syndrome Type IV PMID:25741868|PMID:28492532 10054794 CV196783 NM_000090.4(COL3A1):c.1424C>T (p.Ala475Val) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10054794 CV196783 NM_000090.4(COL3A1):c.1424C>T (p.Ala475Val) variant DOID:14756 vascular type Ehlers-Danlos syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ehlers Danlos syndrome, Sack-Barabas type PMID:25741868|PMID:28492532 10054794 CV196783 NM_000090.4(COL3A1):c.1424C>T (p.Ala475Val) variant DOID:9000950 Polymicrogyria with or without Vascular-Type Ehlers-Danlos Syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Polymicrogyria with or without vascular-type ehlers-danlos syndrome PMID:25741868|PMID:28492532 10054794 CV196783 NM_000090.4(COL3A1):c.1424C>T (p.Ala475Val) variant DOID:9001287 Ehlers-Danlos Syndrome Type 4 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos Syndrome Type IV PMID:25741868|PMID:28492532 10054795 CV196786 NM_000090.4(COL3A1):c.1659T>A (p.Pro553=) variant DOID:13359 Ehlers-Danlos syndrome IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:25741868|PMID:28492532 10054795 CV196786 NM_000090.4(COL3A1):c.1659T>A (p.Pro553=) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20200407 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and aortic dissections PMID:25741868|PMID:28492532 10054795 CV196786 NM_000090.4(COL3A1):c.1659T>A (p.Pro553=) variant DOID:14756 vascular type Ehlers-Danlos syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Ehlers Danlos syndrome, Sack-Barabas type PMID:25741868|PMID:28492532 10054795 CV196786 NM_000090.4(COL3A1):c.1659T>A (p.Pro553=) variant DOID:9001287 Ehlers-Danlos Syndrome Type 4 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos Syndrome Type IV PMID:25741868|PMID:28492532 10054796 CV196791 NM_000090.4(COL3A1):c.2022+5T>C variant DOID:13359 Ehlers-Danlos syndrome IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:25741868|PMID:28492532 10054796 CV196791 NM_000090.4(COL3A1):c.2022+5T>C variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and aortic dissections PMID:25741868|PMID:28492532 10054796 CV196791 NM_000090.4(COL3A1):c.2022+5T>C variant DOID:14756 vascular type Ehlers-Danlos syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Ehlers Danlos syndrome, Sack-Barabas type PMID:25741868|PMID:28492532 10054796 CV196791 NM_000090.4(COL3A1):c.2022+5T>C variant DOID:9001287 Ehlers-Danlos Syndrome Type 4 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos Syndrome Type IV PMID:25741868|PMID:28492532 10054797 CV196792 NM_000090.4(COL3A1):c.2056C>G (p.Pro686Ala) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10054797 CV196792 NM_000090.4(COL3A1):c.2056C>G (p.Pro686Ala) variant DOID:14756 vascular type Ehlers-Danlos syndrome IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Ehlers Danlos syndrome, Sack-Barabas type PMID:25741868|PMID:28492532 10054797 CV196792 NM_000090.4(COL3A1):c.2056C>G (p.Pro686Ala) variant DOID:9001287 Ehlers-Danlos Syndrome Type 4 IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos Syndrome Type IV PMID:25741868|PMID:28492532 10054798 CV196794 NM_000090.4(COL3A1):c.2242G>A (p.Gly748Ser) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10054798 CV196794 NM_000090.4(COL3A1):c.2242G>A (p.Gly748Ser) variant DOID:14756 vascular type Ehlers-Danlos syndrome IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Ehlers Danlos syndrome, Sack-Barabas type PMID:25741868|PMID:28492532 10054798 CV196794 NM_000090.4(COL3A1):c.2242G>A (p.Gly748Ser) variant DOID:9001287 Ehlers-Danlos Syndrome Type 4 IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos Syndrome Type IV PMID:25741868|PMID:28492532 10054800 CV196799 NM_000090.4(COL3A1):c.2498A>G (p.Lys833Arg) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and aortic dissections PMID:25741868|PMID:28492532 10054800 CV196799 NM_000090.4(COL3A1):c.2498A>G (p.Lys833Arg) variant DOID:14756 vascular type Ehlers-Danlos syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Ehlers Danlos syndrome, Sack-Barabas type PMID:25741868|PMID:28492532 10054800 CV196799 NM_000090.4(COL3A1):c.2498A>G (p.Lys833Arg) variant DOID:9001287 Ehlers-Danlos Syndrome Type 4 IAGP D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4 PMID:25741868|PMID:28492532 10054801 CV196804 NM_000090.4(COL3A1):c.2700C>T (p.Gly900=) variant DOID:13359 Ehlers-Danlos syndrome IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:25741868|PMID:28492532 10054801 CV196804 NM_000090.4(COL3A1):c.2700C>T (p.Gly900=) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and aortic dissections PMID:25741868|PMID:28492532 10054801 CV196804 NM_000090.4(COL3A1):c.2700C>T (p.Gly900=) variant DOID:14756 vascular type Ehlers-Danlos syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Ehlers Danlos syndrome, Sack-Barabas type PMID:25741868|PMID:28492532 10054801 CV196804 NM_000090.4(COL3A1):c.2700C>T (p.Gly900=) variant DOID:9001287 Ehlers-Danlos Syndrome Type 4 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos Syndrome Type IV PMID:25741868|PMID:28492532 10054802 CV196808 NM_000090.4(COL3A1):c.3202-14del variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10054802 CV196808 NM_000090.4(COL3A1):c.3202-14del variant DOID:14756 vascular type Ehlers-Danlos syndrome IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Ehlers Danlos syndrome, Sack-Barabas type PMID:25741868|PMID:28492532 10054802 CV196808 NM_000090.4(COL3A1):c.3202-14del variant DOID:9001287 Ehlers-Danlos Syndrome Type 4 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos Syndrome Type IV PMID:25741868|PMID:28492532 10054803 CV196814 NM_000090.4(COL3A1):c.3525+19G>A variant DOID:9001287 Ehlers-Danlos Syndrome Type 4 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4 PMID:28492532 10054804 CV196815 NM_000090.4(COL3A1):c.3525+19del variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10054804 CV196815 NM_000090.4(COL3A1):c.3525+19del variant DOID:14756 vascular type Ehlers-Danlos syndrome IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Ehlers Danlos syndrome, Sack-Barabas type PMID:25741868|PMID:28492532 10054804 CV196815 NM_000090.4(COL3A1):c.3525+19del variant DOID:65 connective tissue disease IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Connective tissue disease PMID:25741868|PMID:28492532 10054804 CV196815 NM_000090.4(COL3A1):c.3525+19del variant DOID:9001287 Ehlers-Danlos Syndrome Type 4 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos Syndrome Type IV PMID:25741868|PMID:28492532 10054805 CV196816 NM_000090.4(COL3A1):c.3654G>T (p.Pro1218=) variant DOID:13359 Ehlers-Danlos syndrome IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:18272325|PMID:25741868|PMID:28492532 10054805 CV196816 NM_000090.4(COL3A1):c.3654G>T (p.Pro1218=) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and aortic dissections PMID:18272325|PMID:25741868|PMID:28492532 10054805 CV196816 NM_000090.4(COL3A1):c.3654G>T (p.Pro1218=) variant DOID:14756 vascular type Ehlers-Danlos syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Ehlers Danlos syndrome, Sack-Barabas type PMID:18272325|PMID:25741868|PMID:28492532 10054805 CV196816 NM_000090.4(COL3A1):c.3654G>T (p.Pro1218=) variant DOID:9001287 Ehlers-Danlos Syndrome Type 4 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos Syndrome Type IV PMID:18272325|PMID:25741868|PMID:28492532 10054806 CV196763 NM_000090.4(COL3A1):c.130G>A (p.Val44Ile) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:25758994|PMID:28492532|PMID:30122538 10054806 CV196763 NM_000090.4(COL3A1):c.130G>A (p.Val44Ile) variant DOID:14756 vascular type Ehlers-Danlos syndrome IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Ehlers Danlos syndrome, Sack-Barabas type PMID:25741868|PMID:25758994|PMID:28492532|PMID:30122538 10054806 CV196763 NM_000090.4(COL3A1):c.130G>A (p.Val44Ile) variant DOID:9001287 Ehlers-Danlos Syndrome Type 4 IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos Syndrome Type IV PMID:25741868|PMID:25758994|PMID:28492532|PMID:30122538 10054807 CV196764 NM_000090.4(COL3A1):c.203A>G (p.Asp68Gly) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20301667|PMID:25741868|PMID:26566670|PMID:28492532|PMID:29346445 10054807 CV196764 NM_000090.4(COL3A1):c.203A>G (p.Asp68Gly) variant DOID:14756 vascular type Ehlers-Danlos syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Ehlers Danlos syndrome, Sack-Barabas type PMID:20301667|PMID:25741868|PMID:26566670|PMID:28492532|PMID:29346445 10054807 CV196764 NM_000090.4(COL3A1):c.203A>G (p.Asp68Gly) variant DOID:9000950 Polymicrogyria with or without Vascular-Type Ehlers-Danlos Syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Polymicrogyria with or without vascular-type ehlers-danlos syndrome PMID:20301667|PMID:25741868|PMID:26566670|PMID:28492532|PMID:29346445 10054807 CV196764 NM_000090.4(COL3A1):c.203A>G (p.Asp68Gly) variant DOID:9001287 Ehlers-Danlos Syndrome Type 4 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos Syndrome Type IV PMID:20301667|PMID:25741868|PMID:26566670|PMID:28492532|PMID:29346445 10054808 CV196765 NM_000090.4(COL3A1):c.266C>G (p.Pro89Arg) variant DOID:9001287 Ehlers-Danlos Syndrome Type 4 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4 PMID:28492532 10054810 CV196767 NM_000090.4(COL3A1):c.560C>T (p.Thr187Ile) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:25944730|PMID:28492532 10054810 CV196767 NM_000090.4(COL3A1):c.560C>T (p.Thr187Ile) variant DOID:14756 vascular type Ehlers-Danlos syndrome IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Ehlers Danlos syndrome, Sack-Barabas type PMID:25741868|PMID:25944730|PMID:28492532 10054810 CV196767 NM_000090.4(COL3A1):c.560C>T (p.Thr187Ile) variant DOID:9001287 Ehlers-Danlos Syndrome Type 4 IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos Syndrome Type IV PMID:25741868|PMID:25944730|PMID:28492532 10054811 CV196769 NM_000090.4(COL3A1):c.586T>C (p.Ser196Pro) variant DOID:13359 Ehlers-Danlos syndrome IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:20301667|PMID:25741868|PMID:28492532|PMID:29346445 10054811 CV196769 NM_000090.4(COL3A1):c.586T>C (p.Ser196Pro) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20301667|PMID:25741868|PMID:28492532|PMID:29346445 10054811 CV196769 NM_000090.4(COL3A1):c.586T>C (p.Ser196Pro) variant DOID:14756 vascular type Ehlers-Danlos syndrome IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Ehlers Danlos syndrome, Sack-Barabas type PMID:20301667|PMID:25741868|PMID:28492532|PMID:29346445 10054811 CV196769 NM_000090.4(COL3A1):c.586T>C (p.Ser196Pro) variant DOID:9001287 Ehlers-Danlos Syndrome Type 4 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos Syndrome Type IV PMID:20301667|PMID:25741868|PMID:28492532|PMID:29346445 10054812 CV196770 NM_000090.4(COL3A1):c.706C>T (p.Pro236Ser) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10054812 CV196770 NM_000090.4(COL3A1):c.706C>T (p.Pro236Ser) variant DOID:14756 vascular type Ehlers-Danlos syndrome IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Ehlers Danlos syndrome, Sack-Barabas type PMID:25741868|PMID:28492532 10054812 CV196770 NM_000090.4(COL3A1):c.706C>T (p.Pro236Ser) variant DOID:65 connective tissue disease IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 10054812 CV196770 NM_000090.4(COL3A1):c.706C>T (p.Pro236Ser) variant DOID:9001287 Ehlers-Danlos Syndrome Type 4 IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos Syndrome Type IV PMID:25741868|PMID:28492532 10054813 CV196771 NM_000090.4(COL3A1):c.842C>A (p.Pro281His) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10054813 CV196771 NM_000090.4(COL3A1):c.842C>A (p.Pro281His) variant DOID:14756 vascular type Ehlers-Danlos syndrome IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Ehlers Danlos syndrome, Sack-Barabas type PMID:25741868|PMID:28492532 10054813 CV196771 NM_000090.4(COL3A1):c.842C>A (p.Pro281His) variant DOID:9000950 Polymicrogyria with or without Vascular-Type Ehlers-Danlos Syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Polymicrogyria with or without vascular-type ehlers-danlos syndrome PMID:25741868|PMID:28492532 10054813 CV196771 NM_000090.4(COL3A1):c.842C>A (p.Pro281His) variant DOID:9001287 Ehlers-Danlos Syndrome Type 4 IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos Syndrome Type IV PMID:25741868|PMID:28492532 10054814 CV196772 NM_000090.4(COL3A1):c.1024G>A (p.Gly342Arg) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:19344236|PMID:19444361|PMID:24922459|PMID:25741868|PMID:25758994|PMID:28492532|PMID:31126764|PMID:32483363|PMID:36318936|PMID:7695699|PMID:8218237 10054814 CV196772 NM_000090.4(COL3A1):c.1024G>A (p.Gly342Arg) variant DOID:14756 vascular type Ehlers-Danlos syndrome IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Ehlers Danlos syndrome, Sack-Barabas type PMID:19344236|PMID:19444361|PMID:24922459|PMID:25741868|PMID:25758994|PMID:28492532|PMID:31126764|PMID:32483363|PMID:36318936|PMID:7695699|PMID:8218237 10054814 CV196772 NM_000090.4(COL3A1):c.1024G>A (p.Gly342Arg) variant DOID:9001287 Ehlers-Danlos Syndrome Type 4 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos Syndrome Type IV PMID:19344236|PMID:19444361|PMID:24922459|PMID:25741868|PMID:25758994|PMID:28492532|PMID:31126764|PMID:32483363|PMID:36318936|PMID:7695699|PMID:8218237 10054817 CV196776 NM_000090.4(COL3A1):c.1165A>T (p.Asn389Tyr) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:25758994|PMID:28492532|PMID:31719132 10054817 CV196776 NM_000090.4(COL3A1):c.1165A>T (p.Asn389Tyr) variant DOID:14756 vascular type Ehlers-Danlos syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ehlers Danlos syndrome, Sack-Barabas type PMID:25741868|PMID:25758994|PMID:28492532|PMID:31719132 10054817 CV196776 NM_000090.4(COL3A1):c.1165A>T (p.Asn389Tyr) variant DOID:9000950 Polymicrogyria with or without Vascular-Type Ehlers-Danlos Syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Polymicrogyria with or without vascular-type ehlers-danlos syndrome PMID:25741868|PMID:25758994|PMID:28492532|PMID:31719132 10054817 CV196776 NM_000090.4(COL3A1):c.1165A>T (p.Asn389Tyr) variant DOID:9001287 Ehlers-Danlos Syndrome Type 4 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4 PMID:25741868|PMID:25758994|PMID:28492532|PMID:31719132 10054819 CV196780 NM_000090.4(COL3A1):c.1241G>T (p.Gly414Val) variant DOID:9001287 Ehlers-Danlos Syndrome Type 4 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4 PMID:19344236|PMID:22492385|PMID:24922459|PMID:25758994|PMID:28492532|PMID:7695699|PMID:8218237 10054820 CV196781 NM_000090.4(COL3A1):c.1294G>A (p.Gly432Ser) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections 10054821 CV196784 NM_000090.4(COL3A1):c.1472G>A (p.Arg491Gln) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532|PMID:29907982|PMID:30896870 10054821 CV196784 NM_000090.4(COL3A1):c.1472G>A (p.Arg491Gln) variant DOID:14756 vascular type Ehlers-Danlos syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Ehlers Danlos syndrome, Sack-Barabas type PMID:25741868|PMID:28492532|PMID:29907982|PMID:30896870 10054821 CV196784 NM_000090.4(COL3A1):c.1472G>A (p.Arg491Gln) variant DOID:9001287 Ehlers-Danlos Syndrome Type 4 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos Syndrome Type IV PMID:25741868|PMID:28492532|PMID:29907982|PMID:30896870 10054824 CV196788 NM_000090.4(COL3A1):c.1921C>G (p.Gln641Glu) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868 10054824 CV196788 NM_000090.4(COL3A1):c.1921C>G (p.Gln641Glu) variant DOID:14756 vascular type Ehlers-Danlos syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ehlers Danlos syndrome, Sack-Barabas type PMID:25741868 10054824 CV196788 NM_000090.4(COL3A1):c.1921C>G (p.Gln641Glu) variant DOID:9000950 Polymicrogyria with or without Vascular-Type Ehlers-Danlos Syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Polymicrogyria with or without vascular-type ehlers-danlos syndrome PMID:25741868 10054824 CV196788 NM_000090.4(COL3A1):c.1921C>G (p.Gln641Glu) variant DOID:9001287 Ehlers-Danlos Syndrome Type 4 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos Syndrome Type IV PMID:25741868 10054825 CV196789 NM_000090.4(COL3A1):c.2002C>A (p.Pro668Thr) variant DOID:13359 Ehlers-Danlos syndrome IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:22019127|PMID:24033266|PMID:25503501|PMID:25741868|PMID:26188975|PMID:28492532|PMID:8514866 10054825 CV196789 NM_000090.4(COL3A1):c.2002C>A (p.Pro668Thr) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and aortic dissections PMID:22019127|PMID:24033266|PMID:25503501|PMID:25741868|PMID:26188975|PMID:28492532|PMID:8514866 10054825 CV196789 NM_000090.4(COL3A1):c.2002C>A (p.Pro668Thr) variant DOID:14756 vascular type Ehlers-Danlos syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Ehlers Danlos syndrome, Sack-Barabas type PMID:22019127|PMID:24033266|PMID:25503501|PMID:25741868|PMID:26188975|PMID:28492532|PMID:8514866 10054825 CV196789 NM_000090.4(COL3A1):c.2002C>A (p.Pro668Thr) variant DOID:9000950 Polymicrogyria with or without Vascular-Type Ehlers-Danlos Syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome PMID:22019127|PMID:24033266|PMID:25503501|PMID:25741868|PMID:26188975|PMID:28492532|PMID:8514866 10054825 CV196789 NM_000090.4(COL3A1):c.2002C>A (p.Pro668Thr) variant DOID:9001287 Ehlers-Danlos Syndrome Type 4 IAGP D RGD:8554872 20180626 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4 PMID:22019127|PMID:24033266|PMID:25503501|PMID:25741868|PMID:26188975|PMID:28492532|PMID:8514866 10054826 CV196790 NM_000090.4(COL3A1):c.2002C>T (p.Pro668Ser) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20200407 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and aortic dissections PMID:25741868|PMID:28492532 10054826 CV196790 NM_000090.4(COL3A1):c.2002C>T (p.Pro668Ser) variant DOID:14756 vascular type Ehlers-Danlos syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Ehlers Danlos syndrome, Sack-Barabas type PMID:25741868|PMID:28492532 10054826 CV196790 NM_000090.4(COL3A1):c.2002C>T (p.Pro668Ser) variant DOID:9001287 Ehlers-Danlos Syndrome Type 4 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos Syndrome Type IV PMID:25741868|PMID:28492532 10054830 CV196798 NM_000090.4(COL3A1):c.2485G>T (p.Ala829Ser) variant DOID:9001287 Ehlers-Danlos Syndrome Type 4 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4 PMID:25741868|PMID:28492532 10054831 CV196800 NM_000090.4(COL3A1):c.2606C>A (p.Pro869His) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10054831 CV196800 NM_000090.4(COL3A1):c.2606C>A (p.Pro869His) variant DOID:14756 vascular type Ehlers-Danlos syndrome IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Ehlers Danlos syndrome, Sack-Barabas type PMID:25741868|PMID:28492532 10054831 CV196800 NM_000090.4(COL3A1):c.2606C>A (p.Pro869His) variant DOID:9001287 Ehlers-Danlos Syndrome Type 4 IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos Syndrome Type IV PMID:25741868|PMID:28492532 10054832 CV196801 NM_000090.4(COL3A1):c.2665A>T (p.Asn889Tyr) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and aortic dissections PMID:25741868|PMID:28492532 10054832 CV196801 NM_000090.4(COL3A1):c.2665A>T (p.Asn889Tyr) variant DOID:14756 vascular type Ehlers-Danlos syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Ehlers Danlos syndrome, Sack-Barabas type PMID:25741868|PMID:28492532 10054832 CV196801 NM_000090.4(COL3A1):c.2665A>T (p.Asn889Tyr) variant DOID:9000950 Polymicrogyria with or without Vascular-Type Ehlers-Danlos Syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Polymicrogyria with or without vascular-type ehlers-danlos syndrome PMID:25741868|PMID:28492532 10054832 CV196801 NM_000090.4(COL3A1):c.2665A>T (p.Asn889Tyr) variant DOID:9001287 Ehlers-Danlos Syndrome Type 4 IAGP D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4 PMID:25741868|PMID:28492532 10054834 CV196803 NM_000090.4(COL3A1):c.2689G>A (p.Gly897Ser) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:19344236|PMID:24922459|PMID:25741868|PMID:25758994|PMID:28492532|PMID:35543214|PMID:35699227|PMID:7695699|PMID:8218237 10054834 CV196803 NM_000090.4(COL3A1):c.2689G>A (p.Gly897Ser) variant DOID:14756 vascular type Ehlers-Danlos syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Ehlers Danlos syndrome, Sack-Barabas type PMID:19344236|PMID:24922459|PMID:25741868|PMID:25758994|PMID:28492532|PMID:35543214|PMID:35699227|PMID:7695699|PMID:8218237 10054834 CV196803 NM_000090.4(COL3A1):c.2689G>A (p.Gly897Ser) variant DOID:9001287 Ehlers-Danlos Syndrome Type 4 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4 PMID:19344236|PMID:24922459|PMID:25741868|PMID:25758994|PMID:28492532|PMID:35543214|PMID:35699227|PMID:7695699|PMID:8218237 10054835 CV196805 NM_000090.4(COL3A1):c.3019G>A (p.Ala1007Thr) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10054835 CV196805 NM_000090.4(COL3A1):c.3019G>A (p.Ala1007Thr) variant DOID:14756 vascular type Ehlers-Danlos syndrome IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Ehlers Danlos syndrome, Sack-Barabas type PMID:25741868|PMID:28492532 10054835 CV196805 NM_000090.4(COL3A1):c.3019G>A (p.Ala1007Thr) variant DOID:9001287 Ehlers-Danlos Syndrome Type 4 IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos Syndrome Type IV PMID:25741868|PMID:28492532 10054836 CV196806 NM_000090.4(COL3A1):c.3061C>A (p.Leu1021Ile) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection PMID:25741868|PMID:28492532 10054836 CV196806 NM_000090.4(COL3A1):c.3061C>A (p.Leu1021Ile) variant DOID:14756 vascular type Ehlers-Danlos syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Ehlers Danlos syndrome, Sack-Barabas type PMID:25741868|PMID:28492532 10054836 CV196806 NM_000090.4(COL3A1):c.3061C>A (p.Leu1021Ile) variant DOID:9001287 Ehlers-Danlos Syndrome Type 4 IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4 PMID:25741868|PMID:28492532 10054837 CV196807 NM_000090.4(COL3A1):c.3101G>A (p.Arg1034His) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10054837 CV196807 NM_000090.4(COL3A1):c.3101G>A (p.Arg1034His) variant DOID:14756 vascular type Ehlers-Danlos syndrome IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers Danlos syndrome, Sack-Barabas type PMID:25741868|PMID:28492532 10054837 CV196807 NM_000090.4(COL3A1):c.3101G>A (p.Arg1034His) variant DOID:9001287 Ehlers-Danlos Syndrome Type 4 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos Syndrome Type IV PMID:25741868|PMID:28492532 10054838 CV196809 NM_000090.4(COL3A1):c.3245G>A (p.Arg1082Gln) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:25758994|PMID:28492532 10054838 CV196809 NM_000090.4(COL3A1):c.3245G>A (p.Arg1082Gln) variant DOID:14756 vascular type Ehlers-Danlos syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ehlers Danlos syndrome, Sack-Barabas type PMID:25741868|PMID:25758994|PMID:28492532 10054838 CV196809 NM_000090.4(COL3A1):c.3245G>A (p.Arg1082Gln) variant DOID:9001287 Ehlers-Danlos Syndrome Type 4 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos Syndrome Type IV PMID:25741868|PMID:25758994|PMID:28492532 10054839 CV196810 NM_000090.4(COL3A1):c.3266G>T (p.Gly1089Val) variant DOID:9001287 Ehlers-Danlos Syndrome Type 4 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4 PMID:19344236|PMID:24922459|PMID:25758994|PMID:28492532|PMID:7695699|PMID:8218237 10054841 CV196812 NM_000090.4(COL3A1):c.3325C>G (p.Arg1109Gly) variant DOID:13359 Ehlers-Danlos syndrome IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:25741868|PMID:28492532|PMID:29192238|PMID:31141158 10054841 CV196812 NM_000090.4(COL3A1):c.3325C>G (p.Arg1109Gly) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532|PMID:29192238|PMID:31141158 10054841 CV196812 NM_000090.4(COL3A1):c.3325C>G (p.Arg1109Gly) variant DOID:14756 vascular type Ehlers-Danlos syndrome IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ehlers Danlos syndrome, Sack-Barabas type PMID:25741868|PMID:28492532|PMID:29192238|PMID:31141158 10054841 CV196812 NM_000090.4(COL3A1):c.3325C>G (p.Arg1109Gly) variant DOID:9000950 Polymicrogyria with or without Vascular-Type Ehlers-Danlos Syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Polymicrogyria with or without vascular-type ehlers-danlos syndrome PMID:25741868|PMID:28492532|PMID:29192238|PMID:31141158 10054841 CV196812 NM_000090.4(COL3A1):c.3325C>G (p.Arg1109Gly) variant DOID:9001287 Ehlers-Danlos Syndrome Type 4 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos Syndrome Type IV PMID:25741868|PMID:28492532|PMID:29192238|PMID:31141158 10054843 CV196817 NM_000090.4(COL3A1):c.3818A>G (p.Lys1273Arg) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:25758994|PMID:26854089|PMID:28087566|PMID:28492532|PMID:29590070|PMID:30087447|PMID:31075413|PMID:31531849 10054843 CV196817 NM_000090.4(COL3A1):c.3818A>G (p.Lys1273Arg) variant DOID:14756 vascular type Ehlers-Danlos syndrome IAGP D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Ehlers Danlos syndrome, Sack-Barabas type PMID:25741868|PMID:25758994|PMID:26854089|PMID:28087566|PMID:28492532|PMID:29590070|PMID:30087447|PMID:31075413|PMID:31531849 10054843 CV196817 NM_000090.4(COL3A1):c.3818A>G (p.Lys1273Arg) variant DOID:14757 Ehlers-Danlos syndrome hypermobility type IAGP D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos Syndrome, Hypermobility Type PMID:25741868|PMID:25758994|PMID:26854089|PMID:28087566|PMID:28492532|PMID:29590070|PMID:30087447|PMID:31075413|PMID:31531849 10054843 CV196817 NM_000090.4(COL3A1):c.3818A>G (p.Lys1273Arg) variant DOID:9001287 Ehlers-Danlos Syndrome Type 4 IAGP D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos Syndrome Type IV PMID:25741868|PMID:25758994|PMID:26854089|PMID:28087566|PMID:28492532|PMID:29590070|PMID:30087447|PMID:31075413|PMID:31531849 10054844 CV196818 NM_000090.4(COL3A1):c.3934C>T (p.Arg1312Trp) variant DOID:9001287 Ehlers-Danlos Syndrome Type 4 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4 PMID:28492532 10054845 CV196819 NM_000090.4(COL3A1):c.4021G>A (p.Gly1341Ser) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:27153395|PMID:28492532|PMID:30379966 10054845 CV196819 NM_000090.4(COL3A1):c.4021G>A (p.Gly1341Ser) variant DOID:14756 vascular type Ehlers-Danlos syndrome IAGP D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Ehlers Danlos syndrome, Sack-Barabas type PMID:25741868|PMID:27153395|PMID:28492532|PMID:30379966 10054845 CV196819 NM_000090.4(COL3A1):c.4021G>A (p.Gly1341Ser) variant DOID:9001287 Ehlers-Danlos Syndrome Type 4 IAGP D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos Syndrome Type IV PMID:25741868|PMID:27153395|PMID:28492532|PMID:30379966 10054846 CV196820 NM_000090.4(COL3A1):c.4072C>T (p.Arg1358Ter) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868 10054846 CV196820 NM_000090.4(COL3A1):c.4072C>T (p.Arg1358Ter) variant DOID:14756 vascular type Ehlers-Danlos syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ehlers Danlos syndrome, Sack-Barabas type PMID:25741868 10054846 CV196820 NM_000090.4(COL3A1):c.4072C>T (p.Arg1358Ter) variant DOID:9000950 Polymicrogyria with or without Vascular-Type Ehlers-Danlos Syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Polymicrogyria with or without vascular-type ehlers-danlos syndrome PMID:25741868 10054846 CV196820 NM_000090.4(COL3A1):c.4072C>T (p.Arg1358Ter) variant DOID:9001287 Ehlers-Danlos Syndrome Type 4 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos Syndrome Type IV PMID:25741868 10054849 CV196759 NM_000090.4(COL3A1):c.101A>G (p.His34Arg) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10054849 CV196759 NM_000090.4(COL3A1):c.101A>G (p.His34Arg) variant DOID:14756 vascular type Ehlers-Danlos syndrome IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Ehlers Danlos syndrome, Sack-Barabas type PMID:25741868|PMID:28492532 10054849 CV196759 NM_000090.4(COL3A1):c.101A>G (p.His34Arg) variant DOID:9001287 Ehlers-Danlos Syndrome Type 4 IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos Syndrome Type IV PMID:25741868|PMID:28492532 10054851 CV196821 NM_000090.4(COL3A1):c.4087C>T (p.Arg1363Ter) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:24922459|PMID:25741868|PMID:28492532|PMID:31447099 10054851 CV196821 NM_000090.4(COL3A1):c.4087C>T (p.Arg1363Ter) variant DOID:14756 vascular type Ehlers-Danlos syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Ehlers Danlos syndrome, Sack-Barabas type PMID:24922459|PMID:25741868|PMID:28492532|PMID:31447099 10054851 CV196821 NM_000090.4(COL3A1):c.4087C>T (p.Arg1363Ter) variant DOID:520 aortic disease IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Familial aortopathy PMID:24922459|PMID:25741868|PMID:28492532|PMID:31447099 10054851 CV196821 NM_000090.4(COL3A1):c.4087C>T (p.Arg1363Ter) variant DOID:9001287 Ehlers-Danlos Syndrome Type 4 IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 4 PMID:24922459|PMID:25741868|PMID:28492532|PMID:31447099 10054852 CV197956 NM_024422.6(DSC2):c.371A>G (p.His124Arg) variant DOID:0050431 arrhythmogenic right ventricular cardiomyopathy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia PMID:25741868|PMID:28492532 10054852 CV197956 NM_024422.6(DSC2):c.371A>G (p.His124Arg) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10054852 CV197956 NM_024422.6(DSC2):c.371A>G (p.His124Arg) variant DOID:0110082 arrhythmogenic right ventricular dysplasia 11 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 11 PMID:25741868|PMID:28492532 10054853 CV197952 NM_024422.6(DSC2):c.631-13dup variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10054853 CV197952 NM_024422.6(DSC2):c.631-13dup variant DOID:0110082 arrhythmogenic right ventricular dysplasia 11 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 11 PMID:25741868|PMID:28492532 10054854 CV197944 NM_024422.6(DSC2):c.1510A>G (p.Ser504Gly) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10054854 CV197944 NM_024422.6(DSC2):c.1510A>G (p.Ser504Gly) variant DOID:0110082 arrhythmogenic right ventricular dysplasia 11 IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 11 PMID:25741868|PMID:28492532 10054855 CV197940 NM_024422.6(DSC2):c.2033C>T (p.Thr678Ile) variant DOID:0050431 arrhythmogenic right ventricular cardiomyopathy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia PMID:25741868|PMID:28492532 10054855 CV197940 NM_024422.6(DSC2):c.2033C>T (p.Thr678Ile) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10054855 CV197940 NM_024422.6(DSC2):c.2033C>T (p.Thr678Ile) variant DOID:0110082 arrhythmogenic right ventricular dysplasia 11 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 11 PMID:25741868|PMID:28492532 10054856 CV197961 NM_024422.6(DSC2):c.23G>T (p.Gly8Val) variant DOID:0050431 arrhythmogenic right ventricular cardiomyopathy IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia PMID:24033266|PMID:24704780|PMID:25741868|PMID:28492532|PMID:29970176|PMID:30847666|PMID:32009526|PMID:35470680|PMID:37937776 10054856 CV197961 NM_024422.6(DSC2):c.23G>T (p.Gly8Val) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:24033266|PMID:24704780|PMID:25741868|PMID:28492532|PMID:29970176|PMID:30847666|PMID:32009526|PMID:35470680|PMID:37937776 10054856 CV197961 NM_024422.6(DSC2):c.23G>T (p.Gly8Val) variant DOID:0110082 arrhythmogenic right ventricular dysplasia 11 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11 PMID:24033266|PMID:24704780|PMID:25741868|PMID:28492532|PMID:29970176|PMID:30847666|PMID:32009526|PMID:35470680|PMID:37937776 10054857 CV197960 NM_024422.6(DSC2):c.26C>G (p.Ser9Cys) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868 10054859 CV197954 NM_024422.6(DSC2):c.536A>G (p.Asp179Gly) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:20197793|PMID:25741868|PMID:26310507|PMID:29038103 10054861 CV197951 NM_024422.6(DSC2):c.745A>C (p.Thr249Pro) variant DOID:0050431 arrhythmogenic right ventricular cardiomyopathy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia PMID:25741868|PMID:28492532 10054861 CV197951 NM_024422.6(DSC2):c.745A>C (p.Thr249Pro) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10054861 CV197951 NM_024422.6(DSC2):c.745A>C (p.Thr249Pro) variant DOID:0110082 arrhythmogenic right ventricular dysplasia 11 IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 11 PMID:25741868|PMID:28492532 10054862 CV197950 NM_024422.6(DSC2):c.901A>G (p.Thr301Ala) variant DOID:0050431 arrhythmogenic right ventricular cardiomyopathy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia PMID:25741868|PMID:28492532 10054862 CV197950 NM_024422.6(DSC2):c.901A>G (p.Thr301Ala) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10054862 CV197950 NM_024422.6(DSC2):c.901A>G (p.Thr301Ala) variant DOID:0110082 arrhythmogenic right ventricular dysplasia 11 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 11 PMID:25741868|PMID:28492532 10054863 CV197949 NM_024422.6(DSC2):c.994T>C (p.Tyr332His) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868 10054864 CV197947 NM_024422.6(DSC2):c.1231A>G (p.Lys411Glu) variant DOID:0050431 arrhythmogenic right ventricular cardiomyopathy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia PMID:25741868|PMID:28492532 10054864 CV197947 NM_024422.6(DSC2):c.1231A>G (p.Lys411Glu) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10054864 CV197947 NM_024422.6(DSC2):c.1231A>G (p.Lys411Glu) variant DOID:0110082 arrhythmogenic right ventricular dysplasia 11 IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 11 PMID:25741868|PMID:28492532 10054865 CV197945 NM_024422.6(DSC2):c.1352C>T (p.Ser451Leu) variant DOID:0110082 arrhythmogenic right ventricular dysplasia 11 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 11 PMID:28492532 10054866 CV197943 NM_024422.6(DSC2):c.1521-13T>A variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868 10054868 CV197938 NM_024422.6(DSC2):c.2147G>C (p.Cys716Ser) variant DOID:0050431 arrhythmogenic right ventricular cardiomyopathy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia PMID:25741868|PMID:28492532 10054868 CV197938 NM_024422.6(DSC2):c.2147G>C (p.Cys716Ser) variant DOID:0110082 arrhythmogenic right ventricular dysplasia 11 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 11 PMID:25741868|PMID:28492532 10054869 CV197937 NM_024422.6(DSC2):c.2245A>C (p.Lys749Gln) variant DOID:0050431 arrhythmogenic right ventricular cardiomyopathy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia PMID:25741868|PMID:28492532|PMID:30122538 10054869 CV197937 NM_024422.6(DSC2):c.2245A>C (p.Lys749Gln) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:25741868|PMID:28492532|PMID:30122538 10054869 CV197937 NM_024422.6(DSC2):c.2245A>C (p.Lys749Gln) variant DOID:0110082 arrhythmogenic right ventricular dysplasia 11 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 11 PMID:25741868|PMID:28492532|PMID:30122538 10054870 CV197936 NM_024422.6(DSC2):c.2298G>C (p.Gln766His) variant DOID:0050431 arrhythmogenic right ventricular cardiomyopathy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia PMID:25741868|PMID:25819062|PMID:28492532|PMID:30847666 10054870 CV197936 NM_024422.6(DSC2):c.2298G>C (p.Gln766His) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:25741868|PMID:25819062|PMID:28492532|PMID:30847666 10054870 CV197936 NM_024422.6(DSC2):c.2298G>C (p.Gln766His) variant DOID:0110082 arrhythmogenic right ventricular dysplasia 11 IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 11 PMID:25741868|PMID:25819062|PMID:28492532|PMID:30847666 10054871 CV197935 NM_024422.6(DSC2):c.2318G>C (p.Gly773Ala) variant DOID:0050431 arrhythmogenic right ventricular cardiomyopathy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia PMID:25741868|PMID:28492532 10054871 CV197935 NM_024422.6(DSC2):c.2318G>C (p.Gly773Ala) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10054871 CV197935 NM_024422.6(DSC2):c.2318G>C (p.Gly773Ala) variant DOID:0110082 arrhythmogenic right ventricular dysplasia 11 IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 11 PMID:25741868|PMID:28492532 10054872 CV197934 NM_024422.6(DSC2):c.2396G>A (p.Gly799Glu) variant DOID:0050431 arrhythmogenic right ventricular cardiomyopathy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia PMID:25741868|PMID:27532257|PMID:28492532 10054872 CV197934 NM_024422.6(DSC2):c.2396G>A (p.Gly799Glu) variant DOID:0110082 arrhythmogenic right ventricular dysplasia 11 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 11 PMID:25741868|PMID:27532257|PMID:28492532 10054873 CV197929 NM_024422.6(DSC2):c.2636A>G (p.Asp879Gly) variant DOID:0050431 arrhythmogenic right ventricular cardiomyopathy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia PMID:21636032|PMID:24033266|PMID:25516398|PMID:25741868|PMID:28492532 10054873 CV197929 NM_024422.6(DSC2):c.2636A>G (p.Asp879Gly) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:21636032|PMID:24033266|PMID:25516398|PMID:25741868|PMID:28492532 10054873 CV197929 NM_024422.6(DSC2):c.2636A>G (p.Asp879Gly) variant DOID:0110082 arrhythmogenic right ventricular dysplasia 11 IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11 PMID:21636032|PMID:24033266|PMID:25516398|PMID:25741868|PMID:28492532 10054874 CV197962 NM_024422.6(DSC2):c.4G>A (p.Glu2Lys) variant DOID:0050431 arrhythmogenic right ventricular cardiomyopathy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia PMID:20864495|PMID:25741868|PMID:26264440|PMID:28471438|PMID:28492532 10054874 CV197962 NM_024422.6(DSC2):c.4G>A (p.Glu2Lys) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:20864495|PMID:25741868|PMID:26264440|PMID:28471438|PMID:28492532 10054874 CV197962 NM_024422.6(DSC2):c.4G>A (p.Glu2Lys) variant DOID:0110082 arrhythmogenic right ventricular dysplasia 11 IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 11 PMID:20864495|PMID:25741868|PMID:26264440|PMID:28471438|PMID:28492532 10054875 CV197959 NM_024422.6(DSC2):c.34G>A (p.Gly12Arg) variant DOID:0050431 arrhythmogenic right ventricular cardiomyopathy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia PMID:21636032|PMID:25351510|PMID:25741868|PMID:28492532 10054875 CV197959 NM_024422.6(DSC2):c.34G>A (p.Gly12Arg) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:21636032|PMID:25351510|PMID:25741868|PMID:28492532 10054875 CV197959 NM_024422.6(DSC2):c.34G>A (p.Gly12Arg) variant DOID:0110082 arrhythmogenic right ventricular dysplasia 11 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 11 PMID:21636032|PMID:25351510|PMID:25741868|PMID:28492532 10054876 CV197939 NM_024422.6(DSC2):c.2125+1del variant DOID:0110082 arrhythmogenic right ventricular dysplasia 11 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 11 PMID:16199547|PMID:23911551|PMID:24033266|PMID:25741868|PMID:28153106|PMID:28492532|PMID:31931689|PMID:33662488 10054876 CV197939 NM_024422.6(DSC2):c.2125+1del variant DOID:0110425 dilated cardiomyopathy 1A IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:16199547|PMID:23911551|PMID:24033266|PMID:25741868|PMID:28153106|PMID:28492532|PMID:31931689|PMID:33662488 10054877 CV197933 NM_024422.6(DSC2):c.2487del (p.Phe829fs) variant DOID:0110082 arrhythmogenic right ventricular dysplasia 11 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 11 PMID:28492532 10054879 CV197957 NM_024422.6(DSC2):c.370C>T (p.His124Tyr) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20200407 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 10054879 CV197957 NM_024422.6(DSC2):c.370C>T (p.His124Tyr) variant DOID:0110082 arrhythmogenic right ventricular dysplasia 11 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11 PMID:24033266|PMID:25741868|PMID:28492532 10054880 CV197948 NM_024422.6(DSC2):c.1123C>G (p.Arg375Gly) variant DOID:0050431 arrhythmogenic right ventricular cardiomyopathy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia PMID:25741868|PMID:28492532 10054880 CV197948 NM_024422.6(DSC2):c.1123C>G (p.Arg375Gly) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10054880 CV197948 NM_024422.6(DSC2):c.1123C>G (p.Arg375Gly) variant DOID:0110082 arrhythmogenic right ventricular dysplasia 11 IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 11 PMID:25741868|PMID:28492532 10054881 CV197946 NM_024422.6(DSC2):c.1276G>A (p.Glu426Lys) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24585727|PMID:25741868|PMID:25820315|PMID:28588093 10054882 CV197941 NM_024422.6(DSC2):c.1789G>T (p.Val597Phe) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25447171|PMID:25741868|PMID:28492532 10054882 CV197941 NM_024422.6(DSC2):c.1789G>T (p.Val597Phe) variant DOID:0110082 arrhythmogenic right ventricular dysplasia 11 IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11 PMID:25447171|PMID:25741868|PMID:28492532 10054883 CV197931 NM_024422.6(DSC2):c.2576A>G (p.Tyr859Cys) variant DOID:0050431 arrhythmogenic right ventricular cardiomyopathy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia PMID:25741868|PMID:28492532 10054883 CV197931 NM_024422.6(DSC2):c.2576A>G (p.Tyr859Cys) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10054883 CV197931 NM_024422.6(DSC2):c.2576A>G (p.Tyr859Cys) variant DOID:0110082 arrhythmogenic right ventricular dysplasia 11 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 11 PMID:25741868|PMID:28492532 10054886 CV197982 NM_001943.5(DSG2):c.1463A>G (p.Asn488Ser) variant DOID:0110081 arrhythmogenic right ventricular dysplasia 10 IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 10 PMID:28492532 10054889 CV197992 NM_001943.5(DSG2):c.2112T>G (p.Ile704Met) variant DOID:0110081 arrhythmogenic right ventricular dysplasia 10 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 10 PMID:28492532 10054890 CV198002 NM_001943.5(DSG2):c.2750C>T (p.Ala917Val) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10054890 CV198002 NM_001943.5(DSG2):c.2750C>T (p.Ala917Val) variant DOID:0110081 arrhythmogenic right ventricular dysplasia 10 IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 10 PMID:25741868|PMID:28492532 10054891 CV198004 NM_001943.5(DSG2):c.2880C>G (p.Ser960Arg) variant DOID:0050431 arrhythmogenic right ventricular cardiomyopathy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:25741868|PMID:28492532 10054891 CV198004 NM_001943.5(DSG2):c.2880C>G (p.Ser960Arg) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10054891 CV198004 NM_001943.5(DSG2):c.2880C>G (p.Ser960Arg) variant DOID:0110081 arrhythmogenic right ventricular dysplasia 10 IAGP D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 10 PMID:25741868|PMID:28492532 10054891 CV198004 NM_001943.5(DSG2):c.2880C>G (p.Ser960Arg) variant DOID:0110458 dilated cardiomyopathy 1BB IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: DSG2-related condition PMID:25741868|PMID:28492532 10054892 CV198008 NM_001943.5(DSG2):c.3118G>A (p.Val1040Ile) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:25741868|PMID:27135274|PMID:28492532|PMID:29178656 10054892 CV198008 NM_001943.5(DSG2):c.3118G>A (p.Val1040Ile) variant DOID:0110081 arrhythmogenic right ventricular dysplasia 10 IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 10 PMID:25741868|PMID:27135274|PMID:28492532|PMID:29178656 10054893 CV197964 NM_001943.5(DSG2):c.98A>G (p.Asn33Ser) variant DOID:0050431 arrhythmogenic right ventricular cardiomyopathy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:25741868|PMID:27532257|PMID:28492532|PMID:31983221 10054893 CV197964 NM_001943.5(DSG2):c.98A>G (p.Asn33Ser) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:25741868|PMID:27532257|PMID:28492532|PMID:31983221 10054893 CV197964 NM_001943.5(DSG2):c.98A>G (p.Asn33Ser) variant DOID:0110081 arrhythmogenic right ventricular dysplasia 10 IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 10 PMID:25741868|PMID:27532257|PMID:28492532|PMID:31983221 10054895 CV197966 NM_001943.5(DSG2):c.216+3A>C variant DOID:0050431 arrhythmogenic right ventricular cardiomyopathy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 10054895 CV197966 NM_001943.5(DSG2):c.216+3A>C variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 10054895 CV197966 NM_001943.5(DSG2):c.216+3A>C variant DOID:0110081 arrhythmogenic right ventricular dysplasia 10 IAGP D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 10 PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 10054895 CV197966 NM_001943.5(DSG2):c.216+3A>C variant DOID:0110458 dilated cardiomyopathy 1BB IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1BB PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 10054896 CV197967 NM_001943.5(DSG2):c.220C>A (p.His74Asn) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868 10054898 CV197972 NM_001943.5(DSG2):c.769C>T (p.Gln257Ter) variant DOID:0110081 arrhythmogenic right ventricular dysplasia 10 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 10 PMID:25741868 10054899 CV198006 NM_001943.5(DSG2):c.2923del (p.Leu974_Val975insTer) variant DOID:0050431 arrhythmogenic right ventricular cardiomyopathy IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:20864495|PMID:21397041|PMID:23381804|PMID:25741868|PMID:28492532|PMID:33684294 10054899 CV198006 NM_001943.5(DSG2):c.2923del (p.Leu974_Val975insTer) variant DOID:0110081 arrhythmogenic right ventricular dysplasia 10 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10 PMID:20864495|PMID:21397041|PMID:23381804|PMID:25741868|PMID:28492532|PMID:33684294 10054899 CV198006 NM_001943.5(DSG2):c.2923del (p.Leu974_Val975insTer) variant DOID:0110458 dilated cardiomyopathy 1BB IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1BB PMID:20864495|PMID:21397041|PMID:23381804|PMID:25741868|PMID:28492532|PMID:33684294 10054900 CV197975 NM_001943.5(DSG2):c.875G>T (p.Arg292Leu) variant DOID:0110081 arrhythmogenic right ventricular dysplasia 10 IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 10 PMID:28492532 10054901 CV197976 NM_001943.5(DSG2):c.880A>G (p.Lys294Glu) variant DOID:0050431 arrhythmogenic right ventricular cardiomyopathy IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:16505173|PMID:23071725|PMID:24033266|PMID:24070718|PMID:25741868|PMID:26138720|PMID:26272908|PMID:28492532|PMID:30847666|PMID:30885746|PMID:33762593|PMID:34036930|PMID:35653365 10054901 CV197976 NM_001943.5(DSG2):c.880A>G (p.Lys294Glu) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:16505173|PMID:23071725|PMID:24033266|PMID:24070718|PMID:25741868|PMID:26138720|PMID:26272908|PMID:28492532|PMID:30847666|PMID:30885746|PMID:33762593|PMID:34036930|PMID:35653365 10054901 CV197976 NM_001943.5(DSG2):c.880A>G (p.Lys294Glu) variant DOID:0110081 arrhythmogenic right ventricular dysplasia 10 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 10 PMID:16505173|PMID:23071725|PMID:24033266|PMID:24070718|PMID:25741868|PMID:26138720|PMID:26272908|PMID:28492532|PMID:30847666|PMID:30885746|PMID:33762593|PMID:34036930|PMID:35653365 10054902 CV197977 NM_001943.5(DSG2):c.889G>A (p.Asp297Asn) variant DOID:0050431 arrhythmogenic right ventricular cardiomyopathy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:20031616|PMID:20857253|PMID:21606396|PMID:25741868|PMID:25820315|PMID:28492532|PMID:28588093|PMID:30847666 10054902 CV197977 NM_001943.5(DSG2):c.889G>A (p.Asp297Asn) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:20031616|PMID:20857253|PMID:21606396|PMID:25741868|PMID:25820315|PMID:28492532|PMID:28588093|PMID:30847666 10054902 CV197977 NM_001943.5(DSG2):c.889G>A (p.Asp297Asn) variant DOID:0110081 arrhythmogenic right ventricular dysplasia 10 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 10 PMID:20031616|PMID:20857253|PMID:21606396|PMID:25741868|PMID:25820315|PMID:28492532|PMID:28588093|PMID:30847666 10054903 CV197979 NM_001943.5(DSG2):c.1072G>A (p.Ala358Thr) variant DOID:0050431 arrhythmogenic right ventricular cardiomyopathy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:21606396|PMID:21636032|PMID:23178689|PMID:23889974|PMID:25741868|PMID:25820315|PMID:28492532|PMID:29016939|PMID:34998950 10054903 CV197979 NM_001943.5(DSG2):c.1072G>A (p.Ala358Thr) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:21606396|PMID:21636032|PMID:23178689|PMID:23889974|PMID:25741868|PMID:25820315|PMID:28492532|PMID:29016939|PMID:34998950 10054903 CV197979 NM_001943.5(DSG2):c.1072G>A (p.Ala358Thr) variant DOID:0110081 arrhythmogenic right ventricular dysplasia 10 IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 10 PMID:21606396|PMID:21636032|PMID:23178689|PMID:23889974|PMID:25741868|PMID:25820315|PMID:28492532|PMID:29016939|PMID:34998950 10054903 CV197979 NM_001943.5(DSG2):c.1072G>A (p.Ala358Thr) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:21606396|PMID:21636032|PMID:23178689|PMID:23889974|PMID:25741868|PMID:25820315|PMID:28492532|PMID:29016939|PMID:34998950 10054904 CV197980 NM_001943.5(DSG2):c.1130T>A (p.Val377Asp) variant DOID:0110081 arrhythmogenic right ventricular dysplasia 10 IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 10 PMID:28492532 10054905 CV197981 NM_001943.5(DSG2):c.1195G>A (p.Glu399Lys) variant DOID:0050431 arrhythmogenic right ventricular cardiomyopathy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:25741868|PMID:28492532|PMID:32826072 10054905 CV197981 NM_001943.5(DSG2):c.1195G>A (p.Glu399Lys) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:25741868|PMID:28492532|PMID:32826072 10054905 CV197981 NM_001943.5(DSG2):c.1195G>A (p.Glu399Lys) variant DOID:0110081 arrhythmogenic right ventricular dysplasia 10 IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10 PMID:25741868|PMID:28492532|PMID:32826072 10054906 CV197983 NM_001943.5(DSG2):c.1481A>C (p.Asp494Ala) variant DOID:0050431 arrhythmogenic right ventricular cardiomyopathy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy PMID:23514727|PMID:25741868|PMID:28492532|PMID:29178656|PMID:30996762 10054906 CV197983 NM_001943.5(DSG2):c.1481A>C (p.Asp494Ala) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:23514727|PMID:25741868|PMID:28492532|PMID:29178656|PMID:30996762 10054906 CV197983 NM_001943.5(DSG2):c.1481A>C (p.Asp494Ala) variant DOID:0110081 arrhythmogenic right ventricular dysplasia 10 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 10 PMID:23514727|PMID:25741868|PMID:28492532|PMID:29178656|PMID:30996762 10054906 CV197983 NM_001943.5(DSG2):c.1481A>C (p.Asp494Ala) variant DOID:0110458 dilated cardiomyopathy 1BB IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1BB PMID:23514727|PMID:25741868|PMID:28492532|PMID:29178656|PMID:30996762 10054907 CV197984 NM_001943.5(DSG2):c.1555G>T (p.Asp519Tyr) variant DOID:0050431 arrhythmogenic right ventricular cardiomyopathy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:25741868|PMID:28492532 10054907 CV197984 NM_001943.5(DSG2):c.1555G>T (p.Asp519Tyr) variant DOID:0110081 arrhythmogenic right ventricular dysplasia 10 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 10 PMID:25741868|PMID:28492532 10054907 CV197984 NM_001943.5(DSG2):c.1555G>T (p.Asp519Tyr) variant DOID:0110458 dilated cardiomyopathy 1BB IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1BB PMID:25741868|PMID:28492532 10054908 CV197986 NM_001943.5(DSG2):c.1750C>T (p.Gln584Ter) variant DOID:0050431 arrhythmogenic right ventricular cardiomyopathy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy PMID:17105751|PMID:25741868|PMID:28492532|PMID:31386562 10054908 CV197986 NM_001943.5(DSG2):c.1750C>T (p.Gln584Ter) variant DOID:0110081 arrhythmogenic right ventricular dysplasia 10 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 10 PMID:17105751|PMID:25741868|PMID:28492532|PMID:31386562 10054909 CV197987 NM_001943.5(DSG2):c.1795T>C (p.Cys599Arg) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10054909 CV197987 NM_001943.5(DSG2):c.1795T>C (p.Cys599Arg) variant DOID:0110081 arrhythmogenic right ventricular dysplasia 10 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 10 PMID:25741868|PMID:28492532 10054910 CV197989 NM_001943.5(DSG2):c.1843A>G (p.Ile615Val) variant DOID:0050431 arrhythmogenic right ventricular cardiomyopathy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:25741868|PMID:28492532 10054910 CV197989 NM_001943.5(DSG2):c.1843A>G (p.Ile615Val) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10054910 CV197989 NM_001943.5(DSG2):c.1843A>G (p.Ile615Val) variant DOID:0110081 arrhythmogenic right ventricular dysplasia 10 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 10 PMID:25741868|PMID:28492532 10054911 CV197990 NM_001943.5(DSG2):c.1885C>T (p.Pro629Ser) variant DOID:0050431 arrhythmogenic right ventricular cardiomyopathy IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:23071725|PMID:25741868|PMID:28492532|PMID:29773157|PMID:30847666|PMID:31983221|PMID:32826072|PMID:33652588 10054911 CV197990 NM_001943.5(DSG2):c.1885C>T (p.Pro629Ser) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:23071725|PMID:25741868|PMID:28492532|PMID:29773157|PMID:30847666|PMID:31983221|PMID:32826072|PMID:33652588 10054911 CV197990 NM_001943.5(DSG2):c.1885C>T (p.Pro629Ser) variant DOID:0110081 arrhythmogenic right ventricular dysplasia 10 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 10 PMID:23071725|PMID:25741868|PMID:28492532|PMID:29773157|PMID:30847666|PMID:31983221|PMID:32826072|PMID:33652588 10054912 CV197991 NM_001943.5(DSG2):c.1959G>A (p.Met653Ile) variant DOID:0050431 arrhythmogenic right ventricular cardiomyopathy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:25741868|PMID:28492532 10054912 CV197991 NM_001943.5(DSG2):c.1959G>A (p.Met653Ile) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10054912 CV197991 NM_001943.5(DSG2):c.1959G>A (p.Met653Ile) variant DOID:0110081 arrhythmogenic right ventricular dysplasia 10 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 10 PMID:25741868|PMID:28492532 10054914 CV197997 NM_001943.5(DSG2):c.2399C>G (p.Ser800Cys) variant DOID:0050431 arrhythmogenic right ventricular cardiomyopathy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:25741868|PMID:28492532|PMID:28588093 10054914 CV197997 NM_001943.5(DSG2):c.2399C>G (p.Ser800Cys) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:25741868|PMID:28492532|PMID:28588093 10054914 CV197997 NM_001943.5(DSG2):c.2399C>G (p.Ser800Cys) variant DOID:0110081 arrhythmogenic right ventricular dysplasia 10 IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 10 PMID:25741868|PMID:28492532|PMID:28588093 10054915 CV197998 NM_001943.5(DSG2):c.2434G>A (p.Gly812Ser) variant DOID:0050431 arrhythmogenic right ventricular cardiomyopathy IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:16773573|PMID:20031617|PMID:20708101|PMID:24055113|PMID:25213555|PMID:25741868|PMID:26633542|PMID:27532257|PMID:28454995|PMID:28492532|PMID:28567303|PMID:30847666|PMID:32114801|PMID:32516855|PMID:34426522|PMID:36621286 10054915 CV197998 NM_001943.5(DSG2):c.2434G>A (p.Gly812Ser) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:16773573|PMID:20031617|PMID:20708101|PMID:24055113|PMID:25213555|PMID:25741868|PMID:26633542|PMID:27532257|PMID:28454995|PMID:28492532|PMID:28567303|PMID:30847666|PMID:32114801|PMID:32516855|PMID:34426522|PMID:36621286 10054915 CV197998 NM_001943.5(DSG2):c.2434G>A (p.Gly812Ser) variant DOID:0110081 arrhythmogenic right ventricular dysplasia 10 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 10 PMID:16773573|PMID:20031617|PMID:20708101|PMID:24055113|PMID:25213555|PMID:25741868|PMID:26633542|PMID:27532257|PMID:28454995|PMID:28492532|PMID:28567303|PMID:30847666|PMID:32114801|PMID:32516855|PMID:34426522|PMID:36621286 10054915 CV197998 NM_001943.5(DSG2):c.2434G>A (p.Gly812Ser) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:16773573|PMID:20031617|PMID:20708101|PMID:24055113|PMID:25213555|PMID:25741868|PMID:26633542|PMID:27532257|PMID:28454995|PMID:28492532|PMID:28567303|PMID:30847666|PMID:32114801|PMID:32516855|PMID:34426522|PMID:36621286 10054916 CV198001 NM_001943.5(DSG2):c.2690C>A (p.Ala897Asp) variant DOID:0050431 arrhythmogenic right ventricular cardiomyopathy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:25741868|PMID:28492532 10054916 CV198001 NM_001943.5(DSG2):c.2690C>A (p.Ala897Asp) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10054916 CV198001 NM_001943.5(DSG2):c.2690C>A (p.Ala897Asp) variant DOID:0110081 arrhythmogenic right ventricular dysplasia 10 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 10 PMID:25741868|PMID:28492532 10054917 CV198003 NM_001943.5(DSG2):c.2780C>T (p.Pro927Leu) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:23514727|PMID:25741868|PMID:27005929|PMID:28492532|PMID:29178656|PMID:29802319 10054917 CV198003 NM_001943.5(DSG2):c.2780C>T (p.Pro927Leu) variant DOID:0110081 arrhythmogenic right ventricular dysplasia 10 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 10 PMID:23514727|PMID:25741868|PMID:27005929|PMID:28492532|PMID:29178656|PMID:29802319 10054918 CV198005 NM_001943.5(DSG2):c.2906C>T (p.Ala969Val) variant DOID:0050431 arrhythmogenic right ventricular cardiomyopathy IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, ARVC PMID:25351510|PMID:25741868|PMID:28492532|PMID:29396286|PMID:29606362 10054918 CV198005 NM_001943.5(DSG2):c.2906C>T (p.Ala969Val) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:25351510|PMID:25741868|PMID:28492532|PMID:29396286|PMID:29606362 10054918 CV198005 NM_001943.5(DSG2):c.2906C>T (p.Ala969Val) variant DOID:0110081 arrhythmogenic right ventricular dysplasia 10 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10 PMID:25351510|PMID:25741868|PMID:28492532|PMID:29396286|PMID:29606362 10054919 CV198009 NM_001943.5(DSG2):c.3167C>T (p.Thr1056Ile) variant DOID:0050431 arrhythmogenic right ventricular cardiomyopathy IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:18678517|PMID:21606390|PMID:23071725|PMID:24033266|PMID:25351510|PMID:25741868|PMID:26498160|PMID:28492532|PMID:28818065|PMID:31983221 10054919 CV198009 NM_001943.5(DSG2):c.3167C>T (p.Thr1056Ile) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:18678517|PMID:21606390|PMID:23071725|PMID:24033266|PMID:25351510|PMID:25741868|PMID:26498160|PMID:28492532|PMID:28818065|PMID:31983221 10054919 CV198009 NM_001943.5(DSG2):c.3167C>T (p.Thr1056Ile) variant DOID:0110081 arrhythmogenic right ventricular dysplasia 10 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 10 PMID:18678517|PMID:21606390|PMID:23071725|PMID:24033266|PMID:25351510|PMID:25741868|PMID:26498160|PMID:28492532|PMID:28818065|PMID:31983221 10054919 CV198009 NM_001943.5(DSG2):c.3167C>T (p.Thr1056Ile) variant DOID:0110458 dilated cardiomyopathy 1BB IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1BB PMID:18678517|PMID:21606390|PMID:23071725|PMID:24033266|PMID:25351510|PMID:25741868|PMID:26498160|PMID:28492532|PMID:28818065|PMID:31983221 10054920 CV197968 NM_001943.5(DSG2):c.464_465insT (p.Glu156fs) variant DOID:0050431 arrhythmogenic right ventricular cardiomyopathy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:17105751|PMID:25616645|PMID:25741868|PMID:28492532|PMID:31386562 10054920 CV197968 NM_001943.5(DSG2):c.464_465insT (p.Glu156fs) variant DOID:0110081 arrhythmogenic right ventricular dysplasia 10 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10 PMID:17105751|PMID:25616645|PMID:25741868|PMID:28492532|PMID:31386562 10054922 CV197973 NM_001943.5(DSG2):c.829_840del (p.Leu277_Met280del) variant DOID:0050431 arrhythmogenic right ventricular cardiomyopathy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:17105751|PMID:19279339|PMID:21606390|PMID:23671136|PMID:25741868|PMID:28492532|PMID:31402444|PMID:33087929 10054922 CV197973 NM_001943.5(DSG2):c.829_840del (p.Leu277_Met280del) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:17105751|PMID:19279339|PMID:21606390|PMID:23671136|PMID:25741868|PMID:28492532|PMID:31402444|PMID:33087929 10054922 CV197973 NM_001943.5(DSG2):c.829_840del (p.Leu277_Met280del) variant DOID:0110081 arrhythmogenic right ventricular dysplasia 10 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 10 PMID:17105751|PMID:19279339|PMID:21606390|PMID:23671136|PMID:25741868|PMID:28492532|PMID:31402444|PMID:33087929 10054923 CV197978 NM_001943.4(DSG2):c.1015del variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:17105751|PMID:25741868|PMID:28492532|PMID:31386562|PMID:31638835|PMID:33087929 10054923 CV197978 NM_001943.4(DSG2):c.1015del variant DOID:0110081 arrhythmogenic right ventricular dysplasia 10 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10 PMID:17105751|PMID:25741868|PMID:28492532|PMID:31386562|PMID:31638835|PMID:33087929 10054926 CV197969 NM_001943.5(DSG2):c.562G>A (p.Glu188Lys) variant DOID:0050431 arrhythmogenic right ventricular cardiomyopathy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:25741868|PMID:28492532 10054926 CV197969 NM_001943.5(DSG2):c.562G>A (p.Glu188Lys) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10054926 CV197969 NM_001943.5(DSG2):c.562G>A (p.Glu188Lys) variant DOID:0110081 arrhythmogenic right ventricular dysplasia 10 IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 10 PMID:25741868|PMID:28492532 10054927 CV197974 NM_001943.5(DSG2):c.862G>A (p.Val288Ile) variant DOID:0050431 arrhythmogenic right ventricular cardiomyopathy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:25741868|PMID:28492532|PMID:30847666|PMID:30985088|PMID:32880476|PMID:37477868 10054927 CV197974 NM_001943.5(DSG2):c.862G>A (p.Val288Ile) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532|PMID:30847666|PMID:30985088|PMID:32880476|PMID:37477868 10054927 CV197974 NM_001943.5(DSG2):c.862G>A (p.Val288Ile) variant DOID:0110081 arrhythmogenic right ventricular dysplasia 10 IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 10 PMID:25741868|PMID:28492532|PMID:30847666|PMID:30985088|PMID:32880476|PMID:37477868 10054928 CV197994 NM_001943.5(DSG2):c.2315T>G (p.Leu772Ter) variant DOID:0050431 arrhythmogenic right ventricular cardiomyopathy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy PMID:25741868 10054930 CV197995 NM_001943.5(DSG2):c.2360A>G (p.Asp787Gly) variant DOID:0050431 arrhythmogenic right ventricular cardiomyopathy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:25741868|PMID:28492532 10054930 CV197995 NM_001943.5(DSG2):c.2360A>G (p.Asp787Gly) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10054930 CV197995 NM_001943.5(DSG2):c.2360A>G (p.Asp787Gly) variant DOID:0110081 arrhythmogenic right ventricular dysplasia 10 IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 10 PMID:25741868|PMID:28492532 10054933 CV197020 NM_004415.4(DSP):c.237C>T (p.Ser79=) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10054933 CV197020 NM_004415.4(DSP):c.237C>T (p.Ser79=) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma PMID:25741868|PMID:28492532 10054933 CV197020 NM_004415.4(DSP):c.237C>T (p.Ser79=) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8 PMID:25741868|PMID:28492532 10054934 CV197039 NM_004415.4(DSP):c.1344G>A (p.Leu448=) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 10054934 CV197039 NM_004415.4(DSP):c.1344G>A (p.Leu448=) variant DOID:0070554 palmoplantar keratoderma and woolly hair IAGP D RGD:8554872 20230620 ClinVar ClinVar Annotator: match by term: Skin fragility woolly hair syndrome PMID:24033266|PMID:25741868|PMID:28492532 10054934 CV197039 NM_004415.4(DSP):c.1344G>A (p.Leu448=) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Carvajal syndrome PMID:24033266|PMID:25741868|PMID:28492532 10054934 CV197039 NM_004415.4(DSP):c.1344G>A (p.Leu448=) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8 PMID:24033266|PMID:25741868|PMID:28492532 10054934 CV197039 NM_004415.4(DSP):c.1344G>A (p.Leu448=) variant DOID:9002630 Epidermolysis Bullosa, Lethal Acantholytic IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Lethal acantholytic epidermolysis bullosa PMID:24033266|PMID:25741868|PMID:28492532 10054935 CV197060 NM_004415.4(DSP):c.3018A>G (p.Leu1006=) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10054935 CV197060 NM_004415.4(DSP):c.3018A>G (p.Leu1006=) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma PMID:25741868|PMID:28492532 10054935 CV197060 NM_004415.4(DSP):c.3018A>G (p.Leu1006=) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 8 PMID:25741868|PMID:28492532 10054936 CV197101 NM_004415.4(DSP):c.6192T>C (p.Asn2064=) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10054936 CV197101 NM_004415.4(DSP):c.6192T>C (p.Asn2064=) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma PMID:25741868|PMID:28492532 10054936 CV197101 NM_004415.4(DSP):c.6192T>C (p.Asn2064=) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 8 PMID:25741868|PMID:28492532 10054937 CV197753 NM_000138.5(FBN1):c.2678-12T>C variant DOID:0050475 Weill-Marchesani syndrome IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Weill-Marchesani syndrome PMID:25741868|PMID:28492532 10054937 CV197753 NM_000138.5(FBN1):c.2678-12T>C variant DOID:0111243 acromicric dysplasia IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Acromicric skeletal dysplasia PMID:25741868|PMID:28492532 10054937 CV197753 NM_000138.5(FBN1):c.2678-12T>C variant DOID:0111561 stiff skin syndrome IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Stiff skin syndrome PMID:25741868|PMID:28492532 10054937 CV197753 NM_000138.5(FBN1):c.2678-12T>C variant DOID:0111724 geleophysic dysplasia IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Geleophysic dysplasia PMID:25741868|PMID:28492532 10054937 CV197753 NM_000138.5(FBN1):c.2678-12T>C variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10054937 CV197753 NM_000138.5(FBN1):c.2678-12T>C variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868|PMID:28492532 10054937 CV197753 NM_000138.5(FBN1):c.2678-12T>C variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:25741868|PMID:28492532 10054938 CV197743 NM_000138.5(FBN1):c.2934C>G (p.Asp978Glu) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10054938 CV197743 NM_000138.5(FBN1):c.2934C>G (p.Asp978Glu) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20180807 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868|PMID:28492532 10054938 CV197743 NM_000138.5(FBN1):c.2934C>G (p.Asp978Glu) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:25741868|PMID:28492532 10054939 CV197739 NM_000138.5(FBN1):c.3077T>C (p.Phe1026Ser) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10054939 CV197739 NM_000138.5(FBN1):c.3077T>C (p.Phe1026Ser) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868|PMID:28492532 10054939 CV197739 NM_000138.5(FBN1):c.3077T>C (p.Phe1026Ser) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:25741868|PMID:28492532 10054941 CV197665 NM_000138.5(FBN1):c.5917+3A>G variant DOID:0050475 Weill-Marchesani syndrome IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Weill-Marchesani syndrome PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 10054941 CV197665 NM_000138.5(FBN1):c.5917+3A>G variant DOID:0111243 acromicric dysplasia IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Acromicric skeletal dysplasia PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 10054941 CV197665 NM_000138.5(FBN1):c.5917+3A>G variant DOID:0111561 stiff skin syndrome IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Stiff skin syndrome PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 10054941 CV197665 NM_000138.5(FBN1):c.5917+3A>G variant DOID:0111724 geleophysic dysplasia IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Geleophysic dysplasia PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 10054941 CV197665 NM_000138.5(FBN1):c.5917+3A>G variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 10054941 CV197665 NM_000138.5(FBN1):c.5917+3A>G variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 10054941 CV197665 NM_000138.5(FBN1):c.5917+3A>G variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 10054941 CV197665 NM_000138.5(FBN1):c.5917+3A>G variant DOID:9004201 Ectopia Lentis IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Ectopia lentis PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 10054941 CV197665 NM_000138.5(FBN1):c.5917+3A>G variant DOID:9007706 MASS Syndrome IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: MASS syndrome PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 10054942 CV197631 NM_000138.5(FBN1):c.6705A>C (p.Gly2235=) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and aortic dissections PMID:25741868|PMID:28492532 10054942 CV197631 NM_000138.5(FBN1):c.6705A>C (p.Gly2235=) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868|PMID:28492532 10054942 CV197631 NM_000138.5(FBN1):c.6705A>C (p.Gly2235=) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:25741868|PMID:28492532 10054943 CV197615 NM_000138.5(FBN1):c.7098C>T (p.Asp2366=) variant DOID:0050475 Weill-Marchesani syndrome IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Weill-Marchesani syndrome PMID:24033266|PMID:25741868|PMID:28492532 10054943 CV197615 NM_000138.5(FBN1):c.7098C>T (p.Asp2366=) variant DOID:0111150 autosomal dominant isolated ectopia lentis 1 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Ectopia lentis, isolated, autosomal dominant PMID:24033266|PMID:25741868|PMID:28492532 10054943 CV197615 NM_000138.5(FBN1):c.7098C>T (p.Asp2366=) variant DOID:0111243 acromicric dysplasia IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Acromicric dysplasia PMID:24033266|PMID:25741868|PMID:28492532 10054943 CV197615 NM_000138.5(FBN1):c.7098C>T (p.Asp2366=) variant DOID:0111561 stiff skin syndrome IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Stiff skin syndrome PMID:24033266|PMID:25741868|PMID:28492532 10054943 CV197615 NM_000138.5(FBN1):c.7098C>T (p.Asp2366=) variant DOID:0111724 geleophysic dysplasia IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Geleophysic dysplasia PMID:24033266|PMID:25741868|PMID:28492532 10054943 CV197615 NM_000138.5(FBN1):c.7098C>T (p.Asp2366=) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and aortic dissections PMID:24033266|PMID:25741868|PMID:28492532 10054943 CV197615 NM_000138.5(FBN1):c.7098C>T (p.Asp2366=) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:24033266|PMID:25741868|PMID:28492532 10054943 CV197615 NM_000138.5(FBN1):c.7098C>T (p.Asp2366=) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:24033266|PMID:25741868|PMID:28492532 10054944 CV197604 NM_000138.5(FBN1):c.7499G>A (p.Cys2500Tyr) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:11875032|PMID:16222657|PMID:16571647|PMID:16905551|PMID:17701892|PMID:19349279|PMID:28492532 10054945 CV197581 NM_000138.5(FBN1):c.8185A>C (p.Lys2729Gln) variant DOID:0050475 Weill-Marchesani syndrome IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Weill-Marchesani syndrome PMID:25741868|PMID:28492532 10054945 CV197581 NM_000138.5(FBN1):c.8185A>C (p.Lys2729Gln) variant DOID:0111150 autosomal dominant isolated ectopia lentis 1 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Ectopia lentis, isolated, autosomal dominant PMID:25741868|PMID:28492532 10054945 CV197581 NM_000138.5(FBN1):c.8185A>C (p.Lys2729Gln) variant DOID:0111243 acromicric dysplasia IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Acromicric dysplasia PMID:25741868|PMID:28492532 10054945 CV197581 NM_000138.5(FBN1):c.8185A>C (p.Lys2729Gln) variant DOID:0111561 stiff skin syndrome IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Stiff skin syndrome PMID:25741868|PMID:28492532 10054945 CV197581 NM_000138.5(FBN1):c.8185A>C (p.Lys2729Gln) variant DOID:0111724 geleophysic dysplasia IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Geleophysic dysplasia PMID:25741868|PMID:28492532 10054945 CV197581 NM_000138.5(FBN1):c.8185A>C (p.Lys2729Gln) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and aortic dissections PMID:25741868|PMID:28492532 10054945 CV197581 NM_000138.5(FBN1):c.8185A>C (p.Lys2729Gln) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868|PMID:28492532 10054945 CV197581 NM_000138.5(FBN1):c.8185A>C (p.Lys2729Gln) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:25741868|PMID:28492532 10054947 CV197817 NM_000138.5(FBN1):c.640G>A (p.Gly214Ser) variant DOID:0070234 Loeys-Dietz syndrome 2 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections PMID:12938084|PMID:15733436|PMID:17657824|PMID:18435798|PMID:19293843|PMID:22262941|PMID:22772377|PMID:25741868|PMID:26787436|PMID:27611364|PMID:28492532|PMID:30341550|PMID:30675029 10054947 CV197817 NM_000138.5(FBN1):c.640G>A (p.Gly214Ser) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:12938084|PMID:15733436|PMID:17657824|PMID:18435798|PMID:19293843|PMID:22262941|PMID:22772377|PMID:25741868|PMID:26787436|PMID:27611364|PMID:28492532|PMID:30341550|PMID:30675029 10054947 CV197817 NM_000138.5(FBN1):c.640G>A (p.Gly214Ser) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:12938084|PMID:15733436|PMID:17657824|PMID:18435798|PMID:19293843|PMID:22262941|PMID:22772377|PMID:25741868|PMID:26787436|PMID:27611364|PMID:28492532|PMID:30341550|PMID:30675029 10054947 CV197817 NM_000138.5(FBN1):c.640G>A (p.Gly214Ser) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:12938084|PMID:15733436|PMID:17657824|PMID:18435798|PMID:19293843|PMID:22262941|PMID:22772377|PMID:25741868|PMID:26787436|PMID:27611364|PMID:28492532|PMID:30341550|PMID:30675029 10054948 CV197815 NM_000138.5(FBN1):c.722C>T (p.Thr241Met) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10054948 CV197815 NM_000138.5(FBN1):c.722C>T (p.Thr241Met) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868|PMID:28492532 10054948 CV197815 NM_000138.5(FBN1):c.722C>T (p.Thr241Met) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:25741868|PMID:28492532 10054950 CV197812 NM_000138.5(FBN1):c.814A>C (p.Lys272Gln) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532|PMID:30739908 10054950 CV197812 NM_000138.5(FBN1):c.814A>C (p.Lys272Gln) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868|PMID:28492532|PMID:30739908 10054950 CV197812 NM_000138.5(FBN1):c.814A>C (p.Lys272Gln) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:25741868|PMID:28492532|PMID:30739908 10054951 CV197811 NM_000138.5(FBN1):c.902G>T (p.Gly301Val) variant DOID:0050475 Weill-Marchesani syndrome IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Weill-Marchesani syndrome PMID:24033266|PMID:25613431|PMID:25741868|PMID:26188975|PMID:26787436|PMID:28492532|PMID:28655553 10054951 CV197811 NM_000138.5(FBN1):c.902G>T (p.Gly301Val) variant DOID:0111150 autosomal dominant isolated ectopia lentis 1 IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Ectopia lentis 1, isolated, autosomal dominant PMID:24033266|PMID:25613431|PMID:25741868|PMID:26188975|PMID:26787436|PMID:28492532|PMID:28655553 10054951 CV197811 NM_000138.5(FBN1):c.902G>T (p.Gly301Val) variant DOID:0111243 acromicric dysplasia IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Acromicric skeletal dysplasia PMID:24033266|PMID:25613431|PMID:25741868|PMID:26188975|PMID:26787436|PMID:28492532|PMID:28655553 10054951 CV197811 NM_000138.5(FBN1):c.902G>T (p.Gly301Val) variant DOID:0111561 stiff skin syndrome IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Stiff skin syndrome PMID:24033266|PMID:25613431|PMID:25741868|PMID:26188975|PMID:26787436|PMID:28492532|PMID:28655553 10054951 CV197811 NM_000138.5(FBN1):c.902G>T (p.Gly301Val) variant DOID:0111724 geleophysic dysplasia IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Geleophysic dysplasia PMID:24033266|PMID:25613431|PMID:25741868|PMID:26188975|PMID:26787436|PMID:28492532|PMID:28655553 10054951 CV197811 NM_000138.5(FBN1):c.902G>T (p.Gly301Val) variant DOID:0111726 geleophysic dysplasia 2 IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Geleophysic dysplasia 2 PMID:24033266|PMID:25613431|PMID:25741868|PMID:26188975|PMID:26787436|PMID:28492532|PMID:28655553 10054951 CV197811 NM_000138.5(FBN1):c.902G>T (p.Gly301Val) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:24033266|PMID:25613431|PMID:25741868|PMID:26188975|PMID:26787436|PMID:28492532|PMID:28655553 10054951 CV197811 NM_000138.5(FBN1):c.902G>T (p.Gly301Val) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:24033266|PMID:25613431|PMID:25741868|PMID:26188975|PMID:26787436|PMID:28492532|PMID:28655553 10054951 CV197811 NM_000138.5(FBN1):c.902G>T (p.Gly301Val) variant DOID:9001464 Weill-Marchesani Syndrome 2 IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Weill-Marchesani syndrome 2 PMID:24033266|PMID:25613431|PMID:25741868|PMID:26188975|PMID:26787436|PMID:28492532|PMID:28655553 10054951 CV197811 NM_000138.5(FBN1):c.902G>T (p.Gly301Val) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:24033266|PMID:25613431|PMID:25741868|PMID:26188975|PMID:26787436|PMID:28492532|PMID:28655553 10054951 CV197811 NM_000138.5(FBN1):c.902G>T (p.Gly301Val) variant DOID:9005492 Marfan Lipodystrophy Syndrome IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME PMID:24033266|PMID:25613431|PMID:25741868|PMID:26188975|PMID:26787436|PMID:28492532|PMID:28655553 10054951 CV197811 NM_000138.5(FBN1):c.902G>T (p.Gly301Val) variant DOID:9007706 MASS Syndrome IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: MASS PHENOTYPE PMID:24033266|PMID:25613431|PMID:25741868|PMID:26188975|PMID:26787436|PMID:28492532|PMID:28655553 10054952 CV197810 NM_000138.5(FBN1):c.1052A>G (p.Gln351Arg) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868|PMID:25944730 10054954 CV197808 NM_000138.5(FBN1):c.1090C>T (p.Arg364Ter) variant DOID:0070234 Loeys-Dietz syndrome 2 IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections PMID:12938084|PMID:17253931|PMID:17657824|PMID:17663468|PMID:19293843|PMID:20301510|PMID:25652356|PMID:25741868|PMID:27274304|PMID:28492532|PMID:28973303|PMID:29357934|PMID:29543232|PMID:30341550|PMID:31950671 10054954 CV197808 NM_000138.5(FBN1):c.1090C>T (p.Arg364Ter) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm PMID:12938084|PMID:17253931|PMID:17657824|PMID:17663468|PMID:19293843|PMID:20301510|PMID:25652356|PMID:25741868|PMID:27274304|PMID:28492532|PMID:28973303|PMID:29357934|PMID:29543232|PMID:30341550|PMID:31950671 10054954 CV197808 NM_000138.5(FBN1):c.1090C>T (p.Arg364Ter) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:12938084|PMID:17253931|PMID:17657824|PMID:17663468|PMID:19293843|PMID:20301510|PMID:25652356|PMID:25741868|PMID:27274304|PMID:28492532|PMID:28973303|PMID:29357934|PMID:29543232|PMID:30341550|PMID:31950671 10054954 CV197808 NM_000138.5(FBN1):c.1090C>T (p.Arg364Ter) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:12938084|PMID:17253931|PMID:17657824|PMID:17663468|PMID:19293843|PMID:20301510|PMID:25652356|PMID:25741868|PMID:27274304|PMID:28492532|PMID:28973303|PMID:29357934|PMID:29543232|PMID:30341550|PMID:31950671 10054955 CV197807 NM_000138.5(FBN1):c.1091G>C (p.Arg364Pro) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868 10054957 CV197802 NM_000138.5(FBN1):c.1286G>A (p.Arg429Gln) variant DOID:0111150 autosomal dominant isolated ectopia lentis 1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ectopia lentis, isolated, autosomal dominant PMID:25741868|PMID:28492532 10054957 CV197802 NM_000138.5(FBN1):c.1286G>A (p.Arg429Gln) variant DOID:0111243 acromicric dysplasia IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Acromicric skeletal dysplasia PMID:25741868|PMID:28492532 10054957 CV197802 NM_000138.5(FBN1):c.1286G>A (p.Arg429Gln) variant DOID:0111561 stiff skin syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Stiff skin syndrome PMID:25741868|PMID:28492532 10054957 CV197802 NM_000138.5(FBN1):c.1286G>A (p.Arg429Gln) variant DOID:0111726 geleophysic dysplasia 2 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Geleophysic dysplasia 2 PMID:25741868|PMID:28492532 10054957 CV197802 NM_000138.5(FBN1):c.1286G>A (p.Arg429Gln) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10054957 CV197802 NM_000138.5(FBN1):c.1286G>A (p.Arg429Gln) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868|PMID:28492532 10054957 CV197802 NM_000138.5(FBN1):c.1286G>A (p.Arg429Gln) variant DOID:9001464 Weill-Marchesani Syndrome 2 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Weill-Marchesani syndrome 2 PMID:25741868|PMID:28492532 10054957 CV197802 NM_000138.5(FBN1):c.1286G>A (p.Arg429Gln) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:25741868|PMID:28492532 10054957 CV197802 NM_000138.5(FBN1):c.1286G>A (p.Arg429Gln) variant DOID:9005492 Marfan Lipodystrophy Syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME PMID:25741868|PMID:28492532 10054957 CV197802 NM_000138.5(FBN1):c.1286G>A (p.Arg429Gln) variant DOID:9007706 MASS Syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Overlap connective tissue disease PMID:25741868|PMID:28492532 10054958 CV197800 NM_000138.5(FBN1):c.1421G>A (p.Cys474Tyr) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection PMID:16571647|PMID:16905551|PMID:17701892|PMID:19349279|PMID:21907952|PMID:27906200|PMID:28492532|PMID:29768367|PMID:39741318 10054958 CV197800 NM_000138.5(FBN1):c.1421G>A (p.Cys474Tyr) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:16571647|PMID:16905551|PMID:17701892|PMID:19349279|PMID:21907952|PMID:27906200|PMID:28492532|PMID:29768367|PMID:39741318 10054958 CV197800 NM_000138.5(FBN1):c.1421G>A (p.Cys474Tyr) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:16571647|PMID:16905551|PMID:17701892|PMID:19349279|PMID:21907952|PMID:27906200|PMID:28492532|PMID:29768367|PMID:39741318 10054959 CV197798 NM_000138.5(FBN1):c.1454G>T (p.Arg485Leu) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection PMID:25741868|PMID:28492532|PMID:38534782 10054959 CV197798 NM_000138.5(FBN1):c.1454G>T (p.Arg485Leu) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868|PMID:28492532|PMID:38534782 10054959 CV197798 NM_000138.5(FBN1):c.1454G>T (p.Arg485Leu) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:25741868|PMID:28492532|PMID:38534782 10054960 CV197797 NM_000138.5(FBN1):c.1468+2T>C variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:16199547|PMID:17657824|PMID:19293843|PMID:24161884|PMID:28492532 10054961 CV197796 NM_000138.5(FBN1):c.1552G>A (p.Gly518Arg) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:28492532 10054962 CV197795 NM_000138.5(FBN1):c.1553G>T (p.Gly518Val) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:28492532 10054964 CV197793 NM_000138.5(FBN1):c.1589A>G (p.Asp530Gly) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:28492532|PMID:31211624 10054965 CV197791 NM_000138.5(FBN1):c.1664G>T (p.Cys555Phe) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:16571647|PMID:16905551|PMID:17418587|PMID:17701892|PMID:19349279|PMID:28492532|PMID:32679894 10054966 CV197789 NM_000138.5(FBN1):c.1693C>T (p.Arg565Ter) variant DOID:0070234 Loeys-Dietz syndrome 2 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections PMID:10874320|PMID:16222657|PMID:17418587|PMID:17657824|PMID:19159394|PMID:19293843|PMID:19618372|PMID:21542060|PMID:25741868|PMID:27724990|PMID:28492532|PMID:31730815|PMID:33059708|PMID:34422331|PMID:34498425|PMID:34550612|PMID:35058154|PMID:37116669 10054966 CV197789 NM_000138.5(FBN1):c.1693C>T (p.Arg565Ter) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10874320|PMID:16222657|PMID:17418587|PMID:17657824|PMID:19159394|PMID:19293843|PMID:19618372|PMID:21542060|PMID:25741868|PMID:27724990|PMID:28492532|PMID:31730815|PMID:33059708|PMID:34422331|PMID:34498425|PMID:34550612|PMID:35058154|PMID:37116669 10054966 CV197789 NM_000138.5(FBN1):c.1693C>T (p.Arg565Ter) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:10874320|PMID:16222657|PMID:17418587|PMID:17657824|PMID:19159394|PMID:19293843|PMID:19618372|PMID:21542060|PMID:25741868|PMID:27724990|PMID:28492532|PMID:31730815|PMID:33059708|PMID:34422331|PMID:34498425|PMID:34550612|PMID:35058154|PMID:37116669 10054966 CV197789 NM_000138.5(FBN1):c.1693C>T (p.Arg565Ter) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:10874320|PMID:16222657|PMID:17418587|PMID:17657824|PMID:19159394|PMID:19293843|PMID:19618372|PMID:21542060|PMID:25741868|PMID:27724990|PMID:28492532|PMID:31730815|PMID:33059708|PMID:34422331|PMID:34498425|PMID:34550612|PMID:35058154|PMID:37116669 10054967 CV197788 NM_000138.5(FBN1):c.1694G>A (p.Arg565Gln) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10054967 CV197788 NM_000138.5(FBN1):c.1694G>A (p.Arg565Gln) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868|PMID:28492532 10054967 CV197788 NM_000138.5(FBN1):c.1694G>A (p.Arg565Gln) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:25741868|PMID:28492532 10054968 CV197787 NM_000138.5(FBN1):c.1726T>G (p.Cys576Gly) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:16571647|PMID:16905551|PMID:17701892|PMID:18435798|PMID:19349279|PMID:25652356|PMID:28492532 10054969 CV197786 NM_000138.5(FBN1):c.1759T>G (p.Cys587Gly) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:16571647|PMID:16905551|PMID:17701892|PMID:19349279|PMID:25101912|PMID:25652356|PMID:25741868|PMID:28492532 10054970 CV197785 NM_000138.5(FBN1):c.1817C>A (p.Ser606Ter) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868 10054970 CV197785 NM_000138.5(FBN1):c.1817C>A (p.Ser606Ter) variant DOID:520 aortic disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Familial aortopathy PMID:25741868 10054971 CV197778 NM_000138.5(FBN1):c.2055C>A (p.Cys685Ter) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:17657824|PMID:19293843|PMID:28492532 10054975 CV197781 NM_000138.5(FBN1):c.1914A>C (p.Glu638Asp) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868|PMID:28492532 10054976 CV197780 NM_000138.5(FBN1):c.1973G>A (p.Arg658Gln) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10054976 CV197780 NM_000138.5(FBN1):c.1973G>A (p.Arg658Gln) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Marfan's syndrome PMID:25741868|PMID:28492532 10054976 CV197780 NM_000138.5(FBN1):c.1973G>A (p.Arg658Gln) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:25741868|PMID:28492532 10054977 CV197779 NM_000138.5(FBN1):c.2022G>C (p.Leu674Phe) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:28492532 10054978 CV197776 NM_000138.5(FBN1):c.2071G>C (p.Ala691Pro) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:21270786|PMID:27981572|PMID:28492532 10054979 CV197775 NM_000138.5(FBN1):c.2126C>G (p.Ala709Gly) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10054979 CV197775 NM_000138.5(FBN1):c.2126C>G (p.Ala709Gly) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868|PMID:28492532 10054979 CV197775 NM_000138.5(FBN1):c.2126C>G (p.Ala709Gly) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:25741868|PMID:28492532 10054980 CV197774 NM_000138.5(FBN1):c.2147G>A (p.Gly716Glu) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868|PMID:28492532|PMID:31227806 10054981 CV197773 NM_000138.5(FBN1):c.2153C>T (p.Thr718Met) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10054981 CV197773 NM_000138.5(FBN1):c.2153C>T (p.Thr718Met) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868|PMID:28492532 10054981 CV197773 NM_000138.5(FBN1):c.2153C>T (p.Thr718Met) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:25741868|PMID:28492532 10054982 CV197771 NM_000138.5(FBN1):c.2180G>A (p.Cys727Tyr) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:10486319|PMID:16571647|PMID:16905551|PMID:17657824|PMID:17701892|PMID:19349279|PMID:20564469|PMID:25741868|PMID:28492532|PMID:31227806 10054983 CV197770 NM_000138.5(FBN1):c.2201G>T (p.Cys734Phe) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:12203992|PMID:16571647|PMID:16905551|PMID:17701892|PMID:19349279|PMID:21907952|PMID:28492532 10054984 CV197769 NM_000138.5(FBN1):c.2227C>T (p.Arg743Cys) variant DOID:0070234 Loeys-Dietz syndrome 2 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections PMID:25741868|PMID:29875124|PMID:31227806|PMID:32989268 10054984 CV197769 NM_000138.5(FBN1):c.2227C>T (p.Arg743Cys) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:29875124|PMID:31227806|PMID:32989268 10054984 CV197769 NM_000138.5(FBN1):c.2227C>T (p.Arg743Cys) variant DOID:65 connective tissue disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Connective tissue disease PMID:25741868|PMID:29875124|PMID:31227806|PMID:32989268 10054985 CV197766 NM_000138.5(FBN1):c.2303A>C (p.Glu768Ala) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:28492532 10054986 CV197765 NM_000138.5(FBN1):c.2306G>A (p.Cys769Tyr) variant DOID:0070234 Loeys-Dietz syndrome 2 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections PMID:16571647|PMID:16905551|PMID:17701892|PMID:19293843|PMID:19349279|PMID:20564469|PMID:24635535|PMID:25053872|PMID:28492532|PMID:29543232 10054986 CV197765 NM_000138.5(FBN1):c.2306G>A (p.Cys769Tyr) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection PMID:16571647|PMID:16905551|PMID:17701892|PMID:19293843|PMID:19349279|PMID:20564469|PMID:24635535|PMID:25053872|PMID:28492532|PMID:29543232 10054986 CV197765 NM_000138.5(FBN1):c.2306G>A (p.Cys769Tyr) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:16571647|PMID:16905551|PMID:17701892|PMID:19293843|PMID:19349279|PMID:20564469|PMID:24635535|PMID:25053872|PMID:28492532|PMID:29543232 10054986 CV197765 NM_000138.5(FBN1):c.2306G>A (p.Cys769Tyr) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:16571647|PMID:16905551|PMID:17701892|PMID:19293843|PMID:19349279|PMID:20564469|PMID:24635535|PMID:25053872|PMID:28492532|PMID:29543232 10054987 CV197764 NM_000138.5(FBN1):c.2418A>G (p.Glu806=) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10054987 CV197764 NM_000138.5(FBN1):c.2418A>G (p.Glu806=) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868|PMID:28492532 10054987 CV197764 NM_000138.5(FBN1):c.2418A>G (p.Glu806=) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:25741868|PMID:28492532 10054987 CV197764 NM_000138.5(FBN1):c.2418A>G (p.Glu806=) variant DOID:9005492 Marfan Lipodystrophy Syndrome IAGP D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Marfan lipodystrophy syndrome PMID:25741868|PMID:28492532 10054988 CV197763 NM_000138.5(FBN1):c.2434G>A (p.Glu812Lys) variant DOID:0111150 autosomal dominant isolated ectopia lentis 1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ectopia lentis, isolated, autosomal dominant PMID:25741868|PMID:28492532 10054988 CV197763 NM_000138.5(FBN1):c.2434G>A (p.Glu812Lys) variant DOID:0111243 acromicric dysplasia IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Acromicric skeletal dysplasia PMID:25741868|PMID:28492532 10054988 CV197763 NM_000138.5(FBN1):c.2434G>A (p.Glu812Lys) variant DOID:0111561 stiff skin syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Stiff skin syndrome PMID:25741868|PMID:28492532 10054988 CV197763 NM_000138.5(FBN1):c.2434G>A (p.Glu812Lys) variant DOID:0111726 geleophysic dysplasia 2 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Geleophysic dysplasia 2 PMID:25741868|PMID:28492532 10054988 CV197763 NM_000138.5(FBN1):c.2434G>A (p.Glu812Lys) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10054988 CV197763 NM_000138.5(FBN1):c.2434G>A (p.Glu812Lys) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868|PMID:28492532 10054988 CV197763 NM_000138.5(FBN1):c.2434G>A (p.Glu812Lys) variant DOID:9001464 Weill-Marchesani Syndrome 2 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Weill-Marchesani syndrome 2 PMID:25741868|PMID:28492532 10054988 CV197763 NM_000138.5(FBN1):c.2434G>A (p.Glu812Lys) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:25741868|PMID:28492532 10054988 CV197763 NM_000138.5(FBN1):c.2434G>A (p.Glu812Lys) variant DOID:9005492 Marfan Lipodystrophy Syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME PMID:25741868|PMID:28492532 10054988 CV197763 NM_000138.5(FBN1):c.2434G>A (p.Glu812Lys) variant DOID:9007706 MASS Syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Overlap connective tissue disease PMID:25741868|PMID:28492532 10054989 CV197762 NM_000138.5(FBN1):c.2539+1G>A variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:12161601|PMID:16199547|PMID:17657824|PMID:19293843|PMID:28492532|PMID:31830381 10054990 CV197757 NM_000138.5(FBN1):c.2627G>A (p.Cys876Tyr) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:16571647|PMID:16905551|PMID:17701892|PMID:19349279|PMID:26787436|PMID:28492532|PMID:28855619 10054991 CV197756 NM_000138.5(FBN1):c.2638G>A (p.Gly880Ser) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:12402346|PMID:15821637|PMID:16905551|PMID:18435798|PMID:22772377|PMID:25741868|PMID:28492532|PMID:31098894|PMID:31730815 10054991 CV197756 NM_000138.5(FBN1):c.2638G>A (p.Gly880Ser) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:12402346|PMID:15821637|PMID:16905551|PMID:18435798|PMID:22772377|PMID:25741868|PMID:28492532|PMID:31098894|PMID:31730815 10054991 CV197756 NM_000138.5(FBN1):c.2638G>A (p.Gly880Ser) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:12402346|PMID:15821637|PMID:16905551|PMID:18435798|PMID:22772377|PMID:25741868|PMID:28492532|PMID:31098894|PMID:31730815 10054992 CV197755 NM_000138.5(FBN1):c.2645C>T (p.Ala882Val) variant DOID:0070234 Loeys-Dietz syndrome 2 IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections PMID:15241795|PMID:16756980|PMID:17627385|PMID:17657824|PMID:19161152|PMID:19328768|PMID:19839986|PMID:20564469|PMID:21895641|PMID:25652356|PMID:25741868|PMID:28492532|PMID:28650953|PMID:28973303|PMID:29543232|PMID:29907982|PMID:30341550 10054992 CV197755 NM_000138.5(FBN1):c.2645C>T (p.Ala882Val) variant DOID:0111150 autosomal dominant isolated ectopia lentis 1 IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Ectopia lentis 1, isolated, autosomal dominant PMID:15241795|PMID:16756980|PMID:17627385|PMID:17657824|PMID:19161152|PMID:19328768|PMID:19839986|PMID:20564469|PMID:21895641|PMID:25652356|PMID:25741868|PMID:28492532|PMID:28650953|PMID:28973303|PMID:29543232|PMID:29907982|PMID:30341550 10054992 CV197755 NM_000138.5(FBN1):c.2645C>T (p.Ala882Val) variant DOID:0111243 acromicric dysplasia IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Acromicric skeletal dysplasia PMID:15241795|PMID:16756980|PMID:17627385|PMID:17657824|PMID:19161152|PMID:19328768|PMID:19839986|PMID:20564469|PMID:21895641|PMID:25652356|PMID:25741868|PMID:28492532|PMID:28650953|PMID:28973303|PMID:29543232|PMID:29907982|PMID:30341550 10054992 CV197755 NM_000138.5(FBN1):c.2645C>T (p.Ala882Val) variant DOID:0111561 stiff skin syndrome IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Stiff skin syndrome PMID:15241795|PMID:16756980|PMID:17627385|PMID:17657824|PMID:19161152|PMID:19328768|PMID:19839986|PMID:20564469|PMID:21895641|PMID:25652356|PMID:25741868|PMID:28492532|PMID:28650953|PMID:28973303|PMID:29543232|PMID:29907982|PMID:30341550 10054992 CV197755 NM_000138.5(FBN1):c.2645C>T (p.Ala882Val) variant DOID:0111726 geleophysic dysplasia 2 IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Geleophysic dysplasia 2 PMID:15241795|PMID:16756980|PMID:17627385|PMID:17657824|PMID:19161152|PMID:19328768|PMID:19839986|PMID:20564469|PMID:21895641|PMID:25652356|PMID:25741868|PMID:28492532|PMID:28650953|PMID:28973303|PMID:29543232|PMID:29907982|PMID:30341550 10054992 CV197755 NM_000138.5(FBN1):c.2645C>T (p.Ala882Val) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection PMID:15241795|PMID:16756980|PMID:17627385|PMID:17657824|PMID:19161152|PMID:19328768|PMID:19839986|PMID:20564469|PMID:21895641|PMID:25652356|PMID:25741868|PMID:28492532|PMID:28650953|PMID:28973303|PMID:29543232|PMID:29907982|PMID:30341550 10054992 CV197755 NM_000138.5(FBN1):c.2645C>T (p.Ala882Val) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Marfan's syndrome PMID:15241795|PMID:16756980|PMID:17627385|PMID:17657824|PMID:19161152|PMID:19328768|PMID:19839986|PMID:20564469|PMID:21895641|PMID:25652356|PMID:25741868|PMID:28492532|PMID:28650953|PMID:28973303|PMID:29543232|PMID:29907982|PMID:30341550 10054992 CV197755 NM_000138.5(FBN1):c.2645C>T (p.Ala882Val) variant DOID:9001464 Weill-Marchesani Syndrome 2 IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Weill-Marchesani Syndrome, Autosomal Dominant PMID:15241795|PMID:16756980|PMID:17627385|PMID:17657824|PMID:19161152|PMID:19328768|PMID:19839986|PMID:20564469|PMID:21895641|PMID:25652356|PMID:25741868|PMID:28492532|PMID:28650953|PMID:28973303|PMID:29543232|PMID:29907982|PMID:30341550 10054992 CV197755 NM_000138.5(FBN1):c.2645C>T (p.Ala882Val) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:15241795|PMID:16756980|PMID:17627385|PMID:17657824|PMID:19161152|PMID:19328768|PMID:19839986|PMID:20564469|PMID:21895641|PMID:25652356|PMID:25741868|PMID:28492532|PMID:28650953|PMID:28973303|PMID:29543232|PMID:29907982|PMID:30341550 10054992 CV197755 NM_000138.5(FBN1):c.2645C>T (p.Ala882Val) variant DOID:9005492 Marfan Lipodystrophy Syndrome IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME PMID:15241795|PMID:16756980|PMID:17627385|PMID:17657824|PMID:19161152|PMID:19328768|PMID:19839986|PMID:20564469|PMID:21895641|PMID:25652356|PMID:25741868|PMID:28492532|PMID:28650953|PMID:28973303|PMID:29543232|PMID:29907982|PMID:30341550 10054992 CV197755 NM_000138.5(FBN1):c.2645C>T (p.Ala882Val) variant DOID:9007706 MASS Syndrome IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Overlap connective tissue disease PMID:15241795|PMID:16756980|PMID:17627385|PMID:17657824|PMID:19161152|PMID:19328768|PMID:19839986|PMID:20564469|PMID:21895641|PMID:25652356|PMID:25741868|PMID:28492532|PMID:28650953|PMID:28973303|PMID:29543232|PMID:29907982|PMID:30341550 10054994 CV197747 NM_000138.5(FBN1):c.2806C>T (p.Gln936Ter) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:17657824|PMID:19293843|PMID:28492532 10054995 CV197749 NM_000138.5(FBN1):c.2746G>A (p.Val916Met) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:24833718|PMID:25741868|PMID:28492532 10054995 CV197749 NM_000138.5(FBN1):c.2746G>A (p.Val916Met) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:24833718|PMID:25741868|PMID:28492532 10054995 CV197749 NM_000138.5(FBN1):c.2746G>A (p.Val916Met) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:24833718|PMID:25741868|PMID:28492532 10054996 CV197746 NM_000138.5(FBN1):c.2861G>A (p.Arg954His) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:12938084|PMID:19159394|PMID:25741868|PMID:28492532|PMID:33436942 10054996 CV197746 NM_000138.5(FBN1):c.2861G>A (p.Arg954His) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:12938084|PMID:19159394|PMID:25741868|PMID:28492532|PMID:33436942 10054996 CV197746 NM_000138.5(FBN1):c.2861G>A (p.Arg954His) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:12938084|PMID:19159394|PMID:25741868|PMID:28492532|PMID:33436942 10054997 CV197745 NM_000138.5(FBN1):c.2926C>T (p.Arg976Cys) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm PMID:25741868|PMID:28492532|PMID:31589614|PMID:32989268|PMID:33824467 10054997 CV197745 NM_000138.5(FBN1):c.2926C>T (p.Arg976Cys) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868|PMID:28492532|PMID:31589614|PMID:32989268|PMID:33824467 10054997 CV197745 NM_000138.5(FBN1):c.2926C>T (p.Arg976Cys) variant DOID:9007706 MASS Syndrome IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: MASS syndrome PMID:25741868|PMID:28492532|PMID:31589614|PMID:32989268|PMID:33824467 10054999 CV197742 NM_000138.5(FBN1):c.2953G>A (p.Gly985Arg) variant DOID:0070234 Loeys-Dietz syndrome 2 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections PMID:10441597|PMID:11700157|PMID:15241795|PMID:16220557|PMID:17627385|PMID:19002209|PMID:19161152|PMID:19293843|PMID:19863550|PMID:24199744|PMID:25741868|PMID:27611364|PMID:28492532|PMID:37378398 10054999 CV197742 NM_000138.5(FBN1):c.2953G>A (p.Gly985Arg) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm PMID:10441597|PMID:11700157|PMID:15241795|PMID:16220557|PMID:17627385|PMID:19002209|PMID:19161152|PMID:19293843|PMID:19863550|PMID:24199744|PMID:25741868|PMID:27611364|PMID:28492532|PMID:37378398 10054999 CV197742 NM_000138.5(FBN1):c.2953G>A (p.Gly985Arg) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:10441597|PMID:11700157|PMID:15241795|PMID:16220557|PMID:17627385|PMID:19002209|PMID:19161152|PMID:19293843|PMID:19863550|PMID:24199744|PMID:25741868|PMID:27611364|PMID:28492532|PMID:37378398 10054999 CV197742 NM_000138.5(FBN1):c.2953G>A (p.Gly985Arg) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:10441597|PMID:11700157|PMID:15241795|PMID:16220557|PMID:17627385|PMID:19002209|PMID:19161152|PMID:19293843|PMID:19863550|PMID:24199744|PMID:25741868|PMID:27611364|PMID:28492532|PMID:37378398 10055000 CV197741 NM_000138.5(FBN1):c.3013G>A (p.Glu1005Lys) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection PMID:25741868|PMID:28492532 10055000 CV197741 NM_000138.5(FBN1):c.3013G>A (p.Glu1005Lys) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868|PMID:28492532 10055000 CV197741 NM_000138.5(FBN1):c.3013G>A (p.Glu1005Lys) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:25741868|PMID:28492532 10055001 CV197740 NM_000138.5(FBN1):c.3020T>G (p.Leu1007Arg) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection PMID:25741868|PMID:28492532 10055001 CV197740 NM_000138.5(FBN1):c.3020T>G (p.Leu1007Arg) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868|PMID:28492532 10055001 CV197740 NM_000138.5(FBN1):c.3020T>G (p.Leu1007Arg) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:25741868|PMID:28492532 10055002 CV197830 NM_000138.5(FBN1):c.50T>C (p.Leu17Ser) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:28492532 10055004 CV197737 NM_000138.5(FBN1):c.3173G>T (p.Gly1058Val) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:16222657|PMID:27160103|PMID:28492532 10055005 CV197736 NM_000138.5(FBN1):c.3184G>A (p.Asp1062Asn) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868 10055005 CV197736 NM_000138.5(FBN1):c.3184G>A (p.Asp1062Asn) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868 10055005 CV197736 NM_000138.5(FBN1):c.3184G>A (p.Asp1062Asn) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:25741868 10055006 CV197735 NM_000138.5(FBN1):c.3344A>G (p.Asp1115Gly) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:11175294|PMID:17324963|PMID:22736615|PMID:25741868|PMID:28492532 10055006 CV197735 NM_000138.5(FBN1):c.3344A>G (p.Asp1115Gly) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:11175294|PMID:17324963|PMID:22736615|PMID:25741868|PMID:28492532 10055006 CV197735 NM_000138.5(FBN1):c.3344A>G (p.Asp1115Gly) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:11175294|PMID:17324963|PMID:22736615|PMID:25741868|PMID:28492532 10055007 CV197734 NM_000138.5(FBN1):c.3389A>G (p.His1130Arg) variant DOID:0111150 autosomal dominant isolated ectopia lentis 1 IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Ectopia lentis 1, isolated, autosomal dominant PMID:19533785|PMID:25741868|PMID:28492532|PMID:28941062|PMID:32009526 10055007 CV197734 NM_000138.5(FBN1):c.3389A>G (p.His1130Arg) variant DOID:0111243 acromicric dysplasia IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Acromicric skeletal dysplasia PMID:19533785|PMID:25741868|PMID:28492532|PMID:28941062|PMID:32009526 10055007 CV197734 NM_000138.5(FBN1):c.3389A>G (p.His1130Arg) variant DOID:0111561 stiff skin syndrome IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Stiff skin syndrome PMID:19533785|PMID:25741868|PMID:28492532|PMID:28941062|PMID:32009526 10055007 CV197734 NM_000138.5(FBN1):c.3389A>G (p.His1130Arg) variant DOID:0111726 geleophysic dysplasia 2 IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Geleophysic dysplasia 2 PMID:19533785|PMID:25741868|PMID:28492532|PMID:28941062|PMID:32009526 10055007 CV197734 NM_000138.5(FBN1):c.3389A>G (p.His1130Arg) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:19533785|PMID:25741868|PMID:28492532|PMID:28941062|PMID:32009526 10055007 CV197734 NM_000138.5(FBN1):c.3389A>G (p.His1130Arg) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:19533785|PMID:25741868|PMID:28492532|PMID:28941062|PMID:32009526 10055007 CV197734 NM_000138.5(FBN1):c.3389A>G (p.His1130Arg) variant DOID:65 connective tissue disease IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Connective tissue disease PMID:19533785|PMID:25741868|PMID:28492532|PMID:28941062|PMID:32009526 10055007 CV197734 NM_000138.5(FBN1):c.3389A>G (p.His1130Arg) variant DOID:9001464 Weill-Marchesani Syndrome 2 IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Weill-Marchesani syndrome 2 PMID:19533785|PMID:25741868|PMID:28492532|PMID:28941062|PMID:32009526 10055007 CV197734 NM_000138.5(FBN1):c.3389A>G (p.His1130Arg) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:19533785|PMID:25741868|PMID:28492532|PMID:28941062|PMID:32009526 10055007 CV197734 NM_000138.5(FBN1):c.3389A>G (p.His1130Arg) variant DOID:9005492 Marfan Lipodystrophy Syndrome IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME PMID:19533785|PMID:25741868|PMID:28492532|PMID:28941062|PMID:32009526 10055007 CV197734 NM_000138.5(FBN1):c.3389A>G (p.His1130Arg) variant DOID:9007706 MASS Syndrome IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Overlap connective tissue disease PMID:19533785|PMID:25741868|PMID:28492532|PMID:28941062|PMID:32009526 10055008 CV197731 NM_000138.5(FBN1):c.3463G>A (p.Asp1155Asn) variant DOID:0070234 Loeys-Dietz syndrome 2 IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections PMID:14695540|PMID:17576681|PMID:17657824|PMID:19002209|PMID:19293843|PMID:20301510|PMID:20564469|PMID:20886638|PMID:25741868|PMID:27274304|PMID:28492532|PMID:29357934|PMID:31950671|PMID:32679894|PMID:8941093|PMID:9452033|PMID:9536098 10055008 CV197731 NM_000138.5(FBN1):c.3463G>A (p.Asp1155Asn) variant DOID:0111561 stiff skin syndrome IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Stiff skin syndrome PMID:14695540|PMID:17576681|PMID:17657824|PMID:19002209|PMID:19293843|PMID:20301510|PMID:20564469|PMID:20886638|PMID:25741868|PMID:27274304|PMID:28492532|PMID:29357934|PMID:31950671|PMID:32679894|PMID:8941093|PMID:9452033|PMID:9536098 10055008 CV197731 NM_000138.5(FBN1):c.3463G>A (p.Asp1155Asn) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:14695540|PMID:17576681|PMID:17657824|PMID:19002209|PMID:19293843|PMID:20301510|PMID:20564469|PMID:20886638|PMID:25741868|PMID:27274304|PMID:28492532|PMID:29357934|PMID:31950671|PMID:32679894|PMID:8941093|PMID:9452033|PMID:9536098 10055008 CV197731 NM_000138.5(FBN1):c.3463G>A (p.Asp1155Asn) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:14695540|PMID:17576681|PMID:17657824|PMID:19002209|PMID:19293843|PMID:20301510|PMID:20564469|PMID:20886638|PMID:25741868|PMID:27274304|PMID:28492532|PMID:29357934|PMID:31950671|PMID:32679894|PMID:8941093|PMID:9452033|PMID:9536098 10055008 CV197731 NM_000138.5(FBN1):c.3463G>A (p.Asp1155Asn) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:14695540|PMID:17576681|PMID:17657824|PMID:19002209|PMID:19293843|PMID:20301510|PMID:20564469|PMID:20886638|PMID:25741868|PMID:27274304|PMID:28492532|PMID:29357934|PMID:31950671|PMID:32679894|PMID:8941093|PMID:9452033|PMID:9536098 10055011 CV197726 NM_000138.5(FBN1):c.3596A>G (p.Asp1199Gly) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:21270786|PMID:22772377|PMID:25741868|PMID:25907466|PMID:27112580|PMID:27981572|PMID:28492532 10055012 CV197725 NM_000138.5(FBN1):c.3614A>G (p.Asn1205Ser) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868 10055013 CV197723 NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn) variant DOID:0111150 autosomal dominant isolated ectopia lentis 1 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Ectopia lentis 1, isolated, autosomal dominant PMID:10533071|PMID:11175294|PMID:17576681|PMID:19370756|PMID:20886638|PMID:24941995|PMID:25741868|PMID:28492532|PMID:28847661|PMID:29510914|PMID:30675029|PMID:3212331|PMID:32123317|PMID:32730690|PMID:34135346|PMID:37042257|PMID:37460677|PMID:38190127|PMID:9536098 10055013 CV197723 NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn) variant DOID:0111243 acromicric dysplasia IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Acromicric skeletal dysplasia PMID:10533071|PMID:11175294|PMID:17576681|PMID:19370756|PMID:20886638|PMID:24941995|PMID:25741868|PMID:28492532|PMID:28847661|PMID:29510914|PMID:30675029|PMID:3212331|PMID:32123317|PMID:32730690|PMID:34135346|PMID:37042257|PMID:37460677|PMID:38190127|PMID:9536098 10055013 CV197723 NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn) variant DOID:0111561 stiff skin syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Stiff skin syndrome PMID:10533071|PMID:11175294|PMID:17576681|PMID:19370756|PMID:20886638|PMID:24941995|PMID:25741868|PMID:28492532|PMID:28847661|PMID:29510914|PMID:30675029|PMID:3212331|PMID:32123317|PMID:32730690|PMID:34135346|PMID:37042257|PMID:37460677|PMID:38190127|PMID:9536098 10055013 CV197723 NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn) variant DOID:0111726 geleophysic dysplasia 2 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Geleophysic dysplasia 2 PMID:10533071|PMID:11175294|PMID:17576681|PMID:19370756|PMID:20886638|PMID:24941995|PMID:25741868|PMID:28492532|PMID:28847661|PMID:29510914|PMID:30675029|PMID:3212331|PMID:32123317|PMID:32730690|PMID:34135346|PMID:37042257|PMID:37460677|PMID:38190127|PMID:9536098 10055013 CV197723 NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10533071|PMID:11175294|PMID:17576681|PMID:19370756|PMID:20886638|PMID:24941995|PMID:25741868|PMID:28492532|PMID:28847661|PMID:29510914|PMID:30675029|PMID:3212331|PMID:32123317|PMID:32730690|PMID:34135346|PMID:37042257|PMID:37460677|PMID:38190127|PMID:9536098 10055013 CV197723 NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:10533071|PMID:11175294|PMID:17576681|PMID:19370756|PMID:20886638|PMID:24941995|PMID:25741868|PMID:28492532|PMID:28847661|PMID:29510914|PMID:30675029|PMID:3212331|PMID:32123317|PMID:32730690|PMID:34135346|PMID:37042257|PMID:37460677|PMID:38190127|PMID:9536098 10055013 CV197723 NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn) variant DOID:9001464 Weill-Marchesani Syndrome 2 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Weill-Marchesani Syndrome, Autosomal Dominant PMID:10533071|PMID:11175294|PMID:17576681|PMID:19370756|PMID:20886638|PMID:24941995|PMID:25741868|PMID:28492532|PMID:28847661|PMID:29510914|PMID:30675029|PMID:3212331|PMID:32123317|PMID:32730690|PMID:34135346|PMID:37042257|PMID:37460677|PMID:38190127|PMID:9536098 10055013 CV197723 NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:10533071|PMID:11175294|PMID:17576681|PMID:19370756|PMID:20886638|PMID:24941995|PMID:25741868|PMID:28492532|PMID:28847661|PMID:29510914|PMID:30675029|PMID:3212331|PMID:32123317|PMID:32730690|PMID:34135346|PMID:37042257|PMID:37460677|PMID:38190127|PMID:9536098 10055013 CV197723 NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn) variant DOID:9005492 Marfan Lipodystrophy Syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME PMID:10533071|PMID:11175294|PMID:17576681|PMID:19370756|PMID:20886638|PMID:24941995|PMID:25741868|PMID:28492532|PMID:28847661|PMID:29510914|PMID:30675029|PMID:3212331|PMID:32123317|PMID:32730690|PMID:34135346|PMID:37042257|PMID:37460677|PMID:38190127|PMID:9536098 10055013 CV197723 NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn) variant DOID:9007706 MASS Syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: MASS PHENOTYPE PMID:10533071|PMID:11175294|PMID:17576681|PMID:19370756|PMID:20886638|PMID:24941995|PMID:25741868|PMID:28492532|PMID:28847661|PMID:29510914|PMID:30675029|PMID:3212331|PMID:32123317|PMID:32730690|PMID:34135346|PMID:37042257|PMID:37460677|PMID:38190127|PMID:9536098 10055015 CV197721 NM_000138.5(FBN1):c.3718G>A (p.Asp1240Asn) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and aortic dissections PMID:25741868|PMID:28492532 10055015 CV197721 NM_000138.5(FBN1):c.3718G>A (p.Asp1240Asn) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868|PMID:28492532 10055015 CV197721 NM_000138.5(FBN1):c.3718G>A (p.Asp1240Asn) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:25741868|PMID:28492532 10055016 CV197719 NM_000138.5(FBN1):c.3838G>A (p.Asp1280Asn) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:17576681|PMID:25741868|PMID:27906200|PMID:28492532|PMID:31163209|PMID:9536098 10055018 CV197717 NM_000138.5(FBN1):c.3890A>G (p.Glu1297Gly) variant DOID:0050475 Weill-Marchesani syndrome IAGP D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Weill-Marchesani syndrome PMID:25652356|PMID:25741868|PMID:28492532|PMID:29168297|PMID:31506931 10055018 CV197717 NM_000138.5(FBN1):c.3890A>G (p.Glu1297Gly) variant DOID:0111150 autosomal dominant isolated ectopia lentis 1 IAGP D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Ectopia lentis, isolated, autosomal dominant PMID:25652356|PMID:25741868|PMID:28492532|PMID:29168297|PMID:31506931 10055018 CV197717 NM_000138.5(FBN1):c.3890A>G (p.Glu1297Gly) variant DOID:0111243 acromicric dysplasia IAGP D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Acromicric skeletal dysplasia PMID:25652356|PMID:25741868|PMID:28492532|PMID:29168297|PMID:31506931 10055018 CV197717 NM_000138.5(FBN1):c.3890A>G (p.Glu1297Gly) variant DOID:0111561 stiff skin syndrome IAGP D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Stiff skin syndrome PMID:25652356|PMID:25741868|PMID:28492532|PMID:29168297|PMID:31506931 10055018 CV197717 NM_000138.5(FBN1):c.3890A>G (p.Glu1297Gly) variant DOID:0111724 geleophysic dysplasia IAGP D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Geleophysic dysplasia PMID:25652356|PMID:25741868|PMID:28492532|PMID:29168297|PMID:31506931 10055018 CV197717 NM_000138.5(FBN1):c.3890A>G (p.Glu1297Gly) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection PMID:25652356|PMID:25741868|PMID:28492532|PMID:29168297|PMID:31506931 10055018 CV197717 NM_000138.5(FBN1):c.3890A>G (p.Glu1297Gly) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25652356|PMID:25741868|PMID:28492532|PMID:29168297|PMID:31506931 10055018 CV197717 NM_000138.5(FBN1):c.3890A>G (p.Glu1297Gly) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:25652356|PMID:25741868|PMID:28492532|PMID:29168297|PMID:31506931 10055020 CV197829 NM_000138.5(FBN1):c.139G>A (p.Gly47Ser) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and aortic dissections PMID:25741868|PMID:28492532 10055020 CV197829 NM_000138.5(FBN1):c.139G>A (p.Gly47Ser) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868|PMID:28492532 10055020 CV197829 NM_000138.5(FBN1):c.139G>A (p.Gly47Ser) variant DOID:57 aortic valve insufficiency IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Aortic valve regurgitation PMID:25741868|PMID:28492532 10055020 CV197829 NM_000138.5(FBN1):c.139G>A (p.Gly47Ser) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:25741868|PMID:28492532 10055020 CV197829 NM_000138.5(FBN1):c.139G>A (p.Gly47Ser) variant DOID:9005077 Joint Instability IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Joint hypermobility PMID:25741868|PMID:28492532 10055020 CV197829 NM_000138.5(FBN1):c.139G>A (p.Gly47Ser) variant DOID:9005367 Arachnodactyly IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Arachnodactyly PMID:25741868|PMID:28492532 10055021 CV197827 NM_000138.5(FBN1):c.164+1G>A variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:1569206|PMID:16199547|PMID:17657824|PMID:19293843|PMID:24161884|PMID:25741868|PMID:28492532 10055022 CV197714 NM_000138.5(FBN1):c.3975A>C (p.Glu1325Asp) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:14695540|PMID:28492532 10055023 CV197713 NM_000138.5(FBN1):c.4050C>A (p.Cys1350Ter) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868 10055025 CV197703 NM_000138.5(FBN1):c.4337-2A>G variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:17657824|PMID:21907952|PMID:25101912|PMID:25652356|PMID:25741868 10055025 CV197703 NM_000138.5(FBN1):c.4337-2A>G variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20180807 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:17657824|PMID:21907952|PMID:25101912|PMID:25652356|PMID:25741868 10055025 CV197703 NM_000138.5(FBN1):c.4337-2A>G variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:17657824|PMID:21907952|PMID:25101912|PMID:25652356|PMID:25741868 10055026 CV197711 NM_000138.5(FBN1):c.4094A>G (p.Asp1365Gly) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:28492532 10055027 CV197710 NM_000138.5(FBN1):c.4096G>A (p.Glu1366Lys) variant DOID:0070234 Loeys-Dietz syndrome 2 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections PMID:14695540|PMID:16342915|PMID:17657824|PMID:21895641|PMID:24199744|PMID:24635535|PMID:25741868|PMID:25907466|PMID:27611364|PMID:27724990|PMID:28492532|PMID:31098894|PMID:31227806 10055027 CV197710 NM_000138.5(FBN1):c.4096G>A (p.Glu1366Lys) variant DOID:0111726 geleophysic dysplasia 2 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Geleophysic dysplasia 2 PMID:14695540|PMID:16342915|PMID:17657824|PMID:21895641|PMID:24199744|PMID:24635535|PMID:25741868|PMID:25907466|PMID:27611364|PMID:27724990|PMID:28492532|PMID:31098894|PMID:31227806 10055027 CV197710 NM_000138.5(FBN1):c.4096G>A (p.Glu1366Lys) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection PMID:14695540|PMID:16342915|PMID:17657824|PMID:21895641|PMID:24199744|PMID:24635535|PMID:25741868|PMID:25907466|PMID:27611364|PMID:27724990|PMID:28492532|PMID:31098894|PMID:31227806 10055027 CV197710 NM_000138.5(FBN1):c.4096G>A (p.Glu1366Lys) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:14695540|PMID:16342915|PMID:17657824|PMID:21895641|PMID:24199744|PMID:24635535|PMID:25741868|PMID:25907466|PMID:27611364|PMID:27724990|PMID:28492532|PMID:31098894|PMID:31227806 10055027 CV197710 NM_000138.5(FBN1):c.4096G>A (p.Glu1366Lys) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:14695540|PMID:16342915|PMID:17657824|PMID:21895641|PMID:24199744|PMID:24635535|PMID:25741868|PMID:25907466|PMID:27611364|PMID:27724990|PMID:28492532|PMID:31098894|PMID:31227806 10055028 CV197709 NM_000138.5(FBN1):c.4146T>A (p.Asn1382Lys) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:17627385|PMID:18087243|PMID:28492532|PMID:7611299 10055029 CV197708 NM_000138.5(FBN1):c.4150A>G (p.Met1384Val) variant DOID:0111150 autosomal dominant isolated ectopia lentis 1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ectopia lentis, isolated, autosomal dominant PMID:25741868|PMID:26272908|PMID:28492532 10055029 CV197708 NM_000138.5(FBN1):c.4150A>G (p.Met1384Val) variant DOID:0111243 acromicric dysplasia IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Acromicric skeletal dysplasia PMID:25741868|PMID:26272908|PMID:28492532 10055029 CV197708 NM_000138.5(FBN1):c.4150A>G (p.Met1384Val) variant DOID:0111561 stiff skin syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Stiff skin syndrome PMID:25741868|PMID:26272908|PMID:28492532 10055029 CV197708 NM_000138.5(FBN1):c.4150A>G (p.Met1384Val) variant DOID:0111726 geleophysic dysplasia 2 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Geleophysic dysplasia 2 PMID:25741868|PMID:26272908|PMID:28492532 10055029 CV197708 NM_000138.5(FBN1):c.4150A>G (p.Met1384Val) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection PMID:25741868|PMID:26272908|PMID:28492532 10055029 CV197708 NM_000138.5(FBN1):c.4150A>G (p.Met1384Val) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868|PMID:26272908|PMID:28492532 10055029 CV197708 NM_000138.5(FBN1):c.4150A>G (p.Met1384Val) variant DOID:9001464 Weill-Marchesani Syndrome 2 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Weill-Marchesani syndrome 2 PMID:25741868|PMID:26272908|PMID:28492532 10055029 CV197708 NM_000138.5(FBN1):c.4150A>G (p.Met1384Val) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:25741868|PMID:26272908|PMID:28492532 10055029 CV197708 NM_000138.5(FBN1):c.4150A>G (p.Met1384Val) variant DOID:9005492 Marfan Lipodystrophy Syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME PMID:25741868|PMID:26272908|PMID:28492532 10055029 CV197708 NM_000138.5(FBN1):c.4150A>G (p.Met1384Val) variant DOID:9007706 MASS Syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Overlap connective tissue disease PMID:25741868|PMID:26272908|PMID:28492532 10055030 CV197707 NM_000138.5(FBN1):c.4157C>T (p.Ser1386Phe) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection PMID:25741868|PMID:28492532 10055030 CV197707 NM_000138.5(FBN1):c.4157C>T (p.Ser1386Phe) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868|PMID:28492532 10055030 CV197707 NM_000138.5(FBN1):c.4157C>T (p.Ser1386Phe) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:25741868|PMID:28492532 10055031 CV197706 NM_000138.5(FBN1):c.4210G>A (p.Asp1404Asn) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:17576681|PMID:28492532|PMID:9338581|PMID:9536098 10055032 CV197705 NM_000138.5(FBN1):c.4214T>G (p.Leu1405Arg) variant DOID:0050475 Weill-Marchesani syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Weill-Marchesani syndrome PMID:19012347|PMID:24833718|PMID:25519456|PMID:25741868|PMID:26333736|PMID:28492532|PMID:32938213 10055032 CV197705 NM_000138.5(FBN1):c.4214T>G (p.Leu1405Arg) variant DOID:0111150 autosomal dominant isolated ectopia lentis 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ectopia lentis, isolated, autosomal dominant PMID:19012347|PMID:24833718|PMID:25519456|PMID:25741868|PMID:26333736|PMID:28492532|PMID:32938213 10055032 CV197705 NM_000138.5(FBN1):c.4214T>G (p.Leu1405Arg) variant DOID:0111243 acromicric dysplasia IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Acromicric skeletal dysplasia PMID:19012347|PMID:24833718|PMID:25519456|PMID:25741868|PMID:26333736|PMID:28492532|PMID:32938213 10055032 CV197705 NM_000138.5(FBN1):c.4214T>G (p.Leu1405Arg) variant DOID:0111561 stiff skin syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Stiff skin syndrome PMID:19012347|PMID:24833718|PMID:25519456|PMID:25741868|PMID:26333736|PMID:28492532|PMID:32938213 10055032 CV197705 NM_000138.5(FBN1):c.4214T>G (p.Leu1405Arg) variant DOID:0111724 geleophysic dysplasia IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Geleophysic dysplasia PMID:19012347|PMID:24833718|PMID:25519456|PMID:25741868|PMID:26333736|PMID:28492532|PMID:32938213 10055032 CV197705 NM_000138.5(FBN1):c.4214T>G (p.Leu1405Arg) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:19012347|PMID:24833718|PMID:25519456|PMID:25741868|PMID:26333736|PMID:28492532|PMID:32938213 10055032 CV197705 NM_000138.5(FBN1):c.4214T>G (p.Leu1405Arg) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:19012347|PMID:24833718|PMID:25519456|PMID:25741868|PMID:26333736|PMID:28492532|PMID:32938213 10055032 CV197705 NM_000138.5(FBN1):c.4214T>G (p.Leu1405Arg) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:19012347|PMID:24833718|PMID:25519456|PMID:25741868|PMID:26333736|PMID:28492532|PMID:32938213 10055033 CV197704 NM_000138.5(FBN1):c.4336G>A (p.Asp1446Asn) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:17576681|PMID:25741868|PMID:25907466|PMID:28492532|PMID:9536098 10055035 CV197698 NM_000138.5(FBN1):c.4437C>G (p.Asp1479Glu) variant DOID:0111150 autosomal dominant isolated ectopia lentis 1 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Ectopia lentis 1, isolated, autosomal dominant PMID:12938084|PMID:24833718|PMID:25741868|PMID:27906200|PMID:28492532|PMID:35234813|PMID:38958128 10055035 CV197698 NM_000138.5(FBN1):c.4437C>G (p.Asp1479Glu) variant DOID:0111243 acromicric dysplasia IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Acromicric skeletal dysplasia PMID:12938084|PMID:24833718|PMID:25741868|PMID:27906200|PMID:28492532|PMID:35234813|PMID:38958128 10055035 CV197698 NM_000138.5(FBN1):c.4437C>G (p.Asp1479Glu) variant DOID:0111561 stiff skin syndrome IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Stiff skin syndrome PMID:12938084|PMID:24833718|PMID:25741868|PMID:27906200|PMID:28492532|PMID:35234813|PMID:38958128 10055035 CV197698 NM_000138.5(FBN1):c.4437C>G (p.Asp1479Glu) variant DOID:0111726 geleophysic dysplasia 2 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Geleophysic dysplasia 2 PMID:12938084|PMID:24833718|PMID:25741868|PMID:27906200|PMID:28492532|PMID:35234813|PMID:38958128 10055035 CV197698 NM_000138.5(FBN1):c.4437C>G (p.Asp1479Glu) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:12938084|PMID:24833718|PMID:25741868|PMID:27906200|PMID:28492532|PMID:35234813|PMID:38958128 10055035 CV197698 NM_000138.5(FBN1):c.4437C>G (p.Asp1479Glu) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:12938084|PMID:24833718|PMID:25741868|PMID:27906200|PMID:28492532|PMID:35234813|PMID:38958128 10055035 CV197698 NM_000138.5(FBN1):c.4437C>G (p.Asp1479Glu) variant DOID:9001464 Weill-Marchesani Syndrome 2 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Weill-Marchesani syndrome 2 PMID:12938084|PMID:24833718|PMID:25741868|PMID:27906200|PMID:28492532|PMID:35234813|PMID:38958128 10055035 CV197698 NM_000138.5(FBN1):c.4437C>G (p.Asp1479Glu) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:12938084|PMID:24833718|PMID:25741868|PMID:27906200|PMID:28492532|PMID:35234813|PMID:38958128 10055035 CV197698 NM_000138.5(FBN1):c.4437C>G (p.Asp1479Glu) variant DOID:9005492 Marfan Lipodystrophy Syndrome IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME PMID:12938084|PMID:24833718|PMID:25741868|PMID:27906200|PMID:28492532|PMID:35234813|PMID:38958128 10055035 CV197698 NM_000138.5(FBN1):c.4437C>G (p.Asp1479Glu) variant DOID:9007706 MASS Syndrome IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Overlap connective tissue disease PMID:12938084|PMID:24833718|PMID:25741868|PMID:27906200|PMID:28492532|PMID:35234813|PMID:38958128 10055036 CV197697 NM_000138.5(FBN1):c.4447G>A (p.Gly1483Arg) variant DOID:0111726 geleophysic dysplasia 2 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Geleophysic dysplasia 2 PMID:25741868 10055036 CV197697 NM_000138.5(FBN1):c.4447G>A (p.Gly1483Arg) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868 10055036 CV197697 NM_000138.5(FBN1):c.4447G>A (p.Gly1483Arg) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868 10055036 CV197697 NM_000138.5(FBN1):c.4447G>A (p.Gly1483Arg) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:25741868 10055037 CV197696 NM_000138.5(FBN1):c.4460-9C>A variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:28492532 10055038 CV197695 NM_000138.5(FBN1):c.4492A>G (p.Ile1498Val) variant DOID:0111150 autosomal dominant isolated ectopia lentis 1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ectopia lentis, isolated, autosomal dominant PMID:25741868|PMID:28492532 10055038 CV197695 NM_000138.5(FBN1):c.4492A>G (p.Ile1498Val) variant DOID:0111243 acromicric dysplasia IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Acromicric skeletal dysplasia PMID:25741868|PMID:28492532 10055038 CV197695 NM_000138.5(FBN1):c.4492A>G (p.Ile1498Val) variant DOID:0111561 stiff skin syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Stiff skin syndrome PMID:25741868|PMID:28492532 10055038 CV197695 NM_000138.5(FBN1):c.4492A>G (p.Ile1498Val) variant DOID:0111726 geleophysic dysplasia 2 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Geleophysic dysplasia 2 PMID:25741868|PMID:28492532 10055038 CV197695 NM_000138.5(FBN1):c.4492A>G (p.Ile1498Val) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10055038 CV197695 NM_000138.5(FBN1):c.4492A>G (p.Ile1498Val) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868|PMID:28492532 10055038 CV197695 NM_000138.5(FBN1):c.4492A>G (p.Ile1498Val) variant DOID:65 connective tissue disease IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 10055038 CV197695 NM_000138.5(FBN1):c.4492A>G (p.Ile1498Val) variant DOID:9001464 Weill-Marchesani Syndrome 2 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Weill-Marchesani syndrome 2 PMID:25741868|PMID:28492532 10055038 CV197695 NM_000138.5(FBN1):c.4492A>G (p.Ile1498Val) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:25741868|PMID:28492532 10055038 CV197695 NM_000138.5(FBN1):c.4492A>G (p.Ile1498Val) variant DOID:9005492 Marfan Lipodystrophy Syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME PMID:25741868|PMID:28492532 10055038 CV197695 NM_000138.5(FBN1):c.4492A>G (p.Ile1498Val) variant DOID:9007706 MASS Syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Overlap connective tissue disease PMID:25741868|PMID:28492532 10055040 CV197693 NM_000138.5(FBN1):c.4520G>A (p.Gly1507Asp) variant DOID:0070234 Loeys-Dietz syndrome 2 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections PMID:25907466|PMID:28492532|PMID:33483584 10055040 CV197693 NM_000138.5(FBN1):c.4520G>A (p.Gly1507Asp) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25907466|PMID:28492532|PMID:33483584 10055042 CV197691 NM_000138.5(FBN1):c.4586C>A (p.Thr1529Asn) variant DOID:0111150 autosomal dominant isolated ectopia lentis 1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ectopia lentis 1, isolated, autosomal dominant PMID:25741868 10055042 CV197691 NM_000138.5(FBN1):c.4586C>A (p.Thr1529Asn) variant DOID:0111243 acromicric dysplasia IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Acromicric skeletal dysplasia PMID:25741868 10055042 CV197691 NM_000138.5(FBN1):c.4586C>A (p.Thr1529Asn) variant DOID:0111561 stiff skin syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Stiff skin syndrome PMID:25741868 10055042 CV197691 NM_000138.5(FBN1):c.4586C>A (p.Thr1529Asn) variant DOID:0111726 geleophysic dysplasia 2 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Geleophysic dysplasia 2 PMID:25741868 10055042 CV197691 NM_000138.5(FBN1):c.4586C>A (p.Thr1529Asn) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868 10055042 CV197691 NM_000138.5(FBN1):c.4586C>A (p.Thr1529Asn) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868 10055042 CV197691 NM_000138.5(FBN1):c.4586C>A (p.Thr1529Asn) variant DOID:9001464 Weill-Marchesani Syndrome 2 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Weill-Marchesani Syndrome, Autosomal Dominant PMID:25741868 10055042 CV197691 NM_000138.5(FBN1):c.4586C>A (p.Thr1529Asn) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:25741868 10055042 CV197691 NM_000138.5(FBN1):c.4586C>A (p.Thr1529Asn) variant DOID:9005492 Marfan Lipodystrophy Syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME PMID:25741868 10055042 CV197691 NM_000138.5(FBN1):c.4586C>A (p.Thr1529Asn) variant DOID:9007706 MASS Syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: MASS PHENOTYPE PMID:25741868 10055043 CV197690 NM_000138.5(FBN1):c.4621C>T (p.Arg1541Ter) variant DOID:0070234 Loeys-Dietz syndrome 2 IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections PMID:10647894|PMID:11700157|PMID:11933199|PMID:12068374|PMID:12161601|PMID:12700307|PMID:16220557|PMID:16222657|PMID:17657824|PMID:18435798|PMID:19293843|PMID:23684891|PMID:25741868|PMID:28492532 10055043 CV197690 NM_000138.5(FBN1):c.4621C>T (p.Arg1541Ter) variant DOID:0111150 autosomal dominant isolated ectopia lentis 1 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Ectopia lentis 1, isolated, autosomal dominant PMID:10647894|PMID:11700157|PMID:11933199|PMID:12068374|PMID:12161601|PMID:12700307|PMID:16220557|PMID:16222657|PMID:17657824|PMID:18435798|PMID:19293843|PMID:23684891|PMID:25741868|PMID:28492532 10055043 CV197690 NM_000138.5(FBN1):c.4621C>T (p.Arg1541Ter) variant DOID:0111243 acromicric dysplasia IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Acromicric skeletal dysplasia PMID:10647894|PMID:11700157|PMID:11933199|PMID:12068374|PMID:12161601|PMID:12700307|PMID:16220557|PMID:16222657|PMID:17657824|PMID:18435798|PMID:19293843|PMID:23684891|PMID:25741868|PMID:28492532 10055043 CV197690 NM_000138.5(FBN1):c.4621C>T (p.Arg1541Ter) variant DOID:0111561 stiff skin syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Stiff skin syndrome PMID:10647894|PMID:11700157|PMID:11933199|PMID:12068374|PMID:12161601|PMID:12700307|PMID:16220557|PMID:16222657|PMID:17657824|PMID:18435798|PMID:19293843|PMID:23684891|PMID:25741868|PMID:28492532 10055043 CV197690 NM_000138.5(FBN1):c.4621C>T (p.Arg1541Ter) variant DOID:0111726 geleophysic dysplasia 2 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Geleophysic dysplasia 2 PMID:10647894|PMID:11700157|PMID:11933199|PMID:12068374|PMID:12161601|PMID:12700307|PMID:16220557|PMID:16222657|PMID:17657824|PMID:18435798|PMID:19293843|PMID:23684891|PMID:25741868|PMID:28492532 10055043 CV197690 NM_000138.5(FBN1):c.4621C>T (p.Arg1541Ter) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10647894|PMID:11700157|PMID:11933199|PMID:12068374|PMID:12161601|PMID:12700307|PMID:16220557|PMID:16222657|PMID:17657824|PMID:18435798|PMID:19293843|PMID:23684891|PMID:25741868|PMID:28492532 10055043 CV197690 NM_000138.5(FBN1):c.4621C>T (p.Arg1541Ter) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:10647894|PMID:11700157|PMID:11933199|PMID:12068374|PMID:12161601|PMID:12700307|PMID:16220557|PMID:16222657|PMID:17657824|PMID:18435798|PMID:19293843|PMID:23684891|PMID:25741868|PMID:28492532 10055043 CV197690 NM_000138.5(FBN1):c.4621C>T (p.Arg1541Ter) variant DOID:9001464 Weill-Marchesani Syndrome 2 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Weill-Marchesani syndrome 2 PMID:10647894|PMID:11700157|PMID:11933199|PMID:12068374|PMID:12161601|PMID:12700307|PMID:16220557|PMID:16222657|PMID:17657824|PMID:18435798|PMID:19293843|PMID:23684891|PMID:25741868|PMID:28492532 10055043 CV197690 NM_000138.5(FBN1):c.4621C>T (p.Arg1541Ter) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:10647894|PMID:11700157|PMID:11933199|PMID:12068374|PMID:12161601|PMID:12700307|PMID:16220557|PMID:16222657|PMID:17657824|PMID:18435798|PMID:19293843|PMID:23684891|PMID:25741868|PMID:28492532 10055043 CV197690 NM_000138.5(FBN1):c.4621C>T (p.Arg1541Ter) variant DOID:9005492 Marfan Lipodystrophy Syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME PMID:10647894|PMID:11700157|PMID:11933199|PMID:12068374|PMID:12161601|PMID:12700307|PMID:16220557|PMID:16222657|PMID:17657824|PMID:18435798|PMID:19293843|PMID:23684891|PMID:25741868|PMID:28492532 10055043 CV197690 NM_000138.5(FBN1):c.4621C>T (p.Arg1541Ter) variant DOID:9007706 MASS Syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: OVERLAP CONNECTIVE TISSUE DISEASE PMID:10647894|PMID:11700157|PMID:11933199|PMID:12068374|PMID:12161601|PMID:12700307|PMID:16220557|PMID:16222657|PMID:17657824|PMID:18435798|PMID:19293843|PMID:23684891|PMID:25741868|PMID:28492532 10055044 CV197689 NM_000138.5(FBN1):c.4648A>T (p.Ser1550Cys) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868 10055045 CV197688 NM_000138.5(FBN1):c.4727T>C (p.Met1576Thr) variant DOID:0111150 autosomal dominant isolated ectopia lentis 1 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Ectopia lentis 1, isolated, autosomal dominant PMID:16220557|PMID:19012347|PMID:21883168|PMID:24033266|PMID:24833718|PMID:25741868|PMID:26333736|PMID:28492532|PMID:28659821|PMID:31163209|PMID:31211626|PMID:37684520 10055045 CV197688 NM_000138.5(FBN1):c.4727T>C (p.Met1576Thr) variant DOID:0111243 acromicric dysplasia IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Acromicric skeletal dysplasia PMID:16220557|PMID:19012347|PMID:21883168|PMID:24033266|PMID:24833718|PMID:25741868|PMID:26333736|PMID:28492532|PMID:28659821|PMID:31163209|PMID:31211626|PMID:37684520 10055045 CV197688 NM_000138.5(FBN1):c.4727T>C (p.Met1576Thr) variant DOID:0111561 stiff skin syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Stiff skin syndrome PMID:16220557|PMID:19012347|PMID:21883168|PMID:24033266|PMID:24833718|PMID:25741868|PMID:26333736|PMID:28492532|PMID:28659821|PMID:31163209|PMID:31211626|PMID:37684520 10055045 CV197688 NM_000138.5(FBN1):c.4727T>C (p.Met1576Thr) variant DOID:0111726 geleophysic dysplasia 2 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Geleophysic dysplasia 2 PMID:16220557|PMID:19012347|PMID:21883168|PMID:24033266|PMID:24833718|PMID:25741868|PMID:26333736|PMID:28492532|PMID:28659821|PMID:31163209|PMID:31211626|PMID:37684520 10055045 CV197688 NM_000138.5(FBN1):c.4727T>C (p.Met1576Thr) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:16220557|PMID:19012347|PMID:21883168|PMID:24033266|PMID:24833718|PMID:25741868|PMID:26333736|PMID:28492532|PMID:28659821|PMID:31163209|PMID:31211626|PMID:37684520 10055045 CV197688 NM_000138.5(FBN1):c.4727T>C (p.Met1576Thr) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:16220557|PMID:19012347|PMID:21883168|PMID:24033266|PMID:24833718|PMID:25741868|PMID:26333736|PMID:28492532|PMID:28659821|PMID:31163209|PMID:31211626|PMID:37684520 10055045 CV197688 NM_000138.5(FBN1):c.4727T>C (p.Met1576Thr) variant DOID:9001464 Weill-Marchesani Syndrome 2 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Weill-Marchesani Syndrome, Autosomal Dominant PMID:16220557|PMID:19012347|PMID:21883168|PMID:24033266|PMID:24833718|PMID:25741868|PMID:26333736|PMID:28492532|PMID:28659821|PMID:31163209|PMID:31211626|PMID:37684520 10055045 CV197688 NM_000138.5(FBN1):c.4727T>C (p.Met1576Thr) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:16220557|PMID:19012347|PMID:21883168|PMID:24033266|PMID:24833718|PMID:25741868|PMID:26333736|PMID:28492532|PMID:28659821|PMID:31163209|PMID:31211626|PMID:37684520 10055045 CV197688 NM_000138.5(FBN1):c.4727T>C (p.Met1576Thr) variant DOID:9005492 Marfan Lipodystrophy Syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME PMID:16220557|PMID:19012347|PMID:21883168|PMID:24033266|PMID:24833718|PMID:25741868|PMID:26333736|PMID:28492532|PMID:28659821|PMID:31163209|PMID:31211626|PMID:37684520 10055045 CV197688 NM_000138.5(FBN1):c.4727T>C (p.Met1576Thr) variant DOID:9007706 MASS Syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Overlap connective tissue disease PMID:16220557|PMID:19012347|PMID:21883168|PMID:24033266|PMID:24833718|PMID:25741868|PMID:26333736|PMID:28492532|PMID:28659821|PMID:31163209|PMID:31211626|PMID:37684520 10055046 CV197687 NM_000138.5(FBN1):c.4738G>A (p.Val1580Met) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection PMID:25741868|PMID:28492532 10055046 CV197687 NM_000138.5(FBN1):c.4738G>A (p.Val1580Met) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868|PMID:28492532 10055046 CV197687 NM_000138.5(FBN1):c.4738G>A (p.Val1580Met) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:25741868|PMID:28492532 10055047 CV197686 NM_000138.5(FBN1):c.4888C>T (p.Gln1630Ter) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:17657824|PMID:19293843|PMID:28492532|PMID:30773290 10055050 CV197681 NM_000138.5(FBN1):c.5097C>G (p.Tyr1699Ter) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:17657824|PMID:19293843|PMID:28492532 10055051 CV197678 NM_000138.5(FBN1):c.5208T>A (p.Cys1736Ter) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:16756980 10055051 CV197678 NM_000138.5(FBN1):c.5208T>A (p.Cys1736Ter) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:16756980 10055051 CV197678 NM_000138.5(FBN1):c.5208T>A (p.Cys1736Ter) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:16756980 10055054 CV197677 NM_000138.5(FBN1):c.5431G>A (p.Glu1811Lys) variant DOID:0070234 Loeys-Dietz syndrome 2 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections PMID:17627385|PMID:17657824|PMID:18435798|PMID:23684891|PMID:23744319|PMID:25741868|PMID:26272055|PMID:28492532|PMID:31211624|PMID:32679894|PMID:33648514|PMID:37558401 10055054 CV197677 NM_000138.5(FBN1):c.5431G>A (p.Glu1811Lys) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:17627385|PMID:17657824|PMID:18435798|PMID:23684891|PMID:23744319|PMID:25741868|PMID:26272055|PMID:28492532|PMID:31211624|PMID:32679894|PMID:33648514|PMID:37558401 10055054 CV197677 NM_000138.5(FBN1):c.5431G>A (p.Glu1811Lys) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:17627385|PMID:17657824|PMID:18435798|PMID:23684891|PMID:23744319|PMID:25741868|PMID:26272055|PMID:28492532|PMID:31211624|PMID:32679894|PMID:33648514|PMID:37558401 10055054 CV197677 NM_000138.5(FBN1):c.5431G>A (p.Glu1811Lys) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:17627385|PMID:17657824|PMID:18435798|PMID:23684891|PMID:23744319|PMID:25741868|PMID:26272055|PMID:28492532|PMID:31211624|PMID:32679894|PMID:33648514|PMID:37558401 10055055 CV197676 NM_000138.5(FBN1):c.5443G>A (p.Gly1815Ser) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:27930701|PMID:28492532|PMID:31227806|PMID:32655337 10055055 CV197676 NM_000138.5(FBN1):c.5443G>A (p.Gly1815Ser) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868|PMID:27930701|PMID:28492532|PMID:31227806|PMID:32655337 10055055 CV197676 NM_000138.5(FBN1):c.5443G>A (p.Gly1815Ser) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:25741868|PMID:27930701|PMID:28492532|PMID:31227806|PMID:32655337 10055056 CV197675 NM_000138.5(FBN1):c.5513G>A (p.Gly1838Asp) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868|PMID:28492532 10055057 CV197674 NM_000138.5(FBN1):c.5699G>A (p.Cys1900Tyr) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:16222657|PMID:16571647|PMID:16905551|PMID:17701892|PMID:18435798|PMID:19293843|PMID:19349279|PMID:19839986|PMID:21542060|PMID:22772377|PMID:28492532 10055060 CV197669 NM_000138.5(FBN1):c.5801G>A (p.Cys1934Tyr) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:16571647|PMID:16905551|PMID:17701892|PMID:18435798|PMID:19349279|PMID:21542060|PMID:25907466|PMID:28492532 10055062 CV197664 NM_000138.5(FBN1):c.5918A>G (p.Asp1973Gly) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:28492532|PMID:30008475 10055062 CV197664 NM_000138.5(FBN1):c.5918A>G (p.Asp1973Gly) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:28492532|PMID:30008475 10055062 CV197664 NM_000138.5(FBN1):c.5918A>G (p.Asp1973Gly) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:28492532|PMID:30008475 10055064 CV197660 NM_000138.5(FBN1):c.6052G>A (p.Val2018Ile) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:11875032|PMID:15743917|PMID:17024364|PMID:25741868|PMID:28492532|PMID:30019023|PMID:31227806 10055064 CV197660 NM_000138.5(FBN1):c.6052G>A (p.Val2018Ile) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Marfan's syndrome PMID:11875032|PMID:15743917|PMID:17024364|PMID:25741868|PMID:28492532|PMID:30019023|PMID:31227806 10055064 CV197660 NM_000138.5(FBN1):c.6052G>A (p.Val2018Ile) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:11875032|PMID:15743917|PMID:17024364|PMID:25741868|PMID:28492532|PMID:30019023|PMID:31227806 10055065 CV197657 NM_000138.5(FBN1):c.6164-3C>T variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:25834947|PMID:28492532|PMID:32123317 10055065 CV197657 NM_000138.5(FBN1):c.6164-3C>T variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868|PMID:25834947|PMID:28492532|PMID:32123317 10055065 CV197657 NM_000138.5(FBN1):c.6164-3C>T variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:25741868|PMID:25834947|PMID:28492532|PMID:32123317 10055067 CV197655 NM_000138.5(FBN1):c.6169C>T (p.Arg2057Ter) variant DOID:0070234 Loeys-Dietz syndrome 2 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections PMID:10464652|PMID:12068374|PMID:17657824|PMID:19293843|PMID:25741868|PMID:27229674|PMID:28492532|PMID:31730815 10055067 CV197655 NM_000138.5(FBN1):c.6169C>T (p.Arg2057Ter) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection PMID:10464652|PMID:12068374|PMID:17657824|PMID:19293843|PMID:25741868|PMID:27229674|PMID:28492532|PMID:31730815 10055067 CV197655 NM_000138.5(FBN1):c.6169C>T (p.Arg2057Ter) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:10464652|PMID:12068374|PMID:17657824|PMID:19293843|PMID:25741868|PMID:27229674|PMID:28492532|PMID:31730815 10055067 CV197655 NM_000138.5(FBN1):c.6169C>T (p.Arg2057Ter) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:10464652|PMID:12068374|PMID:17657824|PMID:19293843|PMID:25741868|PMID:27229674|PMID:28492532|PMID:31730815 10055070 CV197652 NM_000138.5(FBN1):c.6274T>C (p.Trp2092Arg) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868 10055072 CV197649 NM_000138.5(FBN1):c.6403G>A (p.Asp2135Asn) variant DOID:0111150 autosomal dominant isolated ectopia lentis 1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ectopia lentis, isolated, autosomal dominant PMID:25741868|PMID:28492532 10055072 CV197649 NM_000138.5(FBN1):c.6403G>A (p.Asp2135Asn) variant DOID:0111243 acromicric dysplasia IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Acromicric skeletal dysplasia PMID:25741868|PMID:28492532 10055072 CV197649 NM_000138.5(FBN1):c.6403G>A (p.Asp2135Asn) variant DOID:0111561 stiff skin syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Stiff skin syndrome PMID:25741868|PMID:28492532 10055072 CV197649 NM_000138.5(FBN1):c.6403G>A (p.Asp2135Asn) variant DOID:0111726 geleophysic dysplasia 2 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Geleophysic dysplasia 2 PMID:25741868|PMID:28492532 10055072 CV197649 NM_000138.5(FBN1):c.6403G>A (p.Asp2135Asn) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10055072 CV197649 NM_000138.5(FBN1):c.6403G>A (p.Asp2135Asn) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868|PMID:28492532 10055072 CV197649 NM_000138.5(FBN1):c.6403G>A (p.Asp2135Asn) variant DOID:9001464 Weill-Marchesani Syndrome 2 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Weill-Marchesani syndrome 2 PMID:25741868|PMID:28492532 10055072 CV197649 NM_000138.5(FBN1):c.6403G>A (p.Asp2135Asn) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:25741868|PMID:28492532 10055072 CV197649 NM_000138.5(FBN1):c.6403G>A (p.Asp2135Asn) variant DOID:9005492 Marfan Lipodystrophy Syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME PMID:25741868|PMID:28492532 10055072 CV197649 NM_000138.5(FBN1):c.6403G>A (p.Asp2135Asn) variant DOID:9007706 MASS Syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Overlap connective tissue disease PMID:25741868|PMID:28492532 10055073 CV197647 NM_000138.5(FBN1):c.6416A>G (p.His2139Arg) variant DOID:0111150 autosomal dominant isolated ectopia lentis 1 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Ectopia lentis 1, isolated, autosomal dominant PMID:25741868|PMID:28492532|PMID:35877578 10055073 CV197647 NM_000138.5(FBN1):c.6416A>G (p.His2139Arg) variant DOID:0111243 acromicric dysplasia IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Acromicric dysplasia PMID:25741868|PMID:28492532|PMID:35877578 10055073 CV197647 NM_000138.5(FBN1):c.6416A>G (p.His2139Arg) variant DOID:0111561 stiff skin syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Stiff skin syndrome PMID:25741868|PMID:28492532|PMID:35877578 10055073 CV197647 NM_000138.5(FBN1):c.6416A>G (p.His2139Arg) variant DOID:0111726 geleophysic dysplasia 2 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Geleophysic dysplasia 2 PMID:25741868|PMID:28492532|PMID:35877578 10055073 CV197647 NM_000138.5(FBN1):c.6416A>G (p.His2139Arg) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532|PMID:35877578 10055073 CV197647 NM_000138.5(FBN1):c.6416A>G (p.His2139Arg) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868|PMID:28492532|PMID:35877578 10055073 CV197647 NM_000138.5(FBN1):c.6416A>G (p.His2139Arg) variant DOID:9001464 Weill-Marchesani Syndrome 2 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Weill-Marchesani syndrome 2 PMID:25741868|PMID:28492532|PMID:35877578 10055073 CV197647 NM_000138.5(FBN1):c.6416A>G (p.His2139Arg) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:25741868|PMID:28492532|PMID:35877578 10055073 CV197647 NM_000138.5(FBN1):c.6416A>G (p.His2139Arg) variant DOID:9005492 Marfan Lipodystrophy Syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME PMID:25741868|PMID:28492532|PMID:35877578 10055073 CV197647 NM_000138.5(FBN1):c.6416A>G (p.His2139Arg) variant DOID:9007706 MASS Syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Overlap connective tissue disease PMID:25741868|PMID:28492532|PMID:35877578 10055074 CV197646 NM_000138.5(FBN1):c.6418G>A (p.Gly2140Arg) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:19802897|PMID:25944730|PMID:28492532 10055075 CV197644 NM_000138.5(FBN1):c.6448C>T (p.Arg2150Cys) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:19161152|PMID:25741868|PMID:26332594|PMID:28492532|PMID:28973303|PMID:31098894|PMID:31730815|PMID:33059708|PMID:37558401 10055075 CV197644 NM_000138.5(FBN1):c.6448C>T (p.Arg2150Cys) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:19161152|PMID:25741868|PMID:26332594|PMID:28492532|PMID:28973303|PMID:31098894|PMID:31730815|PMID:33059708|PMID:37558401 10055075 CV197644 NM_000138.5(FBN1):c.6448C>T (p.Arg2150Cys) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:19161152|PMID:25741868|PMID:26332594|PMID:28492532|PMID:28973303|PMID:31098894|PMID:31730815|PMID:33059708|PMID:37558401 10055076 CV197643 NM_000138.5(FBN1):c.6449G>T (p.Arg2150Leu) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532|PMID:28973303|PMID:31098894|PMID:31730815 10055076 CV197643 NM_000138.5(FBN1):c.6449G>T (p.Arg2150Leu) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868|PMID:28492532|PMID:28973303|PMID:31098894|PMID:31730815 10055076 CV197643 NM_000138.5(FBN1):c.6449G>T (p.Arg2150Leu) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:25741868|PMID:28492532|PMID:28973303|PMID:31098894|PMID:31730815 10055078 CV197640 NM_000138.5(FBN1):c.6496G>A (p.Asp2166Asn) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:17576681|PMID:19293843|PMID:21542060|PMID:25741868|PMID:25907466|PMID:27906200|PMID:28492532|PMID:35058154|PMID:9536098 10055078 CV197640 NM_000138.5(FBN1):c.6496G>A (p.Asp2166Asn) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:17576681|PMID:19293843|PMID:21542060|PMID:25741868|PMID:25907466|PMID:27906200|PMID:28492532|PMID:35058154|PMID:9536098 10055078 CV197640 NM_000138.5(FBN1):c.6496G>A (p.Asp2166Asn) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:17576681|PMID:19293843|PMID:21542060|PMID:25741868|PMID:25907466|PMID:27906200|PMID:28492532|PMID:35058154|PMID:9536098 10055080 CV197636 NM_000138.5(FBN1):c.6628T>C (p.Cys2210Arg) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:24793577|PMID:27724990 10055081 CV197634 NM_000138.5(FBN1):c.6650G>A (p.Cys2217Tyr) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:16571647|PMID:16905551|PMID:17701892|PMID:19349279|PMID:26770496|PMID:28492532 10055082 CV197632 NM_000138.5(FBN1):c.6697C>T (p.Pro2233Ser) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:24199744|PMID:25741868|PMID:28492532|PMID:33059708 10055082 CV197632 NM_000138.5(FBN1):c.6697C>T (p.Pro2233Ser) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:24199744|PMID:25741868|PMID:28492532|PMID:33059708 10055082 CV197632 NM_000138.5(FBN1):c.6697C>T (p.Pro2233Ser) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:24199744|PMID:25741868|PMID:28492532|PMID:33059708 10055083 CV197630 NM_000138.5(FBN1):c.6707A>T (p.Tyr2236Phe) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10055083 CV197630 NM_000138.5(FBN1):c.6707A>T (p.Tyr2236Phe) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868|PMID:28492532 10055083 CV197630 NM_000138.5(FBN1):c.6707A>T (p.Tyr2236Phe) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:25741868|PMID:28492532 10055084 CV197628 NM_000138.5(FBN1):c.6752G>A (p.Cys2251Tyr) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:12402346|PMID:16571647|PMID:16905551|PMID:17701892|PMID:19349279|PMID:28492532 10055086 CV197626 NM_000138.5(FBN1):c.6871+1G>T variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:16199547|PMID:17657824|PMID:19293843|PMID:28492532 10055087 CV197625 NM_000138.5(FBN1):c.6872-9A>G variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:28492532 10055088 CV197624 NM_000138.5(FBN1):c.6917G>A (p.Arg2306His) variant DOID:0111243 acromicric dysplasia IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Acromicric skeletal dysplasia PMID:25741868|PMID:28492532|PMID:31730815 10055088 CV197624 NM_000138.5(FBN1):c.6917G>A (p.Arg2306His) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection PMID:25741868|PMID:28492532|PMID:31730815 10055088 CV197624 NM_000138.5(FBN1):c.6917G>A (p.Arg2306His) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868|PMID:28492532|PMID:31730815 10055088 CV197624 NM_000138.5(FBN1):c.6917G>A (p.Arg2306His) variant DOID:65 connective tissue disease IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Connective tissue disease PMID:25741868|PMID:28492532|PMID:31730815 10055088 CV197624 NM_000138.5(FBN1):c.6917G>A (p.Arg2306His) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:25741868|PMID:28492532|PMID:31730815 10055090 CV197621 NM_000138.5(FBN1):c.6959A>T (p.Asp2320Val) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:28492532 10055091 CV197620 NM_000138.5(FBN1):c.7003C>T (p.Arg2335Trp) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection PMID:12203992|PMID:16342915|PMID:20135580|PMID:25741868|PMID:28492532|PMID:29357934|PMID:32123317|PMID:35008861|PMID:36449672|PMID:36517271 10055091 CV197620 NM_000138.5(FBN1):c.7003C>T (p.Arg2335Trp) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:12203992|PMID:16342915|PMID:20135580|PMID:25741868|PMID:28492532|PMID:29357934|PMID:32123317|PMID:35008861|PMID:36449672|PMID:36517271 10055091 CV197620 NM_000138.5(FBN1):c.7003C>T (p.Arg2335Trp) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:12203992|PMID:16342915|PMID:20135580|PMID:25741868|PMID:28492532|PMID:29357934|PMID:32123317|PMID:35008861|PMID:36449672|PMID:36517271 10055092 CV197618 NM_000138.5(FBN1):c.7048A>G (p.Ile2350Val) variant DOID:0050466 Loeys-Dietz syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Loeys-Dietz syndrome PMID:25741868|PMID:28492532 10055092 CV197618 NM_000138.5(FBN1):c.7048A>G (p.Ile2350Val) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868|PMID:28492532 10055093 CV197617 NM_000138.5(FBN1):c.7051G>A (p.Gly2351Ser) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:26928463|PMID:28492532|PMID:31296287 10055093 CV197617 NM_000138.5(FBN1):c.7051G>A (p.Gly2351Ser) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20201006 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868|PMID:26928463|PMID:28492532|PMID:31296287 10055093 CV197617 NM_000138.5(FBN1):c.7051G>A (p.Gly2351Ser) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:25741868|PMID:26928463|PMID:28492532|PMID:31296287 10055094 CV197616 NM_000138.5(FBN1):c.7082C>G (p.Ser2361Trp) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868|PMID:28492532|PMID:31227806 10055095 CV197614 NM_000138.5(FBN1):c.7111T>C (p.Trp2371Arg) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:19839986|PMID:28492532 10055096 CV197613 NM_000138.5(FBN1):c.7125T>A (p.Cys2375Ter) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:17657824|PMID:19293843|PMID:28492532 10055097 CV197610 NM_000138.5(FBN1):c.7205-1G>A variant DOID:0070234 Loeys-Dietz syndrome 2 IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections PMID:16199547|PMID:17657824|PMID:19293843|PMID:26787436|PMID:28492532|PMID:33483584 10055097 CV197610 NM_000138.5(FBN1):c.7205-1G>A variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:16199547|PMID:17657824|PMID:19293843|PMID:26787436|PMID:28492532|PMID:33483584 10055099 CV197611 NM_000138.5(FBN1):c.7199G>A (p.Gly2400Glu) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:28492532 10055100 CV197609 NM_000138.5(FBN1):c.7246G>A (p.Gly2416Arg) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:26272055|PMID:28492532 10055101 CV197608 NM_000138.5(FBN1):c.7253G>A (p.Cys2418Tyr) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:16571647|PMID:16677079|PMID:16905551|PMID:17701892|PMID:19349279|PMID:25741868|PMID:28492532|PMID:32679894|PMID:33174221|PMID:4750422 10055101 CV197608 NM_000138.5(FBN1):c.7253G>A (p.Cys2418Tyr) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:16571647|PMID:16677079|PMID:16905551|PMID:17701892|PMID:19349279|PMID:25741868|PMID:28492532|PMID:32679894|PMID:33174221|PMID:4750422 10055101 CV197608 NM_000138.5(FBN1):c.7253G>A (p.Cys2418Tyr) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:16571647|PMID:16677079|PMID:16905551|PMID:17701892|PMID:19349279|PMID:25741868|PMID:28492532|PMID:32679894|PMID:33174221|PMID:4750422 10055102 CV197607 NM_000138.5(FBN1):c.7267G>T (p.Gly2423Ter) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868 10055103 CV197606 NM_000138.5(FBN1):c.7384A>G (p.Thr2462Ala) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868|PMID:28492532 10055104 CV197605 NM_000138.5(FBN1):c.7430A>G (p.Gln2477Arg) variant DOID:0111150 autosomal dominant isolated ectopia lentis 1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ectopia lentis, isolated, autosomal dominant PMID:25741868|PMID:28492532 10055104 CV197605 NM_000138.5(FBN1):c.7430A>G (p.Gln2477Arg) variant DOID:0111243 acromicric dysplasia IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Acromicric skeletal dysplasia PMID:25741868|PMID:28492532 10055104 CV197605 NM_000138.5(FBN1):c.7430A>G (p.Gln2477Arg) variant DOID:0111561 stiff skin syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Stiff skin syndrome PMID:25741868|PMID:28492532 10055104 CV197605 NM_000138.5(FBN1):c.7430A>G (p.Gln2477Arg) variant DOID:0111726 geleophysic dysplasia 2 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Geleophysic dysplasia 2 PMID:25741868|PMID:28492532 10055104 CV197605 NM_000138.5(FBN1):c.7430A>G (p.Gln2477Arg) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and aortic dissections PMID:25741868|PMID:28492532 10055104 CV197605 NM_000138.5(FBN1):c.7430A>G (p.Gln2477Arg) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868|PMID:28492532 10055104 CV197605 NM_000138.5(FBN1):c.7430A>G (p.Gln2477Arg) variant DOID:9001464 Weill-Marchesani Syndrome 2 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Weill-Marchesani syndrome 2 PMID:25741868|PMID:28492532 10055104 CV197605 NM_000138.5(FBN1):c.7430A>G (p.Gln2477Arg) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:25741868|PMID:28492532 10055104 CV197605 NM_000138.5(FBN1):c.7430A>G (p.Gln2477Arg) variant DOID:9005492 Marfan Lipodystrophy Syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME PMID:25741868|PMID:28492532 10055104 CV197605 NM_000138.5(FBN1):c.7430A>G (p.Gln2477Arg) variant DOID:9007706 MASS Syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Overlap connective tissue disease PMID:25741868|PMID:28492532 10055105 CV197603 NM_000138.5(FBN1):c.7529A>G (p.Lys2510Arg) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532|PMID:35830949 10055105 CV197603 NM_000138.5(FBN1):c.7529A>G (p.Lys2510Arg) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868|PMID:28492532|PMID:35830949 10055105 CV197603 NM_000138.5(FBN1):c.7529A>G (p.Lys2510Arg) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:25741868|PMID:28492532|PMID:35830949 10055106 CV197602 NM_000138.5(FBN1):c.7531T>C (p.Cys2511Arg) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10756346|PMID:16571647|PMID:16905551|PMID:17701892|PMID:19349279|PMID:21542060|PMID:28492532|PMID:9401003 10055106 CV197602 NM_000138.5(FBN1):c.7531T>C (p.Cys2511Arg) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:10756346|PMID:16571647|PMID:16905551|PMID:17701892|PMID:19349279|PMID:21542060|PMID:28492532|PMID:9401003 10055106 CV197602 NM_000138.5(FBN1):c.7531T>C (p.Cys2511Arg) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:10756346|PMID:16571647|PMID:16905551|PMID:17701892|PMID:19349279|PMID:21542060|PMID:28492532|PMID:9401003 10055107 CV197600 NM_000138.5(FBN1):c.7598A>G (p.Asn2533Ser) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10055107 CV197600 NM_000138.5(FBN1):c.7598A>G (p.Asn2533Ser) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868|PMID:28492532 10055107 CV197600 NM_000138.5(FBN1):c.7598A>G (p.Asn2533Ser) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:25741868|PMID:28492532 10055109 CV197597 NM_000138.5(FBN1):c.7604G>A (p.Cys2535Tyr) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:16571647|PMID:16905551|PMID:17701892|PMID:19349279|PMID:28492532 10055110 CV197596 NM_000138.5(FBN1):c.7624C>T (p.Gln2542Ter) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:17657824|PMID:19293843|PMID:28492532 10055111 CV197595 NM_000138.5(FBN1):c.7775G>A (p.Cys2592Tyr) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:16222657|PMID:16571647|PMID:16905551|PMID:17701892|PMID:19349279|PMID:28492532|PMID:31227806|PMID:31730815 10055111 CV197595 NM_000138.5(FBN1):c.7775G>A (p.Cys2592Tyr) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:16222657|PMID:16571647|PMID:16905551|PMID:17701892|PMID:19349279|PMID:28492532|PMID:31227806|PMID:31730815 10055111 CV197595 NM_000138.5(FBN1):c.7775G>A (p.Cys2592Tyr) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:16222657|PMID:16571647|PMID:16905551|PMID:17701892|PMID:19349279|PMID:28492532|PMID:31227806|PMID:31730815 10055112 CV197594 NM_000138.5(FBN1):c.7819+4A>G variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:17576681|PMID:28492532|PMID:9536098 10055114 CV197590 NM_000138.5(FBN1):c.7916A>G (p.Tyr2639Cys) variant DOID:0070234 Loeys-Dietz syndrome 2 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections PMID:11933199|PMID:19659760|PMID:20200614|PMID:21895641|PMID:23684891|PMID:25741868|PMID:27146836|PMID:28492532 10055114 CV197590 NM_000138.5(FBN1):c.7916A>G (p.Tyr2639Cys) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection PMID:11933199|PMID:19659760|PMID:20200614|PMID:21895641|PMID:23684891|PMID:25741868|PMID:27146836|PMID:28492532 10055114 CV197590 NM_000138.5(FBN1):c.7916A>G (p.Tyr2639Cys) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:11933199|PMID:19659760|PMID:20200614|PMID:21895641|PMID:23684891|PMID:25741868|PMID:27146836|PMID:28492532 10055114 CV197590 NM_000138.5(FBN1):c.7916A>G (p.Tyr2639Cys) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:11933199|PMID:19659760|PMID:20200614|PMID:21895641|PMID:23684891|PMID:25741868|PMID:27146836|PMID:28492532 10055115 CV197589 NM_000138.5(FBN1):c.7994A>G (p.Asn2665Ser) variant DOID:0111150 autosomal dominant isolated ectopia lentis 1 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Ectopia lentis 1, isolated, autosomal dominant PMID:25741868|PMID:28492532 10055115 CV197589 NM_000138.5(FBN1):c.7994A>G (p.Asn2665Ser) variant DOID:0111243 acromicric dysplasia IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Acromicric skeletal dysplasia PMID:25741868|PMID:28492532 10055115 CV197589 NM_000138.5(FBN1):c.7994A>G (p.Asn2665Ser) variant DOID:0111561 stiff skin syndrome IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Stiff skin syndrome PMID:25741868|PMID:28492532 10055115 CV197589 NM_000138.5(FBN1):c.7994A>G (p.Asn2665Ser) variant DOID:0111726 geleophysic dysplasia 2 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Geleophysic dysplasia 2 PMID:25741868|PMID:28492532 10055115 CV197589 NM_000138.5(FBN1):c.7994A>G (p.Asn2665Ser) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10055115 CV197589 NM_000138.5(FBN1):c.7994A>G (p.Asn2665Ser) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868|PMID:28492532 10055115 CV197589 NM_000138.5(FBN1):c.7994A>G (p.Asn2665Ser) variant DOID:9001464 Weill-Marchesani Syndrome 2 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Weill-Marchesani syndrome 2 PMID:25741868|PMID:28492532 10055115 CV197589 NM_000138.5(FBN1):c.7994A>G (p.Asn2665Ser) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:25741868|PMID:28492532 10055115 CV197589 NM_000138.5(FBN1):c.7994A>G (p.Asn2665Ser) variant DOID:9005492 Marfan Lipodystrophy Syndrome IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME PMID:25741868|PMID:28492532 10055115 CV197589 NM_000138.5(FBN1):c.7994A>G (p.Asn2665Ser) variant DOID:9007706 MASS Syndrome IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Overlap connective tissue disease PMID:25741868|PMID:28492532 10055116 CV197588 NM_000138.5(FBN1):c.8005G>T (p.Gly2669Cys) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:19293843|PMID:25652356|PMID:28492532|PMID:38702915 10055116 CV197588 NM_000138.5(FBN1):c.8005G>T (p.Gly2669Cys) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:19293843|PMID:25652356|PMID:28492532|PMID:38702915 10055116 CV197588 NM_000138.5(FBN1):c.8005G>T (p.Gly2669Cys) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:19293843|PMID:25652356|PMID:28492532|PMID:38702915 10055118 CV197585 NM_000138.5(FBN1):c.8038C>T (p.Arg2680Cys) variant DOID:0070234 Loeys-Dietz syndrome 2 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections PMID:10756346|PMID:12938084|PMID:17657824|PMID:25741868|PMID:27582083|PMID:28492532|PMID:37684520|PMID:9399842 10055118 CV197585 NM_000138.5(FBN1):c.8038C>T (p.Arg2680Cys) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection PMID:10756346|PMID:12938084|PMID:17657824|PMID:25741868|PMID:27582083|PMID:28492532|PMID:37684520|PMID:9399842 10055118 CV197585 NM_000138.5(FBN1):c.8038C>T (p.Arg2680Cys) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:10756346|PMID:12938084|PMID:17657824|PMID:25741868|PMID:27582083|PMID:28492532|PMID:37684520|PMID:9399842 10055118 CV197585 NM_000138.5(FBN1):c.8038C>T (p.Arg2680Cys) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:10756346|PMID:12938084|PMID:17657824|PMID:25741868|PMID:27582083|PMID:28492532|PMID:37684520|PMID:9399842 10055119 CV197583 NM_000138.5(FBN1):c.8108G>T (p.Gly2703Val) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532|PMID:31227806 10055119 CV197583 NM_000138.5(FBN1):c.8108G>T (p.Gly2703Val) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Marfan's syndrome PMID:25741868|PMID:28492532|PMID:31227806 10055119 CV197583 NM_000138.5(FBN1):c.8108G>T (p.Gly2703Val) variant DOID:9001464 Weill-Marchesani Syndrome 2 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Weill-Marchesani syndrome 2 PMID:25741868|PMID:28492532|PMID:31227806 10055119 CV197583 NM_000138.5(FBN1):c.8108G>T (p.Gly2703Val) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:25741868|PMID:28492532|PMID:31227806 10055120 CV197579 NM_000138.5(FBN1):c.8226+5G>A variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:17576681|PMID:27884935|PMID:28492532|PMID:9536098 10055121 CV197578 NM_000138.5(FBN1):c.8405G>A (p.Gly2802Asp) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868|PMID:28492532 10055123 CV197576 NM_000138.5(FBN1):c.8449T>G (p.Phe2817Val) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:27906200|PMID:28492532 10055123 CV197576 NM_000138.5(FBN1):c.8449T>G (p.Phe2817Val) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:27906200|PMID:28492532 10055123 CV197576 NM_000138.5(FBN1):c.8449T>G (p.Phe2817Val) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:27906200|PMID:28492532 10055124 CV197575 NM_000138.5(FBN1):c.8461A>C (p.Lys2821Gln) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868 10055124 CV197575 NM_000138.5(FBN1):c.8461A>C (p.Lys2821Gln) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:25741868 10055125 CV197574 NM_000138.5(FBN1):c.8477C>G (p.Thr2826Ser) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:28492532 10055126 CV197573 NM_000138.5(FBN1):c.8480A>C (p.Tyr2827Ser) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10055126 CV197573 NM_000138.5(FBN1):c.8480A>C (p.Tyr2827Ser) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868|PMID:28492532 10055126 CV197573 NM_000138.5(FBN1):c.8480A>C (p.Tyr2827Ser) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:25741868|PMID:28492532 10055127 CV197571 NM_000138.5(FBN1):c.8551A>G (p.Lys2851Glu) variant DOID:0111150 autosomal dominant isolated ectopia lentis 1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ectopia lentis, isolated, autosomal dominant PMID:25741868|PMID:28492532 10055127 CV197571 NM_000138.5(FBN1):c.8551A>G (p.Lys2851Glu) variant DOID:0111243 acromicric dysplasia IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Acromicric skeletal dysplasia PMID:25741868|PMID:28492532 10055127 CV197571 NM_000138.5(FBN1):c.8551A>G (p.Lys2851Glu) variant DOID:0111561 stiff skin syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Stiff skin syndrome PMID:25741868|PMID:28492532 10055127 CV197571 NM_000138.5(FBN1):c.8551A>G (p.Lys2851Glu) variant DOID:0111726 geleophysic dysplasia 2 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Geleophysic dysplasia 2 PMID:25741868|PMID:28492532 10055127 CV197571 NM_000138.5(FBN1):c.8551A>G (p.Lys2851Glu) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection PMID:25741868|PMID:28492532 10055127 CV197571 NM_000138.5(FBN1):c.8551A>G (p.Lys2851Glu) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868|PMID:28492532 10055127 CV197571 NM_000138.5(FBN1):c.8551A>G (p.Lys2851Glu) variant DOID:9001464 Weill-Marchesani Syndrome 2 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Weill-Marchesani syndrome 2 PMID:25741868|PMID:28492532 10055127 CV197571 NM_000138.5(FBN1):c.8551A>G (p.Lys2851Glu) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:25741868|PMID:28492532 10055127 CV197571 NM_000138.5(FBN1):c.8551A>G (p.Lys2851Glu) variant DOID:9005492 Marfan Lipodystrophy Syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME PMID:25741868|PMID:28492532 10055127 CV197571 NM_000138.5(FBN1):c.8551A>G (p.Lys2851Glu) variant DOID:9007706 MASS Syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Overlap connective tissue disease PMID:25741868|PMID:28492532 10055128 CV197570 NM_000138.5(FBN1):c.8579A>G (p.Asp2860Gly) variant DOID:0111150 autosomal dominant isolated ectopia lentis 1 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Ectopia lentis 1, isolated, autosomal dominant PMID:25741868|PMID:28492532|PMID:38534782 10055128 CV197570 NM_000138.5(FBN1):c.8579A>G (p.Asp2860Gly) variant DOID:0111243 acromicric dysplasia IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Acromicric skeletal dysplasia PMID:25741868|PMID:28492532|PMID:38534782 10055128 CV197570 NM_000138.5(FBN1):c.8579A>G (p.Asp2860Gly) variant DOID:0111561 stiff skin syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Stiff skin syndrome PMID:25741868|PMID:28492532|PMID:38534782 10055128 CV197570 NM_000138.5(FBN1):c.8579A>G (p.Asp2860Gly) variant DOID:0111726 geleophysic dysplasia 2 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Geleophysic dysplasia 2 PMID:25741868|PMID:28492532|PMID:38534782 10055128 CV197570 NM_000138.5(FBN1):c.8579A>G (p.Asp2860Gly) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532|PMID:38534782 10055128 CV197570 NM_000138.5(FBN1):c.8579A>G (p.Asp2860Gly) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868|PMID:28492532|PMID:38534782 10055128 CV197570 NM_000138.5(FBN1):c.8579A>G (p.Asp2860Gly) variant DOID:9001464 Weill-Marchesani Syndrome 2 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Weill-Marchesani Syndrome, Autosomal Dominant PMID:25741868|PMID:28492532|PMID:38534782 10055128 CV197570 NM_000138.5(FBN1):c.8579A>G (p.Asp2860Gly) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:25741868|PMID:28492532|PMID:38534782 10055128 CV197570 NM_000138.5(FBN1):c.8579A>G (p.Asp2860Gly) variant DOID:9005492 Marfan Lipodystrophy Syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME PMID:25741868|PMID:28492532|PMID:38534782 10055128 CV197570 NM_000138.5(FBN1):c.8579A>G (p.Asp2860Gly) variant DOID:9007706 MASS Syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: MASS PHENOTYPE PMID:25741868|PMID:28492532|PMID:38534782 10055129 CV197569 NM_000138.5(FBN1):c.8599C>T (p.Gln2867Ter) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:19293843|PMID:24982166 10055131 CV197824 NM_000138.5(FBN1):c.229G>A (p.Gly77Arg) variant DOID:0111150 autosomal dominant isolated ectopia lentis 1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ectopia lentis, isolated, autosomal dominant PMID:25741868|PMID:28492532|PMID:31227806|PMID:32939518 10055131 CV197824 NM_000138.5(FBN1):c.229G>A (p.Gly77Arg) variant DOID:0111243 acromicric dysplasia IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Acromicric skeletal dysplasia PMID:25741868|PMID:28492532|PMID:31227806|PMID:32939518 10055131 CV197824 NM_000138.5(FBN1):c.229G>A (p.Gly77Arg) variant DOID:0111561 stiff skin syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Stiff skin syndrome PMID:25741868|PMID:28492532|PMID:31227806|PMID:32939518 10055131 CV197824 NM_000138.5(FBN1):c.229G>A (p.Gly77Arg) variant DOID:0111726 geleophysic dysplasia 2 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Geleophysic dysplasia 2 PMID:25741868|PMID:28492532|PMID:31227806|PMID:32939518 10055131 CV197824 NM_000138.5(FBN1):c.229G>A (p.Gly77Arg) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532|PMID:31227806|PMID:32939518 10055131 CV197824 NM_000138.5(FBN1):c.229G>A (p.Gly77Arg) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868|PMID:28492532|PMID:31227806|PMID:32939518 10055131 CV197824 NM_000138.5(FBN1):c.229G>A (p.Gly77Arg) variant DOID:9001464 Weill-Marchesani Syndrome 2 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Weill-Marchesani syndrome 2 PMID:25741868|PMID:28492532|PMID:31227806|PMID:32939518 10055131 CV197824 NM_000138.5(FBN1):c.229G>A (p.Gly77Arg) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:25741868|PMID:28492532|PMID:31227806|PMID:32939518 10055131 CV197824 NM_000138.5(FBN1):c.229G>A (p.Gly77Arg) variant DOID:9005492 Marfan Lipodystrophy Syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME PMID:25741868|PMID:28492532|PMID:31227806|PMID:32939518 10055131 CV197824 NM_000138.5(FBN1):c.229G>A (p.Gly77Arg) variant DOID:9007706 MASS Syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Overlap connective tissue disease PMID:25741868|PMID:28492532|PMID:31227806|PMID:32939518 10055132 CV197823 NM_000138.5(FBN1):c.266G>A (p.Cys89Tyr) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:11700157|PMID:12938084|PMID:17253931|PMID:17663468|PMID:19293843|PMID:19720936|PMID:25741868|PMID:25907466|PMID:28492532 10055132 CV197823 NM_000138.5(FBN1):c.266G>A (p.Cys89Tyr) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:11700157|PMID:12938084|PMID:17253931|PMID:17663468|PMID:19293843|PMID:19720936|PMID:25741868|PMID:25907466|PMID:28492532 10055132 CV197823 NM_000138.5(FBN1):c.266G>A (p.Cys89Tyr) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:11700157|PMID:12938084|PMID:17253931|PMID:17663468|PMID:19293843|PMID:19720936|PMID:25741868|PMID:25907466|PMID:28492532 10055133 CV197822 NM_000138.5(FBN1):c.287G>C (p.Arg96Thr) variant DOID:0111561 stiff skin syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Stiff skin syndrome PMID:25741868|PMID:28492532|PMID:33174221|PMID:35535697 10055133 CV197822 NM_000138.5(FBN1):c.287G>C (p.Arg96Thr) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection PMID:25741868|PMID:28492532|PMID:33174221|PMID:35535697 10055133 CV197822 NM_000138.5(FBN1):c.287G>C (p.Arg96Thr) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868|PMID:28492532|PMID:33174221|PMID:35535697 10055133 CV197822 NM_000138.5(FBN1):c.287G>C (p.Arg96Thr) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:25741868|PMID:28492532|PMID:33174221|PMID:35535697 10055135 CV197820 NM_000138.5(FBN1):c.353A>G (p.His118Arg) variant DOID:0111150 autosomal dominant isolated ectopia lentis 1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ectopia lentis, isolated, autosomal dominant PMID:25741868|PMID:28492532 10055135 CV197820 NM_000138.5(FBN1):c.353A>G (p.His118Arg) variant DOID:0111243 acromicric dysplasia IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Acromicric skeletal dysplasia PMID:25741868|PMID:28492532 10055135 CV197820 NM_000138.5(FBN1):c.353A>G (p.His118Arg) variant DOID:0111561 stiff skin syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Stiff skin syndrome PMID:25741868|PMID:28492532 10055135 CV197820 NM_000138.5(FBN1):c.353A>G (p.His118Arg) variant DOID:0111726 geleophysic dysplasia 2 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Geleophysic dysplasia 2 PMID:25741868|PMID:28492532 10055135 CV197820 NM_000138.5(FBN1):c.353A>G (p.His118Arg) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection PMID:25741868|PMID:28492532 10055135 CV197820 NM_000138.5(FBN1):c.353A>G (p.His118Arg) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868|PMID:28492532 10055135 CV197820 NM_000138.5(FBN1):c.353A>G (p.His118Arg) variant DOID:9001464 Weill-Marchesani Syndrome 2 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Weill-Marchesani syndrome 2 PMID:25741868|PMID:28492532 10055135 CV197820 NM_000138.5(FBN1):c.353A>G (p.His118Arg) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:25741868|PMID:28492532 10055135 CV197820 NM_000138.5(FBN1):c.353A>G (p.His118Arg) variant DOID:9005492 Marfan Lipodystrophy Syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME PMID:25741868|PMID:28492532 10055135 CV197820 NM_000138.5(FBN1):c.353A>G (p.His118Arg) variant DOID:9007706 MASS Syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Overlap connective tissue disease PMID:25741868|PMID:28492532 10055141 CV197777 NM_000138.5(FBN1):c.2058_2063del (p.Ser687_Thr688del) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10055141 CV197777 NM_000138.5(FBN1):c.2058_2063del (p.Ser687_Thr688del) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868|PMID:28492532 10055141 CV197777 NM_000138.5(FBN1):c.2058_2063del (p.Ser687_Thr688del) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:25741868|PMID:28492532 10055148 CV197748 NM_000138.5(FBN1):c.2786_2789dup (p.Arg930delinsSerTer) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and aortic dissections 10055149 CV197732 NM_000138.5(FBN1):c.3424_3427dup (p.Gly1143fs) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and aortic dissections 10055151 CV197701 NM_000138.5(FBN1):c.4405del (p.Arg1469fs) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Marfan syndrome 10055151 CV197701 NM_000138.5(FBN1):c.4405del (p.Arg1469fs) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 10055154 CV197668 NM_000138.5(FBN1):c.5817del (p.Asn1940fs) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:17657824|PMID:19159394|PMID:19293843|PMID:28492532|PMID:32679894 10055158 CV197658 NM_000138.5(FBN1):c.6163+2dup variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection PMID:12203992|PMID:17576681|PMID:20301510|PMID:25741868|PMID:27274304|PMID:28492532|PMID:28659821|PMID:29357934|PMID:31950671|PMID:9536098 10055158 CV197658 NM_000138.5(FBN1):c.6163+2dup variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:12203992|PMID:17576681|PMID:20301510|PMID:25741868|PMID:27274304|PMID:28492532|PMID:28659821|PMID:29357934|PMID:31950671|PMID:9536098 10055158 CV197658 NM_000138.5(FBN1):c.6163+2dup variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:12203992|PMID:17576681|PMID:20301510|PMID:25741868|PMID:27274304|PMID:28492532|PMID:28659821|PMID:29357934|PMID:31950671|PMID:9536098 10055162 CV197619 NM_000138.5(FBN1):c.7039_7040del (p.Met2347fs) variant DOID:0070234 Loeys-Dietz syndrome 2 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections PMID:11826022|PMID:17627385|PMID:17657824|PMID:18435798|PMID:19293843|PMID:19618372|PMID:19863550|PMID:25101912|PMID:25741868|PMID:26272055|PMID:26621581|PMID:27112580|PMID:28492532|PMID:29357934 10055162 CV197619 NM_000138.5(FBN1):c.7039_7040del (p.Met2347fs) variant DOID:0080685 aortic dissection IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Acute aortic dissection PMID:11826022|PMID:17627385|PMID:17657824|PMID:18435798|PMID:19293843|PMID:19618372|PMID:19863550|PMID:25101912|PMID:25741868|PMID:26272055|PMID:26621581|PMID:27112580|PMID:28492532|PMID:29357934 10055162 CV197619 NM_000138.5(FBN1):c.7039_7040del (p.Met2347fs) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:11826022|PMID:17627385|PMID:17657824|PMID:18435798|PMID:19293843|PMID:19618372|PMID:19863550|PMID:25101912|PMID:25741868|PMID:26272055|PMID:26621581|PMID:27112580|PMID:28492532|PMID:29357934 10055162 CV197619 NM_000138.5(FBN1):c.7039_7040del (p.Met2347fs) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Marfan's syndrome PMID:11826022|PMID:17627385|PMID:17657824|PMID:18435798|PMID:19293843|PMID:19618372|PMID:19863550|PMID:25101912|PMID:25741868|PMID:26272055|PMID:26621581|PMID:27112580|PMID:28492532|PMID:29357934 10055162 CV197619 NM_000138.5(FBN1):c.7039_7040del (p.Met2347fs) variant DOID:9001464 Weill-Marchesani Syndrome 2 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Weill-Marchesani syndrome 2 PMID:11826022|PMID:17627385|PMID:17657824|PMID:18435798|PMID:19293843|PMID:19618372|PMID:19863550|PMID:25101912|PMID:25741868|PMID:26272055|PMID:26621581|PMID:27112580|PMID:28492532|PMID:29357934 10055162 CV197619 NM_000138.5(FBN1):c.7039_7040del (p.Met2347fs) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:11826022|PMID:17627385|PMID:17657824|PMID:18435798|PMID:19293843|PMID:19618372|PMID:19863550|PMID:25101912|PMID:25741868|PMID:26272055|PMID:26621581|PMID:27112580|PMID:28492532|PMID:29357934 10055162 CV197619 NM_000138.5(FBN1):c.7039_7040del (p.Met2347fs) variant DOID:9008615 Familial Thoracic Aortic Aneurysm 1 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Familial thoracic aortic aneurysm PMID:11826022|PMID:17627385|PMID:17657824|PMID:18435798|PMID:19293843|PMID:19618372|PMID:19863550|PMID:25101912|PMID:25741868|PMID:26272055|PMID:26621581|PMID:27112580|PMID:28492532|PMID:29357934 10055164 CV197582 NM_000138.5(FBN1):c.8154dup (p.Lys2719Ter) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20180807 ClinVar ClinVar Annotator: match by term: Marfan syndrome 10055165 CV197750 NM_000138.5(FBN1):c.2728+1G>C variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:16199547|PMID:17657824|PMID:19293843|PMID:22772377|PMID:28492532 10055165 CV197750 NM_000138.5(FBN1):c.2728+1G>C variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:16199547|PMID:17657824|PMID:19293843|PMID:22772377|PMID:28492532 10055165 CV197750 NM_000138.5(FBN1):c.2728+1G>C variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:16199547|PMID:17657824|PMID:19293843|PMID:22772377|PMID:28492532 10055166 CV197572 NM_000138.5(FBN1):c.8544del (p.Lys2848fs) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:28492532 10055168 CV197806 NM_000138.5(FBN1):c.1147G>A (p.Glu383Lys) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:11700157|PMID:17576681|PMID:19159394|PMID:28492532|PMID:9536098 10055168 CV197806 NM_000138.5(FBN1):c.1147G>A (p.Glu383Lys) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:11700157|PMID:17576681|PMID:19159394|PMID:28492532|PMID:9536098 10055168 CV197806 NM_000138.5(FBN1):c.1147G>A (p.Glu383Lys) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:11700157|PMID:17576681|PMID:19159394|PMID:28492532|PMID:9536098 10055169 CV197803 NM_000138.5(FBN1):c.1265G>A (p.Gly422Glu) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10055169 CV197803 NM_000138.5(FBN1):c.1265G>A (p.Gly422Glu) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868|PMID:28492532 10055169 CV197803 NM_000138.5(FBN1):c.1265G>A (p.Gly422Glu) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:25741868|PMID:28492532 10055170 CV197799 NM_000138.5(FBN1):c.1426T>G (p.Cys476Gly) variant DOID:0070234 Loeys-Dietz syndrome 2 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections PMID:10486319|PMID:16571647|PMID:16905551|PMID:17701892|PMID:19349279|PMID:25741868|PMID:27112580|PMID:28492532|PMID:28941062|PMID:7951214 10055170 CV197799 NM_000138.5(FBN1):c.1426T>G (p.Cys476Gly) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:10486319|PMID:16571647|PMID:16905551|PMID:17701892|PMID:19349279|PMID:25741868|PMID:27112580|PMID:28492532|PMID:28941062|PMID:7951214 10055172 CV197760 NM_000138.5(FBN1):c.2582G>A (p.Arg861Gln) variant DOID:0111150 autosomal dominant isolated ectopia lentis 1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ectopia lentis 1, isolated, autosomal dominant PMID:25741868|PMID:28492532 10055172 CV197760 NM_000138.5(FBN1):c.2582G>A (p.Arg861Gln) variant DOID:0111243 acromicric dysplasia IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Acromicric skeletal dysplasia PMID:25741868|PMID:28492532 10055172 CV197760 NM_000138.5(FBN1):c.2582G>A (p.Arg861Gln) variant DOID:0111561 stiff skin syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Stiff skin syndrome PMID:25741868|PMID:28492532 10055172 CV197760 NM_000138.5(FBN1):c.2582G>A (p.Arg861Gln) variant DOID:0111726 geleophysic dysplasia 2 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Geleophysic dysplasia 2 PMID:25741868|PMID:28492532 10055172 CV197760 NM_000138.5(FBN1):c.2582G>A (p.Arg861Gln) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10055172 CV197760 NM_000138.5(FBN1):c.2582G>A (p.Arg861Gln) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868|PMID:28492532 10055172 CV197760 NM_000138.5(FBN1):c.2582G>A (p.Arg861Gln) variant DOID:9001464 Weill-Marchesani Syndrome 2 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Weill-Marchesani syndrome 2 PMID:25741868|PMID:28492532 10055172 CV197760 NM_000138.5(FBN1):c.2582G>A (p.Arg861Gln) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:25741868|PMID:28492532 10055172 CV197760 NM_000138.5(FBN1):c.2582G>A (p.Arg861Gln) variant DOID:9005492 Marfan Lipodystrophy Syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME PMID:25741868|PMID:28492532 10055172 CV197760 NM_000138.5(FBN1):c.2582G>A (p.Arg861Gln) variant DOID:9007706 MASS Syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Overlap connective tissue disease PMID:25741868|PMID:28492532 10055173 CV197759 NM_000138.5(FBN1):c.2596A>G (p.Ile866Val) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:28492532 10055176 CV197715 NM_000138.5(FBN1):c.3974A>C (p.Glu1325Ala) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868|PMID:28492532 10055177 CV197685 NM_000138.5(FBN1):c.4930C>T (p.Arg1644Ter) variant DOID:0070234 Loeys-Dietz syndrome 2 IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections PMID:11700157|PMID:12068374|PMID:12938084|PMID:14695540|PMID:15241795|PMID:16222657|PMID:16342915|PMID:17253931|PMID:17657824|PMID:17663468|PMID:19159394|PMID:19293843|PMID:19328768|PMID:19839986|PMID:24199744|PMID:25652356|PMID:25656438|PMID:25741868|PMID:26787436|PMID:28492532|PMID:29768367|PMID:31098894|PMID:31536524 10055177 CV197685 NM_000138.5(FBN1):c.4930C>T (p.Arg1644Ter) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm PMID:11700157|PMID:12068374|PMID:12938084|PMID:14695540|PMID:15241795|PMID:16222657|PMID:16342915|PMID:17253931|PMID:17657824|PMID:17663468|PMID:19159394|PMID:19293843|PMID:19328768|PMID:19839986|PMID:24199744|PMID:25652356|PMID:25656438|PMID:25741868|PMID:26787436|PMID:28492532|PMID:29768367|PMID:31098894|PMID:31536524 10055177 CV197685 NM_000138.5(FBN1):c.4930C>T (p.Arg1644Ter) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:11700157|PMID:12068374|PMID:12938084|PMID:14695540|PMID:15241795|PMID:16222657|PMID:16342915|PMID:17253931|PMID:17657824|PMID:17663468|PMID:19159394|PMID:19293843|PMID:19328768|PMID:19839986|PMID:24199744|PMID:25652356|PMID:25656438|PMID:25741868|PMID:26787436|PMID:28492532|PMID:29768367|PMID:31098894|PMID:31536524 10055177 CV197685 NM_000138.5(FBN1):c.4930C>T (p.Arg1644Ter) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:11700157|PMID:12068374|PMID:12938084|PMID:14695540|PMID:15241795|PMID:16222657|PMID:16342915|PMID:17253931|PMID:17657824|PMID:17663468|PMID:19159394|PMID:19293843|PMID:19328768|PMID:19839986|PMID:24199744|PMID:25652356|PMID:25656438|PMID:25741868|PMID:26787436|PMID:28492532|PMID:29768367|PMID:31098894|PMID:31536524 10055178 CV197683 NM_000138.5(FBN1):c.5015G>A (p.Cys1672Tyr) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:18435798 10055179 CV197680 NM_000138.5(FBN1):c.5140A>G (p.Met1714Val) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868 10055179 CV197680 NM_000138.5(FBN1):c.5140A>G (p.Met1714Val) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868 10055179 CV197680 NM_000138.5(FBN1):c.5140A>G (p.Met1714Val) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:25741868 10055180 CV197672 NM_000138.5(FBN1):c.5726T>C (p.Ile1909Thr) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:11700157|PMID:19293843|PMID:21542060|PMID:25741868|PMID:28492532|PMID:31227806|PMID:33230159 10055180 CV197672 NM_000138.5(FBN1):c.5726T>C (p.Ile1909Thr) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:11700157|PMID:19293843|PMID:21542060|PMID:25741868|PMID:28492532|PMID:31227806|PMID:33230159 10055180 CV197672 NM_000138.5(FBN1):c.5726T>C (p.Ile1909Thr) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:11700157|PMID:19293843|PMID:21542060|PMID:25741868|PMID:28492532|PMID:31227806|PMID:33230159 10055181 CV197661 NM_000138.5(FBN1):c.6025G>A (p.Glu2009Lys) variant DOID:0111150 autosomal dominant isolated ectopia lentis 1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Ectopia lentis, isolated, autosomal dominant PMID:25741868|PMID:28492532 10055181 CV197661 NM_000138.5(FBN1):c.6025G>A (p.Glu2009Lys) variant DOID:0111243 acromicric dysplasia IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Acromicric skeletal dysplasia PMID:25741868|PMID:28492532 10055181 CV197661 NM_000138.5(FBN1):c.6025G>A (p.Glu2009Lys) variant DOID:0111561 stiff skin syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Stiff skin syndrome PMID:25741868|PMID:28492532 10055181 CV197661 NM_000138.5(FBN1):c.6025G>A (p.Glu2009Lys) variant DOID:0111726 geleophysic dysplasia 2 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Geleophysic dysplasia 2 PMID:25741868|PMID:28492532 10055181 CV197661 NM_000138.5(FBN1):c.6025G>A (p.Glu2009Lys) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection PMID:25741868|PMID:28492532 10055181 CV197661 NM_000138.5(FBN1):c.6025G>A (p.Glu2009Lys) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868|PMID:28492532 10055181 CV197661 NM_000138.5(FBN1):c.6025G>A (p.Glu2009Lys) variant DOID:9001464 Weill-Marchesani Syndrome 2 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Weill-Marchesani syndrome 2 PMID:25741868|PMID:28492532 10055181 CV197661 NM_000138.5(FBN1):c.6025G>A (p.Glu2009Lys) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:25741868|PMID:28492532 10055181 CV197661 NM_000138.5(FBN1):c.6025G>A (p.Glu2009Lys) variant DOID:9005492 Marfan Lipodystrophy Syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME PMID:25741868|PMID:28492532 10055181 CV197661 NM_000138.5(FBN1):c.6025G>A (p.Glu2009Lys) variant DOID:9007706 MASS Syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Overlap connective tissue disease PMID:25741868|PMID:28492532 10055182 CV197650 NM_000138.5(FBN1):c.6388G>A (p.Glu2130Lys) variant DOID:0111150 autosomal dominant isolated ectopia lentis 1 IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Ectopia lentis 1, isolated, autosomal dominant PMID:17253931|PMID:17663468|PMID:18435798|PMID:19293843|PMID:19533785|PMID:21270786|PMID:25741868|PMID:27582083|PMID:27981572|PMID:28098115|PMID:28492532|PMID:29845260|PMID:31098894|PMID:31825148|PMID:32679894|PMID:34456093|PMID:35058154|PMID:36729443 10055182 CV197650 NM_000138.5(FBN1):c.6388G>A (p.Glu2130Lys) variant DOID:0111243 acromicric dysplasia IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Acromicric skeletal dysplasia PMID:17253931|PMID:17663468|PMID:18435798|PMID:19293843|PMID:19533785|PMID:21270786|PMID:25741868|PMID:27582083|PMID:27981572|PMID:28098115|PMID:28492532|PMID:29845260|PMID:31098894|PMID:31825148|PMID:32679894|PMID:34456093|PMID:35058154|PMID:36729443 10055182 CV197650 NM_000138.5(FBN1):c.6388G>A (p.Glu2130Lys) variant DOID:0111561 stiff skin syndrome IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Stiff skin syndrome PMID:17253931|PMID:17663468|PMID:18435798|PMID:19293843|PMID:19533785|PMID:21270786|PMID:25741868|PMID:27582083|PMID:27981572|PMID:28098115|PMID:28492532|PMID:29845260|PMID:31098894|PMID:31825148|PMID:32679894|PMID:34456093|PMID:35058154|PMID:36729443 10055182 CV197650 NM_000138.5(FBN1):c.6388G>A (p.Glu2130Lys) variant DOID:0111726 geleophysic dysplasia 2 IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Geleophysic dysplasia 2 PMID:17253931|PMID:17663468|PMID:18435798|PMID:19293843|PMID:19533785|PMID:21270786|PMID:25741868|PMID:27582083|PMID:27981572|PMID:28098115|PMID:28492532|PMID:29845260|PMID:31098894|PMID:31825148|PMID:32679894|PMID:34456093|PMID:35058154|PMID:36729443 10055182 CV197650 NM_000138.5(FBN1):c.6388G>A (p.Glu2130Lys) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:17253931|PMID:17663468|PMID:18435798|PMID:19293843|PMID:19533785|PMID:21270786|PMID:25741868|PMID:27582083|PMID:27981572|PMID:28098115|PMID:28492532|PMID:29845260|PMID:31098894|PMID:31825148|PMID:32679894|PMID:34456093|PMID:35058154|PMID:36729443 10055182 CV197650 NM_000138.5(FBN1):c.6388G>A (p.Glu2130Lys) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:17253931|PMID:17663468|PMID:18435798|PMID:19293843|PMID:19533785|PMID:21270786|PMID:25741868|PMID:27582083|PMID:27981572|PMID:28098115|PMID:28492532|PMID:29845260|PMID:31098894|PMID:31825148|PMID:32679894|PMID:34456093|PMID:35058154|PMID:36729443 10055182 CV197650 NM_000138.5(FBN1):c.6388G>A (p.Glu2130Lys) variant DOID:9001464 Weill-Marchesani Syndrome 2 IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Weill-Marchesani Syndrome, Autosomal Dominant PMID:17253931|PMID:17663468|PMID:18435798|PMID:19293843|PMID:19533785|PMID:21270786|PMID:25741868|PMID:27582083|PMID:27981572|PMID:28098115|PMID:28492532|PMID:29845260|PMID:31098894|PMID:31825148|PMID:32679894|PMID:34456093|PMID:35058154|PMID:36729443 10055182 CV197650 NM_000138.5(FBN1):c.6388G>A (p.Glu2130Lys) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:17253931|PMID:17663468|PMID:18435798|PMID:19293843|PMID:19533785|PMID:21270786|PMID:25741868|PMID:27582083|PMID:27981572|PMID:28098115|PMID:28492532|PMID:29845260|PMID:31098894|PMID:31825148|PMID:32679894|PMID:34456093|PMID:35058154|PMID:36729443 10055182 CV197650 NM_000138.5(FBN1):c.6388G>A (p.Glu2130Lys) variant DOID:9005492 Marfan Lipodystrophy Syndrome IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME PMID:17253931|PMID:17663468|PMID:18435798|PMID:19293843|PMID:19533785|PMID:21270786|PMID:25741868|PMID:27582083|PMID:27981572|PMID:28098115|PMID:28492532|PMID:29845260|PMID:31098894|PMID:31825148|PMID:32679894|PMID:34456093|PMID:35058154|PMID:36729443 10055182 CV197650 NM_000138.5(FBN1):c.6388G>A (p.Glu2130Lys) variant DOID:9007706 MASS Syndrome IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: MASS PHENOTYPE PMID:17253931|PMID:17663468|PMID:18435798|PMID:19293843|PMID:19533785|PMID:21270786|PMID:25741868|PMID:27582083|PMID:27981572|PMID:28098115|PMID:28492532|PMID:29845260|PMID:31098894|PMID:31825148|PMID:32679894|PMID:34456093|PMID:35058154|PMID:36729443 10055183 CV197645 NM_000138.5(FBN1):c.6425G>A (p.Cys2142Tyr) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:10425041|PMID:16571647|PMID:16905551|PMID:17701892|PMID:19349279|PMID:20301510|PMID:25741868|PMID:28492532|PMID:29357934|PMID:30087447 10055183 CV197645 NM_000138.5(FBN1):c.6425G>A (p.Cys2142Tyr) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:10425041|PMID:16571647|PMID:16905551|PMID:17701892|PMID:19349279|PMID:20301510|PMID:25741868|PMID:28492532|PMID:29357934|PMID:30087447 10055183 CV197645 NM_000138.5(FBN1):c.6425G>A (p.Cys2142Tyr) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:10425041|PMID:16571647|PMID:16905551|PMID:17701892|PMID:19349279|PMID:20301510|PMID:25741868|PMID:28492532|PMID:29357934|PMID:30087447 10055184 CV197641 NM_000138.5(FBN1):c.6453C>T (p.Cys2151=) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:16199547|PMID:20591885|PMID:21907952|PMID:25652356|PMID:25741868|PMID:26787436|PMID:28492532|PMID:32123317|PMID:32679894 10055186 CV197637 NM_000138.5(FBN1):c.6499A>C (p.Thr2167Pro) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:28492532 10055188 CV197622 NM_000138.5(FBN1):c.6932G>A (p.Arg2311His) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection PMID:25741868|PMID:28492532 10055188 CV197622 NM_000138.5(FBN1):c.6932G>A (p.Arg2311His) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868|PMID:28492532 10055188 CV197622 NM_000138.5(FBN1):c.6932G>A (p.Arg2311His) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:25741868|PMID:28492532 10055189 CV197601 NM_000138.5(FBN1):c.7577A>G (p.Asn2526Ser) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and aortic dissections PMID:17657824|PMID:28492532 10055189 CV197601 NM_000138.5(FBN1):c.7577A>G (p.Asn2526Ser) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:17657824|PMID:28492532 10055189 CV197601 NM_000138.5(FBN1):c.7577A>G (p.Asn2526Ser) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:17657824|PMID:28492532 10055190 CV197592 NM_000138.5(FBN1):c.7832G>A (p.Cys2611Tyr) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:16571647|PMID:16905551|PMID:17701892|PMID:19349279|PMID:25652356|PMID:27724990|PMID:28492532 10055190 CV197592 NM_000138.5(FBN1):c.7832G>A (p.Cys2611Tyr) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:16571647|PMID:16905551|PMID:17701892|PMID:19349279|PMID:25652356|PMID:27724990|PMID:28492532 10055190 CV197592 NM_000138.5(FBN1):c.7832G>A (p.Cys2611Tyr) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:16571647|PMID:16905551|PMID:17701892|PMID:19349279|PMID:25652356|PMID:27724990|PMID:28492532 10055191 CV197591 NM_000138.5(FBN1):c.7877T>A (p.Leu2626Gln) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:28492532 10055192 CV197587 NM_000138.5(FBN1):c.8009A>G (p.Tyr2670Cys) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:28492532 10055193 CV197580 NM_000138.5(FBN1):c.8198C>G (p.Thr2733Arg) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10055193 CV197580 NM_000138.5(FBN1):c.8198C>G (p.Thr2733Arg) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868|PMID:28492532 10055193 CV197580 NM_000138.5(FBN1):c.8198C>G (p.Thr2733Arg) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:25741868|PMID:28492532 10055199 CV197340 NM_000238.4(KCNH2):c.342C>T (p.Pro114=) variant DOID:0110645 long QT syndrome 2 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 PMID:25741868|PMID:28492532 10055199 CV197340 NM_000238.4(KCNH2):c.342C>T (p.Pro114=) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10055199 CV197340 NM_000238.4(KCNH2):c.342C>T (p.Pro114=) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868|PMID:28492532 10055200 CV197328 NM_000238.4(KCNH2):c.524C>A (p.Ala175Asp) variant DOID:0110645 long QT syndrome 2 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 PMID:28492532 10055200 CV197328 NM_000238.4(KCNH2):c.524C>A (p.Ala175Asp) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10055201 CV197327 NM_000238.4(KCNH2):c.558C>T (p.Gly186=) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:26467025|PMID:28492532 10055202 CV197298 NM_000238.4(KCNH2):c.1128+1784C>T variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868|PMID:26467025|PMID:28566242 10055203 CV197293 NM_000238.4(KCNH2):c.1149C>T (p.Asp383=) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10055203 CV197293 NM_000238.4(KCNH2):c.1149C>T (p.Asp383=) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Arrhythmia PMID:25741868|PMID:28492532 10055204 CV197282 NM_000238.4(KCNH2):c.1353G>A (p.Pro451=) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10055204 CV197282 NM_000238.4(KCNH2):c.1353G>A (p.Pro451=) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmias PMID:25741868|PMID:28492532 10055205 CV197272 NM_000238.4(KCNH2):c.1581G>A (p.Ala527=) variant DOID:0110645 long QT syndrome 2 IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 PMID:25741868|PMID:28492532 10055205 CV197272 NM_000238.4(KCNH2):c.1581G>A (p.Ala527=) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10055205 CV197272 NM_000238.4(KCNH2):c.1581G>A (p.Ala527=) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmias PMID:25741868|PMID:28492532 10055206 CV197266 NM_000238.4(KCNH2):c.1683G>A (p.Ala561=) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10055206 CV197266 NM_000238.4(KCNH2):c.1683G>A (p.Ala561=) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Arrhythmia PMID:25741868|PMID:28492532 10055207 CV197263 NM_000238.4(KCNH2):c.1692A>G (p.Leu564=) variant DOID:0110645 long QT syndrome 2 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10055207 CV197263 NM_000238.4(KCNH2):c.1692A>G (p.Leu564=) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10055207 CV197263 NM_000238.4(KCNH2):c.1692A>G (p.Leu564=) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmias PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10055208 CV197235 NM_000238.4(KCNH2):c.1956T>C (p.Tyr652=) variant DOID:0110645 long QT syndrome 2 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 PMID:10807545|PMID:14760488|PMID:17224687|PMID:21063070|PMID:21109023|PMID:21779290|PMID:24033266|PMID:25028483|PMID:25741868|PMID:26467025|PMID:28492532 10055208 CV197235 NM_000238.4(KCNH2):c.1956T>C (p.Tyr652=) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10807545|PMID:14760488|PMID:17224687|PMID:21063070|PMID:21109023|PMID:21779290|PMID:24033266|PMID:25028483|PMID:25741868|PMID:26467025|PMID:28492532 10055208 CV197235 NM_000238.4(KCNH2):c.1956T>C (p.Tyr652=) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmias PMID:10807545|PMID:14760488|PMID:17224687|PMID:21063070|PMID:21109023|PMID:21779290|PMID:24033266|PMID:25028483|PMID:25741868|PMID:26467025|PMID:28492532 10055211 CV197207 NM_000238.4(KCNH2):c.2398+105del variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:24033266|PMID:25741868 10055213 CV197205 NM_000238.4(KCNH2):c.2398+179G>A variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Arrhythmia PMID:25741868 10055214 CV197204 NM_000238.4(KCNH2):c.2398+234C>T variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Arrhythmia PMID:25741868 10055215 CV197201 NM_000238.4(KCNH2):c.2454G>A (p.Ser818=) variant DOID:0110645 long QT syndrome 2 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 PMID:25741868|PMID:28492532 10055215 CV197201 NM_000238.4(KCNH2):c.2454G>A (p.Ser818=) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20200410 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10055215 CV197201 NM_000238.4(KCNH2):c.2454G>A (p.Ser818=) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20200410 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmias PMID:25741868|PMID:28492532 10055216 CV197193 NM_000238.4(KCNH2):c.2607G>A (p.Pro869=) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10055216 CV197193 NM_000238.4(KCNH2):c.2607G>A (p.Pro869=) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Arrhythmia PMID:25741868|PMID:28492532 10055217 CV197164 NM_000238.4(KCNH2):c.2904G>A (p.Pro968=) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10055217 CV197164 NM_000238.4(KCNH2):c.2904G>A (p.Pro968=) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmias PMID:25741868|PMID:28492532 10055217 CV197164 NM_000238.4(KCNH2):c.2904G>A (p.Pro968=) variant DOID:9005764 Short QT Syndrome 1 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: KCNH2-related condition PMID:25741868|PMID:28492532 10055218 CV197157 NM_000238.4(KCNH2):c.2994C>T (p.Phe998=) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10055218 CV197157 NM_000238.4(KCNH2):c.2994C>T (p.Phe998=) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Arrhythmia PMID:25741868|PMID:28492532 10055219 CV197150 NM_000238.4(KCNH2):c.3079C>A (p.Leu1027Ile) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10055219 CV197150 NM_000238.4(KCNH2):c.3079C>A (p.Leu1027Ile) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868|PMID:28492532 10055220 CV197138 NM_000238.4(KCNH2):c.3153-15C>T variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10055220 CV197138 NM_000238.4(KCNH2):c.3153-15C>T variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868|PMID:28492532 10055221 CV197134 NM_000238.4(KCNH2):c.3331-14del variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia 10055223 CV197133 NM_000238.4(KCNH2):c.3331-13del variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia 10055225 CV197130 NM_000238.4(KCNH2):c.3348G>A (p.Ala1116=) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10055225 CV197130 NM_000238.4(KCNH2):c.3348G>A (p.Ala1116=) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Arrhythmia PMID:25741868|PMID:28492532 10055227 CV197371 NM_000238.4(KCNH2):c.51C>G (p.Thr17=) variant DOID:0110645 long QT syndrome 2 IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 PMID:18752142|PMID:25741868|PMID:28492532 10055227 CV197371 NM_000238.4(KCNH2):c.51C>G (p.Thr17=) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:18752142|PMID:25741868|PMID:28492532 10055227 CV197371 NM_000238.4(KCNH2):c.51C>G (p.Thr17=) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmias PMID:18752142|PMID:25741868|PMID:28492532 10055231 CV197335 NM_000238.4(KCNH2):c.387C>G (p.Phe129Leu) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10055232 CV197334 NM_000238.4(KCNH2):c.398T>C (p.Met133Thr) variant DOID:0110645 long QT syndrome 2 IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 PMID:25741868|PMID:28492532|PMID:32893267 10055232 CV197334 NM_000238.4(KCNH2):c.398T>C (p.Met133Thr) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532|PMID:32893267 10055232 CV197334 NM_000238.4(KCNH2):c.398T>C (p.Met133Thr) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868|PMID:28492532|PMID:32893267 10055233 CV197333 NM_000238.4(KCNH2):c.440A>G (p.His147Arg) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10055233 CV197333 NM_000238.4(KCNH2):c.440A>G (p.His147Arg) variant DOID:9005764 Short QT Syndrome 1 IAGP D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Short QT syndrome type 1 PMID:25741868|PMID:28492532 10055234 CV197331 NM_000238.4(KCNH2):c.455C>G (p.Thr152Ser) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10055234 CV197331 NM_000238.4(KCNH2):c.455C>G (p.Thr152Ser) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868|PMID:28492532 10055236 CV197326 NM_000238.4(KCNH2):c.563C>T (p.Ala188Val) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26746457|PMID:28492532 10055237 CV197321 NM_000238.4(KCNH2):c.602C>T (p.Thr201Met) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10055238 CV197320 NM_000238.4(KCNH2):c.670G>A (p.Gly224Arg) variant DOID:0110645 long QT syndrome 2 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 PMID:25741868|PMID:26467025|PMID:28492532 10055238 CV197320 NM_000238.4(KCNH2):c.670G>A (p.Gly224Arg) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:26467025|PMID:28492532 10055238 CV197320 NM_000238.4(KCNH2):c.670G>A (p.Gly224Arg) variant DOID:9005764 Short QT Syndrome 1 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Short QT syndrome type 1 PMID:25741868|PMID:26467025|PMID:28492532 10055239 CV197318 NM_000238.4(KCNH2):c.719C>T (p.Pro240Leu) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10055241 CV197312 NM_000238.4(KCNH2):c.812G>A (p.Arg271His) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10055242 CV197308 NM_000238.4(KCNH2):c.868G>C (p.Ala290Pro) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10055244 CV197304 NM_000238.4(KCNH2):c.959C>G (p.Ser320Trp) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23631430|PMID:25741868|PMID:28492532|PMID:32893267 10055244 CV197304 NM_000238.4(KCNH2):c.959C>G (p.Ser320Trp) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:23631430|PMID:25741868|PMID:28492532|PMID:32893267 10055245 CV197303 NM_000238.4(KCNH2):c.983G>A (p.Arg328His) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10055245 CV197303 NM_000238.4(KCNH2):c.983G>A (p.Arg328His) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Arrhythmia PMID:25741868|PMID:28492532 10055246 CV197301 NM_000238.4(KCNH2):c.1043T>A (p.Phe348Tyr) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10055247 CV197300 NM_000238.4(KCNH2):c.1096C>T (p.Arg366Ter) variant DOID:0110645 long QT syndrome 2 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 PMID:10973849|PMID:11468227|PMID:15840476|PMID:18808722|PMID:19038855|PMID:19862833|PMID:23158531|PMID:24606995|PMID:25741868|PMID:28492532|PMID:29020304|PMID:36102233 10055247 CV197300 NM_000238.4(KCNH2):c.1096C>T (p.Arg366Ter) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:11468227|PMID:15840476|PMID:18808722|PMID:19038855|PMID:19862833|PMID:23158531|PMID:24606995|PMID:25741868|PMID:28492532|PMID:29020304|PMID:36102233 10055248 CV197299 NM_000238.4(KCNH2):c.1128G>A (p.Gln376=) variant DOID:0110645 long QT syndrome 2 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 PMID:10753933|PMID:10973849|PMID:11854117|PMID:15840476|PMID:17576681|PMID:19038855|PMID:19716085|PMID:19841300|PMID:20301308|PMID:21777565|PMID:23631430|PMID:25294783|PMID:25741868|PMID:25929701|PMID:26066609|PMID:28492532|PMID:28794082|PMID:32893267|PMID:34135346|PMID:34319147|PMID:36102233|PMID:36197721|PMID:9536098 10055248 CV197299 NM_000238.4(KCNH2):c.1128G>A (p.Gln376=) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10753933|PMID:10973849|PMID:11854117|PMID:15840476|PMID:17576681|PMID:19038855|PMID:19716085|PMID:19841300|PMID:20301308|PMID:21777565|PMID:23631430|PMID:25294783|PMID:25741868|PMID:25929701|PMID:26066609|PMID:28492532|PMID:28794082|PMID:32893267|PMID:34135346|PMID:34319147|PMID:36102233|PMID:36197721|PMID:9536098 10055248 CV197299 NM_000238.4(KCNH2):c.1128G>A (p.Gln376=) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:10753933|PMID:10973849|PMID:11854117|PMID:15840476|PMID:17576681|PMID:19038855|PMID:19716085|PMID:19841300|PMID:20301308|PMID:21777565|PMID:23631430|PMID:25294783|PMID:25741868|PMID:25929701|PMID:26066609|PMID:28492532|PMID:28794082|PMID:32893267|PMID:34135346|PMID:34319147|PMID:36102233|PMID:36197721|PMID:9536098 10055249 CV197297 NM_000238.4(KCNH2):c.1129-2A>G variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16199547|PMID:19862833|PMID:26669661|PMID:28492532 10055250 CV197291 NM_000238.4(KCNH2):c.1193G>A (p.Trp398Ter) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:19716085|PMID:19862833|PMID:25741868|PMID:28492532 10055253 CV197287 NM_000238.4(KCNH2):c.1282T>C (p.Ser428Pro) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23631430|PMID:25741868 10055254 CV197283 NM_000238.4(KCNH2):c.1330G>T (p.Glu444Ter) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:19862833|PMID:23631430|PMID:28492532 10055255 CV197281 NM_000238.4(KCNH2):c.1415G>C (p.Arg472Pro) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10055255 CV197281 NM_000238.4(KCNH2):c.1415G>C (p.Arg472Pro) variant DOID:9005764 Short QT Syndrome 1 IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: KCNH2-related disorders PMID:25741868|PMID:28492532 10055256 CV197279 NM_000238.4(KCNH2):c.1459G>A (p.Gly487Ser) variant DOID:0110645 long QT syndrome 2 IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 PMID:10753933|PMID:20301308|PMID:21777565|PMID:22764740|PMID:25741868|PMID:25947924|PMID:26467025|PMID:26746457|PMID:28492532|PMID:28606196|PMID:28704380|PMID:29192238|PMID:30327538|PMID:31696929|PMID:35688147 10055256 CV197279 NM_000238.4(KCNH2):c.1459G>A (p.Gly487Ser) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10753933|PMID:20301308|PMID:21777565|PMID:22764740|PMID:25741868|PMID:25947924|PMID:26467025|PMID:26746457|PMID:28492532|PMID:28606196|PMID:28704380|PMID:29192238|PMID:30327538|PMID:31696929|PMID:35688147 10055256 CV197279 NM_000238.4(KCNH2):c.1459G>A (p.Gly487Ser) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:10753933|PMID:20301308|PMID:21777565|PMID:22764740|PMID:25741868|PMID:25947924|PMID:26467025|PMID:26746457|PMID:28492532|PMID:28606196|PMID:28704380|PMID:29192238|PMID:30327538|PMID:31696929|PMID:35688147 10055256 CV197279 NM_000238.4(KCNH2):c.1459G>A (p.Gly487Ser) variant DOID:9005764 Short QT Syndrome 1 IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Short QT syndrome type 1 PMID:10753933|PMID:20301308|PMID:21777565|PMID:22764740|PMID:25741868|PMID:25947924|PMID:26467025|PMID:26746457|PMID:28492532|PMID:28606196|PMID:28704380|PMID:29192238|PMID:30327538|PMID:31696929|PMID:35688147 10055257 CV197278 NM_000238.4(KCNH2):c.1471G>A (p.Val491Ile) variant DOID:0110645 long QT syndrome 2 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 PMID:23631430|PMID:25741868|PMID:26066609|PMID:28492532 10055257 CV197278 NM_000238.4(KCNH2):c.1471G>A (p.Val491Ile) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23631430|PMID:25741868|PMID:26066609|PMID:28492532 10055257 CV197278 NM_000238.4(KCNH2):c.1471G>A (p.Val491Ile) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmias PMID:23631430|PMID:25741868|PMID:26066609|PMID:28492532 10055257 CV197278 NM_000238.4(KCNH2):c.1471G>A (p.Val491Ile) variant DOID:9005764 Short QT Syndrome 1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Short QT syndrome type 1 PMID:23631430|PMID:25741868|PMID:26066609|PMID:28492532 10055258 CV197277 NM_000238.4(KCNH2):c.1496T>G (p.Leu499Arg) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:18004376|PMID:19843919|PMID:25417810|PMID:2563738|PMID:28492532 10055261 CV197273 NM_000238.4(KCNH2):c.1525G>A (p.Asp509Asn) variant DOID:0110645 long QT syndrome 2 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 PMID:23631430|PMID:25741868|PMID:28492532|PMID:31737537|PMID:32893267|PMID:34546463|PMID:35911527 10055261 CV197273 NM_000238.4(KCNH2):c.1525G>A (p.Asp509Asn) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23631430|PMID:25741868|PMID:28492532|PMID:31737537|PMID:32893267|PMID:34546463|PMID:35911527 10055261 CV197273 NM_000238.4(KCNH2):c.1525G>A (p.Asp509Asn) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:23631430|PMID:25741868|PMID:28492532|PMID:31737537|PMID:32893267|PMID:34546463|PMID:35911527 10055261 CV197273 NM_000238.4(KCNH2):c.1525G>A (p.Asp509Asn) variant DOID:9005764 Short QT Syndrome 1 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Short QT syndrome type 1 PMID:23631430|PMID:25741868|PMID:28492532|PMID:31737537|PMID:32893267|PMID:34546463|PMID:35911527 10055262 CV197271 NM_000238.4(KCNH2):c.1583G>A (p.Arg528Gln) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:15181157|PMID:28492532|PMID:36861347 10055269 CV197258 NM_000238.4(KCNH2):c.1733A>C (p.His578Pro) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10565858|PMID:25741868|PMID:32893267 10055269 CV197258 NM_000238.4(KCNH2):c.1733A>C (p.His578Pro) variant DOID:9005764 Short QT Syndrome 1 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Short QT syndrome type 1 PMID:10565858|PMID:25741868|PMID:32893267 10055270 CV197249 NM_000238.4(KCNH2):c.1900A>G (p.Thr634Ala) variant DOID:0110645 long QT syndrome 2 IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 PMID:25741868 10055271 CV197248 NM_000238.4(KCNH2):c.1904A>G (p.Asn635Ser) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:19841300|PMID:22949429|PMID:28492532 10055273 CV197244 NM_000238.4(KCNH2):c.1916T>A (p.Ile639Asn) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10055274 CV197240 NM_000238.4(KCNH2):c.1945+6T>C variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:15364333|PMID:17576681|PMID:28492532|PMID:9536098 10055275 CV197236 NM_000238.4(KCNH2):c.1956T>A (p.Tyr652Ter) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:19862833|PMID:28492532 10055276 CV197234 NM_000238.4(KCNH2):c.2026C>T (p.Gln676Ter) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:19862833|PMID:26669661|PMID:28492532 10055277 CV197230 NM_000238.4(KCNH2):c.2104C>T (p.Gln702Ter) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:19862833|PMID:25741868|PMID:28492532 10055277 CV197230 NM_000238.4(KCNH2):c.2104C>T (p.Gln702Ter) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:10973849|PMID:19862833|PMID:25741868|PMID:28492532 10055277 CV197230 NM_000238.4(KCNH2):c.2104C>T (p.Gln702Ter) variant DOID:9005764 Short QT Syndrome 1 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Short QT syndrome type 1 PMID:10973849|PMID:19862833|PMID:25741868|PMID:28492532 10055278 CV197232 NM_000238.4(KCNH2):c.2081G>A (p.Arg694His) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23207121|PMID:28492532 10055279 CV197228 NM_000238.4(KCNH2):c.2144C>T (p.Ala715Val) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23174487|PMID:24033266|PMID:25741868|PMID:26958806|PMID:28492532 10055279 CV197228 NM_000238.4(KCNH2):c.2144C>T (p.Ala715Val) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmias PMID:23174487|PMID:24033266|PMID:25741868|PMID:26958806|PMID:28492532 10055280 CV197227 NM_000238.4(KCNH2):c.2145G>A (p.Ala715=) variant DOID:0110645 long QT syndrome 2 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 PMID:15840476|PMID:17576681|PMID:19716085|PMID:19841300|PMID:23124029|PMID:23382499|PMID:23995044|PMID:25741868|PMID:28492532|PMID:32893267|PMID:36138163|PMID:36197721|PMID:9536098 10055280 CV197227 NM_000238.4(KCNH2):c.2145G>A (p.Ala715=) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:15840476|PMID:17576681|PMID:19716085|PMID:19841300|PMID:23124029|PMID:23382499|PMID:23995044|PMID:25741868|PMID:28492532|PMID:32893267|PMID:36138163|PMID:36197721|PMID:9536098 10055280 CV197227 NM_000238.4(KCNH2):c.2145G>A (p.Ala715=) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:15840476|PMID:17576681|PMID:19716085|PMID:19841300|PMID:23124029|PMID:23382499|PMID:23995044|PMID:25741868|PMID:28492532|PMID:32893267|PMID:36138163|PMID:36197721|PMID:9536098 10055281 CV197225 NM_000238.4(KCNH2):c.2192A>C (p.His731Pro) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26669661|PMID:28492532 10055284 CV197220 NM_000238.4(KCNH2):c.2360T>A (p.Ile787Asn) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10055285 CV197219 NM_000238.4(KCNH2):c.2366T>C (p.Ile789Thr) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:21440677|PMID:23174487|PMID:26958806|PMID:28492532 10055286 CV197218 NM_000238.4(KCNH2):c.2380G>A (p.Val794Ile) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532|PMID:31696929 10055286 CV197218 NM_000238.4(KCNH2):c.2380G>A (p.Val794Ile) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868|PMID:28492532|PMID:31696929 10055287 CV197217 NM_000238.4(KCNH2):c.2386G>A (p.Val796Met) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10055288 CV197216 NM_000238.4(KCNH2):c.2386G>C (p.Val796Leu) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10055291 CV197212 NM_000238.4(KCNH2):c.2398+1G>C variant DOID:0110645 long QT syndrome 2 IAGP D RGD:8554872 20180306 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 PMID:7889573 10055292 CV197211 NM_000238.4(KCNH2):c.2398+5G>T variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:15840476|PMID:17576681|PMID:19716085|PMID:19841300|PMID:22677073|PMID:24103226|PMID:28492532|PMID:36197721|PMID:9536098 10055298 CV197197 NM_000238.4(KCNH2):c.2504G>A (p.Arg835Gln) variant DOID:0110645 long QT syndrome 2 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 PMID:25140878|PMID:25741868|PMID:28492532|PMID:29247119|PMID:30847666 10055298 CV197197 NM_000238.4(KCNH2):c.2504G>A (p.Arg835Gln) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25140878|PMID:25741868|PMID:28492532|PMID:29247119|PMID:30847666 10055298 CV197197 NM_000238.4(KCNH2):c.2504G>A (p.Arg835Gln) variant DOID:9005764 Short QT Syndrome 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short QT syndrome type 1 PMID:25140878|PMID:25741868|PMID:28492532|PMID:29247119|PMID:30847666 10055301 CV197194 NM_000238.4(KCNH2):c.2606C>T (p.Pro869Leu) variant DOID:0110218 Brugada syndrome 1 IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Brugada syndrome 1 PMID:25741868|PMID:28492532|PMID:29255176|PMID:31696929 10055301 CV197194 NM_000238.4(KCNH2):c.2606C>T (p.Pro869Leu) variant DOID:0110645 long QT syndrome 2 IAGP D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 PMID:25741868|PMID:28492532|PMID:29255176|PMID:31696929 10055301 CV197194 NM_000238.4(KCNH2):c.2606C>T (p.Pro869Leu) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532|PMID:29255176|PMID:31696929 10055301 CV197194 NM_000238.4(KCNH2):c.2606C>T (p.Pro869Leu) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868|PMID:28492532|PMID:29255176|PMID:31696929 10055301 CV197194 NM_000238.4(KCNH2):c.2606C>T (p.Pro869Leu) variant DOID:9005764 Short QT Syndrome 1 IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Short QT syndrome type 1 PMID:25741868|PMID:28492532|PMID:29255176|PMID:31696929 10055302 CV197192 NM_000238.4(KCNH2):c.2665T>G (p.Leu889Val) variant DOID:0110645 long QT syndrome 2 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 PMID:25741868|PMID:28492532 10055302 CV197192 NM_000238.4(KCNH2):c.2665T>G (p.Leu889Val) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10055302 CV197192 NM_000238.4(KCNH2):c.2665T>G (p.Leu889Val) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868|PMID:28492532 10055302 CV197192 NM_000238.4(KCNH2):c.2665T>G (p.Leu889Val) variant DOID:9005764 Short QT Syndrome 1 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Short QT syndrome type 1 PMID:25741868|PMID:28492532 10055303 CV197190 NM_000238.4(KCNH2):c.2690A>T (p.Lys897Met) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10055303 CV197190 NM_000238.4(KCNH2):c.2690A>T (p.Lys897Met) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868|PMID:28492532 10055305 CV197187 NM_000238.4(KCNH2):c.2719G>A (p.Ala907Thr) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10055306 CV197181 NM_000238.4(KCNH2):c.2758C>G (p.Arg920Gly) variant DOID:0110645 long QT syndrome 2 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 PMID:25741868|PMID:28492532|PMID:30847666 10055306 CV197181 NM_000238.4(KCNH2):c.2758C>G (p.Arg920Gly) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532|PMID:30847666 10055306 CV197181 NM_000238.4(KCNH2):c.2758C>G (p.Arg920Gly) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868|PMID:28492532|PMID:30847666 10055306 CV197181 NM_000238.4(KCNH2):c.2758C>G (p.Arg920Gly) variant DOID:9005764 Short QT Syndrome 1 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Short QT syndrome type 1 PMID:25741868|PMID:28492532|PMID:30847666 10055307 CV197178 NM_000238.4(KCNH2):c.2770G>A (p.Gly924Arg) variant DOID:0110645 long QT syndrome 2 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 PMID:19716085|PMID:23338923|PMID:25741868|PMID:26746457|PMID:28492532 10055307 CV197178 NM_000238.4(KCNH2):c.2770G>A (p.Gly924Arg) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:19716085|PMID:23338923|PMID:25741868|PMID:26746457|PMID:28492532 10055307 CV197178 NM_000238.4(KCNH2):c.2770G>A (p.Gly924Arg) variant DOID:9005764 Short QT Syndrome 1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Short QT syndrome type 1 PMID:19716085|PMID:23338923|PMID:25741868|PMID:26746457|PMID:28492532 10055308 CV197177 NM_000238.4(KCNH2):c.2774G>C (p.Gly925Ala) variant DOID:0110645 long QT syndrome 2 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 PMID:25741868|PMID:28492532|PMID:35352813 10055308 CV197177 NM_000238.4(KCNH2):c.2774G>C (p.Gly925Ala) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532|PMID:35352813 10055308 CV197177 NM_000238.4(KCNH2):c.2774G>C (p.Gly925Ala) variant DOID:9005764 Short QT Syndrome 1 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Short QT syndrome type 1 PMID:25741868|PMID:28492532|PMID:35352813 10055309 CV197176 NM_000238.4(KCNH2):c.2774G>T (p.Gly925Val) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:15840476|PMID:25741868|PMID:28492532|PMID:32893267 10055309 CV197176 NM_000238.4(KCNH2):c.2774G>T (p.Gly925Val) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:15840476|PMID:25741868|PMID:28492532|PMID:32893267 10055309 CV197176 NM_000238.4(KCNH2):c.2774G>T (p.Gly925Val) variant DOID:9007820 Sudden Death IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Sudden unexplained death PMID:15840476|PMID:25741868|PMID:28492532|PMID:32893267 10055310 CV197173 NM_000238.4(KCNH2):c.2780G>A (p.Trp927Ter) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:19716085|PMID:19862833|PMID:23158531|PMID:28492532 10055311 CV197172 NM_000238.4(KCNH2):c.2780G>T (p.Trp927Leu) variant DOID:0110645 long QT syndrome 2 IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 PMID:25741868|PMID:28492532 10055311 CV197172 NM_000238.4(KCNH2):c.2780G>T (p.Trp927Leu) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10055311 CV197172 NM_000238.4(KCNH2):c.2780G>T (p.Trp927Leu) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Arrhythmia PMID:25741868|PMID:28492532 10055311 CV197172 NM_000238.4(KCNH2):c.2780G>T (p.Trp927Leu) variant DOID:9005764 Short QT Syndrome 1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Short QT syndrome type 1 PMID:25741868|PMID:28492532 10055312 CV197170 NM_000238.4(KCNH2):c.2788A>C (p.Ser930Arg) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10055314 CV197156 NM_000238.4(KCNH2):c.3002G>A (p.Trp1001Ter) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:17576861|PMID:19716085|PMID:19862833|PMID:20850565|PMID:25741868|PMID:26669661|PMID:26846766|PMID:28492532 10055314 CV197156 NM_000238.4(KCNH2):c.3002G>A (p.Trp1001Ter) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:10973849|PMID:17576861|PMID:19716085|PMID:19862833|PMID:20850565|PMID:25741868|PMID:26669661|PMID:26846766|PMID:28492532 10055315 CV197155 NM_000238.4(KCNH2):c.3007G>T (p.Asp1003Tyr) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868 10055316 CV197153 NM_000238.4(KCNH2):c.3040C>T (p.Arg1014Ter) variant DOID:0110644 long QT syndrome 1 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:10753933|PMID:10973849|PMID:14642687|PMID:15572053|PMID:17576861|PMID:19716085|PMID:19862833|PMID:20301308|PMID:21777565|PMID:23631430|PMID:25741868|PMID:28492532|PMID:30847666|PMID:32383558 10055316 CV197153 NM_000238.4(KCNH2):c.3040C>T (p.Arg1014Ter) variant DOID:0110645 long QT syndrome 2 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 PMID:10753933|PMID:10973849|PMID:14642687|PMID:15572053|PMID:17576861|PMID:19716085|PMID:19862833|PMID:20301308|PMID:21777565|PMID:23631430|PMID:25741868|PMID:28492532|PMID:30847666|PMID:32383558 10055316 CV197153 NM_000238.4(KCNH2):c.3040C>T (p.Arg1014Ter) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10753933|PMID:10973849|PMID:14642687|PMID:15572053|PMID:17576861|PMID:19716085|PMID:19862833|PMID:20301308|PMID:21777565|PMID:23631430|PMID:25741868|PMID:28492532|PMID:30847666|PMID:32383558 10055316 CV197153 NM_000238.4(KCNH2):c.3040C>T (p.Arg1014Ter) variant DOID:9004730 Romano-Ward Syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:10753933|PMID:10973849|PMID:14642687|PMID:15572053|PMID:17576861|PMID:19716085|PMID:19862833|PMID:20301308|PMID:21777565|PMID:23631430|PMID:25741868|PMID:28492532|PMID:30847666|PMID:32383558 10055317 CV197152 NM_000238.4(KCNH2):c.3052C>G (p.Pro1018Ala) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532|PMID:28798025|PMID:29517769|PMID:30276209|PMID:30847666 10055317 CV197152 NM_000238.4(KCNH2):c.3052C>G (p.Pro1018Ala) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868|PMID:28492532|PMID:28798025|PMID:29517769|PMID:30276209|PMID:30847666 10055318 CV197149 NM_000238.4(KCNH2):c.3094C>T (p.Arg1032Trp) variant DOID:0110645 long QT syndrome 2 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 PMID:10973849|PMID:16414944|PMID:19716085|PMID:19926013|PMID:20541041|PMID:22581653|PMID:25741868|PMID:28492532|PMID:28704380|PMID:29925740|PMID:30530868|PMID:31696929|PMID:32508047|PMID:33764691 10055318 CV197149 NM_000238.4(KCNH2):c.3094C>T (p.Arg1032Trp) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16414944|PMID:19716085|PMID:19926013|PMID:20541041|PMID:22581653|PMID:25741868|PMID:28492532|PMID:28704380|PMID:29925740|PMID:30530868|PMID:31696929|PMID:32508047|PMID:33764691 10055318 CV197149 NM_000238.4(KCNH2):c.3094C>T (p.Arg1032Trp) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:10973849|PMID:16414944|PMID:19716085|PMID:19926013|PMID:20541041|PMID:22581653|PMID:25741868|PMID:28492532|PMID:28704380|PMID:29925740|PMID:30530868|PMID:31696929|PMID:32508047|PMID:33764691 10055318 CV197149 NM_000238.4(KCNH2):c.3094C>T (p.Arg1032Trp) variant DOID:9005764 Short QT Syndrome 1 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Short QT syndrome type 1 PMID:10973849|PMID:16414944|PMID:19716085|PMID:19926013|PMID:20541041|PMID:22581653|PMID:25741868|PMID:28492532|PMID:28704380|PMID:29925740|PMID:30530868|PMID:31696929|PMID:32508047|PMID:33764691 10055319 CV197141 NM_000238.4(KCNH2):c.3119G>A (p.Ser1040Asn) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10055320 CV197137 NM_000238.4(KCNH2):c.3247A>G (p.Thr1083Ala) variant DOID:0110645 long QT syndrome 2 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 PMID:25741868|PMID:28492532 10055320 CV197137 NM_000238.4(KCNH2):c.3247A>G (p.Thr1083Ala) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10055320 CV197137 NM_000238.4(KCNH2):c.3247A>G (p.Thr1083Ala) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Arrhythmia PMID:25741868|PMID:28492532 10055320 CV197137 NM_000238.4(KCNH2):c.3247A>G (p.Thr1083Ala) variant DOID:9005764 Short QT Syndrome 1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Short QT syndrome type 1 PMID:25741868|PMID:28492532 10055321 CV197135 NM_000238.4(KCNH2):c.3305C>T (p.Thr1102Ile) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10055321 CV197135 NM_000238.4(KCNH2):c.3305C>T (p.Thr1102Ile) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Arrhythmia PMID:25741868|PMID:28492532 10055322 CV197129 NM_000238.4(KCNH2):c.3365C>T (p.Pro1122Leu) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10055322 CV197129 NM_000238.4(KCNH2):c.3365C>T (p.Pro1122Leu) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Arrhythmia PMID:25741868|PMID:28492532 10055323 CV197369 NM_000238.4(KCNH2):c.77-1G>A variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16199547|PMID:19862833|PMID:28492532 10055324 CV197368 NM_000238.4(KCNH2):c.80G>A (p.Arg27His) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532|PMID:32893267 10055326 CV197363 NM_000238.4(KCNH2):c.125T>C (p.Ile42Thr) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:17905336|PMID:25417810|PMID:28492532|PMID:31557540|PMID:32475984 10055328 CV197361 NM_000238.4(KCNH2):c.136G>A (p.Asp46Asn) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:17905336|PMID:28492532|PMID:30244407 10055329 CV197360 NM_000238.4(KCNH2):c.139G>T (p.Gly47Cys) variant DOID:0110645 long QT syndrome 2 IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 PMID:25741868 10055331 CV197356 NM_000238.4(KCNH2):c.167G>T (p.Arg56Leu) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:11854117|PMID:28492532|PMID:35688148 10055332 CV197354 NM_000238.4(KCNH2):c.188C>A (p.Pro63His) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23631430|PMID:25741868|PMID:28492532 10055333 CV197353 NM_000238.4(KCNH2):c.214C>T (p.Pro72Ser) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:19716085|PMID:21440677|PMID:23158531|PMID:25417810|PMID:25741868|PMID:28492532|PMID:30847666|PMID:32475984 10055336 CV197348 NM_000238.4(KCNH2):c.274C>T (p.Arg92Cys) variant DOID:0110645 long QT syndrome 2 IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 PMID:25741868|PMID:28492532 10055336 CV197348 NM_000238.4(KCNH2):c.274C>T (p.Arg92Cys) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10055336 CV197348 NM_000238.4(KCNH2):c.274C>T (p.Arg92Cys) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Arrhythmia PMID:25741868|PMID:28492532 10055337 CV197347 NM_000238.4(KCNH2):c.275G>T (p.Arg92Leu) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868 10055338 CV197346 NM_000238.4(KCNH2):c.284A>C (p.Glu95Ala) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23098067|PMID:28492532 10055342 CV197373 NM_000238.4(KCNH2):c.31C>T (p.Gln11Ter) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:19862833|PMID:28492532 10055344 CV197374 NM_000238.4(KCNH2):c.26C>T (p.Ala9Val) variant DOID:0110645 long QT syndrome 2 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 PMID:25741868|PMID:26746457|PMID:28492532|PMID:32893267 10055344 CV197374 NM_000238.4(KCNH2):c.26C>T (p.Ala9Val) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:26746457|PMID:28492532|PMID:32893267 10055344 CV197374 NM_000238.4(KCNH2):c.26C>T (p.Ala9Val) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868|PMID:26746457|PMID:28492532|PMID:32893267 10055344 CV197374 NM_000238.4(KCNH2):c.26C>T (p.Ala9Val) variant DOID:9005764 Short QT Syndrome 1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Short QT syndrome type 1 PMID:25741868|PMID:26746457|PMID:28492532|PMID:32893267 10055347 CV197332 NM_000238.4(KCNH2):c.453del (p.Thr152fs) variant DOID:0110645 long QT syndrome 2 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 PMID:10483966|PMID:10862094|PMID:10973849|PMID:15176425|PMID:19862833|PMID:23098067|PMID:24015048|PMID:24606995|PMID:26063740|PMID:28492532|PMID:29622001 10055347 CV197332 NM_000238.4(KCNH2):c.453del (p.Thr152fs) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10483966|PMID:10862094|PMID:10973849|PMID:15176425|PMID:19862833|PMID:23098067|PMID:24015048|PMID:24606995|PMID:26063740|PMID:28492532|PMID:29622001 10055349 CV197323 NM_000238.4(KCNH2):c.565_568del (p.Gly189fs) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:19862833|PMID:28492532 10055351 CV197311 NM_000238.4(KCNH2):c.826del (p.Cys276fs) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:19862833|PMID:22677073|PMID:23631430|PMID:28492532 10055352 CV197322 NM_000238.4(KCNH2):c.572del (p.Pro191fs) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:19862833|PMID:26496715|PMID:28492532 10055354 CV197315 NM_000238.4(KCNH2):c.735_754dup (p.Arg252fs) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:19862833|PMID:28492532 10055354 CV197315 NM_000238.4(KCNH2):c.735_754dup (p.Arg252fs) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:19862833|PMID:28492532 10055356 CV197309 NM_000238.4(KCNH2):c.850_868del (p.Ser284fs) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:19862833|PMID:28492532 10055357 CV197310 NM_000238.4(KCNH2):c.853_859del (p.Ala285fs) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia 10055358 CV197306 NM_000238.4(KCNH2):c.885del (p.Leu296fs) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:19862833|PMID:28492532 10055360 CV197302 NM_000238.4(KCNH2):c.1014del (p.Asn339fs) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:19862833|PMID:28492532 10055363 CV197290 NM_000238.4(KCNH2):c.1201_1204dup (p.His402fs) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia 10055367 CV197274 NM_000238.3(KCNH2):c.1498_1524del27 (p.Ile500_Phe508del) variant DOID:0110645 long QT syndrome 2 IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 PMID:28492532|PMID:7889573 10055367 CV197274 NM_000238.3(KCNH2):c.1498_1524del27 (p.Ile500_Phe508del) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532|PMID:7889573 10055369 CV197260 NM_000238.4(KCNH2):c.1701del (p.Trp568fs) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16414944|PMID:19862833|PMID:28492532 10055375 CV197200 NM_000238.4(KCNH2):c.2456del (p.Asn819fs) variant DOID:0110645 long QT syndrome 2 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 PMID:25741868 10055378 CV197185 NM_000238.4(KCNH2):c.2724_2728dup (p.Pro910fs) variant DOID:0110644 long QT syndrome 1 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:10973849|PMID:19862833|PMID:25741868|PMID:28492532|PMID:34319147 10055378 CV197185 NM_000238.4(KCNH2):c.2724_2728dup (p.Pro910fs) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:19862833|PMID:25741868|PMID:28492532|PMID:34319147 10055378 CV197185 NM_000238.4(KCNH2):c.2724_2728dup (p.Pro910fs) variant DOID:9004730 Romano-Ward Syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:10973849|PMID:19862833|PMID:25741868|PMID:28492532|PMID:34319147 10055384 CV197175 NM_000238.4(KCNH2):c.2775dup (p.Pro926fs) variant DOID:0110645 long QT syndrome 2 IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 PMID:10973849|PMID:16922724|PMID:19862833|PMID:20181576|PMID:21419236|PMID:25741868|PMID:26669661|PMID:27000522|PMID:28492532|PMID:30369311|PMID:32383558 10055384 CV197175 NM_000238.4(KCNH2):c.2775dup (p.Pro926fs) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16922724|PMID:19862833|PMID:20181576|PMID:21419236|PMID:25741868|PMID:26669661|PMID:27000522|PMID:28492532|PMID:30369311|PMID:32383558 10055384 CV197175 NM_000238.4(KCNH2):c.2775dup (p.Pro926fs) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:10973849|PMID:16922724|PMID:19862833|PMID:20181576|PMID:21419236|PMID:25741868|PMID:26669661|PMID:27000522|PMID:28492532|PMID:30369311|PMID:32383558 10055384 CV197175 NM_000238.4(KCNH2):c.2775dup (p.Pro926fs) variant DOID:9001790 Long QT Syndrome 1/2 IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1/2, digenic PMID:10973849|PMID:16922724|PMID:19862833|PMID:20181576|PMID:21419236|PMID:25741868|PMID:26669661|PMID:27000522|PMID:28492532|PMID:30369311|PMID:32383558 10055385 CV197174 NM_000238.4(KCNH2):c.2777del (p.Pro926fs) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:19862833|PMID:28492532 10055385 CV197174 NM_000238.4(KCNH2):c.2777del (p.Pro926fs) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:10973849|PMID:19862833|PMID:28492532 10055386 CV197169 NM_000238.4(KCNH2):c.2783_2789del (p.Gly928fs) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia 10055387 CV197171 NM_000238.4(KCNH2):c.2785dup (p.Glu929fs) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:15840476|PMID:19862833|PMID:25741868|PMID:28492532|PMID:29555771 10055387 CV197171 NM_000238.4(KCNH2):c.2785dup (p.Glu929fs) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:15840476|PMID:19862833|PMID:25741868|PMID:28492532|PMID:29555771 10055388 CV197163 NM_000238.4(KCNH2):c.2906del (p.Gly969fs) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:19862833|PMID:28492532 10055391 CV197165 NM_000238.4(KCNH2):c.2892dup (p.Gly965fs) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10086971|PMID:10973849|PMID:11222472|PMID:19716085|PMID:23098067|PMID:28492532|PMID:29497013 10055393 CV197158 NM_000238.4(KCNH2):c.2966-2_2967dup variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:27920829|PMID:28492532 10055393 CV197158 NM_000238.4(KCNH2):c.2966-2_2967dup variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:27920829|PMID:28492532 10055394 CV197159 NM_000238.4(KCNH2):c.2959_2960del (p.Leu987fs) variant DOID:0110645 long QT syndrome 2 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 PMID:10753933|PMID:10973849|PMID:19716085|PMID:19862833|PMID:20301308|PMID:21777565|PMID:23098067|PMID:25741868|PMID:26669661|PMID:26715165|PMID:28492532|PMID:28861002|PMID:32893267 10055394 CV197159 NM_000238.4(KCNH2):c.2959_2960del (p.Leu987fs) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10753933|PMID:10973849|PMID:19716085|PMID:19862833|PMID:20301308|PMID:21777565|PMID:23098067|PMID:25741868|PMID:26669661|PMID:26715165|PMID:28492532|PMID:28861002|PMID:32893267 10055394 CV197159 NM_000238.4(KCNH2):c.2959_2960del (p.Leu987fs) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:10753933|PMID:10973849|PMID:19716085|PMID:19862833|PMID:20301308|PMID:21777565|PMID:23098067|PMID:25741868|PMID:26669661|PMID:26715165|PMID:28492532|PMID:28861002|PMID:32893267 10055394 CV197159 NM_000238.4(KCNH2):c.2959_2960del (p.Leu987fs) variant DOID:9005764 Short QT Syndrome 1 IAGP D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Short QT syndrome type 1 PMID:10753933|PMID:10973849|PMID:19716085|PMID:19862833|PMID:20301308|PMID:21777565|PMID:23098067|PMID:25741868|PMID:26669661|PMID:26715165|PMID:28492532|PMID:28861002|PMID:32893267 10055395 CV197151 NM_000238.4(KCNH2):c.3079dup (p.Leu1027fs) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia 10055396 CV197143 NM_000238.4(KCNH2):c.3099_3109del (p.Pro1034fs) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:15572050|PMID:21483829|PMID:27920829|PMID:28492532 10055397 CV197148 NM_000238.4(KCNH2):c.3096_3099dup (p.Pro1034fs) variant DOID:0110645 long QT syndrome 2 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 PMID:19716085|PMID:19841300|PMID:19862833|PMID:21483829|PMID:25741868|PMID:28492532 10055397 CV197148 NM_000238.4(KCNH2):c.3096_3099dup (p.Pro1034fs) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:19716085|PMID:19841300|PMID:19862833|PMID:21483829|PMID:25741868|PMID:28492532 10055397 CV197148 NM_000238.4(KCNH2):c.3096_3099dup (p.Pro1034fs) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:19716085|PMID:19841300|PMID:19862833|PMID:21483829|PMID:25741868|PMID:28492532 10055398 CV197147 NM_000238.4(KCNH2):c.3103del (p.Arg1035fs) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:15840476|PMID:19862833|PMID:21063070|PMID:28492532 10055400 CV197142 NM_000238.4(KCNH2):c.3105_3112dup (p.Val1038fs) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:19862833|PMID:28492532 10055400 CV197142 NM_000238.4(KCNH2):c.3105_3112dup (p.Val1038fs) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:10973849|PMID:19862833|PMID:28492532 10055402 CV197139 NM_000238.4(KCNH2):c.3136del (p.Gln1046fs) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia 10055403 CV197136 NM_000238.4(KCNH2):c.3251dup (p.Pro1086fs) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:27920829|PMID:28492532 10055405 CV197367 NM_000238.4(KCNH2):c.81dup (p.Lys28Ter) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:19862833|PMID:28492532 10055406 CV197350 NM_000238.4(KCNH2):c.244_252dup (p.Gln84_Ala85insIleAlaGln) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:11468227|PMID:23098067|PMID:28492532|PMID:36861347 10055406 CV197350 NM_000238.4(KCNH2):c.244_252dup (p.Gln84_Ala85insIleAlaGln) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:11468227|PMID:23098067|PMID:28492532|PMID:36861347 10055408 CV197296 NM_000238.4(KCNH2):c.1129-1G>A variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16199547|PMID:19862833|PMID:26669661|PMID:28492532 10055410 CV197270 NM_000238.4(KCNH2):c.1600C>A (p.Arg534Ser) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10690305|PMID:16432067|PMID:28492532|PMID:9600240 10055411 CV197255 NM_000238.4(KCNH2):c.1802G>A (p.Gly601Asp) variant DOID:9005764 Short QT Syndrome 1 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Short QT syndrome type 1 PMID:25741868 10055412 CV197265 NM_000238.4(KCNH2):c.1684C>T (p.His562Tyr) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:12407082|PMID:15242738|PMID:16432067|PMID:18004376|PMID:22949429|PMID:25417810|PMID:25819988|PMID:28492532 10055414 CV197257 NM_000238.4(KCNH2):c.1742C>A (p.Ser581Ter) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:19716085|PMID:19862833|PMID:28492532 10055415 CV197256 NM_000238.4(KCNH2):c.1754G>T (p.Trp585Leu) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:25417810|PMID:28492532 10055418 CV197251 NM_000238.4(KCNH2):c.1881C>A (p.Phe627Leu) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:11854117|PMID:18848812|PMID:24217263|PMID:24322056|PMID:25417810|PMID:28492532 10055420 CV197243 NM_000238.4(KCNH2):c.1918T>C (p.Phe640Leu) variant DOID:0110645 long QT syndrome 2 IAGP D RGD:8554872 20181009 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 PMID:25741868 10055421 CV197242 NM_000238.4(KCNH2):c.1943G>A (p.Gly648Asp) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10055422 CV197241 NM_000238.4(KCNH2):c.1945+1G>A variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16199547|PMID:19862833|PMID:28492532 10055423 CV197239 NM_000238.4(KCNH2):c.1946-2A>C variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:16199547|PMID:19862833|PMID:23631430|PMID:28492532 10055424 CV197337 NM_000238.4(KCNH2):c.373_374insGTGG (p.Phe125fs) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:19862833|PMID:28492532 10055424 CV197337 NM_000238.4(KCNH2):c.373_374insGTGG (p.Phe125fs) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:10973849|PMID:19862833|PMID:28492532 10055426 CV197226 NM_000238.4(KCNH2):c.2168G>A (p.Cys723Tyr) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10055427 CV197224 NM_000238.4(KCNH2):c.2200C>T (p.Arg734Cys) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532|PMID:34495297 10055427 CV197224 NM_000238.4(KCNH2):c.2200C>T (p.Arg734Cys) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868|PMID:28492532|PMID:34495297 10055429 CV197357 NM_000238.4(KCNH2):c.156C>A (p.Cys52Ter) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:19862833|PMID:28492532 10055430 CV197355 NM_000238.4(KCNH2):c.170C>T (p.Ala57Val) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10055433 CV197319 NM_000238.4(KCNH2):c.678del (p.Ala228fs) variant DOID:0110645 long QT syndrome 2 IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 PMID:10973849|PMID:19862833|PMID:25741868|PMID:28492532 10055433 CV197319 NM_000238.4(KCNH2):c.678del (p.Ala228fs) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:19862833|PMID:25741868|PMID:28492532 10055434 CV197294 NM_000238.4(KCNH2):c.1142del (p.Gly381fs) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia 10055435 CV197286 NM_000238.4(KCNH2):c.1285del (p.Ala429fs) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:19862833|PMID:28492532 10055436 CV197253 NM_000238.4(KCNH2):c.1815del (p.Ser606fs) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia 10055437 CV197233 NM_000238.4(KCNH2):c.2053del (p.Arg685fs) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia 10055440 CV197166 NM_000238.4(KCNH2):c.2857del (p.Leu953fs) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:19862833|PMID:28492532 10055441 CV197154 NM_000238.4(KCNH2):c.3017del (p.Gly1006fs) variant DOID:0110645 long QT syndrome 2 IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Long QT syndrome 2 PMID:10973849|PMID:12877697|PMID:15840476|PMID:19862833|PMID:25741868|PMID:28492532 10055441 CV197154 NM_000238.4(KCNH2):c.3017del (p.Gly1006fs) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:12877697|PMID:15840476|PMID:19862833|PMID:25741868|PMID:28492532 10055441 CV197154 NM_000238.4(KCNH2):c.3017del (p.Gly1006fs) variant DOID:9005764 Short QT Syndrome 1 IAGP D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Short QT syndrome type 1 PMID:10973849|PMID:12877697|PMID:15840476|PMID:19862833|PMID:25741868|PMID:28492532 10055442 CV197145 NM_000238.4(KCNH2):c.3107del (p.Gly1036fs) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:19862833|PMID:23631430|PMID:28449774|PMID:28492532 10055443 CV197146 NM_000238.4(KCNH2):c.3107dup (p.Asp1037fs) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10086971|PMID:10973849|PMID:11222472|PMID:15572050|PMID:19716085|PMID:21483829|PMID:23098067|PMID:24530480|PMID:27920829|PMID:28492532 10055444 CV197366 NM_000238.4(KCNH2):c.100del (p.Ala34fs) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:19716085|PMID:19862833|PMID:28492532 10055444 CV197366 NM_000238.4(KCNH2):c.100del (p.Ala34fs) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:10973849|PMID:19716085|PMID:19862833|PMID:28492532 10055445 CV197365 NM_000238.4(KCNH2):c.106del (p.Val36fs) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia 10055446 CV197358 NM_000238.4(KCNH2):c.154del (p.Cys52fs) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:19862833|PMID:28492532 10055446 CV197358 NM_000238.4(KCNH2):c.154del (p.Cys52fs) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:10973849|PMID:19862833|PMID:28492532 10055448 CV197473 NM_000218.3(KCNQ1):c.1110G>A (p.Ala370=) variant DOID:0110644 long QT syndrome 1 IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 PMID:10807545|PMID:18426444|PMID:20851114|PMID:21779290|PMID:23890619|PMID:24033266|PMID:25741868|PMID:28492532 10055448 CV197473 NM_000218.3(KCNQ1):c.1110G>A (p.Ala370=) variant DOID:2842 Jervell-Lange Nielsen syndrome IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Jervell and Lange-Nielsen syndrome 1 PMID:10807545|PMID:18426444|PMID:20851114|PMID:21779290|PMID:23890619|PMID:24033266|PMID:25741868|PMID:28492532 10055448 CV197473 NM_000218.3(KCNQ1):c.1110G>A (p.Ala370=) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10807545|PMID:18426444|PMID:20851114|PMID:21779290|PMID:23890619|PMID:24033266|PMID:25741868|PMID:28492532 10055448 CV197473 NM_000218.3(KCNQ1):c.1110G>A (p.Ala370=) variant DOID:5572 Beckwith-Wiedemann syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: EMG Syndrome PMID:10807545|PMID:18426444|PMID:20851114|PMID:21779290|PMID:23890619|PMID:24033266|PMID:25741868|PMID:28492532 10055448 CV197473 NM_000218.3(KCNQ1):c.1110G>A (p.Ala370=) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Arrhythmia PMID:10807545|PMID:18426444|PMID:20851114|PMID:21779290|PMID:23890619|PMID:24033266|PMID:25741868|PMID:28492532 10055448 CV197473 NM_000218.3(KCNQ1):c.1110G>A (p.Ala370=) variant DOID:9001050 Short QT Syndrome 2 IAGP D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Short QT syndrome type 2 PMID:10807545|PMID:18426444|PMID:20851114|PMID:21779290|PMID:23890619|PMID:24033266|PMID:25741868|PMID:28492532 10055448 CV197473 NM_000218.3(KCNQ1):c.1110G>A (p.Ala370=) variant DOID:9008197 Familial Atrial Fibrillation 3 IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 3 PMID:10807545|PMID:18426444|PMID:20851114|PMID:21779290|PMID:23890619|PMID:24033266|PMID:25741868|PMID:28492532 10055448 CV197473 NM_000218.3(KCNQ1):c.1110G>A (p.Ala370=) variant DOID:9009383 Jervell And Lange-Nielsen Syndrome 1 IAGP D RGD:8554872 20250916 ClinVar ClinVar Annotator: match by term: Jervell and Lange-Nielsen syndrome 1 PMID:10807545|PMID:18426444|PMID:20851114|PMID:21779290|PMID:23890619|PMID:24033266|PMID:25741868|PMID:28492532 10055449 CV197488 NM_000218.3(KCNQ1):c.1476A>G (p.Glu492=) variant DOID:0110644 long QT syndrome 1 IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 PMID:12402336|PMID:25741868|PMID:28492532 10055449 CV197488 NM_000218.3(KCNQ1):c.1476A>G (p.Glu492=) variant DOID:2842 Jervell-Lange Nielsen syndrome IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Jervell and Lange-Nielsen syndrome 1 PMID:12402336|PMID:25741868|PMID:28492532 10055449 CV197488 NM_000218.3(KCNQ1):c.1476A>G (p.Glu492=) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:12402336|PMID:25741868|PMID:28492532 10055449 CV197488 NM_000218.3(KCNQ1):c.1476A>G (p.Glu492=) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Arrhythmia PMID:12402336|PMID:25741868|PMID:28492532 10055449 CV197488 NM_000218.3(KCNQ1):c.1476A>G (p.Glu492=) variant DOID:9001050 Short QT Syndrome 2 IAGP D RGD:8554872 20220712 ClinVar ClinVar Annotator: match by term: Short QT syndrome type 2 PMID:12402336|PMID:25741868|PMID:28492532 10055449 CV197488 NM_000218.3(KCNQ1):c.1476A>G (p.Glu492=) variant DOID:9008197 Familial Atrial Fibrillation 3 IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 3 PMID:12402336|PMID:25741868|PMID:28492532 10055449 CV197488 NM_000218.3(KCNQ1):c.1476A>G (p.Glu492=) variant DOID:9009383 Jervell And Lange-Nielsen Syndrome 1 IAGP D RGD:8554872 20250916 ClinVar ClinVar Annotator: match by term: Jervell and Lange-Nielsen syndrome 1 PMID:12402336|PMID:25741868|PMID:28492532 10055450 CV197500 NM_000218.3(KCNQ1):c.1726G>A (p.Val576Ile) variant DOID:0110644 long QT syndrome 1 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 PMID:18752142|PMID:23174487|PMID:23392653|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29197658|PMID:32048431 10055450 CV197500 NM_000218.3(KCNQ1):c.1726G>A (p.Val576Ile) variant DOID:2842 Jervell-Lange Nielsen syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Surdo-cardiac syndrome PMID:18752142|PMID:23174487|PMID:23392653|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29197658|PMID:32048431 10055450 CV197500 NM_000218.3(KCNQ1):c.1726G>A (p.Val576Ile) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:18752142|PMID:23174487|PMID:23392653|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29197658|PMID:32048431 10055450 CV197500 NM_000218.3(KCNQ1):c.1726G>A (p.Val576Ile) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:18752142|PMID:23174487|PMID:23392653|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29197658|PMID:32048431 10055450 CV197500 NM_000218.3(KCNQ1):c.1726G>A (p.Val576Ile) variant DOID:9001050 Short QT Syndrome 2 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Short QT syndrome type 2 PMID:18752142|PMID:23174487|PMID:23392653|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29197658|PMID:32048431 10055450 CV197500 NM_000218.3(KCNQ1):c.1726G>A (p.Val576Ile) variant DOID:9008197 Familial Atrial Fibrillation 3 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 3 PMID:18752142|PMID:23174487|PMID:23392653|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29197658|PMID:32048431 10055450 CV197500 NM_000218.3(KCNQ1):c.1726G>A (p.Val576Ile) variant DOID:9009383 Jervell And Lange-Nielsen Syndrome 1 IAGP D RGD:8554872 20250916 ClinVar ClinVar Annotator: match by term: Jervell and Lange-Nielsen syndrome 1 PMID:18752142|PMID:23174487|PMID:23392653|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29197658|PMID:32048431 10055451 CV197429 NM_000218.3(KCNQ1):c.521G>T (p.Arg174Leu) variant DOID:0110644 long QT syndrome 1 IAGP D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 PMID:14998624|PMID:21956039|PMID:23130128|PMID:23392653|PMID:25741868|PMID:28492532|PMID:29532034|PMID:30571187|PMID:9386136 10055451 CV197429 NM_000218.3(KCNQ1):c.521G>T (p.Arg174Leu) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:14998624|PMID:21956039|PMID:23130128|PMID:23392653|PMID:25741868|PMID:28492532|PMID:29532034|PMID:30571187|PMID:9386136 10055453 CV197434 NM_000218.3(KCNQ1):c.587A>C (p.Lys196Thr) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532|PMID:29532034|PMID:30571187 10055455 CV197438 NM_000218.3(KCNQ1):c.642C>A (p.Cys214Ter) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:19862833|PMID:28492532|PMID:9323054 10055457 CV197441 NM_000218.3(KCNQ1):c.707T>C (p.Leu236Pro) variant DOID:0110644 long QT syndrome 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 PMID:25741868|PMID:28492532|PMID:29532034|PMID:30571187 10055457 CV197441 NM_000218.3(KCNQ1):c.707T>C (p.Leu236Pro) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532|PMID:29532034|PMID:30571187 10055458 CV197443 NM_000218.3(KCNQ1):c.757T>C (p.Ser253Pro) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10055460 CV197447 NM_000218.3(KCNQ1):c.827C>T (p.Ser276Phe) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868 10055461 CV197448 NM_000218.3(KCNQ1):c.914G>T (p.Trp305Leu) variant DOID:0110644 long QT syndrome 1 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 PMID:1584047|PMID:19490272|PMID:19632626|PMID:19716085|PMID:20301308|PMID:21451124|PMID:22456477|PMID:23158531|PMID:25741868|PMID:26344792|PMID:28438721|PMID:28492532|PMID:28532774|PMID:31737537|PMID:32893267|PMID:34428338|PMID:9781056 10055461 CV197448 NM_000218.3(KCNQ1):c.914G>T (p.Trp305Leu) variant DOID:2842 Jervell-Lange Nielsen syndrome IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Jervell and Lange-Nielsen syndrome 1 PMID:1584047|PMID:19490272|PMID:19632626|PMID:19716085|PMID:20301308|PMID:21451124|PMID:22456477|PMID:23158531|PMID:25741868|PMID:26344792|PMID:28438721|PMID:28492532|PMID:28532774|PMID:31737537|PMID:32893267|PMID:34428338|PMID:9781056 10055461 CV197448 NM_000218.3(KCNQ1):c.914G>T (p.Trp305Leu) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:1584047|PMID:19490272|PMID:19632626|PMID:19716085|PMID:20301308|PMID:21451124|PMID:22456477|PMID:23158531|PMID:25741868|PMID:26344792|PMID:28438721|PMID:28492532|PMID:28532774|PMID:31737537|PMID:32893267|PMID:34428338|PMID:9781056 10055461 CV197448 NM_000218.3(KCNQ1):c.914G>T (p.Trp305Leu) variant DOID:9009383 Jervell And Lange-Nielsen Syndrome 1 IAGP D RGD:8554872 20250916 ClinVar ClinVar Annotator: match by term: Jervell and Lange-Nielsen syndrome 1 PMID:1584047|PMID:19490272|PMID:19632626|PMID:19716085|PMID:20301308|PMID:21451124|PMID:22456477|PMID:23158531|PMID:25741868|PMID:26344792|PMID:28438721|PMID:28492532|PMID:28532774|PMID:31737537|PMID:32893267|PMID:34428338|PMID:9781056 10055462 CV197450 NM_000218.3(KCNQ1):c.922-3C>A variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:17576681|PMID:28492532|PMID:9536098 10055463 CV197451 NM_000218.3(KCNQ1):c.946G>T (p.Gly316Trp) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:19808498|PMID:20981542|PMID:28492532|PMID:31737537 10055465 CV197453 NM_000218.3(KCNQ1):c.961C>T (p.Gln321Ter) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:19862833|PMID:28492532|PMID:9323054 10055466 CV197454 NM_000218.3(KCNQ1):c.962A>C (p.Gln321Pro) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10055467 CV197455 NM_000218.3(KCNQ1):c.965C>G (p.Thr322Arg) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:16414944|PMID:17470695|PMID:18004376|PMID:18400097|PMID:19716085|PMID:22949429|PMID:23092362|PMID:24314077|PMID:28492532|PMID:34505893 10055469 CV197459 NM_000218.3(KCNQ1):c.1009A>T (p.Ile337Phe) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10055472 CV197466 NM_000218.3(KCNQ1):c.1033-2A>C variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:16199547|PMID:19862833|PMID:28492532|PMID:31737537|PMID:32383558|PMID:36578016|PMID:9323054 10055474 CV197468 NM_000218.3(KCNQ1):c.1033G>A (p.Gly345Arg) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10220144|PMID:14678125|PMID:24762593|PMID:26496715|PMID:28492532|PMID:8528244|PMID:9272155 10055475 CV197469 NM_000218.3(KCNQ1):c.1049G>T (p.Gly350Val) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23631430|PMID:25741868|PMID:28492532 10055477 CV197472 NM_000218.3(KCNQ1):c.1105C>G (p.Pro369Ala) variant DOID:630 genetic disease IAGP D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25441029|PMID:29097701 10055479 CV197475 NM_000218.3(KCNQ1):c.1128+5G>A variant DOID:0110644 long QT syndrome 1 IAGP D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 PMID:19716085|PMID:23788249|PMID:25525159|PMID:25741868|PMID:27707468|PMID:28492532|PMID:30311386 10055479 CV197475 NM_000218.3(KCNQ1):c.1128+5G>A variant DOID:2842 Jervell-Lange Nielsen syndrome IAGP D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Jervell and Lange-Nielsen syndrome 1 PMID:19716085|PMID:23788249|PMID:25525159|PMID:25741868|PMID:27707468|PMID:28492532|PMID:30311386 10055479 CV197475 NM_000218.3(KCNQ1):c.1128+5G>A variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:19716085|PMID:23788249|PMID:25525159|PMID:25741868|PMID:27707468|PMID:28492532|PMID:30311386 10055479 CV197475 NM_000218.3(KCNQ1):c.1128+5G>A variant DOID:5572 Beckwith-Wiedemann syndrome IAGP D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: EMG Syndrome PMID:19716085|PMID:23788249|PMID:25525159|PMID:25741868|PMID:27707468|PMID:28492532|PMID:30311386 10055479 CV197475 NM_000218.3(KCNQ1):c.1128+5G>A variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:19716085|PMID:23788249|PMID:25525159|PMID:25741868|PMID:27707468|PMID:28492532|PMID:30311386 10055479 CV197475 NM_000218.3(KCNQ1):c.1128+5G>A variant DOID:9001050 Short QT Syndrome 2 IAGP D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Short QT syndrome type 2 PMID:19716085|PMID:23788249|PMID:25525159|PMID:25741868|PMID:27707468|PMID:28492532|PMID:30311386 10055479 CV197475 NM_000218.3(KCNQ1):c.1128+5G>A variant DOID:9004538 Hearing Loss IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:19716085|PMID:23788249|PMID:25525159|PMID:25741868|PMID:27707468|PMID:28492532|PMID:30311386 10055479 CV197475 NM_000218.3(KCNQ1):c.1128+5G>A variant DOID:9008197 Familial Atrial Fibrillation 3 IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 3 PMID:19716085|PMID:23788249|PMID:25525159|PMID:25741868|PMID:27707468|PMID:28492532|PMID:30311386 10055479 CV197475 NM_000218.3(KCNQ1):c.1128+5G>A variant DOID:9009383 Jervell And Lange-Nielsen Syndrome 1 IAGP D RGD:8554872 20250916 ClinVar ClinVar Annotator: match by term: Jervell and Lange-Nielsen syndrome 1 PMID:19716085|PMID:23788249|PMID:25525159|PMID:25741868|PMID:27707468|PMID:28492532|PMID:30311386 10055480 CV197483 NM_000218.3(KCNQ1):c.1383T>A (p.Tyr461Ter) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:19862833|PMID:24070608|PMID:28492532|PMID:9323054 10055481 CV197476 NM_000218.3(KCNQ1):c.1142G>A (p.Cys381Tyr) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25639344|PMID:25741868|PMID:28492532 10055481 CV197476 NM_000218.3(KCNQ1):c.1142G>A (p.Cys381Tyr) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25639344|PMID:25741868|PMID:28492532 10055482 CV197479 NM_000218.3(KCNQ1):c.1251+2T>C variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Arrhythmia PMID:25741868 10055483 CV197481 NM_000218.3(KCNQ1):c.1336G>A (p.Asp446Asn) variant DOID:0110644 long QT syndrome 1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 PMID:19124472|PMID:25741868|PMID:25854863|PMID:28492532|PMID:30615648 10055483 CV197481 NM_000218.3(KCNQ1):c.1336G>A (p.Asp446Asn) variant DOID:2842 Jervell-Lange Nielsen syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Surdo-cardiac syndrome PMID:19124472|PMID:25741868|PMID:25854863|PMID:28492532|PMID:30615648 10055483 CV197481 NM_000218.3(KCNQ1):c.1336G>A (p.Asp446Asn) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:19124472|PMID:25741868|PMID:25854863|PMID:28492532|PMID:30615648 10055483 CV197481 NM_000218.3(KCNQ1):c.1336G>A (p.Asp446Asn) variant DOID:5572 Beckwith-Wiedemann syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: EMG Syndrome PMID:19124472|PMID:25741868|PMID:25854863|PMID:28492532|PMID:30615648 10055483 CV197481 NM_000218.3(KCNQ1):c.1336G>A (p.Asp446Asn) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:19124472|PMID:25741868|PMID:25854863|PMID:28492532|PMID:30615648 10055483 CV197481 NM_000218.3(KCNQ1):c.1336G>A (p.Asp446Asn) variant DOID:9001050 Short QT Syndrome 2 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Short QT syndrome type 2 PMID:19124472|PMID:25741868|PMID:25854863|PMID:28492532|PMID:30615648 10055483 CV197481 NM_000218.3(KCNQ1):c.1336G>A (p.Asp446Asn) variant DOID:9008197 Familial Atrial Fibrillation 3 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 3 PMID:19124472|PMID:25741868|PMID:25854863|PMID:28492532|PMID:30615648 10055483 CV197481 NM_000218.3(KCNQ1):c.1336G>A (p.Asp446Asn) variant DOID:9009383 Jervell And Lange-Nielsen Syndrome 1 IAGP D RGD:8554872 20250916 ClinVar ClinVar Annotator: match by term: Jervell and Lange-Nielsen syndrome 1 PMID:19124472|PMID:25741868|PMID:25854863|PMID:28492532|PMID:30615648 10055484 CV197484 NM_000218.3(KCNQ1):c.1394-1G>T variant DOID:0110644 long QT syndrome 1 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 PMID:16199547|PMID:17905336|PMID:19632626|PMID:19862833|PMID:20301308|PMID:23631430|PMID:25525159|PMID:25741868|PMID:26318259|PMID:28438721|PMID:28492532|PMID:30099333|PMID:33029862|PMID:34135346|PMID:38489124|PMID:9323054 10055484 CV197484 NM_000218.3(KCNQ1):c.1394-1G>T variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:16199547|PMID:17905336|PMID:19632626|PMID:19862833|PMID:20301308|PMID:23631430|PMID:25525159|PMID:25741868|PMID:26318259|PMID:28438721|PMID:28492532|PMID:30099333|PMID:33029862|PMID:34135346|PMID:38489124|PMID:9323054 10055484 CV197484 NM_000218.3(KCNQ1):c.1394-1G>T variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:16199547|PMID:17905336|PMID:19632626|PMID:19862833|PMID:20301308|PMID:23631430|PMID:25525159|PMID:25741868|PMID:26318259|PMID:28438721|PMID:28492532|PMID:30099333|PMID:33029862|PMID:34135346|PMID:38489124|PMID:9323054 10055486 CV197487 NM_000218.3(KCNQ1):c.1464C>A (p.Asp488Glu) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10055486 CV197487 NM_000218.3(KCNQ1):c.1464C>A (p.Asp488Glu) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Arrhythmia PMID:25741868|PMID:28492532 10055487 CV197490 NM_000218.3(KCNQ1):c.1522G>T (p.Glu508Ter) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome PMID:24033266 10055488 CV197496 NM_000218.3(KCNQ1):c.1685+1G>A variant DOID:0110644 long QT syndrome 1 IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 PMID:16199547|PMID:19862833|PMID:25741868|PMID:28492532|PMID:31737537|PMID:34505893|PMID:9323054 10055488 CV197496 NM_000218.3(KCNQ1):c.1685+1G>A variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:16199547|PMID:19862833|PMID:25741868|PMID:28492532|PMID:31737537|PMID:34505893|PMID:9323054 10055489 CV197491 NM_000218.3(KCNQ1):c.1545G>T (p.Lys515Asn) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10055490 CV197493 NM_000218.3(KCNQ1):c.1660G>A (p.Val554Met) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532|PMID:32893267 10055492 CV197497 NM_000218.3(KCNQ1):c.1686G>T (p.Arg562Ser) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:22456477|PMID:22727609|PMID:28492532|PMID:30170673 10055493 CV197501 NM_000218.3(KCNQ1):c.1762A>T (p.Ile588Phe) variant DOID:0110644 long QT syndrome 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 PMID:27041150|PMID:28492532 10055493 CV197501 NM_000218.3(KCNQ1):c.1762A>T (p.Ile588Phe) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:27041150|PMID:28492532 10055494 CV197503 NM_000218.3(KCNQ1):c.1772G>T (p.Arg591Leu) variant DOID:0110644 long QT syndrome 1 IAGP D RGD:8554872 20230912 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 PMID:23158531|PMID:25741868|PMID:32383558|PMID:34505893 10055495 CV197504 NM_000218.3(KCNQ1):c.1780C>T (p.Arg594Ter) variant DOID:0110644 long QT syndrome 1 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 PMID:10024302|PMID:10654932|PMID:16981927|PMID:18165683|PMID:19693805|PMID:19716085|PMID:19825999|PMID:23098067|PMID:23631430|PMID:24033266|PMID:25187895|PMID:25741868|PMID:26669661|PMID:27479201|PMID:28492532|PMID:29095814|PMID:29532034|PMID:30847666|PMID:31737537|PMID:32686758|PMID:32893267|PMID:34505893|PMID:37449562 10055495 CV197504 NM_000218.3(KCNQ1):c.1780C>T (p.Arg594Ter) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10024302|PMID:10654932|PMID:16981927|PMID:18165683|PMID:19693805|PMID:19716085|PMID:19825999|PMID:23098067|PMID:23631430|PMID:24033266|PMID:25187895|PMID:25741868|PMID:26669661|PMID:27479201|PMID:28492532|PMID:29095814|PMID:29532034|PMID:30847666|PMID:31737537|PMID:32686758|PMID:32893267|PMID:34505893|PMID:37449562 10055495 CV197504 NM_000218.3(KCNQ1):c.1780C>T (p.Arg594Ter) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:10024302|PMID:10654932|PMID:16981927|PMID:18165683|PMID:19693805|PMID:19716085|PMID:19825999|PMID:23098067|PMID:23631430|PMID:24033266|PMID:25187895|PMID:25741868|PMID:26669661|PMID:27479201|PMID:28492532|PMID:29095814|PMID:29532034|PMID:30847666|PMID:31737537|PMID:32686758|PMID:32893267|PMID:34505893|PMID:37449562 10055495 CV197504 NM_000218.3(KCNQ1):c.1780C>T (p.Arg594Ter) variant DOID:9004730 Romano-Ward Syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:10024302|PMID:10654932|PMID:16981927|PMID:18165683|PMID:19693805|PMID:19716085|PMID:19825999|PMID:23098067|PMID:23631430|PMID:24033266|PMID:25187895|PMID:25741868|PMID:26669661|PMID:27479201|PMID:28492532|PMID:29095814|PMID:29532034|PMID:30847666|PMID:31737537|PMID:32686758|PMID:32893267|PMID:34505893|PMID:37449562 10055497 CV197506 NM_000218.3(KCNQ1):c.1794G>A (p.Lys598=) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:17576681|PMID:19716085|PMID:22456477|PMID:28492532|PMID:31737537|PMID:9536098 10055498 CV197507 NM_000218.3(KCNQ1):c.1801C>T (p.Gln601Ter) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10024302|PMID:23098067|PMID:23631430|PMID:25187895|PMID:28492532 10055499 CV197508 NM_000218.3(KCNQ1):c.1811A>T (p.Gln604Leu) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10055500 CV197509 NM_000218.3(KCNQ1):c.1829C>A (p.Thr610Asn) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:31337358 10055500 CV197509 NM_000218.3(KCNQ1):c.1829C>A (p.Thr610Asn) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868|PMID:31337358 10055501 CV197510 NM_000218.3(KCNQ1):c.1986C>G (p.Tyr662Ter) variant DOID:2842 Jervell-Lange Nielsen syndrome IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Surdo-cardiac syndrome PMID:19716085|PMID:24033266|PMID:25741868|PMID:26704558|PMID:28492532|PMID:32383558|PMID:34495297|PMID:37589201 10055501 CV197510 NM_000218.3(KCNQ1):c.1986C>G (p.Tyr662Ter) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:19716085|PMID:24033266|PMID:25741868|PMID:26704558|PMID:28492532|PMID:32383558|PMID:34495297|PMID:37589201 10055501 CV197510 NM_000218.3(KCNQ1):c.1986C>G (p.Tyr662Ter) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:19716085|PMID:24033266|PMID:25741868|PMID:26704558|PMID:28492532|PMID:32383558|PMID:34495297|PMID:37589201 10055501 CV197510 NM_000218.3(KCNQ1):c.1986C>G (p.Tyr662Ter) variant DOID:9001050 Short QT Syndrome 2 IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Short QT syndrome type 2 PMID:19716085|PMID:24033266|PMID:25741868|PMID:26704558|PMID:28492532|PMID:32383558|PMID:34495297|PMID:37589201 10055501 CV197510 NM_000218.3(KCNQ1):c.1986C>G (p.Tyr662Ter) variant DOID:9009383 Jervell And Lange-Nielsen Syndrome 1 IAGP D RGD:8554872 20250916 ClinVar ClinVar Annotator: match by term: Jervell and Lange-Nielsen syndrome 1 PMID:19716085|PMID:24033266|PMID:25741868|PMID:26704558|PMID:28492532|PMID:32383558|PMID:34495297|PMID:37589201 10055502 CV197511 NM_000218.3(KCNQ1):c.1999G>A (p.Val667Met) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532|PMID:29420653 10055502 CV197511 NM_000218.3(KCNQ1):c.1999G>A (p.Val667Met) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868|PMID:28492532|PMID:29420653 10055505 CV197408 NM_000218.3(KCNQ1):c.64G>C (p.Gly22Arg) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532|PMID:34505893 10055507 CV197431 NM_000218.3(KCNQ1):c.551dup (p.Tyr184Ter) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:19862833|PMID:28492532|PMID:34505893|PMID:9323054 10055509 CV197422 NM_000218.3(KCNQ1):c.387-5T>A variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:19027783|PMID:1918417|PMID:19184172|PMID:25741868|PMID:28438721|PMID:28492532|PMID:28944242|PMID:36138163 10055509 CV197422 NM_000218.3(KCNQ1):c.387-5T>A variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:19027783|PMID:1918417|PMID:19184172|PMID:25741868|PMID:28438721|PMID:28492532|PMID:28944242|PMID:36138163 10055510 CV197423 NM_000218.3(KCNQ1):c.392T>C (p.Leu131Pro) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532|PMID:29532034|PMID:30571187 10055511 CV197427 NM_000218.3(KCNQ1):c.477+1G>A variant DOID:0110644 long QT syndrome 1 IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 PMID:10973849|PMID:12566525|PMID:15466642|PMID:16987820|PMID:19716085|PMID:22539601|PMID:22629021|PMID:24033266|PMID:24552659|PMID:25741868|PMID:28492532|PMID:29037160|PMID:9386136 10055511 CV197427 NM_000218.3(KCNQ1):c.477+1G>A variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10973849|PMID:12566525|PMID:15466642|PMID:16987820|PMID:19716085|PMID:22539601|PMID:22629021|PMID:24033266|PMID:24552659|PMID:25741868|PMID:28492532|PMID:29037160|PMID:9386136 10055511 CV197427 NM_000218.3(KCNQ1):c.477+1G>A variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:10973849|PMID:12566525|PMID:15466642|PMID:16987820|PMID:19716085|PMID:22539601|PMID:22629021|PMID:24033266|PMID:24552659|PMID:25741868|PMID:28492532|PMID:29037160|PMID:9386136 10055511 CV197427 NM_000218.3(KCNQ1):c.477+1G>A variant DOID:9004730 Romano-Ward Syndrome IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:10973849|PMID:12566525|PMID:15466642|PMID:16987820|PMID:19716085|PMID:22539601|PMID:22629021|PMID:24033266|PMID:24552659|PMID:25741868|PMID:28492532|PMID:29037160|PMID:9386136 10055512 CV197414 NM_000218.3(KCNQ1):c.242C>T (p.Pro81Leu) variant DOID:0110644 long QT syndrome 1 IAGP D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 PMID:25741868|PMID:28492532 10055512 CV197414 NM_000218.3(KCNQ1):c.242C>T (p.Pro81Leu) variant DOID:2842 Jervell-Lange Nielsen syndrome IAGP D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Surdo-cardiac syndrome PMID:25741868|PMID:28492532 10055512 CV197414 NM_000218.3(KCNQ1):c.242C>T (p.Pro81Leu) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10055512 CV197414 NM_000218.3(KCNQ1):c.242C>T (p.Pro81Leu) variant DOID:5572 Beckwith-Wiedemann syndrome IAGP D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: EMG Syndrome PMID:25741868|PMID:28492532 10055512 CV197414 NM_000218.3(KCNQ1):c.242C>T (p.Pro81Leu) variant DOID:9001050 Short QT Syndrome 2 IAGP D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Short QT syndrome type 2 PMID:25741868|PMID:28492532 10055512 CV197414 NM_000218.3(KCNQ1):c.242C>T (p.Pro81Leu) variant DOID:9008197 Familial Atrial Fibrillation 3 IAGP D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 3 PMID:25741868|PMID:28492532 10055512 CV197414 NM_000218.3(KCNQ1):c.242C>T (p.Pro81Leu) variant DOID:9009383 Jervell And Lange-Nielsen Syndrome 1 IAGP D RGD:8554872 20250916 ClinVar ClinVar Annotator: match by term: Jervell and Lange-Nielsen syndrome 1 PMID:25741868|PMID:28492532 10055513 CV197415 NM_000218.3(KCNQ1):c.251C>G (p.Pro84Arg) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10055514 CV197416 NM_000218.3(KCNQ1):c.296C>G (p.Pro99Arg) variant DOID:0110644 long QT syndrome 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 PMID:24631775|PMID:25741868|PMID:28492532|PMID:29247119 10055514 CV197416 NM_000218.3(KCNQ1):c.296C>G (p.Pro99Arg) variant DOID:2842 Jervell-Lange Nielsen syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Surdo-cardiac syndrome PMID:24631775|PMID:25741868|PMID:28492532|PMID:29247119 10055514 CV197416 NM_000218.3(KCNQ1):c.296C>G (p.Pro99Arg) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:24631775|PMID:25741868|PMID:28492532|PMID:29247119 10055514 CV197416 NM_000218.3(KCNQ1):c.296C>G (p.Pro99Arg) variant DOID:5572 Beckwith-Wiedemann syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: EMG Syndrome PMID:24631775|PMID:25741868|PMID:28492532|PMID:29247119 10055514 CV197416 NM_000218.3(KCNQ1):c.296C>G (p.Pro99Arg) variant DOID:9001050 Short QT Syndrome 2 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short QT syndrome type 2 PMID:24631775|PMID:25741868|PMID:28492532|PMID:29247119 10055514 CV197416 NM_000218.3(KCNQ1):c.296C>G (p.Pro99Arg) variant DOID:9008197 Familial Atrial Fibrillation 3 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Atrial fibrillation, familial, 3 PMID:24631775|PMID:25741868|PMID:28492532|PMID:29247119 10055514 CV197416 NM_000218.3(KCNQ1):c.296C>G (p.Pro99Arg) variant DOID:9009383 Jervell And Lange-Nielsen Syndrome 1 IAGP D RGD:8554872 20250916 ClinVar ClinVar Annotator: match by term: Jervell and Lange-Nielsen syndrome 1 PMID:24631775|PMID:25741868|PMID:28492532|PMID:29247119 10055515 CV197417 NM_000218.3(KCNQ1):c.321G>T (p.Gln107His) variant DOID:0110644 long QT syndrome 1 IAGP D RGD:8554872 20181009 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 PMID:25741868 10055516 CV197418 NM_000218.3(KCNQ1):c.343G>A (p.Glu115Lys) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10055521 CV197486 NM_000218.3(KCNQ1):c.1446del (p.Asn483fs) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:19862833|PMID:28492532|PMID:9323054 10055522 CV197462 NM_000218.3(KCNQ1):c.1029_1031dup (p.Ala344_Gly345insAla) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10055523 CV197464 NM_000218.3(KCNQ1):c.1032+5dup variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20180807 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia 10055524 CV197494 NM_000218.3(KCNQ1):c.1660del (p.Val554fs) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10024302|PMID:16981927|PMID:19825999|PMID:23098067|PMID:23631430|PMID:25187895|PMID:28492532|PMID:32893267 10055525 CV197498 NM_000218.3(KCNQ1):c.1686del variant DOID:0110644 long QT syndrome 1 IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:10024302|PMID:10654932|PMID:18165683|PMID:19693805|PMID:19825999|PMID:23098067|PMID:23631430|PMID:24033266|PMID:25187895|PMID:25741868|PMID:28492532 10055525 CV197498 NM_000218.3(KCNQ1):c.1686del variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10024302|PMID:10654932|PMID:18165683|PMID:19693805|PMID:19825999|PMID:23098067|PMID:23631430|PMID:24033266|PMID:25187895|PMID:25741868|PMID:28492532 10055525 CV197498 NM_000218.3(KCNQ1):c.1686del variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:10024302|PMID:10654932|PMID:18165683|PMID:19693805|PMID:19825999|PMID:23098067|PMID:23631430|PMID:24033266|PMID:25187895|PMID:25741868|PMID:28492532 10055525 CV197498 NM_000218.3(KCNQ1):c.1686del variant DOID:9004730 Romano-Ward Syndrome IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval PMID:10024302|PMID:10654932|PMID:18165683|PMID:19693805|PMID:19825999|PMID:23098067|PMID:23631430|PMID:24033266|PMID:25187895|PMID:25741868|PMID:28492532 10055526 CV197410 NM_000218.3(KCNQ1):c.165_187del (p.Gly57fs) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:19862833|PMID:27871843|PMID:28492532|PMID:9323054 10055526 CV197410 NM_000218.3(KCNQ1):c.165_187del (p.Gly57fs) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:19862833|PMID:27871843|PMID:28492532|PMID:9323054 10055528 CV197424 NM_000218.3(KCNQ1):c.403del (p.Val135fs) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Congenital long QT syndrome PMID:19716085|PMID:19862833|PMID:24033266|PMID:28492532|PMID:34505893|PMID:9323054 10055529 CV197425 NM_000218.3(KCNQ1):c.425del (p.Leu142fs) variant DOID:0110644 long QT syndrome 1 IAGP D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 PMID:25741868 10055532 CV197437 NM_000218.3(KCNQ1):c.605A>G (p.Asp202Gly) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532|PMID:30571187 10055534 CV197442 NM_000218.3(KCNQ1):c.707T>G (p.Leu236Arg) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:26066609|PMID:28492532|PMID:29532034|PMID:30571187 10055537 CV197463 NM_000218.3(KCNQ1):c.1031C>G (p.Ala344Gly) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:16922724|PMID:17088455|PMID:17470695|PMID:19490272|PMID:24217263|PMID:27920829|PMID:28492532|PMID:9386136 10055538 CV197471 NM_000218.3(KCNQ1):c.1081C>T (p.Gln361Ter) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:19862833|PMID:28492532|PMID:9323054 10055540 CV197478 NM_000218.3(KCNQ1):c.1201C>T (p.Arg401Trp) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:24033266|PMID:25741868|PMID:28492532 10055540 CV197478 NM_000218.3(KCNQ1):c.1201C>T (p.Arg401Trp) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Arrhythmia PMID:24033266|PMID:25741868|PMID:28492532 10055541 CV197482 NM_000218.3(KCNQ1):c.1355G>T (p.Arg452Leu) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532|PMID:34930020 10055544 CV197499 NM_000218.3(KCNQ1):c.1706A>G (p.Lys569Arg) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868 10055545 CV197502 NM_000218.3(KCNQ1):c.1763T>C (p.Ile588Thr) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:27251404|PMID:28492532 10055546 CV197426 NM_000218.3(KCNQ1):c.448G>A (p.Ala150Thr) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532|PMID:29532034|PMID:30571187|PMID:3189954|PMID:31899541 10055546 CV197426 NM_000218.3(KCNQ1):c.448G>A (p.Ala150Thr) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868|PMID:28492532|PMID:29532034|PMID:30571187|PMID:3189954|PMID:31899541 10055548 CV197421 NM_000218.3(KCNQ1):c.377A>T (p.His126Leu) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:19841300|PMID:25348405|PMID:28492532 10055549 CV197436 NM_000218.3(KCNQ1):c.603_604+9del variant DOID:0110644 long QT syndrome 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 PMID:16199547|PMID:19862833|PMID:25741868|PMID:28492532|PMID:9323054 10055549 CV197436 NM_000218.3(KCNQ1):c.603_604+9del variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:16199547|PMID:19862833|PMID:25741868|PMID:28492532|PMID:9323054 10055550 CV197458 NM_000218.3(KCNQ1):c.1004_1005del (p.Phe335fs) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:19862833|PMID:28492532|PMID:9323054 10055552 CV197419 NM_000218.3(KCNQ1):c.364dup (p.Cys122fs) variant DOID:0110644 long QT syndrome 1 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Long QT syndrome 1 PMID:15840476|PMID:19716085|PMID:19862833|PMID:24665220|PMID:25741868|PMID:28492532|PMID:30609406|PMID:9323054 10055552 CV197419 NM_000218.3(KCNQ1):c.364dup (p.Cys122fs) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:15840476|PMID:19716085|PMID:19862833|PMID:24665220|PMID:25741868|PMID:28492532|PMID:30609406|PMID:9323054 10055552 CV197419 NM_000218.3(KCNQ1):c.364dup (p.Cys122fs) variant DOID:5572 Beckwith-Wiedemann syndrome IAGP D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: KCNQ1-related condition PMID:15840476|PMID:19716085|PMID:19862833|PMID:24665220|PMID:25741868|PMID:28492532|PMID:30609406|PMID:9323054 10055553 CV198014 NM_000527.5(LDLR):c.1413A>G (p.Arg471=) variant DOID:13810 familial hypercholesterolemia IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:11642133|PMID:24033266|PMID:25741868|PMID:28492532|PMID:34906454 10055553 CV198014 NM_000527.5(LDLR):c.1413A>G (p.Arg471=) variant DOID:9005519 Hyperlipoproteinemia Type II IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia PMID:11642133|PMID:24033266|PMID:25741868|PMID:28492532|PMID:34906454 10055554 CV198016 NM_000527.5(LDLR):c.1773C>T (p.Asn591=) variant DOID:13810 familial hypercholesterolemia IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:11641914|PMID:12730724|PMID:24033266|PMID:25741868|PMID:28492532|PMID:34906454 10055554 CV198016 NM_000527.5(LDLR):c.1773C>T (p.Asn591=) variant DOID:9005519 Hyperlipoproteinemia Type II IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia PMID:11641914|PMID:12730724|PMID:24033266|PMID:25741868|PMID:28492532|PMID:34906454 10055555 CV196458 NM_170707.4(LMNA):c.357-19T>C variant DOID:0050539 Charcot-Marie-Tooth disease type 2 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:28492532 10055556 CV196471 NM_170707.4(LMNA):c.810+12C>T variant DOID:0050539 Charcot-Marie-Tooth disease type 2 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:25741868|PMID:28492532 10055556 CV196471 NM_170707.4(LMNA):c.810+12C>T variant DOID:10595 Charcot-Marie-Tooth disease IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:25741868|PMID:28492532 10055557 CV196477 NM_170707.4(LMNA):c.1157+6C>G variant DOID:0050539 Charcot-Marie-Tooth disease type 2 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 10055557 CV196477 NM_170707.4(LMNA):c.1157+6C>G variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 10055557 CV196477 NM_170707.4(LMNA):c.1157+6C>G variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 10055558 CV196486 NM_005572.4(LMNA):c.1712G>A (p.Arg571His) variant DOID:0050539 Charcot-Marie-Tooth disease type 2 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:10580070|PMID:11102973|PMID:25741868|PMID:28492532|PMID:28686329|PMID:29237675|PMID:29952368|PMID:32818388|PMID:33407844 10055558 CV196486 NM_005572.4(LMNA):c.1712G>A (p.Arg571His) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:10580070|PMID:11102973|PMID:25741868|PMID:28492532|PMID:28686329|PMID:29237675|PMID:29952368|PMID:32818388|PMID:33407844 10055558 CV196486 NM_005572.4(LMNA):c.1712G>A (p.Arg571His) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:10580070|PMID:11102973|PMID:25741868|PMID:28492532|PMID:28686329|PMID:29237675|PMID:29952368|PMID:32818388|PMID:33407844 10055558 CV196486 NM_005572.4(LMNA):c.1712G>A (p.Arg571His) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:10580070|PMID:11102973|PMID:25741868|PMID:28492532|PMID:28686329|PMID:29237675|PMID:29952368|PMID:32818388|PMID:33407844 10055558 CV196486 NM_005572.4(LMNA):c.1712G>A (p.Arg571His) variant DOID:9351 diabetes mellitus IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Monogenic diabetes PMID:10580070|PMID:11102973|PMID:25741868|PMID:28492532|PMID:28686329|PMID:29237675|PMID:29952368|PMID:32818388|PMID:33407844 10055560 CV197902 NM_002474.3(MYH11):c.1732A>G (p.Ile578Val) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and aortic dissections PMID:25741868|PMID:28492532 10055560 CV197902 NM_002474.3(MYH11):c.1732A>G (p.Ile578Val) variant DOID:9000664 Familial Thoracic Aortic Aneurysm 4 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus PMID:25741868|PMID:28492532 10055561 CV197897 NM_002474.3(MYH11):c.2520+8C>A variant DOID:9000664 Familial Thoracic Aortic Aneurysm 4 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 PMID:28492532 10055562 CV197893 NM_002474.3(MYH11):c.3031T>C (p.Leu1011=) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and aortic dissections PMID:25741868|PMID:28492532 10055562 CV197893 NM_002474.3(MYH11):c.3031T>C (p.Leu1011=) variant DOID:65 connective tissue disease IAGP D RGD:8554872 20181009 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 10055562 CV197893 NM_002474.3(MYH11):c.3031T>C (p.Leu1011=) variant DOID:9000664 Familial Thoracic Aortic Aneurysm 4 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 PMID:25741868|PMID:28492532 10055563 CV197884 NM_002474.3(MYH11):c.3604G>A (p.Ala1202Thr) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10055563 CV197884 NM_002474.3(MYH11):c.3604G>A (p.Ala1202Thr) variant DOID:9000664 Familial Thoracic Aortic Aneurysm 4 IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus PMID:25741868|PMID:28492532 10055564 CV197883 NM_002474.3(MYH11):c.3611C>T (p.Ala1204Val) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10055564 CV197883 NM_002474.3(MYH11):c.3611C>T (p.Ala1204Val) variant DOID:9000664 Familial Thoracic Aortic Aneurysm 4 IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus PMID:25741868|PMID:28492532 10055566 CV197881 NM_002474.3(MYH11):c.3651+6_3651+11del variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and aortic dissections PMID:25741868|PMID:28492532 10055566 CV197881 NM_002474.3(MYH11):c.3651+6_3651+11del variant DOID:9000664 Familial Thoracic Aortic Aneurysm 4 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus PMID:25741868|PMID:28492532 10055567 CV197877 NM_002474.3(MYH11):c.3949C>A (p.Leu1317Ile) variant DOID:0050453 lissencephaly IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Lissencephaly, Recessive PMID:25741868|PMID:28492532 10055567 CV197877 NM_002474.3(MYH11):c.3949C>A (p.Leu1317Ile) variant DOID:0112235 lissencephaly 4 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Lissencephaly 4 PMID:25741868|PMID:28492532 10055567 CV197877 NM_002474.3(MYH11):c.3949C>A (p.Leu1317Ile) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and aortic dissections PMID:25741868|PMID:28492532 10055567 CV197877 NM_002474.3(MYH11):c.3949C>A (p.Leu1317Ile) variant DOID:9000664 Familial Thoracic Aortic Aneurysm 4 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 PMID:25741868|PMID:28492532 10055568 CV197874 NM_002474.3(MYH11):c.4068G>A (p.Met1356Ile) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections 10055570 CV197871 NM_002474.3(MYH11):c.4116+11del variant DOID:0112235 lissencephaly 4 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Lissencephaly 4 PMID:25741868|PMID:28492532 10055570 CV197871 NM_002474.3(MYH11):c.4116+11del variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection PMID:25741868|PMID:28492532 10055570 CV197871 NM_002474.3(MYH11):c.4116+11del variant DOID:9000664 Familial Thoracic Aortic Aneurysm 4 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus PMID:25741868|PMID:28492532 10055572 CV197854 NM_002474.3(MYH11):c.5172-13G>A variant DOID:0050453 lissencephaly IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Lissencephaly, Recessive PMID:24033266|PMID:25741868|PMID:28492532 10055572 CV197854 NM_002474.3(MYH11):c.5172-13G>A variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:24033266|PMID:25741868|PMID:28492532 10055572 CV197854 NM_002474.3(MYH11):c.5172-13G>A variant DOID:9000664 Familial Thoracic Aortic Aneurysm 4 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus PMID:24033266|PMID:25741868|PMID:28492532 10055573 CV197852 NM_002474.3(MYH11):c.5275G>A (p.Val1759Ile) variant DOID:0050453 lissencephaly IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Lissencephaly, Recessive PMID:25741868|PMID:28492532|PMID:31664448 10055573 CV197852 NM_002474.3(MYH11):c.5275G>A (p.Val1759Ile) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532|PMID:31664448 10055573 CV197852 NM_002474.3(MYH11):c.5275G>A (p.Val1759Ile) variant DOID:9000664 Familial Thoracic Aortic Aneurysm 4 IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus PMID:25741868|PMID:28492532|PMID:31664448 10055573 CV197852 NM_002474.3(MYH11):c.5275G>A (p.Val1759Ile) variant DOID:9001104 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 PMID:25741868|PMID:28492532|PMID:31664448 10055573 CV197852 NM_002474.3(MYH11):c.5275G>A (p.Val1759Ile) variant DOID:9009175 Visceral Myopathy 2 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Visceral myopathy 2 PMID:25741868|PMID:28492532|PMID:31664448 10055574 CV197851 NM_002474.3(MYH11):c.5313C>T (p.Asn1771=) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10055574 CV197851 NM_002474.3(MYH11):c.5313C>T (p.Asn1771=) variant DOID:9000664 Familial Thoracic Aortic Aneurysm 4 IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus PMID:25741868|PMID:28492532 10055575 CV197845 NM_002474.3(MYH11):c.5528C>T (p.Ser1843Leu) variant DOID:0112235 lissencephaly 4 IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Lissencephaly 4 PMID:25741868|PMID:28492532 10055575 CV197845 NM_002474.3(MYH11):c.5528C>T (p.Ser1843Leu) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10055575 CV197845 NM_002474.3(MYH11):c.5528C>T (p.Ser1843Leu) variant DOID:9000664 Familial Thoracic Aortic Aneurysm 4 IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus PMID:25741868|PMID:28492532 10055575 CV197845 NM_002474.3(MYH11):c.5528C>T (p.Ser1843Leu) variant DOID:9001104 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 PMID:25741868|PMID:28492532 10055575 CV197845 NM_002474.3(MYH11):c.5528C>T (p.Ser1843Leu) variant DOID:9009175 Visceral Myopathy 2 IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Visceral myopathy 2 PMID:25741868|PMID:28492532 10055577 CV197836 NM_001040113.2(MYH11):c.5819C>A (p.Pro1940Gln) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28074631|PMID:28492532 10055577 CV197836 NM_001040113.2(MYH11):c.5819C>A (p.Pro1940Gln) variant DOID:9000664 Familial Thoracic Aortic Aneurysm 4 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus PMID:25741868|PMID:28074631|PMID:28492532 10055578 CV197835 NM_001040113.2(MYH11):c.5819C>G (p.Pro1940Arg) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and aortic dissections PMID:25741868|PMID:28492532 10055578 CV197835 NM_001040113.2(MYH11):c.5819C>G (p.Pro1940Arg) variant DOID:9000664 Familial Thoracic Aortic Aneurysm 4 IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 PMID:25741868|PMID:28492532 10055579 CV197833 NM_002474.3(MYH11):c.5796C>T (p.Asn1932=) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and aortic dissections PMID:25741868 10055580 CV197832 NM_002474.3(MYH11):c.5800A>T (p.Thr1934Ser) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25500235|PMID:25637381|PMID:25741868|PMID:28492532 10055580 CV197832 NM_002474.3(MYH11):c.5800A>T (p.Thr1934Ser) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25500235|PMID:25637381|PMID:25741868|PMID:28492532 10055580 CV197832 NM_002474.3(MYH11):c.5800A>T (p.Thr1934Ser) variant DOID:65 connective tissue disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Connective tissue disease PMID:25500235|PMID:25637381|PMID:25741868|PMID:28492532 10055580 CV197832 NM_002474.3(MYH11):c.5800A>T (p.Thr1934Ser) variant DOID:9000664 Familial Thoracic Aortic Aneurysm 4 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 PMID:25500235|PMID:25637381|PMID:25741868|PMID:28492532 10055580 CV197832 NM_002474.3(MYH11):c.5800A>T (p.Thr1934Ser) variant DOID:9001516 Familial Thoracic Aortic Aneurysm 6 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI PMID:25500235|PMID:25637381|PMID:25741868|PMID:28492532 10055581 CV197831 NM_002474.3(MYH11):c.5873C>T (p.Thr1958Met) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868 10055582 CV197922 NM_002474.3(MYH11):c.453G>A (p.Pro151=) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and aortic dissections PMID:25741868|PMID:28492532 10055582 CV197922 NM_002474.3(MYH11):c.453G>A (p.Pro151=) variant DOID:9000664 Familial Thoracic Aortic Aneurysm 4 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 PMID:25741868|PMID:28492532 10055584 CV197912 NM_002474.3(MYH11):c.988G>A (p.Val330Met) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10055584 CV197912 NM_002474.3(MYH11):c.988G>A (p.Val330Met) variant DOID:9000664 Familial Thoracic Aortic Aneurysm 4 IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus PMID:25741868|PMID:28492532 10055585 CV197910 NM_002474.3(MYH11):c.1034-12T>G variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10055585 CV197910 NM_002474.3(MYH11):c.1034-12T>G variant DOID:65 connective tissue disease IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Connective tissue disease PMID:25741868|PMID:28492532 10055585 CV197910 NM_002474.3(MYH11):c.1034-12T>G variant DOID:9000664 Familial Thoracic Aortic Aneurysm 4 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus PMID:25741868|PMID:28492532 10055586 CV197905 NM_002474.3(MYH11):c.1575+8del variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10055586 CV197905 NM_002474.3(MYH11):c.1575+8del variant DOID:9000664 Familial Thoracic Aortic Aneurysm 4 IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus PMID:25741868|PMID:28492532 10055586 CV197905 NM_002474.3(MYH11):c.1575+8del variant DOID:9001104 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 PMID:25741868|PMID:28492532 10055586 CV197905 NM_002474.3(MYH11):c.1575+8del variant DOID:9009175 Visceral Myopathy 2 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: VISCERAL MYOPATHY 2 PMID:25741868|PMID:28492532 10055588 CV197901 NM_002474.3(MYH11):c.1763C>T (p.Ala588Val) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868 10055589 CV197900 NM_002474.3(MYH11):c.1768G>A (p.Ala590Thr) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10055589 CV197900 NM_002474.3(MYH11):c.1768G>A (p.Ala590Thr) variant DOID:9000664 Familial Thoracic Aortic Aneurysm 4 IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus PMID:25741868|PMID:28492532 10055590 CV197899 NM_002474.3(MYH11):c.2075C>T (p.Ala692Val) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:23696586|PMID:25741868|PMID:28492532 10055590 CV197899 NM_002474.3(MYH11):c.2075C>T (p.Ala692Val) variant DOID:9000664 Familial Thoracic Aortic Aneurysm 4 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus PMID:23696586|PMID:25741868|PMID:28492532 10055592 CV197896 NM_002474.3(MYH11):c.2648C>T (p.Ser883Leu) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:20226094|PMID:25741868|PMID:28492532 10055592 CV197896 NM_002474.3(MYH11):c.2648C>T (p.Ser883Leu) variant DOID:9000664 Familial Thoracic Aortic Aneurysm 4 IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus PMID:20226094|PMID:25741868|PMID:28492532 10055593 CV197895 NM_002474.3(MYH11):c.2741C>T (p.Ala914Val) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10055593 CV197895 NM_002474.3(MYH11):c.2741C>T (p.Ala914Val) variant DOID:9000664 Familial Thoracic Aortic Aneurysm 4 IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus PMID:25741868|PMID:28492532 10055593 CV197895 NM_002474.3(MYH11):c.2741C>T (p.Ala914Val) variant DOID:9001104 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 PMID:25741868|PMID:28492532 10055593 CV197895 NM_002474.3(MYH11):c.2741C>T (p.Ala914Val) variant DOID:9009175 Visceral Myopathy 2 IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: VISCERAL MYOPATHY 2 PMID:25741868|PMID:28492532 10055594 CV197894 NM_002474.3(MYH11):c.2893G>T (p.Ala965Ser) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10055594 CV197894 NM_002474.3(MYH11):c.2893G>T (p.Ala965Ser) variant DOID:9000664 Familial Thoracic Aortic Aneurysm 4 IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus PMID:25741868|PMID:28492532 10055595 CV197892 NM_002474.3(MYH11):c.3125G>A (p.Arg1042Gln) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10055595 CV197892 NM_002474.3(MYH11):c.3125G>A (p.Arg1042Gln) variant DOID:9000664 Familial Thoracic Aortic Aneurysm 4 IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus PMID:25741868|PMID:28492532 10055595 CV197892 NM_002474.3(MYH11):c.3125G>A (p.Arg1042Gln) variant DOID:9001104 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 PMID:25741868|PMID:28492532 10055595 CV197892 NM_002474.3(MYH11):c.3125G>A (p.Arg1042Gln) variant DOID:9009175 Visceral Myopathy 2 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: VISCERAL MYOPATHY 2 PMID:25741868|PMID:28492532 10055596 CV197891 NM_002474.3(MYH11):c.3281C>T (p.Ala1094Val) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532|PMID:30809044|PMID:31389005|PMID:31944481 10055596 CV197891 NM_002474.3(MYH11):c.3281C>T (p.Ala1094Val) variant DOID:9000664 Familial Thoracic Aortic Aneurysm 4 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus PMID:25741868|PMID:28492532|PMID:30809044|PMID:31389005|PMID:31944481 10055596 CV197891 NM_002474.3(MYH11):c.3281C>T (p.Ala1094Val) variant DOID:9001104 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 PMID:25741868|PMID:28492532|PMID:30809044|PMID:31389005|PMID:31944481 10055596 CV197891 NM_002474.3(MYH11):c.3281C>T (p.Ala1094Val) variant DOID:9009175 Visceral Myopathy 2 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: VISCERAL MYOPATHY 2 PMID:25741868|PMID:28492532|PMID:30809044|PMID:31389005|PMID:31944481 10055597 CV197890 NM_002474.3(MYH11):c.3291C>T (p.Ala1097=) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10055597 CV197890 NM_002474.3(MYH11):c.3291C>T (p.Ala1097=) variant DOID:14323 Marfan syndrome IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Marfan syndrome PMID:25741868|PMID:28492532 10055597 CV197890 NM_002474.3(MYH11):c.3291C>T (p.Ala1097=) variant DOID:9000664 Familial Thoracic Aortic Aneurysm 4 IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus PMID:25741868|PMID:28492532 10055597 CV197890 NM_002474.3(MYH11):c.3291C>T (p.Ala1097=) variant DOID:9004097 Marfanoid Hypermobility Syndrome IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Marfan syndrome type 1 PMID:25741868|PMID:28492532 10055598 CV197889 NM_002474.3(MYH11):c.3340C>T (p.Arg1114Trp) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and aortic dissections PMID:25741868|PMID:28492532 10055598 CV197889 NM_002474.3(MYH11):c.3340C>T (p.Arg1114Trp) variant DOID:9000664 Familial Thoracic Aortic Aneurysm 4 IAGP D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 PMID:25741868|PMID:28492532 10055599 CV197888 NM_002474.3(MYH11):c.3530C>T (p.Thr1177Met) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection PMID:25741868|PMID:28492532 10055599 CV197888 NM_002474.3(MYH11):c.3530C>T (p.Thr1177Met) variant DOID:9000664 Familial Thoracic Aortic Aneurysm 4 IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus PMID:25741868|PMID:28492532 10055600 CV197887 NM_002474.3(MYH11):c.3562C>T (p.Arg1188Trp) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532|PMID:28659821|PMID:29907982 10055600 CV197887 NM_002474.3(MYH11):c.3562C>T (p.Arg1188Trp) variant DOID:9000664 Familial Thoracic Aortic Aneurysm 4 IAGP D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus PMID:25741868|PMID:28492532|PMID:28659821|PMID:29907982 10055601 CV197886 NM_002474.3(MYH11):c.3563G>A (p.Arg1188Gln) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and aortic dissections PMID:25741868|PMID:28492532 10055601 CV197886 NM_002474.3(MYH11):c.3563G>A (p.Arg1188Gln) variant DOID:3627 aortic aneurysm IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Aortic dilatation PMID:25741868|PMID:28492532 10055601 CV197886 NM_002474.3(MYH11):c.3563G>A (p.Arg1188Gln) variant DOID:9000664 Familial Thoracic Aortic Aneurysm 4 IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 PMID:25741868|PMID:28492532 10055603 CV197880 NM_002474.3(MYH11):c.3827C>T (p.Ala1276Val) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection PMID:25741868|PMID:28492532 10055603 CV197880 NM_002474.3(MYH11):c.3827C>T (p.Ala1276Val) variant DOID:9000664 Familial Thoracic Aortic Aneurysm 4 IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 PMID:25741868|PMID:28492532 10055604 CV197879 NM_002474.3(MYH11):c.3928G>A (p.Val1310Met) variant DOID:0050453 lissencephaly IAGP D RGD:8554872 20181009 ClinVar ClinVar Annotator: match by term: Lissencephaly, Recessive PMID:25741868|PMID:28492532 10055604 CV197879 NM_002474.3(MYH11):c.3928G>A (p.Val1310Met) variant DOID:0112235 lissencephaly 4 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Lissencephaly 4 PMID:25741868|PMID:28492532 10055604 CV197879 NM_002474.3(MYH11):c.3928G>A (p.Val1310Met) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20181009 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and aortic dissections PMID:25741868|PMID:28492532 10055604 CV197879 NM_002474.3(MYH11):c.3928G>A (p.Val1310Met) variant DOID:65 connective tissue disease IAGP D RGD:8554872 20181009 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 10055604 CV197879 NM_002474.3(MYH11):c.3928G>A (p.Val1310Met) variant DOID:9000664 Familial Thoracic Aortic Aneurysm 4 IAGP D RGD:8554872 20181009 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 PMID:25741868|PMID:28492532 10055604 CV197879 NM_002474.3(MYH11):c.3928G>A (p.Val1310Met) variant DOID:9001104 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 PMID:25741868|PMID:28492532 10055604 CV197879 NM_002474.3(MYH11):c.3928G>A (p.Val1310Met) variant DOID:9009175 Visceral Myopathy 2 IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Visceral myopathy 2 PMID:25741868|PMID:28492532 10055605 CV197878 NM_002474.3(MYH11):c.3932C>T (p.Ala1311Val) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10055605 CV197878 NM_002474.3(MYH11):c.3932C>T (p.Ala1311Val) variant DOID:9000664 Familial Thoracic Aortic Aneurysm 4 IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus PMID:25741868|PMID:28492532 10055606 CV197876 NM_002474.3(MYH11):c.3973C>G (p.Gln1325Glu) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10055606 CV197876 NM_002474.3(MYH11):c.3973C>G (p.Gln1325Glu) variant DOID:9000664 Familial Thoracic Aortic Aneurysm 4 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus PMID:25741868|PMID:28492532 10055607 CV197875 NM_002474.3(MYH11):c.4016G>A (p.Arg1339His) variant DOID:0050453 lissencephaly IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Lissencephaly, Recessive PMID:25741868|PMID:28492532|PMID:31389005|PMID:31944481 10055607 CV197875 NM_002474.3(MYH11):c.4016G>A (p.Arg1339His) variant DOID:0112235 lissencephaly 4 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Lissencephaly 4 PMID:25741868|PMID:28492532|PMID:31389005|PMID:31944481 10055607 CV197875 NM_002474.3(MYH11):c.4016G>A (p.Arg1339His) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532|PMID:31389005|PMID:31944481 10055607 CV197875 NM_002474.3(MYH11):c.4016G>A (p.Arg1339His) variant DOID:9000664 Familial Thoracic Aortic Aneurysm 4 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 PMID:25741868|PMID:28492532|PMID:31389005|PMID:31944481 10055609 CV197869 NM_002474.3(MYH11):c.4240G>A (p.Ala1414Thr) variant DOID:0112235 lissencephaly 4 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Lissencephaly 4 (with microcephaly) PMID:25741868|PMID:28492532 10055609 CV197869 NM_002474.3(MYH11):c.4240G>A (p.Ala1414Thr) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10055609 CV197869 NM_002474.3(MYH11):c.4240G>A (p.Ala1414Thr) variant DOID:65 connective tissue disease IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Connective tissue disease PMID:25741868|PMID:28492532 10055609 CV197869 NM_002474.3(MYH11):c.4240G>A (p.Ala1414Thr) variant DOID:9000664 Familial Thoracic Aortic Aneurysm 4 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus PMID:25741868|PMID:28492532 10055610 CV197867 NM_002474.3(MYH11):c.4303G>A (p.Asp1435Asn) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10055610 CV197867 NM_002474.3(MYH11):c.4303G>A (p.Asp1435Asn) variant DOID:9000664 Familial Thoracic Aortic Aneurysm 4 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus PMID:25741868|PMID:28492532 10055610 CV197867 NM_002474.3(MYH11):c.4303G>A (p.Asp1435Asn) variant DOID:9001104 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 PMID:25741868|PMID:28492532 10055610 CV197867 NM_002474.3(MYH11):c.4303G>A (p.Asp1435Asn) variant DOID:9009175 Visceral Myopathy 2 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: VISCERAL MYOPATHY 2 PMID:25741868|PMID:28492532 10055611 CV197866 NM_002474.3(MYH11):c.4401C>G (p.Tyr1467Ter) variant DOID:9000664 Familial Thoracic Aortic Aneurysm 4 IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 PMID:25407000|PMID:28492532|PMID:29575632 10055612 CV197865 NM_002474.3(MYH11):c.4403C>T (p.Ala1468Val) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532|PMID:34498425 10055612 CV197865 NM_002474.3(MYH11):c.4403C>T (p.Ala1468Val) variant DOID:9000664 Familial Thoracic Aortic Aneurysm 4 IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus PMID:25741868|PMID:28492532|PMID:34498425 10055612 CV197865 NM_002474.3(MYH11):c.4403C>T (p.Ala1468Val) variant DOID:9001104 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 PMID:25741868|PMID:28492532|PMID:34498425 10055612 CV197865 NM_002474.3(MYH11):c.4403C>T (p.Ala1468Val) variant DOID:9009175 Visceral Myopathy 2 IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: VISCERAL MYOPATHY 2 PMID:25741868|PMID:28492532|PMID:34498425 10055613 CV197864 NM_002474.3(MYH11):c.4538T>A (p.Met1513Lys) variant DOID:9000664 Familial Thoracic Aortic Aneurysm 4 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 PMID:28492532 10055614 CV197861 NM_002474.3(MYH11):c.4717A>G (p.Lys1573Glu) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28469501 10055614 CV197861 NM_002474.3(MYH11):c.4717A>G (p.Lys1573Glu) variant DOID:9000664 Familial Thoracic Aortic Aneurysm 4 IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus PMID:25741868|PMID:28469501 10055614 CV197861 NM_002474.3(MYH11):c.4717A>G (p.Lys1573Glu) variant DOID:9001104 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 PMID:25741868|PMID:28469501 10055614 CV197861 NM_002474.3(MYH11):c.4717A>G (p.Lys1573Glu) variant DOID:9009175 Visceral Myopathy 2 IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: VISCERAL MYOPATHY 2 PMID:25741868|PMID:28469501 10055615 CV197860 NM_002474.3(MYH11):c.4735G>A (p.Asp1579Asn) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532|PMID:29907982|PMID:34422331 10055615 CV197860 NM_002474.3(MYH11):c.4735G>A (p.Asp1579Asn) variant DOID:9000664 Familial Thoracic Aortic Aneurysm 4 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus PMID:25741868|PMID:28492532|PMID:29907982|PMID:34422331 10055616 CV197858 NM_002474.3(MYH11):c.4826G>A (p.Arg1609Gln) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10055616 CV197858 NM_002474.3(MYH11):c.4826G>A (p.Arg1609Gln) variant DOID:9000664 Familial Thoracic Aortic Aneurysm 4 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus PMID:25741868|PMID:28492532 10055617 CV197856 NM_002474.3(MYH11):c.4994G>T (p.Arg1665Leu) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10055617 CV197856 NM_002474.3(MYH11):c.4994G>T (p.Arg1665Leu) variant DOID:9000664 Familial Thoracic Aortic Aneurysm 4 IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus PMID:25741868|PMID:28492532 10055617 CV197856 NM_002474.3(MYH11):c.4994G>T (p.Arg1665Leu) variant DOID:9001104 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 PMID:25741868|PMID:28492532 10055617 CV197856 NM_002474.3(MYH11):c.4994G>T (p.Arg1665Leu) variant DOID:9009175 Visceral Myopathy 2 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: VISCERAL MYOPATHY 2 PMID:25741868|PMID:28492532 10055618 CV197855 NM_002474.3(MYH11):c.5093C>T (p.Ala1698Val) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868 10055619 CV197853 NM_002474.3(MYH11):c.5269G>A (p.Asp1757Asn) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10055619 CV197853 NM_002474.3(MYH11):c.5269G>A (p.Asp1757Asn) variant DOID:9000664 Familial Thoracic Aortic Aneurysm 4 IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus PMID:25741868|PMID:28492532 10055620 CV197850 NM_002474.3(MYH11):c.5375G>A (p.Arg1792Gln) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10055620 CV197850 NM_002474.3(MYH11):c.5375G>A (p.Arg1792Gln) variant DOID:9000664 Familial Thoracic Aortic Aneurysm 4 IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus PMID:25741868|PMID:28492532 10055621 CV197847 NM_002474.3(MYH11):c.5450C>T (p.Ala1817Val) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20200407 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10055621 CV197847 NM_002474.3(MYH11):c.5450C>T (p.Ala1817Val) variant DOID:65 connective tissue disease IAGP D RGD:8554872 20200407 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 10055621 CV197847 NM_002474.3(MYH11):c.5450C>T (p.Ala1817Val) variant DOID:9000664 Familial Thoracic Aortic Aneurysm 4 IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus PMID:25741868|PMID:28492532 10055622 CV197846 NM_002474.3(MYH11):c.5499G>C (p.Glu1833Asp) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection PMID:25741868|PMID:27146836|PMID:28492532 10055622 CV197846 NM_002474.3(MYH11):c.5499G>C (p.Glu1833Asp) variant DOID:630 genetic disease IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:27146836|PMID:28492532 10055622 CV197846 NM_002474.3(MYH11):c.5499G>C (p.Glu1833Asp) variant DOID:9000664 Familial Thoracic Aortic Aneurysm 4 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus PMID:25741868|PMID:27146836|PMID:28492532 10055622 CV197846 NM_002474.3(MYH11):c.5499G>C (p.Glu1833Asp) variant DOID:9001104 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 PMID:25741868|PMID:27146836|PMID:28492532 10055622 CV197846 NM_002474.3(MYH11):c.5499G>C (p.Glu1833Asp) variant DOID:9009175 Visceral Myopathy 2 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Visceral myopathy 2 PMID:25741868|PMID:27146836|PMID:28492532 10055624 CV197843 NM_002474.3(MYH11):c.5581G>A (p.Glu1861Lys) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10055624 CV197843 NM_002474.3(MYH11):c.5581G>A (p.Glu1861Lys) variant DOID:9000664 Familial Thoracic Aortic Aneurysm 4 IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus PMID:25741868|PMID:28492532 10055625 CV197842 NM_002474.3(MYH11):c.5585G>A (p.Arg1862His) variant DOID:0050453 lissencephaly IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Lissencephaly, Recessive PMID:18391202|PMID:25741868|PMID:26436109|PMID:28492532|PMID:28679693|PMID:30122538 10055625 CV197842 NM_002474.3(MYH11):c.5585G>A (p.Arg1862His) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm PMID:18391202|PMID:25741868|PMID:26436109|PMID:28492532|PMID:28679693|PMID:30122538 10055625 CV197842 NM_002474.3(MYH11):c.5585G>A (p.Arg1862His) variant DOID:9000664 Familial Thoracic Aortic Aneurysm 4 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus PMID:18391202|PMID:25741868|PMID:26436109|PMID:28492532|PMID:28679693|PMID:30122538 10055626 CV197841 NM_002474.3(MYH11):c.5666C>T (p.Ala1889Val) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532|PMID:28659821|PMID:29510914 10055626 CV197841 NM_002474.3(MYH11):c.5666C>T (p.Ala1889Val) variant DOID:9000664 Familial Thoracic Aortic Aneurysm 4 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus PMID:25741868|PMID:28492532|PMID:28659821|PMID:29510914 10055627 CV197840 NM_002474.3(MYH11):c.5732C>A (p.Thr1911Lys) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868 10055628 CV197838 NM_002474.3(MYH11):c.5767G>A (p.Ala1923Thr) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10055628 CV197838 NM_002474.3(MYH11):c.5767G>A (p.Ala1923Thr) variant DOID:9000664 Familial Thoracic Aortic Aneurysm 4 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus PMID:25741868|PMID:28492532 10055628 CV197838 NM_002474.3(MYH11):c.5767G>A (p.Ala1923Thr) variant DOID:9001104 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 PMID:25741868|PMID:28492532 10055628 CV197838 NM_002474.3(MYH11):c.5767G>A (p.Ala1923Thr) variant DOID:9009175 Visceral Myopathy 2 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: VISCERAL MYOPATHY 2 PMID:25741868|PMID:28492532 10055629 CV197928 NM_002474.3(MYH11):c.33G>C (p.Glu11Asp) variant DOID:9000664 Familial Thoracic Aortic Aneurysm 4 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 PMID:28492532|PMID:30056620 10055630 CV197927 NM_002474.3(MYH11):c.94G>A (p.Ala32Thr) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10055630 CV197927 NM_002474.3(MYH11):c.94G>A (p.Ala32Thr) variant DOID:9000664 Familial Thoracic Aortic Aneurysm 4 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus PMID:25741868|PMID:28492532 10055630 CV197927 NM_002474.3(MYH11):c.94G>A (p.Ala32Thr) variant DOID:9001104 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 PMID:25741868|PMID:28492532 10055630 CV197927 NM_002474.3(MYH11):c.94G>A (p.Ala32Thr) variant DOID:9009175 Visceral Myopathy 2 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: VISCERAL MYOPATHY 2 PMID:25741868|PMID:28492532 10055631 CV197926 NM_002474.3(MYH11):c.217A>C (p.Lys73Gln) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20181009 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and aortic dissections PMID:25741868|PMID:28492532 10055631 CV197926 NM_002474.3(MYH11):c.217A>C (p.Lys73Gln) variant DOID:65 connective tissue disease IAGP D RGD:8554872 20181009 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 10055631 CV197926 NM_002474.3(MYH11):c.217A>C (p.Lys73Gln) variant DOID:9000664 Familial Thoracic Aortic Aneurysm 4 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus PMID:25741868|PMID:28492532 10055632 CV197924 NM_002474.3(MYH11):c.291C>G (p.Asn97Lys) variant DOID:9000664 Familial Thoracic Aortic Aneurysm 4 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 PMID:28492532 10055633 CV197923 NM_002474.3(MYH11):c.301G>A (p.Val101Met) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532|PMID:36103205 10055633 CV197923 NM_002474.3(MYH11):c.301G>A (p.Val101Met) variant DOID:9000664 Familial Thoracic Aortic Aneurysm 4 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus PMID:25741868|PMID:28492532|PMID:36103205 10055634 CV197921 NM_002474.3(MYH11):c.479C>T (p.Thr160Met) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10055634 CV197921 NM_002474.3(MYH11):c.479C>T (p.Thr160Met) variant DOID:9000664 Familial Thoracic Aortic Aneurysm 4 IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 PMID:25741868|PMID:28492532 10055635 CV197920 NM_002474.3(MYH11):c.508G>A (p.Glu170Lys) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10055635 CV197920 NM_002474.3(MYH11):c.508G>A (p.Glu170Lys) variant DOID:9000664 Familial Thoracic Aortic Aneurysm 4 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus PMID:25741868|PMID:28492532 10055636 CV197918 NM_001040113.2(MYH11):c.654+1G>A variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:16199547|PMID:25407000|PMID:25741868|PMID:28492532|PMID:29575632 10055636 CV197918 NM_001040113.2(MYH11):c.654+1G>A variant DOID:9000664 Familial Thoracic Aortic Aneurysm 4 IAGP D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus PMID:16199547|PMID:25407000|PMID:25741868|PMID:28492532|PMID:29575632 10055636 CV197918 NM_001040113.2(MYH11):c.654+1G>A variant DOID:9001104 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 IAGP D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 PMID:16199547|PMID:25407000|PMID:25741868|PMID:28492532|PMID:29575632 10055636 CV197918 NM_001040113.2(MYH11):c.654+1G>A variant DOID:9009175 Visceral Myopathy 2 IAGP D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: VISCERAL MYOPATHY 2 PMID:16199547|PMID:25407000|PMID:25741868|PMID:28492532|PMID:29575632 10055637 CV197917 NM_002474.3(MYH11):c.769G>A (p.Val257Met) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and aortic dissections PMID:25741868|PMID:28492532 10055637 CV197917 NM_002474.3(MYH11):c.769G>A (p.Val257Met) variant DOID:9000664 Familial Thoracic Aortic Aneurysm 4 IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 PMID:25741868|PMID:28492532 10055639 CV197914 NM_002474.3(MYH11):c.914A>G (p.Asn305Ser) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20180807 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and aortic dissections PMID:25741868|PMID:28492532 10055639 CV197914 NM_002474.3(MYH11):c.914A>G (p.Asn305Ser) variant DOID:65 connective tissue disease IAGP D RGD:8554872 20180807 ClinVar ClinVar Annotator: match by term: Connective tissue disorder PMID:25741868|PMID:28492532 10055639 CV197914 NM_002474.3(MYH11):c.914A>G (p.Asn305Ser) variant DOID:9000664 Familial Thoracic Aortic Aneurysm 4 IAGP D RGD:8554872 20180807 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 PMID:25741868|PMID:28492532 10055640 CV197913 NM_002474.3(MYH11):c.963G>C (p.Gln321His) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10055640 CV197913 NM_002474.3(MYH11):c.963G>C (p.Gln321His) variant DOID:9000664 Familial Thoracic Aortic Aneurysm 4 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 PMID:25741868|PMID:28492532 10055642 CV197909 NM_002474.3(MYH11):c.1037T>C (p.Ile346Thr) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10055642 CV197909 NM_002474.3(MYH11):c.1037T>C (p.Ile346Thr) variant DOID:9000664 Familial Thoracic Aortic Aneurysm 4 IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus PMID:25741868|PMID:28492532 10055643 CV197908 NM_002474.3(MYH11):c.1202T>C (p.Ile401Thr) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:24033266|PMID:25741868|PMID:28492532 10055643 CV197908 NM_002474.3(MYH11):c.1202T>C (p.Ile401Thr) variant DOID:9000664 Familial Thoracic Aortic Aneurysm 4 IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus PMID:24033266|PMID:25741868|PMID:28492532 10055643 CV197908 NM_002474.3(MYH11):c.1202T>C (p.Ile401Thr) variant DOID:9001104 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 PMID:24033266|PMID:25741868|PMID:28492532 10055643 CV197908 NM_002474.3(MYH11):c.1202T>C (p.Ile401Thr) variant DOID:9009175 Visceral Myopathy 2 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: VISCERAL MYOPATHY 2 PMID:24033266|PMID:25741868|PMID:28492532 10055644 CV197907 NM_002474.3(MYH11):c.1502G>A (p.Arg501His) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:26017485|PMID:28492532|PMID:28855619|PMID:29650765|PMID:35372177 10055644 CV197907 NM_002474.3(MYH11):c.1502G>A (p.Arg501His) variant DOID:9000664 Familial Thoracic Aortic Aneurysm 4 IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus PMID:25741868|PMID:26017485|PMID:28492532|PMID:28855619|PMID:29650765|PMID:35372177 10055645 CV197906 NM_002474.3(MYH11):c.1528G>A (p.Asp510Asn) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10055645 CV197906 NM_002474.3(MYH11):c.1528G>A (p.Asp510Asn) variant DOID:9000664 Familial Thoracic Aortic Aneurysm 4 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus PMID:25741868|PMID:28492532 10055647 CV197862 NM_002474.3(MYH11):c.4578+2dup variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:17576681|PMID:28492532|PMID:9536098 10055647 CV197862 NM_002474.3(MYH11):c.4578+2dup variant DOID:9000664 Familial Thoracic Aortic Aneurysm 4 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: AORTIC ANEURYSM/AORTIC DISSECTION AND PATENT DUCTUS ARTERIOSUS PMID:17576681|PMID:28492532|PMID:9536098 10055649 CV197870 NM_002474.3(MYH11):c.4177G>C (p.Gly1393Arg) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10055649 CV197870 NM_002474.3(MYH11):c.4177G>C (p.Gly1393Arg) variant DOID:9000664 Familial Thoracic Aortic Aneurysm 4 IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus PMID:25741868|PMID:28492532 10055651 CV197859 NM_002474.3(MYH11):c.4756C>G (p.Gln1586Glu) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and aortic dissections PMID:25741868|PMID:28492532 10055651 CV197859 NM_002474.3(MYH11):c.4756C>G (p.Gln1586Glu) variant DOID:9000664 Familial Thoracic Aortic Aneurysm 4 IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 PMID:25741868|PMID:28492532 10055651 CV197859 NM_002474.3(MYH11):c.4756C>G (p.Gln1586Glu) variant DOID:9001104 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 PMID:25741868|PMID:28492532 10055651 CV197859 NM_002474.3(MYH11):c.4756C>G (p.Gln1586Glu) variant DOID:9009175 Visceral Myopathy 2 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: VISCERAL MYOPATHY 2 PMID:25741868|PMID:28492532 10055652 CV197849 NM_002474.3(MYH11):c.5393G>A (p.Arg1798Gln) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10055652 CV197849 NM_002474.3(MYH11):c.5393G>A (p.Arg1798Gln) variant DOID:9000664 Familial Thoracic Aortic Aneurysm 4 IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus PMID:25741868|PMID:28492532 10055653 CV197848 NM_002474.3(MYH11):c.5422G>A (p.Val1808Ile) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10055653 CV197848 NM_002474.3(MYH11):c.5422G>A (p.Val1808Ile) variant DOID:9000664 Familial Thoracic Aortic Aneurysm 4 IAGP D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 4 PMID:25741868|PMID:28492532 10055655 CV197834 NM_001040113.2(MYH11):c.5819C>T (p.Pro1940Leu) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10055655 CV197834 NM_001040113.2(MYH11):c.5819C>T (p.Pro1940Leu) variant DOID:9000664 Familial Thoracic Aortic Aneurysm 4 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus PMID:25741868|PMID:28492532 10055656 CV197925 NM_002474.3(MYH11):c.281C>T (p.Thr94Met) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Aortic aneurysm, thoracic PMID:25741868|PMID:28492532 10055656 CV197925 NM_002474.3(MYH11):c.281C>T (p.Thr94Met) variant DOID:9000664 Familial Thoracic Aortic Aneurysm 4 IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus PMID:25741868|PMID:28492532 10055657 CV197919 NM_002474.3(MYH11):c.632C>T (p.Thr211Met) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10055657 CV197919 NM_002474.3(MYH11):c.632C>T (p.Thr211Met) variant DOID:9000664 Familial Thoracic Aortic Aneurysm 4 IAGP D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus PMID:25741868|PMID:28492532 10055658 CV196757 NM_174936.4(PCSK9):c.1420G>A (p.Val474Ile) variant DOID:13810 familial hypercholesterolemia IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia 1 PMID:25741868|PMID:28492532 10055658 CV196757 NM_174936.4(PCSK9):c.1420G>A (p.Val474Ile) variant DOID:1390 hypobetalipoproteinemia IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Hypobetalipoproteinemia PMID:25741868|PMID:28492532 10055658 CV196757 NM_174936.4(PCSK9):c.1420G>A (p.Val474Ile) variant DOID:9005308 Hypercholesterolemia, Autosomal Dominant, 3 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia 3 PMID:25741868|PMID:28492532 10055658 CV196757 NM_174936.4(PCSK9):c.1420G>A (p.Val474Ile) variant DOID:9005519 Hyperlipoproteinemia Type II IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia PMID:25741868|PMID:28492532 10055659 CV196755 NM_174936.4(PCSK9):c.1380A>G (p.Val460=) variant DOID:13810 familial hypercholesterolemia IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia 1 PMID:25741868|PMID:28492532 10055659 CV196755 NM_174936.4(PCSK9):c.1380A>G (p.Val460=) variant DOID:1390 hypobetalipoproteinemia IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Hypobetalipoproteinemia PMID:25741868|PMID:28492532 10055659 CV196755 NM_174936.4(PCSK9):c.1380A>G (p.Val460=) variant DOID:9005308 Hypercholesterolemia, Autosomal Dominant, 3 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia 3 PMID:25741868|PMID:28492532 10055659 CV196755 NM_174936.4(PCSK9):c.1380A>G (p.Val460=) variant DOID:9005519 Hyperlipoproteinemia Type II IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia PMID:25741868|PMID:28492532 10055661 CV196559 NM_001035.3(RYR2):c.2204-16G>T variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:28492532 10055662 CV196560 NM_001035.3(RYR2):c.2253T>G (p.Thr751=) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10055662 CV196560 NM_001035.3(RYR2):c.2253T>G (p.Thr751=) variant DOID:0060674 catecholaminergic polymorphic ventricular tachycardia IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28492532 10055662 CV196560 NM_001035.3(RYR2):c.2253T>G (p.Thr751=) variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia type 1 PMID:25741868|PMID:28492532 10055663 CV196562 NM_001035.3(RYR2):c.2397-16C>T variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:28492532 10055664 CV196566 NM_001035.3(RYR2):c.2574G>A (p.Thr858=) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10055664 CV196566 NM_001035.3(RYR2):c.2574G>A (p.Thr858=) variant DOID:0060674 catecholaminergic polymorphic ventricular tachycardia IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28492532 10055664 CV196566 NM_001035.3(RYR2):c.2574G>A (p.Thr858=) variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia type 1 PMID:25741868|PMID:28492532 10055665 CV196580 NM_001035.3(RYR2):c.3720C>T (p.Ala1240=) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10055665 CV196580 NM_001035.3(RYR2):c.3720C>T (p.Ala1240=) variant DOID:0060674 catecholaminergic polymorphic ventricular tachycardia IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28492532 10055665 CV196580 NM_001035.3(RYR2):c.3720C>T (p.Ala1240=) variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:25741868|PMID:28492532 10055665 CV196580 NM_001035.3(RYR2):c.3720C>T (p.Ala1240=) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: RYR2-related condition PMID:25741868|PMID:28492532 10055667 CV196604 NM_001035.3(RYR2):c.5373C>A (p.Thr1791=) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10055667 CV196604 NM_001035.3(RYR2):c.5373C>A (p.Thr1791=) variant DOID:0060674 catecholaminergic polymorphic ventricular tachycardia IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28492532 10055667 CV196604 NM_001035.3(RYR2):c.5373C>A (p.Thr1791=) variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia type 1 PMID:25741868|PMID:28492532 10055669 CV196620 NM_001035.3(RYR2):c.6738G>T (p.Ser2246=) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10055669 CV196620 NM_001035.3(RYR2):c.6738G>T (p.Ser2246=) variant DOID:0060674 catecholaminergic polymorphic ventricular tachycardia IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28492532 10055669 CV196620 NM_001035.3(RYR2):c.6738G>T (p.Ser2246=) variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:25741868|PMID:28492532 10055670 CV196638 NM_001035.3(RYR2):c.7542G>A (p.Leu2514=) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10055670 CV196638 NM_001035.3(RYR2):c.7542G>A (p.Leu2514=) variant DOID:0060674 catecholaminergic polymorphic ventricular tachycardia IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28492532 10055670 CV196638 NM_001035.3(RYR2):c.7542G>A (p.Leu2514=) variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia type 1 PMID:25741868|PMID:28492532 10055670 CV196638 NM_001035.3(RYR2):c.7542G>A (p.Leu2514=) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: RYR2-related condition PMID:25741868|PMID:28492532 10055672 CV196646 NM_001035.3(RYR2):c.8367T>C (p.Ile2789=) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10055672 CV196646 NM_001035.3(RYR2):c.8367T>C (p.Ile2789=) variant DOID:0060674 catecholaminergic polymorphic ventricular tachycardia IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28492532 10055672 CV196646 NM_001035.3(RYR2):c.8367T>C (p.Ile2789=) variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:25741868|PMID:28492532 10055673 CV196680 NM_001035.3(RYR2):c.11402+7_11402+9del variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:28492532 10055674 CV196681 NM_001035.3(RYR2):c.11476+10A>C variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10055674 CV196681 NM_001035.3(RYR2):c.11476+10A>C variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:25741868|PMID:28492532 10055676 CV196711 NM_001035.3(RYR2):c.12492G>A (p.Gln4164=) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:18752142|PMID:25741868|PMID:28492532 10055676 CV196711 NM_001035.3(RYR2):c.12492G>A (p.Gln4164=) variant DOID:0060674 catecholaminergic polymorphic ventricular tachycardia IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:18752142|PMID:25741868|PMID:28492532 10055676 CV196711 NM_001035.3(RYR2):c.12492G>A (p.Gln4164=) variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia type 1 PMID:18752142|PMID:25741868|PMID:28492532 10055677 CV196723 NM_001035.3(RYR2):c.12858C>T (p.Ser4286=) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10055677 CV196723 NM_001035.3(RYR2):c.12858C>T (p.Ser4286=) variant DOID:0060674 catecholaminergic polymorphic ventricular tachycardia IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28492532 10055677 CV196723 NM_001035.3(RYR2):c.12858C>T (p.Ser4286=) variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia type 1 PMID:25741868|PMID:28492532 10055678 CV196738 NM_001035.3(RYR2):c.14152-17C>G variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:28492532 10055679 CV197016 NM_000335.5(SCN5A):c.42C>T (p.Arg14=) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Arrhythmia PMID:25741868|PMID:28492532 10055680 CV197000 NM_001099404.2(SCN5A):c.648G>A (p.Ser216=) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Arrhythmia PMID:25741868 10055681 CV196987 NM_000335.5(SCN5A):c.1141-4C>T variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868 10055682 CV196966 NM_000335.5(SCN5A):c.1821C>T (p.Gly607=) variant DOID:0110218 Brugada syndrome 1 IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Right bundle branch block, ST segment elevation, and sudden death syndrome PMID:25741868|PMID:28492532|PMID:37732247 10055682 CV196966 NM_000335.5(SCN5A):c.1821C>T (p.Gly607=) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:25741868|PMID:28492532|PMID:37732247 10055683 CV196965 NM_000335.5(SCN5A):c.1842A>G (p.Pro614=) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Arrhythmia PMID:25741868|PMID:28492532 10055684 CV196950 NM_000335.5(SCN5A):c.2253C>T (p.Val751=) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Arrhythmia PMID:25741868|PMID:28492532 10055686 CV196924 NM_000335.5(SCN5A):c.3048G>A (p.Thr1016=) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:23105938|PMID:25741868|PMID:28492532 10055687 CV196897 NM_000335.5(SCN5A):c.3879C>T (p.Ala1293=) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Arrhythmia PMID:24033266|PMID:25741868|PMID:28492532 10055688 CV196862 NM_000335.5(SCN5A):c.4932G>A (p.Thr1644=) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmias PMID:25741868|PMID:28492532 10055689 CV196834 NM_000335.5(SCN5A):c.5799C>T (p.Ser1933=) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmias PMID:24033266|PMID:25741868|PMID:28492532 10055690 CV198382 NM_020297.4(ABCC9):c.285-16G>A variant DOID:0110451 dilated cardiomyopathy 1O IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1O PMID:25741868|PMID:28492532 10055691 CV198377 NM_020297.4(ABCC9):c.2826T>C (p.Tyr942=) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10055691 CV198377 NM_020297.4(ABCC9):c.2826T>C (p.Tyr942=) variant DOID:0060569 hypertrichotic osteochondrodysplasia Cantu type IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Hypertrichotic osteochondrodysplasia PMID:25741868|PMID:28492532 10055691 CV198377 NM_020297.4(ABCC9):c.2826T>C (p.Tyr942=) variant DOID:0110451 dilated cardiomyopathy 1O IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1O PMID:25741868|PMID:28492532 10055692 CV198056 NM_001103.4(ACTN2):c.1657-16T>C variant DOID:0110428 dilated cardiomyopathy 1AA IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1AA PMID:28492532 10055693 CV198070 NM_001103.4(ACTN2):c.2644G>A (p.Ala882Thr) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10055693 CV198070 NM_001103.4(ACTN2):c.2644G>A (p.Ala882Thr) variant DOID:0110428 dilated cardiomyopathy 1AA IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1AA PMID:25741868|PMID:28492532 10055694 CV198040 NM_001103.4(ACTN2):c.126+14C>T variant DOID:0110428 dilated cardiomyopathy 1AA IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1AA PMID:28492532 10055695 CV198041 NM_001103.4(ACTN2):c.143G>C (p.Cys48Ser) variant DOID:0110428 dilated cardiomyopathy 1AA IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1AA PMID:28492532 10055696 CV198042 NM_001103.4(ACTN2):c.278G>A (p.Arg93Gln) variant DOID:0080326 familial hypertrophic cardiomyopathy IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:25741868|PMID:28492532|PMID:31110529|PMID:31333075|PMID:31568572|PMID:39068400 10055696 CV198042 NM_001103.4(ACTN2):c.278G>A (p.Arg93Gln) variant DOID:0081342 congenital myopathy 8 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: MULTIPLE STRUCTURED CORE DISEASE PMID:25741868|PMID:28492532|PMID:31110529|PMID:31333075|PMID:31568572|PMID:39068400 10055696 CV198042 NM_001103.4(ACTN2):c.278G>A (p.Arg93Gln) variant DOID:0110307 hypertrophic cardiomyopathy 1 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:25741868|PMID:28492532|PMID:31110529|PMID:31333075|PMID:31568572|PMID:39068400 10055696 CV198042 NM_001103.4(ACTN2):c.278G>A (p.Arg93Gln) variant DOID:0110428 dilated cardiomyopathy 1AA IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1AA PMID:25741868|PMID:28492532|PMID:31110529|PMID:31333075|PMID:31568572|PMID:39068400 10055696 CV198042 NM_001103.4(ACTN2):c.278G>A (p.Arg93Gln) variant DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:25741868|PMID:28492532|PMID:31110529|PMID:31333075|PMID:31568572|PMID:39068400 10055696 CV198042 NM_001103.4(ACTN2):c.278G>A (p.Arg93Gln) variant DOID:9004033 Distal Myopathy 6 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Myopathy, distal, 6, adult-onset, autosomal dominant PMID:25741868|PMID:28492532|PMID:31110529|PMID:31333075|PMID:31568572|PMID:39068400 10055697 CV198043 NM_001103.4(ACTN2):c.353G>A (p.Gly118Asp) variant DOID:0110428 dilated cardiomyopathy 1AA IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1AA PMID:28492532 10055698 CV198044 NM_001103.4(ACTN2):c.496G>C (p.Ala166Pro) variant DOID:0080326 familial hypertrophic cardiomyopathy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy PMID:28492532 10055698 CV198044 NM_001103.4(ACTN2):c.496G>C (p.Ala166Pro) variant DOID:0110307 hypertrophic cardiomyopathy 1 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:28492532 10055698 CV198044 NM_001103.4(ACTN2):c.496G>C (p.Ala166Pro) variant DOID:0110428 dilated cardiomyopathy 1AA IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1AA PMID:28492532 10055701 CV198048 NM_001103.4(ACTN2):c.703G>A (p.Val235Met) variant DOID:0080326 familial hypertrophic cardiomyopathy IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy PMID:25741868|PMID:28492532 10055701 CV198048 NM_001103.4(ACTN2):c.703G>A (p.Val235Met) variant DOID:0081342 congenital myopathy 8 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MULTIPLE STRUCTURED CORE DISEASE PMID:25741868|PMID:28492532 10055701 CV198048 NM_001103.4(ACTN2):c.703G>A (p.Val235Met) variant DOID:0110307 hypertrophic cardiomyopathy 1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:25741868|PMID:28492532 10055701 CV198048 NM_001103.4(ACTN2):c.703G>A (p.Val235Met) variant DOID:0110428 dilated cardiomyopathy 1AA IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1AA PMID:25741868|PMID:28492532 10055701 CV198048 NM_001103.4(ACTN2):c.703G>A (p.Val235Met) variant DOID:9004033 Distal Myopathy 6 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myopathy, distal, 6, adult-onset, autosomal dominant PMID:25741868|PMID:28492532 10055702 CV198049 NM_001103.4(ACTN2):c.784-2A>G variant DOID:0110428 dilated cardiomyopathy 1AA IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1AA PMID:28492532 10055703 CV198050 NM_001103.4(ACTN2):c.794C>T (p.Ala265Val) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:25741868|PMID:28492532|PMID:30847666 10055703 CV198050 NM_001103.4(ACTN2):c.794C>T (p.Ala265Val) variant DOID:0080326 familial hypertrophic cardiomyopathy IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy PMID:25741868|PMID:28492532|PMID:30847666 10055703 CV198050 NM_001103.4(ACTN2):c.794C>T (p.Ala265Val) variant DOID:0110307 hypertrophic cardiomyopathy 1 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:25741868|PMID:28492532|PMID:30847666 10055703 CV198050 NM_001103.4(ACTN2):c.794C>T (p.Ala265Val) variant DOID:0110428 dilated cardiomyopathy 1AA IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1AA PMID:25741868|PMID:28492532|PMID:30847666 10055705 CV198051 NM_001103.4(ACTN2):c.926C>T (p.Pro309Leu) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10055705 CV198051 NM_001103.4(ACTN2):c.926C>T (p.Pro309Leu) variant DOID:0080326 familial hypertrophic cardiomyopathy IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy PMID:25741868|PMID:28492532 10055705 CV198051 NM_001103.4(ACTN2):c.926C>T (p.Pro309Leu) variant DOID:0110307 hypertrophic cardiomyopathy 1 IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:25741868|PMID:28492532 10055705 CV198051 NM_001103.4(ACTN2):c.926C>T (p.Pro309Leu) variant DOID:0110428 dilated cardiomyopathy 1AA IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1AA PMID:25741868|PMID:28492532 10055706 CV198052 NM_001103.4(ACTN2):c.1287C>G (p.Tyr429Ter) variant DOID:0110428 dilated cardiomyopathy 1AA IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1AA PMID:28492532 10055707 CV198053 NM_001103.4(ACTN2):c.1307A>C (p.Glu436Ala) variant DOID:0080326 familial hypertrophic cardiomyopathy IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 10055707 CV198053 NM_001103.4(ACTN2):c.1307A>C (p.Glu436Ala) variant DOID:0110428 dilated cardiomyopathy 1AA IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1AA PMID:25741868|PMID:28492532 10055708 CV198054 NM_001103.4(ACTN2):c.1348G>T (p.Asp450Tyr) variant DOID:0080326 familial hypertrophic cardiomyopathy IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy PMID:25741868|PMID:28492532 10055708 CV198054 NM_001103.4(ACTN2):c.1348G>T (p.Asp450Tyr) variant DOID:0081342 congenital myopathy 8 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MULTIPLE STRUCTURED CORE DISEASE PMID:25741868|PMID:28492532 10055708 CV198054 NM_001103.4(ACTN2):c.1348G>T (p.Asp450Tyr) variant DOID:0110307 hypertrophic cardiomyopathy 1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:25741868|PMID:28492532 10055708 CV198054 NM_001103.4(ACTN2):c.1348G>T (p.Asp450Tyr) variant DOID:0110428 dilated cardiomyopathy 1AA IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1AA PMID:25741868|PMID:28492532 10055708 CV198054 NM_001103.4(ACTN2):c.1348G>T (p.Asp450Tyr) variant DOID:9004033 Distal Myopathy 6 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myopathy, distal, 6, adult-onset, autosomal dominant PMID:25741868|PMID:28492532 10055709 CV198055 NM_001103.4(ACTN2):c.1516A>G (p.Arg506Gly) variant DOID:0080326 familial hypertrophic cardiomyopathy IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy PMID:25741868|PMID:28492532|PMID:38311799 10055709 CV198055 NM_001103.4(ACTN2):c.1516A>G (p.Arg506Gly) variant DOID:0110307 hypertrophic cardiomyopathy 1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:25741868|PMID:28492532|PMID:38311799 10055709 CV198055 NM_001103.4(ACTN2):c.1516A>G (p.Arg506Gly) variant DOID:0110428 dilated cardiomyopathy 1AA IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1AA PMID:25741868|PMID:28492532|PMID:38311799 10055709 CV198055 NM_001103.4(ACTN2):c.1516A>G (p.Arg506Gly) variant DOID:3529 congenital myopathy 1A IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Central core myopathy PMID:25741868|PMID:28492532|PMID:38311799 10055709 CV198055 NM_001103.4(ACTN2):c.1516A>G (p.Arg506Gly) variant DOID:440 neuromuscular disease IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Neuromuscular disease PMID:25741868|PMID:28492532|PMID:38311799 10055709 CV198055 NM_001103.4(ACTN2):c.1516A>G (p.Arg506Gly) variant DOID:9004033 Distal Myopathy 6 IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Myopathy, distal, 6, adult-onset, autosomal dominant PMID:25741868|PMID:28492532|PMID:38311799 10055710 CV198057 NM_001103.4(ACTN2):c.1723A>C (p.Ile575Leu) variant DOID:0080326 familial hypertrophic cardiomyopathy IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy PMID:28492532 10055710 CV198057 NM_001103.4(ACTN2):c.1723A>C (p.Ile575Leu) variant DOID:0110307 hypertrophic cardiomyopathy 1 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:28492532 10055710 CV198057 NM_001103.4(ACTN2):c.1723A>C (p.Ile575Leu) variant DOID:0110428 dilated cardiomyopathy 1AA IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1AA PMID:28492532 10055711 CV198058 NM_001103.4(ACTN2):c.1748A>G (p.Glu583Gly) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:25741868|PMID:28492532 10055711 CV198058 NM_001103.4(ACTN2):c.1748A>G (p.Glu583Gly) variant DOID:0080326 familial hypertrophic cardiomyopathy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy PMID:25741868|PMID:28492532 10055711 CV198058 NM_001103.4(ACTN2):c.1748A>G (p.Glu583Gly) variant DOID:0110307 hypertrophic cardiomyopathy 1 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:25741868|PMID:28492532 10055711 CV198058 NM_001103.4(ACTN2):c.1748A>G (p.Glu583Gly) variant DOID:0110428 dilated cardiomyopathy 1AA IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1AA PMID:25741868|PMID:28492532 10055712 CV198059 NM_001103.4(ACTN2):c.1799G>A (p.Ser600Asn) variant DOID:0080326 familial hypertrophic cardiomyopathy IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 10055712 CV198059 NM_001103.4(ACTN2):c.1799G>A (p.Ser600Asn) variant DOID:0110307 hypertrophic cardiomyopathy 1 IAGP D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:25741868|PMID:28492532 10055712 CV198059 NM_001103.4(ACTN2):c.1799G>A (p.Ser600Asn) variant DOID:0110428 dilated cardiomyopathy 1AA IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1AA PMID:25741868|PMID:28492532 10055713 CV198060 NM_001103.4(ACTN2):c.1919G>A (p.Arg640His) variant DOID:0080326 familial hypertrophic cardiomyopathy IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy PMID:25741868|PMID:28492532 10055713 CV198060 NM_001103.4(ACTN2):c.1919G>A (p.Arg640His) variant DOID:0110307 hypertrophic cardiomyopathy 1 IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:25741868|PMID:28492532 10055713 CV198060 NM_001103.4(ACTN2):c.1919G>A (p.Arg640His) variant DOID:0110428 dilated cardiomyopathy 1AA IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1AA PMID:25741868|PMID:28492532 10055714 CV198061 NM_001103.4(ACTN2):c.1985G>A (p.Arg662Gln) variant DOID:0110428 dilated cardiomyopathy 1AA IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1AA PMID:25741868|PMID:27287556|PMID:27930701|PMID:28492532 10055715 CV198062 NM_001103.4(ACTN2):c.2161C>T (p.Arg721Cys) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:25611685|PMID:25741868|PMID:28492532|PMID:33057194 10055715 CV198062 NM_001103.4(ACTN2):c.2161C>T (p.Arg721Cys) variant DOID:0080326 familial hypertrophic cardiomyopathy IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy PMID:25611685|PMID:25741868|PMID:28492532|PMID:33057194 10055715 CV198062 NM_001103.4(ACTN2):c.2161C>T (p.Arg721Cys) variant DOID:0081342 congenital myopathy 8 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: MULTIPLE STRUCTURED CORE DISEASE PMID:25611685|PMID:25741868|PMID:28492532|PMID:33057194 10055715 CV198062 NM_001103.4(ACTN2):c.2161C>T (p.Arg721Cys) variant DOID:0110307 hypertrophic cardiomyopathy 1 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:25611685|PMID:25741868|PMID:28492532|PMID:33057194 10055715 CV198062 NM_001103.4(ACTN2):c.2161C>T (p.Arg721Cys) variant DOID:0110428 dilated cardiomyopathy 1AA IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1AA PMID:25611685|PMID:25741868|PMID:28492532|PMID:33057194 10055715 CV198062 NM_001103.4(ACTN2):c.2161C>T (p.Arg721Cys) variant DOID:9004033 Distal Myopathy 6 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Myopathy, distal, 6, adult-onset, autosomal dominant PMID:25611685|PMID:25741868|PMID:28492532|PMID:33057194 10055716 CV198063 NM_001103.4(ACTN2):c.2194G>A (p.Ala732Thr) variant DOID:0080326 familial hypertrophic cardiomyopathy IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy PMID:20474083|PMID:24033266|PMID:25741868|PMID:28492532|PMID:32826072 10055716 CV198063 NM_001103.4(ACTN2):c.2194G>A (p.Ala732Thr) variant DOID:0081342 congenital myopathy 8 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: CONGENITAL MYOPATHY 8 PMID:20474083|PMID:24033266|PMID:25741868|PMID:28492532|PMID:32826072 10055716 CV198063 NM_001103.4(ACTN2):c.2194G>A (p.Ala732Thr) variant DOID:0110307 hypertrophic cardiomyopathy 1 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:20474083|PMID:24033266|PMID:25741868|PMID:28492532|PMID:32826072 10055716 CV198063 NM_001103.4(ACTN2):c.2194G>A (p.Ala732Thr) variant DOID:0110428 dilated cardiomyopathy 1AA IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1AA PMID:20474083|PMID:24033266|PMID:25741868|PMID:28492532|PMID:32826072 10055716 CV198063 NM_001103.4(ACTN2):c.2194G>A (p.Ala732Thr) variant DOID:9004033 Distal Myopathy 6 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Myopathy, distal, 6, adult-onset, autosomal dominant PMID:20474083|PMID:24033266|PMID:25741868|PMID:28492532|PMID:32826072 10055717 CV198064 NM_001103.4(ACTN2):c.2377G>A (p.Glu793Lys) variant DOID:0080326 familial hypertrophic cardiomyopathy IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy PMID:25741868|PMID:28492532 10055717 CV198064 NM_001103.4(ACTN2):c.2377G>A (p.Glu793Lys) variant DOID:0110307 hypertrophic cardiomyopathy 1 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:25741868|PMID:28492532 10055717 CV198064 NM_001103.4(ACTN2):c.2377G>A (p.Glu793Lys) variant DOID:0110428 dilated cardiomyopathy 1AA IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1AA PMID:25741868|PMID:28492532 10055718 CV198067 NM_001103.4(ACTN2):c.2567C>T (p.Pro856Leu) variant DOID:0080326 familial hypertrophic cardiomyopathy IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy PMID:25741868|PMID:28492532 10055718 CV198067 NM_001103.4(ACTN2):c.2567C>T (p.Pro856Leu) variant DOID:0081342 congenital myopathy 8 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: MULTIPLE STRUCTURED CORE DISEASE PMID:25741868|PMID:28492532 10055718 CV198067 NM_001103.4(ACTN2):c.2567C>T (p.Pro856Leu) variant DOID:0110307 hypertrophic cardiomyopathy 1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:25741868|PMID:28492532 10055718 CV198067 NM_001103.4(ACTN2):c.2567C>T (p.Pro856Leu) variant DOID:0110428 dilated cardiomyopathy 1AA IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1AA PMID:25741868|PMID:28492532 10055718 CV198067 NM_001103.4(ACTN2):c.2567C>T (p.Pro856Leu) variant DOID:9004033 Distal Myopathy 6 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myopathy, distal, 6, adult-onset, autosomal dominant PMID:25741868|PMID:28492532 10055720 CV198071 NM_001103.4(ACTN2):c.2678A>G (p.Asp893Gly) variant DOID:0080326 familial hypertrophic cardiomyopathy IAGP D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy PMID:25741868|PMID:28492532|PMID:32746448 10055720 CV198071 NM_001103.4(ACTN2):c.2678A>G (p.Asp893Gly) variant DOID:0081342 congenital myopathy 8 IAGP D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Myopathy, congenital, with structured cores and z-line abnormalities PMID:25741868|PMID:28492532|PMID:32746448 10055720 CV198071 NM_001103.4(ACTN2):c.2678A>G (p.Asp893Gly) variant DOID:0110307 hypertrophic cardiomyopathy 1 IAGP D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:25741868|PMID:28492532|PMID:32746448 10055720 CV198071 NM_001103.4(ACTN2):c.2678A>G (p.Asp893Gly) variant DOID:0110428 dilated cardiomyopathy 1AA IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1AA PMID:25741868|PMID:28492532|PMID:32746448 10055720 CV198071 NM_001103.4(ACTN2):c.2678A>G (p.Asp893Gly) variant DOID:9004033 Distal Myopathy 6 IAGP D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Myopathy, distal, 6, adult-onset, autosomal dominant PMID:25741868|PMID:28492532|PMID:32746448 10055721 CV198065 NM_001103.4(ACTN2):c.2520del (p.Asp841fs) variant DOID:9004033 Distal Myopathy 6 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Myopathy, distal, 6, adult-onset, autosomal dominant PMID:20474083|PMID:25741868 10055722 CV198045 NM_001103.4(ACTN2):c.517A>G (p.Ile173Val) variant DOID:0080326 familial hypertrophic cardiomyopathy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy PMID:28492532|PMID:30847666 10055722 CV198045 NM_001103.4(ACTN2):c.517A>G (p.Ile173Val) variant DOID:0110307 hypertrophic cardiomyopathy 1 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:28492532|PMID:30847666 10055722 CV198045 NM_001103.4(ACTN2):c.517A>G (p.Ile173Val) variant DOID:0110428 dilated cardiomyopathy 1AA IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1AA PMID:28492532|PMID:30847666 10055723 CV198069 NM_001103.4(ACTN2):c.2612G>T (p.Gly871Val) variant DOID:0080326 familial hypertrophic cardiomyopathy IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Hereditary ventricular hypertrophy PMID:28492532 10055723 CV198069 NM_001103.4(ACTN2):c.2612G>T (p.Gly871Val) variant DOID:0110307 hypertrophic cardiomyopathy 1 IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:28492532 10055723 CV198069 NM_001103.4(ACTN2):c.2612G>T (p.Gly871Val) variant DOID:0110428 dilated cardiomyopathy 1AA IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1AA PMID:28492532 10055724 CV198350 NM_014391.3(ANKRD1):c.346-19_346-18del variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:28492532 10055724 CV198350 NM_014391.3(ANKRD1):c.346-19_346-18del variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy PMID:28492532 10055724 CV198350 NM_014391.3(ANKRD1):c.346-19_346-18del variant DOID:4297 scimitar syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Total anomalous pulmonary venous return PMID:28492532 10055725 CV198349 NM_014391.3(ANKRD1):c.346-15_346-14del variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:25741868|PMID:28492532 10055725 CV198349 NM_014391.3(ANKRD1):c.346-15_346-14del variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:28492532 10055725 CV198349 NM_014391.3(ANKRD1):c.346-15_346-14del variant DOID:4297 scimitar syndrome IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: TOTAL ANOMALOUS PULMONARY VENOUS RETURN 1 PMID:25741868|PMID:28492532 10055726 CV198347 NM_014391.3(ANKRD1):c.346-14_346-9del variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:28492532 10055726 CV198347 NM_014391.3(ANKRD1):c.346-14_346-9del variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy PMID:28492532 10055728 CV198346 NM_014391.3(ANKRD1):c.369G>A (p.Thr123=) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy PMID:28492532 10055730 CV198340 NM_014391.3(ANKRD1):c.652-13del variant DOID:0110308 hypertrophic cardiomyopathy 2 IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 2 PMID:19608031|PMID:25741868|PMID:28492532 10055730 CV198340 NM_014391.3(ANKRD1):c.652-13del variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant PMID:19608031|PMID:25741868|PMID:28492532 10055731 CV198353 NM_014391.3(ANKRD1):c.-34C>T variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868 10055732 CV198352 NM_014391.3(ANKRD1):c.180G>A (p.Trp60Ter) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy PMID:28492532 10055733 CV198337 NM_014391.3(ANKRD1):c.849+2dup variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy PMID:17576681|PMID:28492532|PMID:9536098 10055734 CV198343 NM_014391.3(ANKRD1):c.553C>G (p.Leu185Val) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy PMID:28492532 10055735 CV198339 NM_014391.3(ANKRD1):c.697G>C (p.Glu233Gln) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy PMID:27532257|PMID:28492532 10055736 CV198336 NM_014391.3(ANKRD1):c.860C>T (p.Thr287Met) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy PMID:28492532 10055737 CV198335 NM_014391.3(ANKRD1):c.881A>G (p.His294Arg) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:28492532 10055738 CV198334 NM_014391.3(ANKRD1):c.944G>A (p.Arg315His) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy PMID:28492532 10055739 CV198351 NM_014391.3(ANKRD1):c.222dup (p.Leu75fs) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532|PMID:28794111|PMID:29447731|PMID:30847666|PMID:33996946 10055742 CV198345 NM_014391.3(ANKRD1):c.449A>T (p.Asp150Val) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy PMID:24033266|PMID:28492532|PMID:31983221 10055743 CV198342 NM_014391.3(ANKRD1):c.625G>C (p.Gly209Arg) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy PMID:28492532 10055744 CV198233 NM_004281.4(BAG3):c.855G>A (p.Thr285=) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:25741868|PMID:28492532 10055744 CV198233 NM_004281.4(BAG3):c.855G>A (p.Thr285=) variant DOID:0080097 myofibrillar myopathy 6 IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 6 PMID:25741868|PMID:28492532 10055744 CV198233 NM_004281.4(BAG3):c.855G>A (p.Thr285=) variant DOID:0110448 dilated cardiomyopathy 1HH IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1HH PMID:25741868|PMID:28492532 10055747 CV198357 NM_003476.5(CSRP3):c.508+18C>T variant DOID:0110318 hypertrophic cardiomyopathy 12 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 PMID:25741868|PMID:28492532 10055747 CV198357 NM_003476.5(CSRP3):c.508+18C>T variant DOID:0110449 dilated cardiomyopathy 1M IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1M PMID:25741868|PMID:28492532 10055749 CV198362 NM_003476.5(CSRP3):c.86G>A (p.Ser29Asn) variant DOID:0110318 hypertrophic cardiomyopathy 12 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 PMID:25741868|PMID:28492532 10055749 CV198362 NM_003476.5(CSRP3):c.86G>A (p.Ser29Asn) variant DOID:0110449 dilated cardiomyopathy 1M IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1M PMID:25741868|PMID:28492532 10055750 CV198361 NM_003476.5(CSRP3):c.116C>A (p.Ala39Asp) variant DOID:0110318 hypertrophic cardiomyopathy 12 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 12 PMID:28492532 10055750 CV198361 NM_003476.5(CSRP3):c.116C>A (p.Ala39Asp) variant DOID:0110449 dilated cardiomyopathy 1M IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1M PMID:28492532 10055751 CV198360 NM_003476.5(CSRP3):c.229G>T (p.Ala77Ser) variant DOID:0110318 hypertrophic cardiomyopathy 12 IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 12 PMID:28492532 10055751 CV198360 NM_003476.5(CSRP3):c.229G>T (p.Ala77Ser) variant DOID:0110449 dilated cardiomyopathy 1M IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1M PMID:28492532 10055752 CV198355 NM_003476.5(CSRP3):c.544G>C (p.Gly182Arg) variant DOID:0110318 hypertrophic cardiomyopathy 12 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12 PMID:25741868|PMID:28492532 10055752 CV198355 NM_003476.5(CSRP3):c.544G>C (p.Gly182Arg) variant DOID:0110449 dilated cardiomyopathy 1M IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1M PMID:25741868|PMID:28492532 10055754 CV198120 NM_001927.4(DES):c.640-16G>A variant DOID:0080092 myofibrillar myopathy 1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy PMID:25741868|PMID:28492532 10055754 CV198120 NM_001927.4(DES):c.640-16G>A variant DOID:0110431 dilated cardiomyopathy 1I IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1I PMID:25741868|PMID:28492532 10055755 CV198108 NM_001927.4(DES):c.-44G>A variant DOID:0080092 myofibrillar myopathy 1 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: DESMIN-RELATED MYOPATHY WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 10055755 CV198108 NM_001927.4(DES):c.-44G>A variant DOID:0080307 myofibrillar myopathy IAGP D RGD:8554872 20191008 ClinVar ClinVar Annotator: match by term: Myofibrillar Myopathy, Dominant 10055755 CV198108 NM_001927.4(DES):c.-44G>A variant DOID:0110431 dilated cardiomyopathy 1I IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1I 10055755 CV198108 NM_001927.4(DES):c.-44G>A variant DOID:0111551 neurogenic scapuloperoneal syndrome Kaeser type IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Neurogenic scapuloperoneal syndrome, Kaeser type 10055757 CV198513 NM_001386795.1(DTNA):c.1088T>C (p.Leu363Ser) variant DOID:9007288 Left Ventricular Noncompaction 1 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 1 PMID:25741868 10055758 CV198515 NM_001386795.1(DTNA):c.1454G>C (p.Ser485Thr) variant DOID:0061184 myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2 IAGP D RGD:8554872 20250902 ClinVar ClinVar Annotator: match by term: DTNA-related disorder PMID:28492532 10055758 CV198515 NM_001386795.1(DTNA):c.1454G>C (p.Ser485Thr) variant DOID:9007288 Left Ventricular Noncompaction 1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 1 PMID:28492532 10055759 CV198518 NM_001386795.1(DTNA):c.*2600C>T variant DOID:0061184 myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2 IAGP D RGD:8554872 20250902 ClinVar ClinVar Annotator: match by term: DTNA-related disorder PMID:25741868 10055759 CV198518 NM_001386795.1(DTNA):c.*2600C>T variant DOID:9007288 Left Ventricular Noncompaction 1 IAGP D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 1 PMID:25741868 10055761 CV198510 NM_001386795.1(DTNA):c.614C>T (p.Thr205Met) variant DOID:0061184 myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2 IAGP D RGD:8554872 20250902 ClinVar ClinVar Annotator: match by term: DTNA-related disorder PMID:25741868|PMID:28492532 10055761 CV198510 NM_001386795.1(DTNA):c.614C>T (p.Thr205Met) variant DOID:9007288 Left Ventricular Noncompaction 1 IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 1 PMID:25741868|PMID:28492532 10055762 CV198512 NM_001386795.1(DTNA):c.784C>T (p.His262Tyr) variant DOID:9007288 Left Ventricular Noncompaction 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 1 PMID:28492532|PMID:32746448|PMID:33500567 10055764 CV198516 NM_001386795.1(DTNA):c.2101C>T (p.His701Tyr) variant DOID:9007288 Left Ventricular Noncompaction 1 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 1 PMID:28492532 10055766 CV198511 NM_001386795.1(DTNA):c.646G>T (p.Asp216Tyr) variant DOID:9007288 Left Ventricular Noncompaction 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 1 PMID:28492532 10055767 CV198546 NM_000117.3(EMD):c.466G>A (p.Gly156Ser) variant DOID:0070246 X-linked Emery-Dreifuss muscular dystrophy 1 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 1, X-linked PMID:28492532 10055767 CV198546 NM_000117.3(EMD):c.466G>A (p.Gly156Ser) variant DOID:11726 Emery-Dreifuss muscular dystrophy IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:28492532 10055768 CV198543 NM_000117.3(EMD):c.187+1G>T variant DOID:11726 Emery-Dreifuss muscular dystrophy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10382909|PMID:16199547|PMID:24365856|PMID:25741868|PMID:26247046|PMID:28492532 10055769 CV198545 NM_000117.3(EMD):c.449+5G>A variant DOID:0070246 X-linked Emery-Dreifuss muscular dystrophy 1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, tardive Emery-Dreifuss type, with contractures PMID:25741868|PMID:28492532 10055769 CV198545 NM_000117.3(EMD):c.449+5G>A variant DOID:11726 Emery-Dreifuss muscular dystrophy IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:25741868|PMID:28492532 10055771 CV198549 NM_000117.3(EMD):c.608G>A (p.Arg203His) variant DOID:0070246 X-linked Emery-Dreifuss muscular dystrophy 1 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures PMID:28492532|PMID:29349559 10055771 CV198549 NM_000117.3(EMD):c.608G>A (p.Arg203His) variant DOID:11726 Emery-Dreifuss muscular dystrophy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:28492532|PMID:29349559 10055772 CV198550 NM_000117.3(EMD):c.610C>T (p.Arg204Cys) variant DOID:0070246 X-linked Emery-Dreifuss muscular dystrophy 1 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 1, X-linked PMID:25741868|PMID:28492532 10055772 CV198550 NM_000117.3(EMD):c.610C>T (p.Arg204Cys) variant DOID:11726 Emery-Dreifuss muscular dystrophy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:25741868|PMID:28492532 10055773 CV198551 NM_000117.3(EMD):c.671C>T (p.Pro224Leu) variant DOID:0070246 X-linked Emery-Dreifuss muscular dystrophy 1 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 1, X-linked PMID:25741868|PMID:28492532 10055773 CV198551 NM_000117.3(EMD):c.671C>T (p.Pro224Leu) variant DOID:11726 Emery-Dreifuss muscular dystrophy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:25741868|PMID:28492532 10055774 CV198539 NM_000117.3(EMD):c.20T>A (p.Leu7His) variant DOID:11726 Emery-Dreifuss muscular dystrophy IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:28492532 10055775 CV198540 NM_000117.3(EMD):c.65C>T (p.Pro22Leu) variant DOID:11726 Emery-Dreifuss muscular dystrophy IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:28492532 10055776 CV198541 NM_000117.3(EMD):c.103G>A (p.Glu35Lys) variant DOID:0070246 X-linked Emery-Dreifuss muscular dystrophy 1 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 1, X-linked PMID:25741868|PMID:28492532|PMID:31024910 10055776 CV198541 NM_000117.3(EMD):c.103G>A (p.Glu35Lys) variant DOID:11726 Emery-Dreifuss muscular dystrophy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:25741868|PMID:28492532|PMID:31024910 10055777 CV198547 NM_000117.3(EMD):c.545_547del (p.Tyr182_Pro183delinsSer) variant DOID:11726 Emery-Dreifuss muscular dystrophy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:10323252|PMID:10393813|PMID:17067998|PMID:26415001|PMID:26675233|PMID:28492532 10055778 CV198542 NM_000117.3(EMD):c.115_117del (p.Phe39del) variant DOID:11726 Emery-Dreifuss muscular dystrophy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:28492532 10055779 CV198544 NM_000117.3(EMD):c.215A>T (p.Asp72Val) variant DOID:0070246 X-linked Emery-Dreifuss muscular dystrophy 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 1, X-linked PMID:12872622|PMID:21496632|PMID:28492532|PMID:31185657 10055779 CV198544 NM_000117.3(EMD):c.215A>T (p.Asp72Val) variant DOID:11726 Emery-Dreifuss muscular dystrophy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy PMID:12872622|PMID:21496632|PMID:28492532|PMID:31185657 10055780 CV198184 NM_021167.5(GATAD1):c.613A>G (p.Ile205Val) variant DOID:0110441 dilated cardiomyopathy 2B IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 2B PMID:28492532 10055781 CV198366 NM_004517.4(ILK):c.435A>C (p.Arg145Ser) variant DOID:0080326 familial hypertrophic cardiomyopathy IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:28492532 10055781 CV198366 NM_004517.4(ILK):c.435A>C (p.Arg145Ser) variant DOID:0110307 hypertrophic cardiomyopathy 1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:28492532 10055782 CV198367 NM_004517.4(ILK):c.448+12del variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Cardiomyopathy 10055784 CV198363 NM_004517.4(ILK):c.65A>G (p.Asn22Ser) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 10055784 CV198363 NM_004517.4(ILK):c.65A>G (p.Asn22Ser) variant DOID:0080326 familial hypertrophic cardiomyopathy IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 10055784 CV198363 NM_004517.4(ILK):c.65A>G (p.Asn22Ser) variant DOID:0110307 hypertrophic cardiomyopathy 1 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:24033266|PMID:25741868|PMID:28492532 10055785 CV198364 NM_004517.4(ILK):c.175C>T (p.Arg59Trp) variant DOID:0080326 familial hypertrophic cardiomyopathy IAGP D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:28492532 10055786 CV198365 NM_004517.4(ILK):c.184G>A (p.Val62Ile) variant DOID:0080326 familial hypertrophic cardiomyopathy IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:28492532|PMID:34935411 10055787 CV198368 NM_004517.4(ILK):c.669G>T (p.Lys223Asn) variant DOID:0080326 familial hypertrophic cardiomyopathy IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:28492532 10055788 CV198538 NM_020433.5(JPH2):c.128A>G (p.Asn43Ser) variant DOID:0110323 hypertrophic cardiomyopathy 17 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: JPH2-related condition PMID:25741868|PMID:28492532 10055788 CV198538 NM_020433.5(JPH2):c.128A>G (p.Asn43Ser) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 10055789 CV198527 NM_020433.5(JPH2):c.1729G>A (p.Glu577Lys) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 10055790 CV198537 NM_020433.5(JPH2):c.385T>G (p.Tyr129Asp) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 10055791 CV198536 NM_020433.5(JPH2):c.458T>C (p.Val153Ala) variant DOID:0110323 hypertrophic cardiomyopathy 17 IAGP D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 17 PMID:25741868|PMID:28492532 10055791 CV198536 NM_020433.5(JPH2):c.458T>C (p.Val153Ala) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 10055792 CV198535 NM_020433.5(JPH2):c.572C>G (p.Pro191Arg) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 10055793 CV198534 NM_020433.5(JPH2):c.637C>T (p.Arg213Trp) variant DOID:0081161 dilated cardiomyopathy 2E IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2E PMID:24033266|PMID:25741868|PMID:28492532 10055793 CV198534 NM_020433.5(JPH2):c.637C>T (p.Arg213Trp) variant DOID:0110323 hypertrophic cardiomyopathy 17 IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 17 PMID:24033266|PMID:25741868|PMID:28492532 10055793 CV198534 NM_020433.5(JPH2):c.637C>T (p.Arg213Trp) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 10055794 CV198533 NM_020433.5(JPH2):c.661T>C (p.Phe221Leu) variant DOID:0110323 hypertrophic cardiomyopathy 17 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 17 PMID:24033266|PMID:25741868|PMID:28492532 10055794 CV198533 NM_020433.5(JPH2):c.661T>C (p.Phe221Leu) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 10055795 CV198532 NM_020433.5(JPH2):c.856A>G (p.Thr286Ala) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:22584458|PMID:23834499|PMID:24033266|PMID:25741868|PMID:28492532 10055795 CV198532 NM_020433.5(JPH2):c.856A>G (p.Thr286Ala) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:22584458|PMID:23834499|PMID:24033266|PMID:25741868|PMID:28492532 10055795 CV198532 NM_020433.5(JPH2):c.856A>G (p.Thr286Ala) variant DOID:9000006 Supraventricular Tachycardia IAGP D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Supraventricular tachycardia PMID:22584458|PMID:23834499|PMID:24033266|PMID:25741868|PMID:28492532 10055798 CV198528 NM_020433.5(JPH2):c.1582G>A (p.Glu528Lys) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 10055799 CV198529 NM_020433.5(JPH2):c.1424G>A (p.Arg475His) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10055799 CV198529 NM_020433.5(JPH2):c.1424G>A (p.Arg475His) variant DOID:0110323 hypertrophic cardiomyopathy 17 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: JPH2-related condition PMID:25741868|PMID:28492532 10055799 CV198529 NM_020433.5(JPH2):c.1424G>A (p.Arg475His) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 10055800 CV198526 NM_020433.5(JPH2):c.1896G>C (p.Glu632Asp) variant DOID:0081161 dilated cardiomyopathy 2E IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2E PMID:25741868|PMID:28492532 10055800 CV198526 NM_020433.5(JPH2):c.1896G>C (p.Glu632Asp) variant DOID:0110323 hypertrophic cardiomyopathy 17 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 17 PMID:25741868|PMID:28492532 10055800 CV198526 NM_020433.5(JPH2):c.1896G>C (p.Glu632Asp) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 10055801 CV198481 NM_002230.4(JUP):c.2122G>A (p.Asp708Asn) variant DOID:0080551 Naxos disease IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Naxos disease PMID:28492532 10055801 CV198481 NM_002230.4(JUP):c.2122G>A (p.Asp708Asn) variant DOID:0110083 arrhythmogenic right ventricular dysplasia 12 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 12 PMID:28492532 10055802 CV198509 NM_002230.4(JUP):c.71C>T (p.Ser24Leu) variant DOID:0080551 Naxos disease IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Naxos disease PMID:25741868|PMID:28492532 10055803 CV198508 NM_002230.4(JUP):c.100G>A (p.Val34Met) variant DOID:0080551 Naxos disease IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Naxos disease PMID:28492532 10055803 CV198508 NM_002230.4(JUP):c.100G>A (p.Val34Met) variant DOID:0110083 arrhythmogenic right ventricular dysplasia 12 IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12 PMID:28492532 10055805 CV198506 NM_002230.4(JUP):c.286G>A (p.Glu96Lys) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10055805 CV198506 NM_002230.4(JUP):c.286G>A (p.Glu96Lys) variant DOID:0080551 Naxos disease IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Naxos disease PMID:25741868|PMID:28492532 10055806 CV198505 NM_002230.4(JUP):c.406G>C (p.Asp136His) variant DOID:0080551 Naxos disease IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Naxos disease PMID:28492532 10055806 CV198505 NM_002230.4(JUP):c.406G>C (p.Asp136His) variant DOID:0110083 arrhythmogenic right ventricular dysplasia 12 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 12 PMID:28492532 10055807 CV198504 NM_002230.4(JUP):c.427G>A (p.Ala143Thr) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:20525856|PMID:23299917|PMID:24033266|PMID:25445213|PMID:25741868|PMID:27005929|PMID:28492532 10055807 CV198504 NM_002230.4(JUP):c.427G>A (p.Ala143Thr) variant DOID:0080551 Naxos disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Naxos disease PMID:20525856|PMID:23299917|PMID:24033266|PMID:25445213|PMID:25741868|PMID:27005929|PMID:28492532 10055807 CV198504 NM_002230.4(JUP):c.427G>A (p.Ala143Thr) variant DOID:0110083 arrhythmogenic right ventricular dysplasia 12 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 12 PMID:20525856|PMID:23299917|PMID:24033266|PMID:25445213|PMID:25741868|PMID:27005929|PMID:28492532 10055808 CV198503 NM_002230.4(JUP):c.509C>T (p.Ser170Leu) variant DOID:0080551 Naxos disease IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Naxos disease PMID:25741868|PMID:28492532|PMID:31983221 10055808 CV198503 NM_002230.4(JUP):c.509C>T (p.Ser170Leu) variant DOID:0110083 arrhythmogenic right ventricular dysplasia 12 IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 12 PMID:25741868|PMID:28492532|PMID:31983221 10055809 CV198502 NM_002230.4(JUP):c.529C>T (p.Arg177Trp) variant DOID:0080551 Naxos disease IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Naxos disease PMID:25741868|PMID:27532257|PMID:28492532|PMID:31983221 10055809 CV198502 NM_002230.4(JUP):c.529C>T (p.Arg177Trp) variant DOID:0110083 arrhythmogenic right ventricular dysplasia 12 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 12 PMID:25741868|PMID:27532257|PMID:28492532|PMID:31983221 10055810 CV198501 NM_002230.4(JUP):c.568G>A (p.Val190Met) variant DOID:0080551 Naxos disease IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Naxos disease PMID:25741868|PMID:28492532 10055810 CV198501 NM_002230.4(JUP):c.568G>A (p.Val190Met) variant DOID:0110083 arrhythmogenic right ventricular dysplasia 12 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12 PMID:25741868|PMID:28492532 10055814 CV198496 NM_002230.4(JUP):c.809T>A (p.Leu270Gln) variant DOID:0080551 Naxos disease IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Naxos disease PMID:16722579|PMID:25741868|PMID:28492532 10055814 CV198496 NM_002230.4(JUP):c.809T>A (p.Leu270Gln) variant DOID:0110083 arrhythmogenic right ventricular dysplasia 12 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 12 PMID:16722579|PMID:25741868|PMID:28492532 10055815 CV198493 NM_002230.4(JUP):c.892G>A (p.Gly298Ser) variant DOID:0080551 Naxos disease IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Naxos disease PMID:25741868|PMID:28492532 10055815 CV198493 NM_002230.4(JUP):c.892G>A (p.Gly298Ser) variant DOID:0110083 arrhythmogenic right ventricular dysplasia 12 IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 12 PMID:25741868|PMID:28492532 10055816 CV198491 NM_002230.4(JUP):c.989C>A (p.Thr330Asn) variant DOID:0080551 Naxos disease IAGP D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Naxos disease PMID:28492532 10055816 CV198491 NM_002230.4(JUP):c.989C>A (p.Thr330Asn) variant DOID:0110083 arrhythmogenic right ventricular dysplasia 12 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12 PMID:28492532 10055817 CV198490 NM_002230.4(JUP):c.1099C>G (p.Arg367Gly) variant DOID:0080551 Naxos disease IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Naxos disease PMID:25741868|PMID:28492532 10055817 CV198490 NM_002230.4(JUP):c.1099C>G (p.Arg367Gly) variant DOID:0110083 arrhythmogenic right ventricular dysplasia 12 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12 PMID:25741868|PMID:28492532 10055818 CV198489 NM_002230.4(JUP):c.1130G>A (p.Arg377His) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:25765472|PMID:28492532 10055818 CV198489 NM_002230.4(JUP):c.1130G>A (p.Arg377His) variant DOID:0080551 Naxos disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Naxos disease PMID:25741868|PMID:25765472|PMID:28492532 10055818 CV198489 NM_002230.4(JUP):c.1130G>A (p.Arg377His) variant DOID:0110083 arrhythmogenic right ventricular dysplasia 12 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 12 PMID:25741868|PMID:25765472|PMID:28492532 10055819 CV198488 NM_002230.4(JUP):c.1354A>T (p.Thr452Ser) variant DOID:0080551 Naxos disease IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Naxos disease PMID:25741868|PMID:28492532 10055819 CV198488 NM_002230.4(JUP):c.1354A>T (p.Thr452Ser) variant DOID:0110083 arrhythmogenic right ventricular dysplasia 12 IAGP D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 12 PMID:25741868|PMID:28492532 10055820 CV198487 NM_002230.4(JUP):c.1355C>T (p.Thr452Met) variant DOID:0080551 Naxos disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Naxos disease PMID:25741868|PMID:28492532|PMID:30453078 10055821 CV198486 NM_002230.4(JUP):c.1582G>A (p.Val528Ile) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532|PMID:30847666 10055821 CV198486 NM_002230.4(JUP):c.1582G>A (p.Val528Ile) variant DOID:0080551 Naxos disease IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Naxos disease PMID:24033266|PMID:25741868|PMID:28492532|PMID:30847666 10055821 CV198486 NM_002230.4(JUP):c.1582G>A (p.Val528Ile) variant DOID:0110083 arrhythmogenic right ventricular dysplasia 12 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 12 PMID:24033266|PMID:25741868|PMID:28492532|PMID:30847666 10055822 CV198485 NM_002230.4(JUP):c.1702C>T (p.His568Tyr) variant DOID:0080551 Naxos disease IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Naxos disease PMID:28492532 10055823 CV198484 NM_002230.4(JUP):c.1705A>T (p.Ile569Phe) variant DOID:0080551 Naxos disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Naxos disease PMID:28492532 10055823 CV198484 NM_002230.4(JUP):c.1705A>T (p.Ile569Phe) variant DOID:0110083 arrhythmogenic right ventricular dysplasia 12 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12 PMID:28492532 10055824 CV198483 NM_002230.4(JUP):c.1876G>A (p.Ala626Thr) variant DOID:0080551 Naxos disease IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Naxos disease PMID:28492532 10055824 CV198483 NM_002230.4(JUP):c.1876G>A (p.Ala626Thr) variant DOID:0110083 arrhythmogenic right ventricular dysplasia 12 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 12 PMID:28492532 10055825 CV198482 NM_002230.4(JUP):c.1880C>T (p.Ser627Leu) variant DOID:0080551 Naxos disease IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Naxos disease PMID:28492532 10055825 CV198482 NM_002230.4(JUP):c.1880C>T (p.Ser627Leu) variant DOID:0110083 arrhythmogenic right ventricular dysplasia 12 IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12 PMID:28492532 10055826 CV198498 NM_002230.4(JUP):c.773A>G (p.Glu258Gly) variant DOID:384 Wolff-Parkinson-White syndrome IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern PMID:32233023 10055827 CV198495 NM_002230.4(JUP):c.818T>C (p.Met273Thr) variant DOID:0080551 Naxos disease IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Naxos disease PMID:28492532 10055827 CV198495 NM_002230.4(JUP):c.818T>C (p.Met273Thr) variant DOID:0110083 arrhythmogenic right ventricular dysplasia 12 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12 PMID:28492532 10055828 CV198494 NM_002230.4(JUP):c.849G>T (p.Lys283Asn) variant DOID:0080551 Naxos disease IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Naxos disease PMID:25741868|PMID:28492532 10055828 CV198494 NM_002230.4(JUP):c.849G>T (p.Lys283Asn) variant DOID:0110083 arrhythmogenic right ventricular dysplasia 12 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 12 PMID:25741868|PMID:28492532 10055829 CV198492 NM_002230.4(JUP):c.958C>T (p.Arg320Cys) variant DOID:0080551 Naxos disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Naxos disease PMID:25741868|PMID:27707468|PMID:28492532|PMID:31275992 10055829 CV198492 NM_002230.4(JUP):c.958C>T (p.Arg320Cys) variant DOID:0110083 arrhythmogenic right ventricular dysplasia 12 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 12 PMID:25741868|PMID:27707468|PMID:28492532|PMID:31275992 10055830 CV198319 NM_007078.3(LDB3):c.859+14C>G variant DOID:0080095 myofibrillar myopathy 4 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 4 PMID:28492532 10055831 CV198325 NM_007078.3(LDB3):c.1231+19G>A variant DOID:0080095 myofibrillar myopathy 4 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Myofibrillar myopathy 4 PMID:25741868|PMID:28492532 10055831 CV198325 NM_007078.3(LDB3):c.1231+19G>A variant DOID:0110423 dilated cardiomyopathy 1C IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1C PMID:25741868|PMID:28492532 10055832 CV198520 NM_033118.4(MYLK2):c.281C>T (p.Pro94Leu) variant DOID:0110307 hypertrophic cardiomyopathy 1 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 PMID:24033266|PMID:28492532 10055834 CV198525 NM_033118.4(MYLK2):c.1657C>T (p.Arg553Cys) variant DOID:0110307 hypertrophic cardiomyopathy 1 IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 PMID:28492532 10055835 CV198522 NM_033118.4(MYLK2):c.331C>T (p.Pro111Ser) variant DOID:0110307 hypertrophic cardiomyopathy 1 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 PMID:25741868|PMID:28492532 10055837 CV198524 NM_033118.4(MYLK2):c.1204G>T (p.Val402Phe) variant DOID:0110307 hypertrophic cardiomyopathy 1 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 PMID:28492532 10055838 CV198256 NM_032578.4(MYPN):c.112T>A (p.Ser38Thr) variant DOID:0110445 dilated cardiomyopathy 1KK IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1KK PMID:25741868|PMID:28492532 10055840 CV198266 NM_032578.4(MYPN):c.1246-19G>A variant DOID:0110445 dilated cardiomyopathy 1KK IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1KK PMID:28492532 10055841 CV198272 NM_032578.4(MYPN):c.2236A>G (p.Thr746Ala) variant DOID:0110445 dilated cardiomyopathy 1KK IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1KK PMID:24033266|PMID:25741868|PMID:28492532 10055842 CV198274 NM_032578.4(MYPN):c.3122T>A (p.Ile1041Asn) variant DOID:0110445 dilated cardiomyopathy 1KK IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1KK PMID:28492532 10055843 CV198279 NM_032578.4(MYPN):c.3493+11C>T variant DOID:0110445 dilated cardiomyopathy 1KK IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1KK PMID:25741868|PMID:28492532 10055844 CV198281 NM_032578.4(MYPN):c.3493+14del variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Cardiomyopathy 10055846 CV198282 NM_032578.4(MYPN):c.3493+15_3493+20del variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:28492532 10055846 CV198282 NM_032578.4(MYPN):c.3493+15_3493+20del variant DOID:0110445 dilated cardiomyopathy 1KK IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1KK PMID:28492532 10055851 CV198261 NM_032578.4(MYPN):c.782A>G (p.Tyr261Cys) variant DOID:0110445 dilated cardiomyopathy 1KK IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1KK PMID:28492532 10055852 CV198262 NM_032578.4(MYPN):c.845A>G (p.Glu282Gly) variant DOID:0110445 dilated cardiomyopathy 1KK IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1KK PMID:25741868|PMID:28492532 10055852 CV198262 NM_032578.4(MYPN):c.845A>G (p.Glu282Gly) variant DOID:0110933 nemaline myopathy 11 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 11, autosomal recessive PMID:25741868|PMID:28492532 10055853 CV198264 NM_032578.4(MYPN):c.1012C>T (p.Arg338Cys) variant DOID:0110445 dilated cardiomyopathy 1KK IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1KK PMID:25741868|PMID:28492532|PMID:29447731|PMID:30847666|PMID:31110529|PMID:33297573 10055853 CV198264 NM_032578.4(MYPN):c.1012C>T (p.Arg338Cys) variant DOID:0110933 nemaline myopathy 11 IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 11, autosomal recessive PMID:25741868|PMID:28492532|PMID:29447731|PMID:30847666|PMID:31110529|PMID:33297573 10055853 CV198264 NM_032578.4(MYPN):c.1012C>T (p.Arg338Cys) variant DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:25741868|PMID:28492532|PMID:29447731|PMID:30847666|PMID:31110529|PMID:33297573 10055853 CV198264 NM_032578.4(MYPN):c.1012C>T (p.Arg338Cys) variant DOID:9004616 Left Ventricular Hypertrophy IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Left ventricular hypertrophy PMID:25741868|PMID:28492532|PMID:29447731|PMID:30847666|PMID:31110529|PMID:33297573 10055854 CV198265 NM_032578.4(MYPN):c.1105G>A (p.Asp369Asn) variant DOID:0110445 dilated cardiomyopathy 1KK IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1KK PMID:25741868|PMID:28492532 10055854 CV198265 NM_032578.4(MYPN):c.1105G>A (p.Asp369Asn) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 10055855 CV198267 NM_032578.4(MYPN):c.1594G>A (p.Val532Met) variant DOID:0110445 dilated cardiomyopathy 1KK IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1KK PMID:25741868|PMID:28492532|PMID:28798025|PMID:34935411 10055856 CV198268 NM_032578.4(MYPN):c.1888G>A (p.Glu630Lys) variant DOID:0110445 dilated cardiomyopathy 1KK IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1KK PMID:25741868|PMID:26458567|PMID:28492532 10055857 CV198269 NM_032578.4(MYPN):c.2168C>T (p.Pro723Leu) variant DOID:0110445 dilated cardiomyopathy 1KK IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1KK PMID:28492532 10055860 CV198275 NM_032578.4(MYPN):c.3131G>A (p.Arg1044Gln) variant DOID:0110445 dilated cardiomyopathy 1KK IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1KK PMID:25741868|PMID:28492532 10055860 CV198275 NM_032578.4(MYPN):c.3131G>A (p.Arg1044Gln) variant DOID:0110933 nemaline myopathy 11 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 11, autosomal recessive PMID:25741868|PMID:28492532 10055861 CV198276 NM_032578.4(MYPN):c.3206G>A (p.Arg1069His) variant DOID:0110445 dilated cardiomyopathy 1KK IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1KK PMID:25741868|PMID:28492532 10055861 CV198276 NM_032578.4(MYPN):c.3206G>A (p.Arg1069His) variant DOID:0110933 nemaline myopathy 11 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 11, autosomal recessive PMID:25741868|PMID:28492532 10055863 CV198278 NM_032578.4(MYPN):c.3394C>T (p.Leu1132Phe) variant DOID:0110445 dilated cardiomyopathy 1KK IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1KK PMID:28492532 10055864 CV198283 NM_032578.4(MYPN):c.3793G>A (p.Ala1265Thr) variant DOID:0110445 dilated cardiomyopathy 1KK IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1KK PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 10055864 CV198283 NM_032578.4(MYPN):c.3793G>A (p.Ala1265Thr) variant DOID:0110933 nemaline myopathy 11 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Nemaline myopathy 11, autosomal recessive PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 10055865 CV198259 NM_032578.4(MYPN):c.611A>G (p.Glu204Gly) variant DOID:0110445 dilated cardiomyopathy 1KK IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1KK PMID:25741868|PMID:28492532 10055866 CV198271 NM_032578.4(MYPN):c.2228C>T (p.Pro743Leu) variant DOID:0110445 dilated cardiomyopathy 1KK IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1KK PMID:24033266|PMID:28492532 10055869 CV198251 NM_006393.3(NEBL):c.614A>G (p.Asn205Ser) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28492532 10055870 CV198242 NM_006393.3(NEBL):c.2307T>C (p.Ala769=) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28492532 10055871 CV198252 NM_006393.3(NEBL):c.326T>C (p.Ile109Thr) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28492532 10055872 CV198249 NM_006393.3(NEBL):c.1316G>A (p.Arg439Gln) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28492532 10055873 CV198247 NM_006393.3(NEBL):c.1608G>T (p.Met536Ile) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28492532 10055874 CV198246 NM_006393.3(NEBL):c.1639C>T (p.Arg547Ter) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28492532|PMID:29544605 10055875 CV198245 NM_006393.3(NEBL):c.1838G>A (p.Arg613Gln) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28492532 10055878 CV198250 NM_006393.3(NEBL):c.1225G>A (p.Glu409Lys) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28492532 10055879 CV198248 NM_006393.3(NEBL):c.1540G>T (p.Ala514Ser) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28492532 10055880 CV198244 NM_006393.3(NEBL):c.2101C>A (p.Pro701Thr) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28492532 10055881 CV198241 NM_006393.3(NEBL):c.2644C>T (p.Arg882Ter) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28492532|PMID:36303204 10055884 CV198081 NM_144573.4(NEXN):c.687+23del variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:28492532 10055884 CV198081 NM_144573.4(NEXN):c.687+23del variant DOID:0110424 dilated cardiomyopathy 1CC IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1CC PMID:28492532 10055886 CV198075 NM_144573.4(NEXN):c.242A>T (p.Asp81Val) variant DOID:0110326 hypertrophic cardiomyopathy 20 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 20 PMID:24033266|PMID:25741868|PMID:28492532 10055886 CV198075 NM_144573.4(NEXN):c.242A>T (p.Asp81Val) variant DOID:0110424 dilated cardiomyopathy 1CC IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1CC PMID:24033266|PMID:25741868|PMID:28492532 10055886 CV198075 NM_144573.4(NEXN):c.242A>T (p.Asp81Val) variant DOID:9004616 Left Ventricular Hypertrophy IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Left ventricular hypertrophy PMID:24033266|PMID:25741868|PMID:28492532 10055888 CV198078 NM_144573.4(NEXN):c.512T>C (p.Ile171Thr) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 10055888 CV198078 NM_144573.4(NEXN):c.512T>C (p.Ile171Thr) variant DOID:0110326 hypertrophic cardiomyopathy 20 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 20 PMID:24033266|PMID:25741868|PMID:28492532 10055888 CV198078 NM_144573.4(NEXN):c.512T>C (p.Ile171Thr) variant DOID:0110424 dilated cardiomyopathy 1CC IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1CC PMID:24033266|PMID:25741868|PMID:28492532 10055890 CV198082 NM_144573.4(NEXN):c.856C>T (p.Arg286Trp) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532|PMID:28798025 10055890 CV198082 NM_144573.4(NEXN):c.856C>T (p.Arg286Trp) variant DOID:0080326 familial hypertrophic cardiomyopathy IAGP D RGD:8554872 20200410 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:25741868|PMID:28492532|PMID:28798025 10055890 CV198082 NM_144573.4(NEXN):c.856C>T (p.Arg286Trp) variant DOID:0110307 hypertrophic cardiomyopathy 1 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:25741868|PMID:28492532|PMID:28798025 10055890 CV198082 NM_144573.4(NEXN):c.856C>T (p.Arg286Trp) variant DOID:0110326 hypertrophic cardiomyopathy 20 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 20 PMID:25741868|PMID:28492532|PMID:28798025 10055890 CV198082 NM_144573.4(NEXN):c.856C>T (p.Arg286Trp) variant DOID:0110424 dilated cardiomyopathy 1CC IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1CC PMID:25741868|PMID:28492532|PMID:28798025 10055891 CV198085 NM_144573.4(NEXN):c.1010T>C (p.Ile337Thr) variant DOID:0110326 hypertrophic cardiomyopathy 20 IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 20 PMID:25741868|PMID:28492532|PMID:29247119|PMID:30847666 10055891 CV198085 NM_144573.4(NEXN):c.1010T>C (p.Ile337Thr) variant DOID:0110424 dilated cardiomyopathy 1CC IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1CC PMID:25741868|PMID:28492532|PMID:29247119|PMID:30847666 10055894 CV198088 NM_144573.4(NEXN):c.1222T>C (p.Phe408Leu) variant DOID:0110326 hypertrophic cardiomyopathy 20 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 20 PMID:25741868|PMID:28492532 10055894 CV198088 NM_144573.4(NEXN):c.1222T>C (p.Phe408Leu) variant DOID:0110424 dilated cardiomyopathy 1CC IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1CC PMID:25741868|PMID:28492532 10055895 CV198089 NM_144573.4(NEXN):c.1271C>T (p.Thr424Ile) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10055895 CV198089 NM_144573.4(NEXN):c.1271C>T (p.Thr424Ile) variant DOID:0110326 hypertrophic cardiomyopathy 20 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 20 PMID:25741868|PMID:28492532 10055895 CV198089 NM_144573.4(NEXN):c.1271C>T (p.Thr424Ile) variant DOID:0110424 dilated cardiomyopathy 1CC IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1CC PMID:25741868|PMID:28492532 10055895 CV198089 NM_144573.4(NEXN):c.1271C>T (p.Thr424Ile) variant DOID:0110425 dilated cardiomyopathy 1A IAGP D RGD:8554872 20201015 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:25741868|PMID:28492532 10055895 CV198089 NM_144573.4(NEXN):c.1271C>T (p.Thr424Ile) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant PMID:25741868|PMID:28492532 10055896 CV198092 NM_144573.4(NEXN):c.1435C>T (p.Leu479Phe) variant DOID:0080326 familial hypertrophic cardiomyopathy IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:25741868|PMID:28492532|PMID:30531895 10055896 CV198092 NM_144573.4(NEXN):c.1435C>T (p.Leu479Phe) variant DOID:0110307 hypertrophic cardiomyopathy 1 IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis PMID:25741868|PMID:28492532|PMID:30531895 10055896 CV198092 NM_144573.4(NEXN):c.1435C>T (p.Leu479Phe) variant DOID:0110326 hypertrophic cardiomyopathy 20 IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 20 PMID:25741868|PMID:28492532|PMID:30531895 10055896 CV198092 NM_144573.4(NEXN):c.1435C>T (p.Leu479Phe) variant DOID:0110424 dilated cardiomyopathy 1CC IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1CC PMID:25741868|PMID:28492532|PMID:30531895 10055897 CV198094 NM_144573.4(NEXN):c.1471G>C (p.Glu491Gln) variant DOID:0110326 hypertrophic cardiomyopathy 20 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 20 PMID:25741868|PMID:28492532 10055897 CV198094 NM_144573.4(NEXN):c.1471G>C (p.Glu491Gln) variant DOID:0110424 dilated cardiomyopathy 1CC IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1CC PMID:25741868|PMID:28492532 10055899 CV198097 NM_144573.4(NEXN):c.1615C>T (p.Arg539Cys) variant DOID:0110326 hypertrophic cardiomyopathy 20 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 20 PMID:25741868|PMID:28492532 10055899 CV198097 NM_144573.4(NEXN):c.1615C>T (p.Arg539Cys) variant DOID:0110424 dilated cardiomyopathy 1CC IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1CC PMID:25741868|PMID:28492532 10055900 CV198098 NM_144573.4(NEXN):c.1618A>G (p.Met540Val) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:28087566|PMID:28492532 10055900 CV198098 NM_144573.4(NEXN):c.1618A>G (p.Met540Val) variant DOID:0110326 hypertrophic cardiomyopathy 20 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 20 PMID:24033266|PMID:25741868|PMID:28087566|PMID:28492532 10055900 CV198098 NM_144573.4(NEXN):c.1618A>G (p.Met540Val) variant DOID:0110424 dilated cardiomyopathy 1CC IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1CC PMID:24033266|PMID:25741868|PMID:28087566|PMID:28492532 10055903 CV198103 NM_144573.4(NEXN):c.1805C>T (p.Thr602Met) variant DOID:0110326 hypertrophic cardiomyopathy 20 IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 20 PMID:25741868|PMID:28492532 10055903 CV198103 NM_144573.4(NEXN):c.1805C>T (p.Thr602Met) variant DOID:0110424 dilated cardiomyopathy 1CC IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1CC PMID:25741868|PMID:28492532 10055904 CV198104 NM_144573.4(NEXN):c.1911C>A (p.Tyr637Ter) variant DOID:0110424 dilated cardiomyopathy 1CC IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1CC PMID:28492532 10055905 CV198091 NM_144573.4(NEXN):c.1430T>C (p.Ile477Thr) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10055905 CV198091 NM_144573.4(NEXN):c.1430T>C (p.Ile477Thr) variant DOID:0110326 hypertrophic cardiomyopathy 20 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 20 PMID:25741868|PMID:28492532 10055905 CV198091 NM_144573.4(NEXN):c.1430T>C (p.Ile477Thr) variant DOID:0110424 dilated cardiomyopathy 1CC IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1CC PMID:25741868|PMID:28492532 10055908 CV198077 NM_144573.4(NEXN):c.461_464del (p.Asn154fs) variant DOID:0110326 hypertrophic cardiomyopathy 20 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 20 PMID:28492532|PMID:32058062|PMID:32814711|PMID:32870709|PMID:33949776 10055908 CV198077 NM_144573.4(NEXN):c.461_464del (p.Asn154fs) variant DOID:0110424 dilated cardiomyopathy 1CC IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1CC PMID:28492532|PMID:32058062|PMID:32814711|PMID:32870709|PMID:33949776 10055913 CV198083 NM_144573.4(NEXN):c.874G>A (p.Asp292Asn) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532|PMID:30847666 10055913 CV198083 NM_144573.4(NEXN):c.874G>A (p.Asp292Asn) variant DOID:0110326 hypertrophic cardiomyopathy 20 IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 20 PMID:25741868|PMID:28492532|PMID:30847666 10055913 CV198083 NM_144573.4(NEXN):c.874G>A (p.Asp292Asn) variant DOID:0110424 dilated cardiomyopathy 1CC IAGP D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1CC PMID:25741868|PMID:28492532|PMID:30847666 10055914 CV198096 NM_144573.4(NEXN):c.1595T>C (p.Ile532Thr) variant DOID:0110307 hypertrophic cardiomyopathy 1 IAGP D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 PMID:25741868|PMID:28492532 10055914 CV198096 NM_144573.4(NEXN):c.1595T>C (p.Ile532Thr) variant DOID:0110326 hypertrophic cardiomyopathy 20 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 20 PMID:25741868|PMID:28492532 10055914 CV198096 NM_144573.4(NEXN):c.1595T>C (p.Ile532Thr) variant DOID:0110424 dilated cardiomyopathy 1CC IAGP D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1CC PMID:25741868|PMID:28492532 10055915 CV198099 NM_144573.4(NEXN):c.1640T>C (p.Ile547Thr) variant DOID:0110326 hypertrophic cardiomyopathy 20 IAGP D RGD:8554872 20200410 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 20 PMID:28333919|PMID:28492532 10055915 CV198099 NM_144573.4(NEXN):c.1640T>C (p.Ile547Thr) variant DOID:0110424 dilated cardiomyopathy 1CC IAGP D RGD:8554872 20200410 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1CC PMID:28333919|PMID:28492532 10055917 CV198107 NM_144573.3(NEXN):c.2026_*1del variant DOID:0110326 hypertrophic cardiomyopathy 20 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 20 PMID:19881492|PMID:20970104|PMID:24033266|PMID:28492532|PMID:32529721 10055917 CV198107 NM_144573.3(NEXN):c.2026_*1del variant DOID:0110424 dilated cardiomyopathy 1CC IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1CC PMID:19881492|PMID:20970104|PMID:24033266|PMID:28492532|PMID:32529721 10055918 CV198166 NM_014476.6(PDLIM3):c.696C>T (p.Asp232=) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 10055918 CV198166 NM_014476.6(PDLIM3):c.696C>T (p.Asp232=) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28492532 10055919 CV198164 NM_014476.6(PDLIM3):c.896G>A (p.Ser299Asn) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:28492532 10055919 CV198164 NM_014476.6(PDLIM3):c.896G>A (p.Ser299Asn) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28492532 10055921 CV198170 NM_014476.6(PDLIM3):c.29C>T (p.Pro10Leu) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 10055921 CV198170 NM_014476.6(PDLIM3):c.29C>T (p.Pro10Leu) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:28492532 10055922 CV198169 NM_014476.6(PDLIM3):c.60C>A (p.Gly20=) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 10055924 CV198165 NM_014476.6(PDLIM3):c.715G>A (p.Asp239Asn) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Familial cardiomyopathy PMID:24033266|PMID:28492532 10055924 CV198165 NM_014476.6(PDLIM3):c.715G>A (p.Asp239Asn) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:24033266|PMID:28492532 10055925 CV198163 NM_014476.6(PDLIM3):c.926G>A (p.Arg309Gln) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28492532 10055926 CV198161 NM_014476.6(PDLIM3):c.1082A>G (p.Tyr361Cys) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25741868|PMID:28492532 10055927 CV198171 NM_014476.6(PDLIM3):c.11C>T (p.Thr4Met) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:28492532|PMID:34802252 10055929 CV198393 NM_001005242.3(PKP2):c.2168-6T>C variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10055929 CV198393 NM_001005242.3(PKP2):c.2168-6T>C variant DOID:0110077 arrhythmogenic right ventricular dysplasia 9 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 PMID:25741868|PMID:28492532 10055930 CV198451 NM_001005242.3(PKP2):c.387G>A (p.Gln129=) variant DOID:0050431 arrhythmogenic right ventricular cardiomyopathy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:25741868|PMID:28492532 10055930 CV198451 NM_001005242.3(PKP2):c.387G>A (p.Gln129=) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10055930 CV198451 NM_001005242.3(PKP2):c.387G>A (p.Gln129=) variant DOID:0110077 arrhythmogenic right ventricular dysplasia 9 IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 PMID:25741868|PMID:28492532 10055931 CV198428 NM_001005242.3(PKP2):c.1171-17A>G variant DOID:0110077 arrhythmogenic right ventricular dysplasia 9 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 PMID:28492532 10055932 CV198183 NM_002667.5(PLN):c.145G>A (p.Val49Met) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:26573135|PMID:28492532 10055932 CV198183 NM_002667.5(PLN):c.145G>A (p.Val49Met) variant DOID:0110324 hypertrophic cardiomyopathy 18 IAGP D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 18 PMID:25741868|PMID:26573135|PMID:28492532 10055932 CV198183 NM_002667.5(PLN):c.145G>A (p.Val49Met) variant DOID:0110439 dilated cardiomyopathy 1P IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1P PMID:25741868|PMID:26573135|PMID:28492532 10055933 CV198179 NM_002667.5(PLN):c.26G>A (p.Arg9His) variant DOID:0110439 dilated cardiomyopathy 1P IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1P PMID:12610310|PMID:22137083|PMID:22427649|PMID:22707725|PMID:25351510|PMID:25563649|PMID:25741868|PMID:25928149|PMID:26917049|PMID:28492532|PMID:29501609|PMID:30794913|PMID:30871747|PMID:35297759 10055934 CV198181 NM_002667.5(PLN):c.73C>G (p.Arg25Gly) variant DOID:0110439 dilated cardiomyopathy 1P IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1P PMID:25691538|PMID:25852082|PMID:28492532|PMID:30012837 10055935 CV198180 NM_002667.5(PLN):c.63_64dup (p.Gln22fs) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:12639993|PMID:17655857|PMID:21167350|PMID:25611685|PMID:25741868|PMID:26535225|PMID:27532257|PMID:28492532|PMID:35470680|PMID:35653365 10055935 CV198180 NM_002667.5(PLN):c.63_64dup (p.Gln22fs) variant DOID:0110439 dilated cardiomyopathy 1P IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1P PMID:12639993|PMID:17655857|PMID:21167350|PMID:25611685|PMID:25741868|PMID:26535225|PMID:27532257|PMID:28492532|PMID:35470680|PMID:35653365 10055935 CV198180 NM_002667.5(PLN):c.63_64dup (p.Gln22fs) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:12639993|PMID:17655857|PMID:21167350|PMID:25611685|PMID:25741868|PMID:26535225|PMID:27532257|PMID:28492532|PMID:35470680|PMID:35653365 10055936 CV198182 NM_002667.5(PLN):c.73C>T (p.Arg25Cys) variant DOID:0110439 dilated cardiomyopathy 1P IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1P PMID:16897780|PMID:25351510|PMID:25691538|PMID:25852082|PMID:28492532|PMID:30012515|PMID:30012837|PMID:30847666 10055936 CV198182 NM_002667.5(PLN):c.73C>T (p.Arg25Cys) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:16897780|PMID:25351510|PMID:25691538|PMID:25852082|PMID:28492532|PMID:30012515|PMID:30012837|PMID:30847666 10055937 CV198189 NM_001134363.3(RBM20):c.488G>A (p.Arg163Gln) variant DOID:0110447 dilated cardiomyopathy 1DD IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1DD PMID:28492532 10055938 CV198192 NM_001134363.3(RBM20):c.674C>T (p.Thr225Ile) variant DOID:0110447 dilated cardiomyopathy 1DD IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1DD PMID:28492532 10055939 CV198197 NM_001134363.3(RBM20):c.1451C>T (p.Thr484Ile) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25351510|PMID:25741868|PMID:28492532 10055939 CV198197 NM_001134363.3(RBM20):c.1451C>T (p.Thr484Ile) variant DOID:0110447 dilated cardiomyopathy 1DD IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1DD PMID:25351510|PMID:25741868|PMID:28492532 10055940 CV198199 NM_001134363.3(RBM20):c.1603G>A (p.Val535Ile) variant DOID:0110447 dilated cardiomyopathy 1DD IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1DD PMID:20590677|PMID:22466703|PMID:28492532|PMID:35470680 10055941 CV198201 NM_001134363.3(RBM20):c.1617G>T (p.Gly539=) variant DOID:0110447 dilated cardiomyopathy 1DD IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1DD PMID:25741868|PMID:28492532 10055942 CV198211 NM_001134363.3(RBM20):c.2116C>A (p.Pro706Thr) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:24033266|PMID:25351510|PMID:25741868|PMID:28492532|PMID:29892087|PMID:31983221 10055942 CV198211 NM_001134363.3(RBM20):c.2116C>A (p.Pro706Thr) variant DOID:0110447 dilated cardiomyopathy 1DD IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1DD PMID:24033266|PMID:25351510|PMID:25741868|PMID:28492532|PMID:29892087|PMID:31983221 10055944 CV198217 NM_001134363.3(RBM20):c.2547T>A (p.Asn849Lys) variant DOID:0110447 dilated cardiomyopathy 1DD IAGP D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1DD PMID:28492532|PMID:31648988 10055945 CV198221 NM_001134363.3(RBM20):c.2862C>T (p.Asp954=) variant DOID:0110447 dilated cardiomyopathy 1DD IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1DD PMID:25741868|PMID:28492532 10055947 CV198226 NM_001134363.3(RBM20):c.3317-20C>T variant DOID:0110447 dilated cardiomyopathy 1DD IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1DD PMID:28492532 10055948 CV198186 NM_001134363.3(RBM20):c.224C>T (p.Ser75Leu) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:25741868|PMID:28492532|PMID:29628476|PMID:30847666 10055948 CV198186 NM_001134363.3(RBM20):c.224C>T (p.Ser75Leu) variant DOID:0110447 dilated cardiomyopathy 1DD IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1DD PMID:25741868|PMID:28492532|PMID:29628476|PMID:30847666 10055949 CV198191 NM_001134363.3(RBM20):c.613C>A (p.Gln205Lys) variant DOID:0110447 dilated cardiomyopathy 1DD IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1DD PMID:25741868|PMID:28492532 10055950 CV198194 NM_001134363.3(RBM20):c.1040A>G (p.Tyr347Cys) variant DOID:0110447 dilated cardiomyopathy 1DD IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1DD PMID:28492532 10055951 CV198195 NM_001134363.3(RBM20):c.1156C>T (p.Gln386Ter) variant DOID:0110447 dilated cardiomyopathy 1DD IAGP D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1DD PMID:28492532 10055953 CV198198 NM_001134363.3(RBM20):c.1552C>T (p.Arg518Cys) variant DOID:0110447 dilated cardiomyopathy 1DD IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1DD PMID:25741868|PMID:28492532|PMID:30871351|PMID:34486814 10055954 CV198200 NM_001134363.3(RBM20):c.1607T>C (p.Ile536Thr) variant DOID:0110447 dilated cardiomyopathy 1DD IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1DD PMID:28492532|PMID:31419596|PMID:36198914 10055955 CV198202 NM_001134363.3(RBM20):c.1668G>C (p.Gln556His) variant DOID:0110447 dilated cardiomyopathy 1DD IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1DD PMID:17576681|PMID:28492532|PMID:9536098 10055956 CV198204 NM_001134363.3(RBM20):c.1769T>G (p.Met590Arg) variant DOID:0110447 dilated cardiomyopathy 1DD IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1DD PMID:28492532 10055957 CV198205 NM_001134363.3(RBM20):c.1867C>T (p.Arg623Trp) variant DOID:0110447 dilated cardiomyopathy 1DD IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1DD PMID:25741868|PMID:28492532|PMID:35352813|PMID:37432431 10055958 CV198207 NM_001134363.3(RBM20):c.1910G>A (p.Ser637Asn) variant DOID:0110447 dilated cardiomyopathy 1DD IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1DD PMID:19712804|PMID:28492532|PMID:32851336 10055959 CV198208 NM_001134363.3(RBM20):c.1913C>G (p.Pro638Arg) variant DOID:0110447 dilated cardiomyopathy 1DD IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1DD PMID:19712804|PMID:22466703|PMID:28492532|PMID:30547036|PMID:33029862|PMID:33188278|PMID:36417486 10055960 CV198209 NM_001134363.3(RBM20):c.1922G>A (p.Arg641Gln) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10055960 CV198209 NM_001134363.3(RBM20):c.1922G>A (p.Arg641Gln) variant DOID:0110447 dilated cardiomyopathy 1DD IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1DD PMID:25741868|PMID:28492532 10055961 CV198210 NM_001134363.3(RBM20):c.2062C>T (p.Arg688Ter) variant DOID:0110447 dilated cardiomyopathy 1DD IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1DD PMID:25741868|PMID:25979592|PMID:28492532|PMID:28798025|PMID:31514951|PMID:33996946|PMID:36264615 10055962 CV198212 NM_001134363.3(RBM20):c.2158A>G (p.Lys720Glu) variant DOID:0110447 dilated cardiomyopathy 1DD IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1DD PMID:28492532 10055965 CV198218 NM_001134363.3(RBM20):c.2588C>G (p.Pro863Arg) variant DOID:0110425 dilated cardiomyopathy 1A IAGP D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:25741868|PMID:28492532 10055965 CV198218 NM_001134363.3(RBM20):c.2588C>G (p.Pro863Arg) variant DOID:0110447 dilated cardiomyopathy 1DD IAGP D RGD:8554872 20220104 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1DD PMID:25741868|PMID:28492532 10055966 CV198219 NM_001134363.3(RBM20):c.2736C>A (p.Asp912Glu) variant DOID:0110447 dilated cardiomyopathy 1DD IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: RBM20-related condition 10055967 CV198220 NM_001134363.3(RBM20):c.2741T>C (p.Val914Ala) variant DOID:0110447 dilated cardiomyopathy 1DD IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1DD PMID:28492532|PMID:32840935 10055968 CV198223 NM_001134363.3(RBM20):c.2986G>T (p.Asp996Tyr) variant DOID:0110447 dilated cardiomyopathy 1DD IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1DD PMID:28087566|PMID:28407228|PMID:28492532 10055969 CV198224 NM_001134363.3(RBM20):c.3046G>A (p.Gly1016Ser) variant DOID:0110447 dilated cardiomyopathy 1DD IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1DD PMID:28492532 10055970 CV198225 NM_001134363.3(RBM20):c.3091G>T (p.Gly1031Ter) variant DOID:0110447 dilated cardiomyopathy 1DD IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1DD PMID:22004663|PMID:28492532 10055971 CV198227 NM_001134363.3(RBM20):c.3464T>C (p.Val1155Ala) variant DOID:0110447 dilated cardiomyopathy 1DD IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1DD PMID:28492532|PMID:29892087|PMID:30871351 10055972 CV198185 NM_001134363.3(RBM20):c.42C>G (p.Ser14Arg) variant DOID:0110447 dilated cardiomyopathy 1DD IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1DD PMID:25741868|PMID:28492532 10055973 CV198187 NM_001134363.3(RBM20):c.237_298del (p.Asn80fs) variant DOID:0110447 dilated cardiomyopathy 1DD IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1DD PMID:25741868|PMID:28492532 10055975 CV198188 NM_001134363.3(RBM20):c.304C>T (p.Arg102Trp) variant DOID:0110447 dilated cardiomyopathy 1DD IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1DD PMID:28492532 10055976 CV198190 NM_001134363.3(RBM20):c.532C>T (p.Arg178Ter) variant DOID:0110447 dilated cardiomyopathy 1DD IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1DD PMID:28492532|PMID:33996946 10055977 CV198203 NM_001134363.3(RBM20):c.1748G>A (p.Gly583Asp) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10055977 CV198203 NM_001134363.3(RBM20):c.1748G>A (p.Gly583Asp) variant DOID:0110447 dilated cardiomyopathy 1DD IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1DD PMID:25741868|PMID:28492532 10055979 CV198206 NM_001134363.3(RBM20):c.1909_1911del (p.Ser637del) variant DOID:0110447 dilated cardiomyopathy 1DD IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1DD PMID:28492532 10055980 CV198177 NM_000337.6(SGCD):c.402T>C (p.Ala134=) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10055980 CV198177 NM_000337.6(SGCD):c.402T>C (p.Ala134=) variant DOID:0110280 autosomal recessive limb-girdle muscular dystrophy type 2F IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Muscular dystrophy limb-girdle with delta-sarcoglyan deficiency PMID:25741868|PMID:28492532 10055980 CV198177 NM_000337.6(SGCD):c.402T>C (p.Ala134=) variant DOID:630 genetic disease IAGP D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10055981 CV198301 NM_014000.3(VCL):c.2023-20A>G variant DOID:0110446 dilated cardiomyopathy 1W IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1W PMID:25741868|PMID:28492532 10055982 CV198286 NM_014000.3(VCL):c.81C>T (p.His27=) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:25741868|PMID:28492532 10055982 CV198286 NM_014000.3(VCL):c.81C>T (p.His27=) variant DOID:0110446 dilated cardiomyopathy 1W IAGP D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1W PMID:25741868|PMID:28492532 10055983 CV198300 NM_014000.3(VCL):c.2000C>T (p.Thr667Met) variant DOID:0110446 dilated cardiomyopathy 1W IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1W PMID:25741868|PMID:28492532 10055984 CV198302 NM_014000.3(VCL):c.2428G>A (p.Asp810Asn) variant DOID:0110446 dilated cardiomyopathy 1W IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1W PMID:28492532 10055985 CV198303 NM_014000.3(VCL):c.2435-1G>A variant DOID:0110446 dilated cardiomyopathy 1W IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1W PMID:16199547|PMID:28492532|PMID:32516855 10055986 CV198304 NM_014000.3(VCL):c.2467C>T (p.Arg823Trp) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:25741868|PMID:28492532|PMID:30847666 10055986 CV198304 NM_014000.3(VCL):c.2467C>T (p.Arg823Trp) variant DOID:0110446 dilated cardiomyopathy 1W IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1W PMID:25741868|PMID:28492532|PMID:30847666 10055987 CV198306 NM_014000.3(VCL):c.3091C>T (p.Arg1031Trp) variant DOID:0110446 dilated cardiomyopathy 1W IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1W PMID:28492532 10055988 CV198287 NM_014000.3(VCL):c.224C>T (p.Pro75Leu) variant DOID:0110446 dilated cardiomyopathy 1W IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1W PMID:25741868|PMID:28492532|PMID:31983221 10055990 CV198289 NM_014000.3(VCL):c.676G>A (p.Ala226Thr) variant DOID:0110446 dilated cardiomyopathy 1W IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1W PMID:28492532 10055991 CV198291 NM_014000.3(VCL):c.737G>A (p.Arg246His) variant DOID:0110446 dilated cardiomyopathy 1W IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1W PMID:28492532 10055992 CV198292 NM_014000.3(VCL):c.1015C>T (p.Arg339Cys) variant DOID:0110446 dilated cardiomyopathy 1W IAGP D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1W PMID:28492532 10055993 CV198293 NM_014000.3(VCL):c.1238C>T (p.Ala413Val) variant DOID:0110446 dilated cardiomyopathy 1W IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1W PMID:28492532 10055994 CV198294 NM_014000.3(VCL):c.1292T>G (p.Ile431Ser) variant DOID:0110446 dilated cardiomyopathy 1W IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1W PMID:28492532 10055995 CV198295 NM_014000.3(VCL):c.1298G>A (p.Arg433His) variant DOID:0110321 hypertrophic cardiomyopathy 15 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 15 PMID:25741868|PMID:28492532|PMID:30847666 10055995 CV198295 NM_014000.3(VCL):c.1298G>A (p.Arg433His) variant DOID:0110446 dilated cardiomyopathy 1W IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1W PMID:25741868|PMID:28492532|PMID:30847666 10055996 CV198296 NM_014000.3(VCL):c.1403C>T (p.Thr468Met) variant DOID:0110446 dilated cardiomyopathy 1W IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1W PMID:28492532 10055997 CV198297 NM_014000.3(VCL):c.1583G>A (p.Arg528His) variant DOID:0110321 hypertrophic cardiomyopathy 15 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 15 PMID:25741868|PMID:28492532 10055997 CV198297 NM_014000.3(VCL):c.1583G>A (p.Arg528His) variant DOID:0110446 dilated cardiomyopathy 1W IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1W PMID:25741868|PMID:28492532 10055998 CV198298 NM_014000.3(VCL):c.1708C>T (p.Arg570Ter) variant DOID:0110446 dilated cardiomyopathy 1W IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1W PMID:28492532 10055999 CV198299 NM_014000.3(VCL):c.1819A>C (p.Lys607Gln) variant DOID:0110446 dilated cardiomyopathy 1W IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1W PMID:25741868|PMID:28492532 10056000 CV198305 NM_014000.3(VCL):c.2828_2829del (p.Pro943fs) variant DOID:0110321 hypertrophic cardiomyopathy 15 IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 15 PMID:24033266|PMID:25741868|PMID:26735901|PMID:28492532|PMID:32516855 10056000 CV198305 NM_014000.3(VCL):c.2828_2829del (p.Pro943fs) variant DOID:0110446 dilated cardiomyopathy 1W IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1W PMID:24033266|PMID:25741868|PMID:26735901|PMID:28492532|PMID:32516855 10056000 CV198305 NM_014000.3(VCL):c.2828_2829del (p.Pro943fs) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:24033266|PMID:25741868|PMID:26735901|PMID:28492532|PMID:32516855 10056002 CV198290 NM_014000.3(VCL):c.736C>T (p.Arg246Cys) variant DOID:0110446 dilated cardiomyopathy 1W IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1W PMID:28492532 10056003 CV198627 NM_001134831.2(AHI1):c.1205del (p.Pro402fs) variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:15322546|PMID:16453322|PMID:28442542|PMID:28492532|PMID:29186038 10056003 CV198627 NM_001134831.2(AHI1):c.1205del (p.Pro402fs) variant DOID:0110980 Joubert syndrome 1 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Joubert syndrome 1 PMID:15322546|PMID:16453322|PMID:28442542|PMID:28492532|PMID:29186038 10056004 CV198617 NM_130837.3(OPA1):c.1511del (p.Thr504fs) variant DOID:0111340 dominant optic atrophy plus syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY PMID:21646330 10056005 CV198632 NM_015665.6(AAAS):c.938T>C (p.Val313Ala) variant DOID:0050602 triple-A syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Glucocorticoid deficiency with achalasia PMID:12429595|PMID:12730363|PMID:12752575|PMID:16609705|PMID:25741868|PMID:30069287 10056006 CV198642 NM_172107.4(KCNQ2):c.698_699insACC (p.Val233_Thr234insPro) variant DOID:0080462 developmental and epileptic encephalopathy 7 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 7 PMID:18353052|PMID:9425895|PMID:9430594 10056007 CV198602 NM_014874.4(MFN2):c.746C>T (p.Ser249Phe) variant DOID:0050539 Charcot-Marie-Tooth disease type 2 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:20301684|PMID:21326314|PMID:26378787|PMID:26801520|PMID:28492532 10056007 CV198602 NM_014874.4(MFN2):c.746C>T (p.Ser249Phe) variant DOID:10595 Charcot-Marie-Tooth disease IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:20301684|PMID:21326314|PMID:26378787|PMID:26801520|PMID:28492532 10056007 CV198602 NM_014874.4(MFN2):c.746C>T (p.Ser249Phe) variant DOID:9004551 Charcot-Marie-Tooth Disease Type 2A2 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2A2 PMID:20301684|PMID:21326314|PMID:26378787|PMID:26801520|PMID:28492532 10056008 CV198639 NM_000430.4(PAFAH1B1):c.818G>A (p.Arg273Gln) variant DOID:0050453 lissencephaly IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Lissencephaly 1 PMID:15007136|PMID:9063735 10056009 CV198608 NM_001165963.4(SCN1A):c.4444A>C (p.Ile1482Leu) variant DOID:0080422 Dravet syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy 10056010 CV198648 NM_000501.4(ELN):c.2161del (p.Arg721fs) variant DOID:0070130 autosomal dominant cutis laxa 1 IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Cutis laxa, autosomal dominant 1 PMID:18348261|PMID:21309044|PMID:9215671 10056011 CV198638 NM_000512.5(GALNS):c.47T>A (p.Val16Glu) variant DOID:0111391 mucopolysaccharidosis IVA IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-A PMID:16287098|PMID:24726177|PMID:25741868|PMID:34387910|PMID:9375852 10056012 CV198629 NM_000083.3(CLCN1):c.2578G>A (p.Val860Ile) variant DOID:0081335 Becker disease IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Congenital myotonia, autosomal recessive form PMID:12955720|PMID:18263754|PMID:20301529|PMID:20301788|PMID:25741868|PMID:26467025|PMID:28492532 10056012 CV198629 NM_000083.3(CLCN1):c.2578G>A (p.Val860Ile) variant DOID:0081336 Thomsen disease IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Congenital myotonia, autosomal dominant form PMID:12955720|PMID:18263754|PMID:20301529|PMID:20301788|PMID:25741868|PMID:26467025|PMID:28492532 10056013 CV198644 NM_001848.3(COL6A1):c.821C>T (p.Pro274Leu) variant DOID:0061198 Bethlem myopathy 1A IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 1A PMID:15689448|PMID:20301468|PMID:28492532 10056015 CV198631 NM_001082971.2(DDC):c.1040G>A (p.Arg347Gln) variant DOID:0090123 aromatic L-amino acid decarboxylase deficiency IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Deficiency of aromatic-L-amino-acid decarboxylase PMID:15079002|PMID:17240182|PMID:20505134|PMID:23430870|PMID:24865461|PMID:25741868|PMID:26994895|PMID:28492532|PMID:28924877|PMID:29356298|PMID:30144970|PMID:30952622 10056016 CV198640 NM_020812.4(DOCK6):c.4469G>A (p.Arg1490Gln) variant DOID:9002962 Adams-Oliver Syndrome 2 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: DOCK6-related condition PMID:21820096|PMID:28492532 10056017 CV198626 NM_002667.5(PLN):c.131T>C (p.Leu44Pro) variant DOID:0110324 hypertrophic cardiomyopathy 18 IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 18 PMID:12610310|PMID:16829191|PMID:28492532 10056017 CV198626 NM_002667.5(PLN):c.131T>C (p.Leu44Pro) variant DOID:0110439 dilated cardiomyopathy 1P IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1P PMID:12610310|PMID:16829191|PMID:28492532 10056018 CV198633 NM_001032386.2(SUOX):c.332T>A (p.Val111Asp) variant DOID:0111270 isolated sulfite oxidase deficiency IAGP D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Sulfite oxidase deficiency PMID:12112661|PMID:9428520 10056020 CV198647 NM_000284.4(PDHA1):c.422G>A (p.Arg141Gln) variant DOID:9000982 Pyruvate Dehydrogenase E1 Alpha Deficiency IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency PMID:10679936|PMID:11241048|PMID:11757583|PMID:25741868|PMID:28492532 10056021 CV198610 NM_001365536.1(SCN9A):c.2723G>A (p.Trp908Ter) variant DOID:0050548 hereditary sensory neuropathy IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE PMID:17167479|PMID:17470132|PMID:19304393|PMID:25309764|PMID:25741868|PMID:28492532|PMID:30795902 10056021 CV198610 NM_001365536.1(SCN9A):c.2723G>A (p.Trp908Ter) variant DOID:0070155 hereditary sensory and autonomic neuropathy type 2A IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A PMID:17167479|PMID:17470132|PMID:19304393|PMID:25309764|PMID:25741868|PMID:28492532|PMID:30795902 10056021 CV198610 NM_001365536.1(SCN9A):c.2723G>A (p.Trp908Ter) variant DOID:0111295 generalized epilepsy with febrile seizures plus 7 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 7 PMID:17167479|PMID:17470132|PMID:19304393|PMID:25309764|PMID:25741868|PMID:28492532|PMID:30795902 10056021 CV198610 NM_001365536.1(SCN9A):c.2723G>A (p.Trp908Ter) variant DOID:9008324 Congenital Indifference to Pain, Autosomal Recessive IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Indifference to pain, congenital, autosomal recessive PMID:17167479|PMID:17470132|PMID:19304393|PMID:25309764|PMID:25741868|PMID:28492532|PMID:30795902 10056021 CV198610 NM_001365536.1(SCN9A):c.2723G>A (p.Trp908Ter) variant DOID:9008482 Congenital Pain Insensitivity IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Insensitivity to pain, channelopathy-associated PMID:17167479|PMID:17470132|PMID:19304393|PMID:25309764|PMID:25741868|PMID:28492532|PMID:30795902 10056022 CV198618 NM_000404.4(GLB1):c.1577dup (p.Trp527fs) variant DOID:0080489 GM1 gangliosidosis type 3 IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: GM1 gangliosidosis type 3 PMID:10338095|PMID:15986423|PMID:16941474|PMID:17309651|PMID:18524657|PMID:21637542|PMID:25741868|PMID:25936995|PMID:28492532|PMID:31761138 10056022 CV198618 NM_000404.4(GLB1):c.1577dup (p.Trp527fs) variant DOID:0080501 GM1 gangliosidosis type 2 IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: GM1 gangliosidosis type 2 PMID:10338095|PMID:15986423|PMID:16941474|PMID:17309651|PMID:18524657|PMID:21637542|PMID:25741868|PMID:25936995|PMID:28492532|PMID:31761138 10056022 CV198618 NM_000404.4(GLB1):c.1577dup (p.Trp527fs) variant DOID:0080502 GM1 gangliosidosis type 1 IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Infantile GM1 gangliosidosis PMID:10338095|PMID:15986423|PMID:16941474|PMID:17309651|PMID:18524657|PMID:21637542|PMID:25741868|PMID:25936995|PMID:28492532|PMID:31761138 10056022 CV198618 NM_000404.4(GLB1):c.1577dup (p.Trp527fs) variant DOID:0111392 mucopolysaccharidosis type IVB IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-IV-B PMID:10338095|PMID:15986423|PMID:16941474|PMID:17309651|PMID:18524657|PMID:21637542|PMID:25741868|PMID:25936995|PMID:28492532|PMID:31761138 10056022 CV198618 NM_000404.4(GLB1):c.1577dup (p.Trp527fs) variant DOID:3322 GM1 gangliosidosis IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: GM1 gangliosidosis PMID:10338095|PMID:15986423|PMID:16941474|PMID:17309651|PMID:18524657|PMID:21637542|PMID:25741868|PMID:25936995|PMID:28492532|PMID:31761138 10056023 CV198634 NM_006493.4(CLN5):c.371del (p.Ser124fs) variant DOID:14503 neuronal ceroid lipofuscinosis IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 10056024 CV198628 NM_004333.6(BRAF):c.1783T>C (p.Phe595Leu) variant DOID:0060233 cardiofaciocutaneous syndrome IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome PMID:15035987|PMID:16439621|PMID:18042262|PMID:19206169|PMID:20186801|PMID:20301365|PMID:21871821|PMID:22495831|PMID:23093928|PMID:25463315|PMID:25741868|PMID:26582644|PMID:28492532|PMID:29084544|PMID:29533785|PMID:33683002 10056024 CV198628 NM_004333.6(BRAF):c.1783T>C (p.Phe595Leu) variant DOID:0080690 RASopathy IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: RASopathy PMID:15035987|PMID:16439621|PMID:18042262|PMID:19206169|PMID:20186801|PMID:20301365|PMID:21871821|PMID:22495831|PMID:23093928|PMID:25463315|PMID:25741868|PMID:26582644|PMID:28492532|PMID:29084544|PMID:29533785|PMID:33683002 10056024 CV198628 NM_004333.6(BRAF):c.1783T>C (p.Phe595Leu) variant DOID:0111460 cardiofaciocutaneous syndrome 1 IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 1 PMID:15035987|PMID:16439621|PMID:18042262|PMID:19206169|PMID:20186801|PMID:20301365|PMID:21871821|PMID:22495831|PMID:23093928|PMID:25463315|PMID:25741868|PMID:26582644|PMID:28492532|PMID:29084544|PMID:29533785|PMID:33683002 10056024 CV198628 NM_004333.6(BRAF):c.1783T>C (p.Phe595Leu) variant DOID:9005062 Prostate Cancer, Hereditary, 1 IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Prostate cancer, hereditary, 1 PMID:15035987|PMID:16439621|PMID:18042262|PMID:19206169|PMID:20186801|PMID:20301365|PMID:21871821|PMID:22495831|PMID:23093928|PMID:25463315|PMID:25741868|PMID:26582644|PMID:28492532|PMID:29084544|PMID:29533785|PMID:33683002 10056025 CV198616 NM_020800.3(IFT80):c.869A>G (p.Asn290Ser) variant DOID:0050592 asphyxiating thoracic dystrophy IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Jeune thoracic dystrophy PMID:16783378|PMID:17468754|PMID:19610081|PMID:20301718|PMID:25741868|PMID:28492532 10056025 CV198616 NM_020800.3(IFT80):c.869A>G (p.Asn290Ser) variant DOID:0110086 asphyxiating thoracic dystrophy 2 IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 2 PMID:16783378|PMID:17468754|PMID:19610081|PMID:20301718|PMID:25741868|PMID:28492532 10056026 CV198605 NM_006516.4(SLC2A1):c.724C>T (p.Gln242Ter) variant DOID:0070561 glucose transporter type 1 deficiency syndrome 1 IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Encephalopathy due to GLUT1 deficiency PMID:18606970|PMID:20301603|PMID:25167861|PMID:25741868 10056026 CV198605 NM_006516.4(SLC2A1):c.724C>T (p.Gln242Ter) variant DOID:0090045 glucose transporter type 1 deficiency syndrome 2 IAGP D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Childhood onset GLUT1 deficiency syndrome 2 PMID:18606970|PMID:20301603|PMID:25167861|PMID:25741868 10056026 CV198605 NM_006516.4(SLC2A1):c.724C>T (p.Gln242Ter) variant DOID:1059 intellectual disability IAGP D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:18606970|PMID:20301603|PMID:25167861|PMID:25741868 10056027 CV198630 NM_152743.4(BRAT1):c.1857G>A (p.Trp619Ter) variant DOID:9003268 Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Neonatal-onset encephalopathy with rigidity and seizures PMID:16385454|PMID:22279524|PMID:23035047|PMID:27480663|PMID:28492532 10056029 CV198614 NM_000179.3(MSH6):c.175C>A (p.Pro59Thr) variant DOID:0070272 hereditary nonpolyposis colorectal cancer type 5 IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 5 PMID:20301390|PMID:25741868|PMID:28492532|PMID:30426508|PMID:9390556 10056029 CV198614 NM_000179.3(MSH6):c.175C>A (p.Pro59Thr) variant DOID:3883 Lynch syndrome IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:20301390|PMID:25741868|PMID:28492532|PMID:30426508|PMID:9390556 10056029 CV198614 NM_000179.3(MSH6):c.175C>A (p.Pro59Thr) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Hereditary neoplastic syndrome PMID:20301390|PMID:25741868|PMID:28492532|PMID:30426508|PMID:9390556 10056030 CV198622 NM_000038.6(APC):c.170A>T (p.Asp57Val) variant DOID:0080409 familial adenomatous polyposis 1 IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:11727201|PMID:12673792|PMID:20301519|PMID:20301601|PMID:28492532|PMID:33606809 10056030 CV198622 NM_000038.6(APC):c.170A>T (p.Asp57Val) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:11727201|PMID:12673792|PMID:20301519|PMID:20301601|PMID:28492532|PMID:33606809 10056030 CV198622 NM_000038.6(APC):c.170A>T (p.Asp57Val) variant DOID:9008952 Breast Cancer, Familial IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:11727201|PMID:12673792|PMID:20301519|PMID:20301601|PMID:28492532|PMID:33606809 10056031 CV198641 NM_000064.4(C3):c.640C>T (p.Pro214Ser) variant DOID:0080301 atypical hemolytic-uremic syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 PMID:18796626|PMID:20301541|PMID:28492532|PMID:29888403 10056032 CV198613 NM_000251.3(MSH2):c.2459G>A (p.Gly820Asp) variant DOID:0070271 Lynch syndrome 1 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1 PMID:23960188|PMID:25741868|PMID:28492532|PMID:33357406|PMID:35534704 10056032 CV198613 NM_000251.3(MSH2):c.2459G>A (p.Gly820Asp) variant DOID:3883 Lynch syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Lynch syndrome PMID:23960188|PMID:25741868|PMID:28492532|PMID:33357406|PMID:35534704 10056032 CV198613 NM_000251.3(MSH2):c.2459G>A (p.Gly820Asp) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:23960188|PMID:25741868|PMID:28492532|PMID:33357406|PMID:35534704 10056033 CV198615 NM_000388.4(CASR):c.2482A>C (p.Thr828Pro) variant DOID:0060700 familial hypocalciuric hypercalcemia 1 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia 1 10056034 CV198649 NM_000052.7(ATP7A):c.1947-1G>A variant DOID:1838 Menkes disease IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Menkes kinky-hair syndrome PMID:20301586|PMID:21494555 10056035 CV198625 NM_022455.5(NSD1):c.1743del (p.Glu581fs) variant DOID:14748 Sotos syndrome IAGP D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Sotos syndrome PMID:14627693 10056036 CV198646 NM_015166.4(MLC1):c.223del (p.Val75fs) variant DOID:0080316 megalencephalic leukoencephalopathy with subcortical cysts 1 IAGP D RGD:8554872 20180710 ClinVar ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 1 PMID:16470554|PMID:20301707 10056037 CV198643 NM_002772.3(TMPRSS15):c.1428+2T>G variant DOID:0111667 enterokinase deficiency IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Enterokinase deficiency PMID:11719902|PMID:16199547|PMID:28492532 10056038 CV171809 NM_018419.3(SOX18):c.481C>T (p.Gln161Ter) variant DOID:0111361 hypotrichosis-lymphedema-telangiectasia syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Hypotrichosis-lymphedema-telangiectasia syndrome PMID:12740761|PMID:24697860|PMID:26148450|PMID:28492532|PMID:31358114 10056039 CV198653 NM_003900.5(SQSTM1):c.350C>T (p.Ala117Val) variant DOID:0060213 C9orf72 frontotemporal dementia and/or amyotrophic lateral sclerosis IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis and/or frontotemporal dementia 1 PMID:11992264|PMID:22084127|PMID:24899140|PMID:25741868|PMID:25796131|PMID:26467025|PMID:26836416|PMID:27275741|PMID:27594680|PMID:28492532 10056039 CV198653 NM_003900.5(SQSTM1):c.350C>T (p.Ala117Val) variant DOID:0081366 Paget's disease of bone 3 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Paget disease of bone 3 PMID:11992264|PMID:22084127|PMID:24899140|PMID:25741868|PMID:25796131|PMID:26467025|PMID:26836416|PMID:27275741|PMID:27594680|PMID:28492532 10056040 CV199387 NM_001267550.2(TTN):c.39690G>A (p.Ala13230=) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20190611 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 10056040 CV199387 NM_001267550.2(TTN):c.39690G>A (p.Ala13230=) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, early-onset, with fatal cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 10056040 CV199387 NM_001267550.2(TTN):c.39690G>A (p.Ala13230=) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2J PMID:24033266|PMID:25741868|PMID:28492532 10056040 CV199387 NM_001267550.2(TTN):c.39690G>A (p.Ala13230=) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:24033266|PMID:25741868|PMID:28492532 10056040 CV199387 NM_001267550.2(TTN):c.39690G>A (p.Ala13230=) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:24033266|PMID:25741868|PMID:28492532 10056040 CV199387 NM_001267550.2(TTN):c.39690G>A (p.Ala13230=) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:24033266|PMID:25741868|PMID:28492532 10056041 CV199759 NM_001267550.2(TTN):c.1743G>A (p.Pro581=) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Salih Myopathy PMID:28492532 10056041 CV199759 NM_001267550.2(TTN):c.1743G>A (p.Pro581=) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:28492532 10056041 CV199759 NM_001267550.2(TTN):c.1743G>A (p.Pro581=) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:28492532 10056041 CV199759 NM_001267550.2(TTN):c.1743G>A (p.Pro581=) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:28492532 10056041 CV199759 NM_001267550.2(TTN):c.1743G>A (p.Pro581=) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Hereditary myopathy with early respiratory failure PMID:28492532 10056042 CV199348 NM_001267550.2(TTN):c.44014+19G>C variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:28492532 10056043 CV199346 NM_001267550.2(TTN):c.44154+6G>T variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:28492532 10056044 CV199319 NM_001267550.2(TTN):c.46967-19C>G variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:28492532 10056045 CV199297 NM_001267550.2(TTN):c.48624T>C (p.Pro16208=) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:25741868|PMID:28492532 10056045 CV199297 NM_001267550.2(TTN):c.48624T>C (p.Pro16208=) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:25741868|PMID:28492532 10056045 CV199297 NM_001267550.2(TTN):c.48624T>C (p.Pro16208=) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:25741868|PMID:28492532 10056046 CV199287 NM_001267550.2(TTN):c.49278T>C (p.Ala16426=) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:25741868|PMID:28492532 10056046 CV199287 NM_001267550.2(TTN):c.49278T>C (p.Ala16426=) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:25741868|PMID:28492532 10056046 CV199287 NM_001267550.2(TTN):c.49278T>C (p.Ala16426=) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:25741868|PMID:28492532 10056047 CV199242 NM_001267550.2(TTN):c.52409C>A (p.Pro17470Gln) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10056047 CV199242 NM_001267550.2(TTN):c.52409C>A (p.Pro17470Gln) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:25741868|PMID:28492532 10056047 CV199242 NM_001267550.2(TTN):c.52409C>A (p.Pro17470Gln) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:25741868|PMID:28492532 10056048 CV199232 NM_001267550.2(TTN):c.52962G>A (p.Pro17654=) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, early-onset, with fatal cardiomyopathy PMID:25741868|PMID:28492532 10056048 CV199232 NM_001267550.2(TTN):c.52962G>A (p.Pro17654=) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2J PMID:25741868|PMID:28492532 10056048 CV199232 NM_001267550.2(TTN):c.52962G>A (p.Pro17654=) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:25741868|PMID:28492532 10056048 CV199232 NM_001267550.2(TTN):c.52962G>A (p.Pro17654=) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:25741868|PMID:28492532 10056048 CV199232 NM_001267550.2(TTN):c.52962G>A (p.Pro17654=) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:25741868|PMID:28492532 10056049 CV199228 NM_001267550.2(TTN):c.53287+6G>A variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:24033266|PMID:28492532 10056050 CV199227 NM_001267550.2(TTN):c.53288-18G>T variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Early-onset myopathy with fatal cardiomyopathy PMID:25741868|PMID:28492532 10056050 CV199227 NM_001267550.2(TTN):c.53288-18G>T variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:25741868|PMID:28492532 10056050 CV199227 NM_001267550.2(TTN):c.53288-18G>T variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:25741868|PMID:28492532 10056050 CV199227 NM_001267550.2(TTN):c.53288-18G>T variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:25741868|PMID:28492532 10056050 CV199227 NM_001267550.2(TTN):c.53288-18G>T variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:25741868|PMID:28492532 10056051 CV199201 NM_001267550.2(TTN):c.55809G>A (p.Pro18603=) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:25741868|PMID:28492532 10056051 CV199201 NM_001267550.2(TTN):c.55809G>A (p.Pro18603=) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:25741868|PMID:28492532 10056052 CV199200 NM_001267550.2(TTN):c.55932T>C (p.Phe18644=) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, early-onset, with fatal cardiomyopathy PMID:25741868|PMID:28492532 10056052 CV199200 NM_001267550.2(TTN):c.55932T>C (p.Phe18644=) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2J PMID:25741868|PMID:28492532 10056052 CV199200 NM_001267550.2(TTN):c.55932T>C (p.Phe18644=) variant DOID:0110315 hypertrophic cardiomyopathy 9 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 9 PMID:25741868|PMID:28492532 10056052 CV199200 NM_001267550.2(TTN):c.55932T>C (p.Phe18644=) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:25741868|PMID:28492532 10056052 CV199200 NM_001267550.2(TTN):c.55932T>C (p.Phe18644=) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:25741868|PMID:28492532 10056052 CV199200 NM_001267550.2(TTN):c.55932T>C (p.Phe18644=) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:25741868|PMID:28492532 10056053 CV199160 NM_001267550.2(TTN):c.60621T>C (p.Tyr20207=) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, early-onset, with fatal cardiomyopathy PMID:25741868|PMID:28492532 10056053 CV199160 NM_001267550.2(TTN):c.60621T>C (p.Tyr20207=) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2J PMID:25741868|PMID:28492532 10056053 CV199160 NM_001267550.2(TTN):c.60621T>C (p.Tyr20207=) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:25741868|PMID:28492532 10056053 CV199160 NM_001267550.2(TTN):c.60621T>C (p.Tyr20207=) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:25741868|PMID:28492532 10056053 CV199160 NM_001267550.2(TTN):c.60621T>C (p.Tyr20207=) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:25741868|PMID:28492532 10056054 CV199756 NM_001267550.2(TTN):c.2230G>A (p.Ala744Thr) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:28492532 10056054 CV199756 NM_001267550.2(TTN):c.2230G>A (p.Ala744Thr) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:28492532 10056055 CV199100 NM_001267550.2(TTN):c.67058-16C>T variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:28492532 10056056 CV198998 NM_001267550.2(TTN):c.77043T>C (p.Tyr25681=) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10 PMID:26467025|PMID:28492532 10056056 CV198998 NM_001267550.2(TTN):c.77043T>C (p.Tyr25681=) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:26467025|PMID:28492532 10056057 CV198833 NM_001267550.2(TTN):c.93444C>T (p.Tyr31148=) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, early-onset, with fatal cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 10056057 CV198833 NM_001267550.2(TTN):c.93444C>T (p.Tyr31148=) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2J PMID:24033266|PMID:25741868|PMID:28492532 10056057 CV198833 NM_001267550.2(TTN):c.93444C>T (p.Tyr31148=) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:24033266|PMID:25741868|PMID:28492532 10056057 CV198833 NM_001267550.2(TTN):c.93444C>T (p.Tyr31148=) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:24033266|PMID:25741868|PMID:28492532 10056057 CV198833 NM_001267550.2(TTN):c.93444C>T (p.Tyr31148=) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:24033266|PMID:25741868|PMID:28492532 10056058 CV198760 NM_001267550.2(TTN):c.99866-10C>T variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, early-onset, with fatal cardiomyopathy PMID:25741868|PMID:26467025|PMID:28492532 10056058 CV198760 NM_001267550.2(TTN):c.99866-10C>T variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2J PMID:25741868|PMID:26467025|PMID:28492532 10056058 CV198760 NM_001267550.2(TTN):c.99866-10C>T variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:25741868|PMID:26467025|PMID:28492532 10056058 CV198760 NM_001267550.2(TTN):c.99866-10C>T variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:25741868|PMID:26467025|PMID:28492532 10056058 CV198760 NM_001267550.2(TTN):c.99866-10C>T variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:25741868|PMID:26467025|PMID:28492532 10056059 CV198744 NM_001267550.2(TTN):c.101376T>C (p.Tyr33792=) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10056059 CV198744 NM_001267550.2(TTN):c.101376T>C (p.Tyr33792=) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Salih Myopathy PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10056059 CV198744 NM_001267550.2(TTN):c.101376T>C (p.Tyr33792=) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10056059 CV198744 NM_001267550.2(TTN):c.101376T>C (p.Tyr33792=) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10056059 CV198744 NM_001267550.2(TTN):c.101376T>C (p.Tyr33792=) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10056059 CV198744 NM_001267550.2(TTN):c.101376T>C (p.Tyr33792=) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hereditary myopathy with early respiratory failure PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532 10056060 CV198737 NM_001267550.2(TTN):c.102696C>T (p.Val34232=) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:28492532 10056060 CV198737 NM_001267550.2(TTN):c.102696C>T (p.Val34232=) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:28492532 10056062 CV199679 NM_001267550.2(TTN):c.9472-19del variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Early-onset myopathy with fatal cardiomyopathy PMID:25741868|PMID:28492532 10056062 CV199679 NM_001267550.2(TTN):c.9472-19del variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:25741868|PMID:28492532 10056062 CV199679 NM_001267550.2(TTN):c.9472-19del variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:25741868|PMID:28492532 10056062 CV199679 NM_001267550.2(TTN):c.9472-19del variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:25741868|PMID:28492532 10056062 CV199679 NM_001267550.2(TTN):c.9472-19del variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:25741868|PMID:28492532 10056063 CV199677 NM_001267550.2(TTN):c.9703+17T>A variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Early-onset myopathy with fatal cardiomyopathy PMID:25741868|PMID:28492532 10056063 CV199677 NM_001267550.2(TTN):c.9703+17T>A variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J PMID:25741868|PMID:28492532 10056063 CV199677 NM_001267550.2(TTN):c.9703+17T>A variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:25741868|PMID:28492532 10056063 CV199677 NM_001267550.2(TTN):c.9703+17T>A variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:25741868|PMID:28492532 10056063 CV199677 NM_001267550.2(TTN):c.9703+17T>A variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:25741868|PMID:28492532 10056069 CV199531 NM_001267550.2(TTN):c.21276C>T (p.Thr7092=) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:26467025|PMID:28492532 10056069 CV199531 NM_001267550.2(TTN):c.21276C>T (p.Thr7092=) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20220118 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:25741868|PMID:26467025|PMID:28492532 10056070 CV199494 NM_001267550.2(TTN):c.24506-16T>C variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:28492532 10056071 CV199462 NM_001267550.2(TTN):c.28677C>T (p.Asn9559=) variant DOID:0081341 congenital myopathy 5 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, early-onset, with fatal cardiomyopathy PMID:25741868|PMID:28492532 10056071 CV199462 NM_001267550.2(TTN):c.28677C>T (p.Asn9559=) variant DOID:0110283 autosomal recessive limb-girdle muscular dystrophy type 2J IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2J PMID:25741868|PMID:28492532 10056071 CV199462 NM_001267550.2(TTN):c.28677C>T (p.Asn9559=) variant DOID:0110430 dilated cardiomyopathy 1G IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1G PMID:25741868|PMID:28492532 10056071 CV199462 NM_001267550.2(TTN):c.28677C>T (p.Asn9559=) variant DOID:0111078 tibial muscular dystrophy IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Tibial muscular dystrophy PMID:25741868|PMID:28492532 10056071 CV199462 NM_001267550.2(TTN):c.28677C>T (p.Asn9559=) variant DOID:0111188 myofibrillar myopathy 9 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure PMID:25741868|PMID:28492532 10056072 CV199794 NM_000235.4(LIPA):c.894G>A (p.Gln298=) variant DOID:0080217 lysosomal acid lipase deficiency IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Lysosomal acid lipase deficiency PMID:10562460|PMID:16255772|PMID:17576681|PMID:21757691|PMID:22227072|PMID:22795295|PMID:23424026|PMID:23485521|PMID:24072694|PMID:25722898|PMID:25741868|PMID:25852113|PMID:26225414|PMID:26350820|PMID:28220406|PMID:28492532|PMID:28502505|PMID:28502515|PMID:29958253|PMID:31182375|PMID:31392116|PMID:32058863|PMID:7751811|PMID:7759067|PMID:8254026|PMID:8598644|PMID:8617513|PMID:9536098|PMID:9684740 10056072 CV199794 NM_000235.4(LIPA):c.894G>A (p.Gln298=) variant DOID:14497 Wolman disease IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Wolman disease PMID:10562460|PMID:16255772|PMID:17576681|PMID:21757691|PMID:22227072|PMID:22795295|PMID:23424026|PMID:23485521|PMID:24072694|PMID:25722898|PMID:25741868|PMID:25852113|PMID:26225414|PMID:26350820|PMID:28220406|PMID:28492532|PMID:28502505|PMID:28502515|PMID:29958253|PMID:31182375|PMID:31392116|PMID:32058863|PMID:7751811|PMID:7759067|PMID:8254026|PMID:8598644|PMID:8617513|PMID:9536098|PMID:9684740 10056072 CV199794 NM_000235.4(LIPA):c.894G>A (p.Gln298=) variant DOID:14502 cholesterol ester storage disease IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Cholesteryl ester storage disease PMID:10562460|PMID:16255772|PMID:17576681|PMID:21757691|PMID:22227072|PMID:22795295|PMID:23424026|PMID:23485521|PMID:24072694|PMID:25722898|PMID:25741868|PMID:25852113|PMID:26225414|PMID:26350820|PMID:28220406|PMID:28492532|PMID:28502505|PMID:28502515|PMID:29958253|PMID:31182375|PMID:31392116|PMID:32058863|PMID:7751811|PMID:7759067|PMID:8254026|PMID:8598644|PMID:8617513|PMID:9536098|PMID:9684740 10056072 CV199794 NM_000235.4(LIPA):c.894G>A (p.Gln298=) variant DOID:9004186 Wolman Disease with Hypolipoproteinemia and Acanthocytosis IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Wolman disease with hypolipoproteinemia and acanthocytosis PMID:10562460|PMID:16255772|PMID:17576681|PMID:21757691|PMID:22227072|PMID:22795295|PMID:23424026|PMID:23485521|PMID:24072694|PMID:25722898|PMID:25741868|PMID:25852113|PMID:26225414|PMID:26350820|PMID:28220406|PMID:28492532|PMID:28502505|PMID:28502515|PMID:29958253|PMID:31182375|PMID:31392116|PMID:32058863|PMID:7751811|PMID:7759067|PMID:8254026|PMID:8598644|PMID:8617513|PMID:9536098|PMID:9684740 10056073 CV199793 NM_007055.4(POLR3A):c.3436G>A (p.Ala1146Thr) variant DOID:0060794 hypomyelinating leukodystrophy 7 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, with hypodontia and hypogonadotropic hypogonadism PMID:28492532 10056073 CV199793 NM_007055.4(POLR3A):c.3436G>A (p.Ala1146Thr) variant DOID:0081333 Wiedemann-Rautenstrauch syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: POLR3A-related disorders PMID:28492532 10056074 CV199805 NM_016239.4(MYO15A):c.3311dup (p.Gly1104_Glu1105insTer) variant DOID:0110488 autosomal recessive nonsyndromic deafness 3 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 3 PMID:17546645|PMID:25741868|PMID:26302205|PMID:26467025|PMID:26969326|PMID:28000701|PMID:28492532|PMID:29907799 10056075 CV199806 NM_016239.4(MYO15A):c.5925G>A (p.Trp1975Ter) variant DOID:0110488 autosomal recessive nonsyndromic deafness 3 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 3 PMID:10552926|PMID:22736430|PMID:22903915|PMID:25741868|PMID:26467025|PMID:26969326|PMID:28492532|PMID:29907799|PMID:30096381|PMID:31053783|PMID:31130284 10056076 CV199787 NM_004415.4(DSP):c.274-3C>G variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 8 10056077 CV199810 NM_003098.3(SNTA1):c.1204C>T (p.Arg402Trp) variant DOID:0110653 long QT syndrome 12 IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Long QT syndrome 12 PMID:25741868|PMID:28492532 10056077 CV199810 NM_003098.3(SNTA1):c.1204C>T (p.Arg402Trp) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 10056078 CV199792 NM_001609.4(ACADSB):c.303+1G>A variant DOID:9003149 2-Methylbutyryl-CoA Dehydrogenase Deficiency IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Deficiency of 2-methylbutyryl-CoA dehydrogenase PMID:16199547|PMID:20547083|PMID:25741868|PMID:26284228|PMID:28492532|PMID:30730842|PMID:31980526|PMID:33727708 10056079 CV199804 NM_012452.3(TNFRSF13B):c.492C>G (p.Tyr164Ter) variant DOID:0081145 common variable immunodeficiency 2 IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Immunodeficiency, common variable, 2 PMID:16007087|PMID:18981294|PMID:25741868|PMID:27123465|PMID:28492532 10056079 CV199804 NM_012452.3(TNFRSF13B):c.492C>G (p.Tyr164Ter) variant DOID:9001895 Immunoglobulin A Deficiency 2 IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Immunoglobulin A deficiency 2 PMID:16007087|PMID:18981294|PMID:25741868|PMID:27123465|PMID:28492532 10056080 CV199801 NM_025137.4(SPG11):c.1270C>A (p.Pro424Thr) variant DOID:0060197 amyotrophic lateral sclerosis type 5 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 5 PMID:25741868|PMID:28492532 10056080 CV199801 NM_025137.4(SPG11):c.1270C>A (p.Pro424Thr) variant DOID:0110176 Charcot-Marie-Tooth disease axonal type 2X IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2X PMID:25741868|PMID:28492532 10056080 CV199801 NM_025137.4(SPG11):c.1270C>A (p.Pro424Thr) variant DOID:0110764 hereditary spastic paraplegia 11 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Spastic paraplegia 11, autosomal recessive PMID:25741868|PMID:28492532 10056080 CV199801 NM_025137.4(SPG11):c.1270C>A (p.Pro424Thr) variant DOID:2476 hereditary spastic paraplegia IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia PMID:25741868|PMID:28492532 10056080 CV199801 NM_025137.4(SPG11):c.1270C>A (p.Pro424Thr) variant DOID:630 genetic disease IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10056081 CV199809 NM_001145809.2(MYH14):c.3629G>A (p.Arg1210Gln) variant DOID:0110573 autosomal dominant nonsyndromic deafness 4A IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 4A 10056082 CV199783 NM_194248.3(OTOF):c.2034_2042dup (p.676_678AGD[3]) variant DOID:0110535 autosomal recessive nonsyndromic deafness 9 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 9 10056083 CV199799 NM_007129.5(ZIC2):c.1245T>G (p.His415Gln) variant DOID:0110878 holoprosencephaly 5 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Holoprosencephaly 5 PMID:19177455|PMID:19955556 10056084 CV199802 NM_002474.3(MYH11):c.5213T>C (p.Ile1738Thr) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections PMID:25741868|PMID:28492532 10056084 CV199802 NM_002474.3(MYH11):c.5213T>C (p.Ile1738Thr) variant DOID:9000664 Familial Thoracic Aortic Aneurysm 4 IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Aortic aneurysm/aortic dissection and patent ductus arteriosus PMID:25741868|PMID:28492532 10056085 CV199780 NM_001035.3(RYR2):c.2306G>T (p.Arg769Leu) variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia, catecholaminergic polymorphic, 1 10056086 CV199788 NM_001101.5(ACTB):c.123+1G>A variant DOID:0081112 Baraitser-Winter syndrome 1 IAGP D RGD:8554872 20190108 ClinVar ClinVar Annotator: match by term: Iris coloboma with ptosis, hypertelorism, and mental retardation 10056087 CV199785 NM_020745.4(AARS2):c.1660C>T (p.Arg554Cys) variant DOID:0111479 combined oxidative phosphorylation deficiency 8 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: CARDIOMYOPATHY, HYPERTROPHIC MITOCHONDRIAL, FATAL INFANTILE PMID:25741868|PMID:28492532 10056088 CV199813 NM_004493.3(HSD17B10):c.218C>G (p.Thr73Arg) variant DOID:0060810 syndromic X-linked intellectual disability type 10 IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: 2-methyl-3-hydroxybutyric aciduria 10056090 CV199811 NM_001372044.2(SHANK3):c.542A>C (p.Gln181Pro) variant DOID:0080354 Phelan-McDermid syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: 22q13.3 deletion syndrome 10056091 CV199812 NM_001372044.2(SHANK3):c.1040A>G (p.Tyr347Cys) variant DOID:0080354 Phelan-McDermid syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: 22q13.3 deletion syndrome 10056092 CV199803 NM_001089.3(ABCA3):c.875A>T (p.Glu292Val) variant DOID:0050156 idiopathic pulmonary fibrosis IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 PMID:15976379|PMID:17597647|PMID:18246475|PMID:18317237|PMID:18603241|PMID:18676873|PMID:22145626|PMID:22304854|PMID:22434821|PMID:22435821|PMID:22800827|PMID:22866751|PMID:23166334|PMID:23625987|PMID:24033266|PMID:24136335|PMID:24871971|PMID:25073622|PMID:25553246|PMID:25741868|PMID:27374344|PMID:27516224|PMID:28034695|PMID:28492532|PMID:29431110|PMID:29505158|PMID:29566461|PMID:30609409|PMID:30755392|PMID:31589614|PMID:31980526|PMID:32238781|PMID:32692933|PMID:33110422|PMID:33526094|PMID:34132118|PMID:34715861|PMID:35170262|PMID:35626240 10056092 CV199803 NM_001089.3(ABCA3):c.875A>T (p.Glu292Val) variant DOID:0060971 interstitial lung disease 2 IAGP D RGD:8554872 20240702 ClinVar ClinVar Annotator: match by term: Interstitial lung disease 2 PMID:15976379|PMID:17597647|PMID:18246475|PMID:18317237|PMID:18603241|PMID:18676873|PMID:22145626|PMID:22304854|PMID:22434821|PMID:22435821|PMID:22800827|PMID:22866751|PMID:23166334|PMID:23625987|PMID:24033266|PMID:24136335|PMID:24871971|PMID:25073622|PMID:25553246|PMID:25741868|PMID:27374344|PMID:27516224|PMID:28034695|PMID:28492532|PMID:29431110|PMID:29505158|PMID:29566461|PMID:30609409|PMID:30755392|PMID:31589614|PMID:31980526|PMID:32238781|PMID:32692933|PMID:33110422|PMID:33526094|PMID:34132118|PMID:34715861|PMID:35170262|PMID:35626240 10056092 CV199803 NM_001089.3(ABCA3):c.875A>T (p.Glu292Val) variant DOID:5641 diffuse pulmonary fibrosis IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Diffuse interstitial pulmonary fibrosis PMID:15976379|PMID:17597647|PMID:18246475|PMID:18317237|PMID:18603241|PMID:18676873|PMID:22145626|PMID:22304854|PMID:22434821|PMID:22435821|PMID:22800827|PMID:22866751|PMID:23166334|PMID:23625987|PMID:24033266|PMID:24136335|PMID:24871971|PMID:25073622|PMID:25553246|PMID:25741868|PMID:27374344|PMID:27516224|PMID:28034695|PMID:28492532|PMID:29431110|PMID:29505158|PMID:29566461|PMID:30609409|PMID:30755392|PMID:31589614|PMID:31980526|PMID:32238781|PMID:32692933|PMID:33110422|PMID:33526094|PMID:34132118|PMID:34715861|PMID:35170262|PMID:35626240 10056092 CV199803 NM_001089.3(ABCA3):c.875A>T (p.Glu292Val) variant DOID:9000122 Pulmonary Surfactant Metabolism Dysfunction 3 IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies PMID:15976379|PMID:17597647|PMID:18246475|PMID:18317237|PMID:18603241|PMID:18676873|PMID:22145626|PMID:22304854|PMID:22434821|PMID:22435821|PMID:22800827|PMID:22866751|PMID:23166334|PMID:23625987|PMID:24033266|PMID:24136335|PMID:24871971|PMID:25073622|PMID:25553246|PMID:25741868|PMID:27374344|PMID:27516224|PMID:28034695|PMID:28492532|PMID:29431110|PMID:29505158|PMID:29566461|PMID:30609409|PMID:30755392|PMID:31589614|PMID:31980526|PMID:32238781|PMID:32692933|PMID:33110422|PMID:33526094|PMID:34132118|PMID:34715861|PMID:35170262|PMID:35626240 10056092 CV199803 NM_001089.3(ABCA3):c.875A>T (p.Glu292Val) variant DOID:9003953 Surfactant Dysfunction IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Pulmonary surfactant metabolism dysfunction PMID:15976379|PMID:17597647|PMID:18246475|PMID:18317237|PMID:18603241|PMID:18676873|PMID:22145626|PMID:22304854|PMID:22434821|PMID:22435821|PMID:22800827|PMID:22866751|PMID:23166334|PMID:23625987|PMID:24033266|PMID:24136335|PMID:24871971|PMID:25073622|PMID:25553246|PMID:25741868|PMID:27374344|PMID:27516224|PMID:28034695|PMID:28492532|PMID:29431110|PMID:29505158|PMID:29566461|PMID:30609409|PMID:30755392|PMID:31589614|PMID:31980526|PMID:32238781|PMID:32692933|PMID:33110422|PMID:33526094|PMID:34132118|PMID:34715861|PMID:35170262|PMID:35626240 10056094 CV199784 NM_003764.4(STX11):c.391C>T (p.Gln131Ter) variant DOID:0110924 familial hemophagocytic lymphohistiocytosis 4 IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 PMID:16582076|PMID:17525286|PMID:25741868|PMID:28492532 10056096 CV199808 NM_004247.4(EFTUD2):c.764dup (p.Cys256fs) variant DOID:0080196 mandibulofacial dysostosis, Guion-Almeida type IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate 10056097 CV199790 NM_015404.4(WHRN):c.2027C>G (p.Pro676Arg) variant DOID:0110490 autosomal recessive nonsyndromic deafness 31 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 31 PMID:24033266|PMID:28492532|PMID:30311386 10056097 CV199790 NM_015404.4(WHRN):c.2027C>G (p.Pro676Arg) variant DOID:0110840 Usher syndrome type 2D IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: USHER SYNDROME, TYPE IID PMID:24033266|PMID:28492532|PMID:30311386 10056097 CV199790 NM_015404.4(WHRN):c.2027C>G (p.Pro676Arg) variant DOID:9004538 Hearing Loss IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Hearing impairment PMID:24033266|PMID:28492532|PMID:30311386 10056098 CV199795 NM_001292063.2(OTOG):c.6967C>T (p.Arg2323Trp) variant DOID:0110474 autosomal recessive nonsyndromic deafness 18B IAGP D RGD:8554872 20180508 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 18b PMID:24033266 10056099 CV199807 NM_016239.4(MYO15A):c.10054G>A (p.Ala3352Thr) variant DOID:0110488 autosomal recessive nonsyndromic deafness 3 IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 3 PMID:28492532 10056100 CV199789 NM_000466.3(PEX1):c.3379dup (p.Arg1127fs) variant DOID:0080476 peroxisome biogenesis disorder 1A IAGP D RGD:8554872 20190709 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1A (Zellweger) 10056100 CV199789 NM_000466.3(PEX1):c.3379dup (p.Arg1127fs) variant DOID:0081240 peroxisome biogenesis disorder 1B IAGP D RGD:8554872 20221004 ClinVar ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1B 10056102 CV199798 NM_032193.4(RNASEH2C):c.178dup (p.Glu60fs) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10056102 CV199798 NM_032193.4(RNASEH2C):c.178dup (p.Glu60fs) variant DOID:9008004 Aicardi-Goutieres Syndrome 3 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Aicardi Goutieres syndrome 3 PMID:28492532 10056103 CV199797 NM_032193.4(RNASEH2C):c.434G>C (p.Arg145Pro) variant DOID:9008004 Aicardi-Goutieres Syndrome 3 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Aicardi Goutieres syndrome 3 10056104 CV199796 NM_005609.4(PYGM):c.1094C>T (p.Ala365Val) variant DOID:2746 glycogen storage disease V IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Myophosphorylase deficiency PMID:16786513|PMID:17221871|PMID:17630210|PMID:21802952|PMID:22250184|PMID:25741863|PMID:25741868|PMID:28492532|PMID:28967462|PMID:29143597|PMID:29881221|PMID:37769369 10056105 CV199786 NM_012434.5(SLC17A5):c.409del (p.Met137fs) variant DOID:3659 sialuria IAGP D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Sialic acid storage disease PMID:10581036|PMID:10947946|PMID:15172001|PMID:15805149|PMID:25741868|PMID:28492532 10056105 CV199786 NM_012434.5(SLC17A5):c.409del (p.Met137fs) variant DOID:9000742 Free Sialic Acid Storage Disease IAGP D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: N-acetylneuraminic acid (NANA) storage disease (NSD) PMID:10581036|PMID:10947946|PMID:15172001|PMID:15805149|PMID:25741868|PMID:28492532 10056105 CV199786 NM_012434.5(SLC17A5):c.409del (p.Met137fs) variant DOID:9003820 Infantile Sialic Storage Disease IAGP D RGD:8554872 20211207 ClinVar ClinVar Annotator: match by term: Infantile sialic acid storage disorder (ISSD) PMID:10581036|PMID:10947946|PMID:15172001|PMID:15805149|PMID:25741868|PMID:28492532 10056106 CV181585 NM_000245.4(MET):c.2521T>G (p.Phe841Val) variant DOID:0050563 nonsyndromic deafness IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive PMID:25941349 10056106 CV181585 NM_000245.4(MET):c.2521T>G (p.Phe841Val) variant DOID:0110539 autosomal recessive nonsyndromic deafness 97 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 97 PMID:25941349 10056107 CV185731 NM_000314.8(PTEN):c.545T>C (p.Leu182Ser) variant DOID:0050657 Cowden syndrome 1 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Cowden syndrome 1 PMID:25741868 10056107 CV185731 NM_000314.8(PTEN):c.545T>C (p.Leu182Ser) variant DOID:0060867 macrocephaly-autism syndrome IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Macrocephaly-autism syndrome PMID:25741868 10056108 CV181519 NM_172362.3(KCNH1):c.1135C>G (p.Leu379Val) variant DOID:9002680 Zimmermann-Laband Syndrome 1 IAGP D RGD:8554872 20191203 ClinVar ClinVar Annotator: match by term: Zimmermann-Laband syndrome 1 PMID:23994350|PMID:25915598 10056109 CV199853 NM_013254.4(TBK1):c.2086G>A (p.Glu696Lys) variant DOID:0110069 frontotemporal dementia and/or amyotrophic lateral sclerosis 4 IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 PMID:25803835|PMID:25943890|PMID:38517332 10056110 CV199854 NM_013254.4(TBK1):c.1201A>G (p.Lys401Glu) variant DOID:0110069 frontotemporal dementia and/or amyotrophic lateral sclerosis 4 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 PMID:23453972|PMID:25741868|PMID:25943890|PMID:27892983|PMID:31748271 10056111 CV199855 NM_001693.4(ATP6V1B2):c.1516C>T (p.Arg506Ter) variant DOID:0080720 autosomal dominant congenital deafness with onychodystrophy IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Deafness, congenital, with onychodystrophy, autosomal dominant PMID:24913193|PMID:25741868|PMID:28396750|PMID:31581539|PMID:31655144 10056111 CV199855 NM_001693.4(ATP6V1B2):c.1516C>T (p.Arg506Ter) variant DOID:9008174 Zimmermann-Laband Syndrome 2 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Zimmermann-Laband syndrome 2 PMID:24913193|PMID:25741868|PMID:28396750|PMID:31581539|PMID:31655144 10056112 CV181522 NM_001693.4(ATP6V1B2):c.1454G>C (p.Arg485Pro) variant DOID:9002680 Zimmermann-Laband Syndrome 1 IAGP D RGD:8554872 20191203 ClinVar ClinVar Annotator: match by term: Zimmermann-Laband syndrome 1 PMID:18541964|PMID:23994350|PMID:25915598 10056112 CV181522 NM_001693.4(ATP6V1B2):c.1454G>C (p.Arg485Pro) variant DOID:9008174 Zimmermann-Laband Syndrome 2 IAGP D RGD:8554872 20191203 ClinVar ClinVar Annotator: match by term: Zimmermann-Laband syndrome 2 PMID:18541964|PMID:23994350|PMID:25915598 10056113 CV199858 NM_030973.4(MED25):c.116A>G (p.Tyr39Cys) variant DOID:9005442 Basel-Vanagaite-Smirin-Yosef syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Basel-Vanagaite-Smirin-Yosef syndrome PMID:25792360 10056114 CV199867 NM_002087.4(GRN):c.462+1G>C variant DOID:9255 frontotemporal dementia IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:23463024 10056115 CV199869 NM_002087.4(GRN):c.882T>G (p.Tyr294Ter) variant DOID:0060672 frontotemporal dementia 2 IAGP D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Grn-related frontotemporal lobar degeneration with Tdp43 inclusions PMID:23463024 10056115 CV199869 NM_002087.4(GRN):c.882T>G (p.Tyr294Ter) variant DOID:9255 frontotemporal dementia IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:23463024 10056116 CV199870 NM_002087.4(GRN):c.1212C>A (p.Cys404Ter) variant DOID:9255 frontotemporal dementia IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia 10056117 CV199871 NM_002087.4(GRN):c.1246dup (p.Cys416fs) variant DOID:9255 frontotemporal dementia IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:23463024 10056118 CV199866 NM_002087.4(GRN):c.87dup (p.Cys30fs) variant DOID:0060672 frontotemporal dementia 2 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Grn-related frontotemporal lobar degeneration with Tdp43 inclusions PMID:16862116|PMID:16950801|PMID:22608501|PMID:28492532|PMID:29724592|PMID:30992141 10056118 CV199866 NM_002087.4(GRN):c.87dup (p.Cys30fs) variant DOID:9255 frontotemporal dementia IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:16862116|PMID:16950801|PMID:22608501|PMID:28492532|PMID:29724592|PMID:30992141 10056119 CV199868 NM_002087.4(GRN):c.708+1G>A variant DOID:0060672 frontotemporal dementia 2 IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: GRN-related frontotemporal lobar degeneration with Tdp43 inclusions PMID:16199547|PMID:16862116|PMID:16950801|PMID:17030534|PMID:22608501|PMID:23463024|PMID:25741868|PMID:28430294|PMID:28492532|PMID:28749476|PMID:30054184|PMID:30992141 10056119 CV199868 NM_002087.4(GRN):c.708+1G>A variant DOID:9255 frontotemporal dementia IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Frontotemporal dementia PMID:16199547|PMID:16862116|PMID:16950801|PMID:17030534|PMID:22608501|PMID:23463024|PMID:25741868|PMID:28430294|PMID:28492532|PMID:28749476|PMID:30054184|PMID:30992141 10056120 CV199872 NM_032415.7(CARD11):c.146G>A (p.Cys49Tyr) variant DOID:0111957 immunodeficiency 11A IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARD11 deficiency PMID:23149938|PMID:25930198|PMID:28492532|PMID:29472930 10056120 CV199872 NM_032415.7(CARD11):c.146G>A (p.Cys49Tyr) variant DOID:9005199 B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: B-cell expansion with NFKB and T-cell anergy PMID:23149938|PMID:25930198|PMID:28492532|PMID:29472930 10056121 CV199874 NM_015425.6(POLR1A):c.1777G>C (p.Glu593Gln) variant DOID:0060353 acrofacial dysostosis Cincinnati type IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Acrofacial dysostosis, Cincinnati type PMID:25913037 10056122 CV199880 NM_000165.5(GJA1):c.131C>T (p.Ala44Val) variant DOID:0080249 erythrokeratodermia variabilis et progressiva 3 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 3 PMID:25398053|PMID:28492532|PMID:30628963|PMID:30631135 10056122 CV199880 NM_000165.5(GJA1):c.131C>T (p.Ala44Val) variant DOID:9004641 Oculodentodigital Dysplasia, Autosomal Recessive IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Oculodentodigital dysplasia, autosomal recessive PMID:25398053|PMID:28492532|PMID:30628963|PMID:30631135 10056123 CV199883 NM_002470.4(MYH3):c.3224A>C (p.Gln1075Pro) variant DOID:0081321 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Distal arthrogryposis type 8 PMID:25957469 10056124 CV199890 NM_003239.5(TGFB3):c.898C>T (p.Arg300Trp) variant DOID:0070236 Loeys-Dietz syndrome 5 IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Rienhoff syndrome PMID:24798638|PMID:25136781|PMID:25741868|PMID:25835445|PMID:26184463|PMID:27848944|PMID:28492532|PMID:29392890|PMID:31898322|PMID:7737999 10056124 CV199890 NM_003239.5(TGFB3):c.898C>T (p.Arg300Trp) variant DOID:14004 thoracic aortic aneurysm IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection PMID:24798638|PMID:25136781|PMID:25741868|PMID:25835445|PMID:26184463|PMID:27848944|PMID:28492532|PMID:29392890|PMID:31898322|PMID:7737999 10056125 CV199892 NM_003239.5(TGFB3):c.787G>C (p.Asp263His) variant DOID:0070236 Loeys-Dietz syndrome 5 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Rienhoff syndrome PMID:25835445 10056125 CV199892 NM_003239.5(TGFB3):c.787G>C (p.Asp263His) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25835445 10056126 CV199917 NM_000417.3(IL2RA):c.497G>A (p.Ser166Asn) variant DOID:0111968 immunodeficiency 41 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Interleukin 2 receptor, alpha, deficiency of PMID:23416241 10056127 CV199918 NM_000417.3(IL2RA):c.122A>C (p.Tyr41Ser) variant DOID:0111968 immunodeficiency 41 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Interleukin 2 receptor, alpha, deficiency of PMID:24116927 10056128 CV199933 NM_145207.3(AFG2A):c.2079+6G>A variant DOID:9004336 neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities IAGP D RGD:8554872 20220208 ClinVar ClinVar Annotator: match by term: Epilepsy, hearing loss, and mental retardation syndrome PMID:25741868|PMID:26467025|PMID:28492532 10056129 CV199969 NM_000016.6(ACADM):c.86G>T (p.Arg29Leu) variant DOID:0080153 medium chain acyl-CoA dehydrogenase deficiency IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Medium-chain acyl-coenzyme A dehydrogenase deficiency PMID:20434380|PMID:25741868|PMID:28492532 10056130 CV199980 NM_000016.6(ACADM):c.1012C>G (p.Gln338Glu) variant DOID:0080153 medium chain acyl-CoA dehydrogenase deficiency IAGP D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Medium-chain acyl-coenzyme A dehydrogenase deficiency PMID:28492532 10056131 CV199981 NM_000016.6(ACADM):c.1052C>T (p.Thr351Ile) variant DOID:0080153 medium chain acyl-CoA dehydrogenase deficiency IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Medium-chain acyl-coenzyme A dehydrogenase deficiency PMID:25741868|PMID:26798524|PMID:28492532 10056132 CV199982 NM_000016.6(ACADM):c.1247T>C (p.Ile416Thr) variant DOID:0080153 medium chain acyl-CoA dehydrogenase deficiency IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Medium-chain acyl-coenzyme A dehydrogenase deficiency PMID:20434380|PMID:23430840|PMID:23842438|PMID:25741868|PMID:26947917|PMID:27856190|PMID:28492532|PMID:31737040|PMID:32778825 10056134 CV200235 NM_000017.4(ACADS):c.656C>T (p.Thr219Met) variant DOID:0080154 short chain acyl-CoA dehydrogenase deficiency IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase PMID:25741868|PMID:28492532 10056137 CV200232 NM_000017.4(ACADS):c.47C>T (p.Ala16Val) variant DOID:0080154 short chain acyl-CoA dehydrogenase deficiency IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase PMID:28492532 10056138 CV200317 NM_000018.4(ACADVL):c.260T>C (p.Val87Ala) variant DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:25741868|PMID:28492532|PMID:30194637 10056139 CV200324 NM_000018.4(ACADVL):c.818G>C (p.Gly273Ala) variant DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:24503138|PMID:25741868|PMID:26385305|PMID:28492532|PMID:32778825 10056140 CV200330 NM_000018.4(ACADVL):c.947G>A (p.Arg316Gln) variant DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:25741868|PMID:26385305|PMID:28492532 10056141 CV200334 NM_000018.4(ACADVL):c.1127T>C (p.Phe376Ser) variant DOID:0080155 very long chain acyl-CoA dehydrogenase deficiency IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency PMID:25741868|PMID:28492532|PMID:28755359|PMID:31031081 10056144 CV200304 NM_001243279.3(ACSF3):c.29G>A (p.Arg10Gln) variant DOID:0111263 combined malonic and methylmalonic acidemia IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Combined malonic and methylmalonic acidemia PMID:28492532 10056144 CV200304 NM_001243279.3(ACSF3):c.29G>A (p.Arg10Gln) variant DOID:14749 methylmalonic acidemia IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Methylmalonic acidemia PMID:28492532 10056146 CV200311 NM_001243279.3(ACSF3):c.1406G>A (p.Arg469Gln) variant DOID:0111263 combined malonic and methylmalonic acidemia IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Combined malonic and methylmalonic aciduria PMID:25741868|PMID:28492532 10056146 CV200311 NM_001243279.3(ACSF3):c.1406G>A (p.Arg469Gln) variant DOID:630 genetic disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10056148 CV200303 NM_001243279.3(ACSF3):c.28C>T (p.Arg10Trp) variant DOID:0111263 combined malonic and methylmalonic acidemia IAGP D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Combined malonic and methylmalonic acidemia PMID:25741868|PMID:28492532|PMID:34547244 10056149 CV200309 NM_001243279.3(ACSF3):c.673G>A (p.Gly225Arg) variant DOID:0111263 combined malonic and methylmalonic acidemia IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Combined malonic and methylmalonic aciduria 10056150 CV200305 NM_001243279.3(ACSF3):c.119C>T (p.Ser40Leu) variant DOID:0111263 combined malonic and methylmalonic acidemia IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Combined malonic and methylmalonic acidemia PMID:28492532 10056150 CV200305 NM_001243279.3(ACSF3):c.119C>T (p.Ser40Leu) variant DOID:14749 methylmalonic acidemia IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Methylmalonic acidemia PMID:28492532 10056151 CV200153 NM_000048.4(ASL):c.614C>T (p.Ala205Val) variant DOID:14755 argininosuccinic aciduria IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Argininosuccinate lyase deficiency PMID:24166829|PMID:25741868|PMID:28492532 10056152 CV200155 NM_000048.4(ASL):c.688A>G (p.Met230Val) variant DOID:14755 argininosuccinic aciduria IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Argininosuccinate lyase deficiency PMID:25741868|PMID:28492532 10056155 CV200147 NM_000048.4(ASL):c.392C>T (p.Thr131Met) variant DOID:14755 argininosuccinic aciduria IAGP D RGD:8554872 20201110 ClinVar ClinVar Annotator: match by term: Argininosuccinate lyase deficiency PMID:12384776|PMID:25087612|PMID:25741868|PMID:28492532 10056156 CV200179 NM_054012.4(ASS1):c.675C>T (p.Ile225=) variant DOID:0070340 classic citrullinemia IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Citrullinemia type I PMID:25741868|PMID:28492532 10056156 CV200179 NM_054012.4(ASS1):c.675C>T (p.Ile225=) variant DOID:9273 citrullinemia IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Citrullinemia PMID:25741868|PMID:28492532 10056157 CV200175 NM_054012.4(ASS1):c.14G>C (p.Gly5Ala) variant DOID:0070340 classic citrullinemia IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Citrullinemia type I PMID:28492532 10056157 CV200175 NM_054012.4(ASS1):c.14G>C (p.Gly5Ala) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10056157 CV200175 NM_054012.4(ASS1):c.14G>C (p.Gly5Ala) variant DOID:9273 citrullinemia IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Citrullinuria PMID:28492532 10056160 CV199988 NM_001875.5(CPS1):c.486T>C (p.Tyr162=) variant DOID:9280 carbamoyl phosphate synthetase I deficiency disease IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Congenital hyperammonemia, type I PMID:25741868|PMID:28492532 10056161 CV199989 NM_001875.5(CPS1):c.1214C>A (p.Thr405Asn) variant DOID:9280 carbamoyl phosphate synthetase I deficiency disease IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Congenital hyperammonemia, type I PMID:25741868|PMID:28492532 10056162 CV199993 NM_001875.5(CPS1):c.4275-10A>G variant DOID:9280 carbamoyl phosphate synthetase I deficiency disease IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Congenital hyperammonemia, type I PMID:25741868|PMID:28492532 10056163 CV199986 NM_001875.5(CPS1):c.-4_-3insTTC variant DOID:9280 carbamoyl phosphate synthetase I deficiency disease IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Congenital hyperammonemia, type I PMID:25741868 10056164 CV200221 NM_001876.4(CPT1A):c.240G>A (p.Ser80=) variant DOID:0090129 carnitine palmitoyltransferase I deficiency IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Carnitine palmitoyl transferase 1A deficiency PMID:25741868|PMID:28492532 10056165 CV200219 NM_001876.4(CPT1A):c.1941C>G (p.Ala647=) variant DOID:0090129 carnitine palmitoyltransferase I deficiency IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Carnitine palmitoyl transferase 1A deficiency PMID:25741868|PMID:28492532 10056166 CV200218 NM_001876.4(CPT1A):c.2004T>C (p.Ala668=) variant DOID:0090129 carnitine palmitoyltransferase I deficiency IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Carnitine palmitoyl transferase 1A deficiency PMID:25741868|PMID:28492532 10056167 CV200220 NM_001876.4(CPT1A):c.863G>A (p.Arg288Gln) variant DOID:0090129 carnitine palmitoyltransferase I deficiency IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Carnitine palmitoyl transferase 1A deficiency PMID:25741868|PMID:28492532 10056168 CV199963 NM_000098.3(CPT2):c.1336G>A (p.Val446Ile) variant DOID:0060235 carnitine palmitoyltransferase II deficiency IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency PMID:25741868|PMID:28492532 10056168 CV199963 NM_000098.3(CPT2):c.1336G>A (p.Val446Ile) variant DOID:9001501 Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, lethal neonatal PMID:25741868|PMID:28492532 10056168 CV199963 NM_000098.3(CPT2):c.1336G>A (p.Val446Ile) variant DOID:9007623 Late-Onset Carnitine Palmitoyltransferase II Deficiency IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced PMID:25741868|PMID:28492532 10056168 CV199963 NM_000098.3(CPT2):c.1336G>A (p.Val446Ile) variant DOID:9007668 Carnitine Palmitoyltransferase II Deficiency, Infantile IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, infantile PMID:25741868|PMID:28492532 10056168 CV199963 NM_000098.3(CPT2):c.1336G>A (p.Val446Ile) variant DOID:936 brain disease IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced, susceptibility to, 4 PMID:25741868|PMID:28492532 10056169 CV199965 NM_000098.3(CPT2):c.1598T>C (p.Val533Ala) variant DOID:0060235 carnitine palmitoyltransferase II deficiency IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency PMID:26467025|PMID:28492532 10056169 CV199965 NM_000098.3(CPT2):c.1598T>C (p.Val533Ala) variant DOID:9009375 Encephalopathy, acute, infection-induced, 4 IAGP D RGD:8554872 20250821 ClinVar ClinVar Annotator: match by term: CPT2-related disorder PMID:26467025|PMID:28492532 10056170 CV199968 NM_000098.3(CPT2):c.1964C>A (p.Ser655Tyr) variant DOID:0060235 carnitine palmitoyltransferase II deficiency IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency PMID:25741868|PMID:28492532 10056170 CV199968 NM_000098.3(CPT2):c.1964C>A (p.Ser655Tyr) variant DOID:630 genetic disease IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10056170 CV199968 NM_000098.3(CPT2):c.1964C>A (p.Ser655Tyr) variant DOID:9001501 Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, lethal neonatal PMID:25741868|PMID:28492532 10056170 CV199968 NM_000098.3(CPT2):c.1964C>A (p.Ser655Tyr) variant DOID:9007623 Late-Onset Carnitine Palmitoyltransferase II Deficiency IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced PMID:25741868|PMID:28492532 10056170 CV199968 NM_000098.3(CPT2):c.1964C>A (p.Ser655Tyr) variant DOID:9007668 Carnitine Palmitoyltransferase II Deficiency, Infantile IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, infantile PMID:25741868|PMID:28492532 10056170 CV199968 NM_000098.3(CPT2):c.1964C>A (p.Ser655Tyr) variant DOID:936 brain disease IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced, susceptibility to, 4 PMID:25741868|PMID:28492532 10056172 CV199957 NM_000098.3(CPT2):c.353A>G (p.Asp118Gly) variant DOID:0060235 carnitine palmitoyltransferase II deficiency IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency PMID:25741868|PMID:28492532 10056172 CV199957 NM_000098.3(CPT2):c.353A>G (p.Asp118Gly) variant DOID:9009375 Encephalopathy, acute, infection-induced, 4 IAGP D RGD:8554872 20250821 ClinVar ClinVar Annotator: match by term: CPT2-related disorder PMID:25741868|PMID:28492532 10056173 CV199938 NM_001918.5(DBT):c.215T>C (p.Ile72Thr) variant DOID:9269 maple syrup urine disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Maple syrup urine disease PMID:28492532 10056174 CV200137 NM_000108.5(DLD):c.675T>C (p.Gly225=) variant DOID:0061204 dihydrolipoamide dehydrogenase deficiency IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Lipoamide dehydrogenase deficiency, lactic acidosis due to PMID:25741868|PMID:28492532 10056175 CV200142 NM_000108.5(DLD):c.869A>G (p.Asp290Gly) variant DOID:0061204 dihydrolipoamide dehydrogenase deficiency IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Lipoamide dehydrogenase deficiency, lactic acidosis due to PMID:25741868|PMID:28492532 10056176 CV200131 NM_000108.5(DLD):c.100A>G (p.Thr34Ala) variant DOID:0061204 dihydrolipoamide dehydrogenase deficiency IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Lipoamide dehydrogenase deficiency, lactic acidosis due to PMID:25741868|PMID:28492532 10056176 CV200131 NM_000108.5(DLD):c.100A>G (p.Thr34Ala) variant DOID:3649 pyruvate decarboxylase deficiency IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency PMID:25741868|PMID:28492532 10056176 CV200131 NM_000108.5(DLD):c.100A>G (p.Thr34Ala) variant DOID:3652 Leigh disease IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:25741868|PMID:28492532 10056181 CV200139 NM_000108.5(DLD):c.763A>C (p.Met255Leu) variant DOID:0061204 dihydrolipoamide dehydrogenase deficiency IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Lipoamide dehydrogenase deficiency, lactic acidosis due to PMID:25741868|PMID:28492532 10056181 CV200139 NM_000108.5(DLD):c.763A>C (p.Met255Leu) variant DOID:3649 pyruvate decarboxylase deficiency IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency PMID:25741868|PMID:28492532 10056181 CV200139 NM_000108.5(DLD):c.763A>C (p.Met255Leu) variant DOID:3652 Leigh disease IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Subacute necrotizing encephalopathy PMID:25741868|PMID:28492532 10056182 CV200140 NM_000108.5(DLD):c.788G>A (p.Arg263His) variant DOID:0061204 dihydrolipoamide dehydrogenase deficiency IAGP D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: LIPOAMIDE DEHYDROGENASE DEFICIENCY, LACTIC ACIDOSIS DUE TO PMID:25741868|PMID:28492532 10056182 CV200140 NM_000108.5(DLD):c.788G>A (p.Arg263His) variant DOID:3649 pyruvate decarboxylase deficiency IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency PMID:25741868|PMID:28492532 10056182 CV200140 NM_000108.5(DLD):c.788G>A (p.Arg263His) variant DOID:3652 Leigh disease IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Leigh syndrome PMID:25741868|PMID:28492532 10056182 CV200140 NM_000108.5(DLD):c.788G>A (p.Arg263His) variant DOID:630 genetic disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10056183 CV200141 NM_000108.5(DLD):c.826A>T (p.Thr276Ser) variant DOID:0061204 dihydrolipoamide dehydrogenase deficiency IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lipoamide dehydrogenase deficiency, lactic acidosis due to PMID:25741868|PMID:28492532 10056184 CV200130 NM_000108.5(DLD):c.82T>C (p.Ser28Pro) variant DOID:0061204 dihydrolipoamide dehydrogenase deficiency IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lipoamide dehydrogenase deficiency, lactic acidosis due to PMID:28492532 10056186 CV200298 NM_000126.4(ETFA):c.186+7A>G variant DOID:0060358 multiple acyl-CoA dehydrogenase deficiency IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 2 PMID:28492532 10056186 CV200298 NM_000126.4(ETFA):c.186+7A>G variant DOID:9001253 Glutaric Aciduria 2 IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Glutaric acidemia type 2A PMID:28492532 10056187 CV200295 NM_000126.4(ETFA):c.533C>G (p.Thr178Arg) variant DOID:0060358 multiple acyl-CoA dehydrogenase deficiency IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency PMID:28492532 10056189 CV200299 NM_000126.4(ETFA):c.20C>T (p.Pro7Leu) variant DOID:0060358 multiple acyl-CoA dehydrogenase deficiency IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency PMID:25741868|PMID:28492532 10056190 CV200297 NM_000126.4(ETFA):c.215G>A (p.Gly72Asp) variant DOID:0060358 multiple acyl-CoA dehydrogenase deficiency IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency PMID:28492532 10056190 CV200297 NM_000126.4(ETFA):c.215G>A (p.Gly72Asp) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10056192 CV200293 NM_000126.4(ETFA):c.826A>C (p.Ile276Leu) variant DOID:0060358 multiple acyl-CoA dehydrogenase deficiency IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency PMID:25741868|PMID:28492532 10056193 CV200358 NM_001985.3(ETFB):c.58-318_58-313dup variant DOID:0060358 multiple acyl-CoA dehydrogenase deficiency IAGP D RGD:8554872 20181206 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 2 10056195 CV200356 NM_001985.3(ETFB):c.58-57dup variant DOID:0060358 multiple acyl-CoA dehydrogenase deficiency IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency PMID:24033266|PMID:25741868 10056196 CV200350 NM_001985.3(ETFB):c.278C>T (p.Pro93Leu) variant DOID:0060358 multiple acyl-CoA dehydrogenase deficiency IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency PMID:25741868|PMID:28492532 10056196 CV200350 NM_001985.3(ETFB):c.278C>T (p.Pro93Leu) variant DOID:630 genetic disease IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10056197 CV200349 NM_001985.3(ETFB):c.292C>T (p.Arg98Cys) variant DOID:0060358 multiple acyl-CoA dehydrogenase deficiency IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency PMID:24215330|PMID:25741868|PMID:28492532 10056197 CV200349 NM_001985.3(ETFB):c.292C>T (p.Arg98Cys) variant DOID:630 genetic disease IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24215330|PMID:25741868|PMID:28492532 10056197 CV200349 NM_001985.3(ETFB):c.292C>T (p.Arg98Cys) variant DOID:784 chronic kidney disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Chronic kidney disease PMID:24215330|PMID:25741868|PMID:28492532 10056198 CV200348 NM_001985.3(ETFB):c.447C>T (p.Phe149=) variant DOID:0060358 multiple acyl-CoA dehydrogenase deficiency IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency PMID:25741868|PMID:28492532 10056199 CV200347 NM_001985.3(ETFB):c.521G>A (p.Arg174His) variant DOID:0060358 multiple acyl-CoA dehydrogenase deficiency IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 2 PMID:25741868|PMID:28492532 10056200 CV200346 NM_001985.3(ETFB):c.709G>A (p.Val237Ile) variant DOID:0060358 multiple acyl-CoA dehydrogenase deficiency IAGP D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 2 PMID:28492532 10056200 CV200346 NM_001985.3(ETFB):c.709G>A (p.Val237Ile) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10056201 CV200351 NM_001985.3(ETFB):c.257G>C (p.Gly86Ala) variant DOID:0060358 multiple acyl-CoA dehydrogenase deficiency IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency PMID:28492532 10056203 CV200078 NM_004453.4(ETFDH):c.1468+15A>C variant DOID:0060358 multiple acyl-CoA dehydrogenase deficiency IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency PMID:28492532 10056204 CV200079 NM_004453.4(ETFDH):c.1480G>C (p.Glu494Gln) variant DOID:0060358 multiple acyl-CoA dehydrogenase deficiency IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency PMID:28492532 10056204 CV200079 NM_004453.4(ETFDH):c.1480G>C (p.Glu494Gln) variant DOID:630 genetic disease IAGP D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10056207 CV200059 NM_004453.4(ETFDH):c.91A>G (p.Thr31Ala) variant DOID:0060358 multiple acyl-CoA dehydrogenase deficiency IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 2 10056207 CV200059 NM_004453.4(ETFDH):c.91A>G (p.Thr31Ala) variant DOID:630 genetic disease IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10056209 CV200068 NM_004453.4(ETFDH):c.572G>A (p.Gly191Asp) variant DOID:0060358 multiple acyl-CoA dehydrogenase deficiency IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency PMID:25741868|PMID:28492532 10056209 CV200068 NM_004453.4(ETFDH):c.572G>A (p.Gly191Asp) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 10056210 CV200184 NM_000155.4(GALT):c.864C>T (p.Asn288=) variant DOID:9870 galactosemia IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Galactosemia PMID:22944367|PMID:25741868|PMID:28492532|PMID:33636947 10056211 CV200183 NM_000155.4(GALT):c.823C>G (p.Leu275Val) variant DOID:9870 galactosemia IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase PMID:25741868|PMID:30718057 10056212 CV200001 NM_000182.5(HADHA):c.573+8dup variant DOID:0061186 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency IAGP D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency PMID:28492532 10056212 CV200001 NM_000182.5(HADHA):c.573+8dup variant DOID:0111277 mitochondrial trifunctional protein deficiency IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Trifunctional protein deficiency with myopathy and neuropathy PMID:28492532 10056213 CV199998 NM_000182.5(HADHA):c.1392+10G>A variant DOID:0061186 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency PMID:25741868|PMID:28492532 10056213 CV199998 NM_000182.5(HADHA):c.1392+10G>A variant DOID:0111277 mitochondrial trifunctional protein deficiency IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Mitochondrial trifunctional protein deficiency PMID:25741868|PMID:28492532 10056214 CV199996 NM_000182.5(HADHA):c.1690-6G>A variant DOID:0061186 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: LCHAD Deficiency PMID:28492532 10056214 CV199996 NM_000182.5(HADHA):c.1690-6G>A variant DOID:0111277 mitochondrial trifunctional protein deficiency IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Mitochondrial trifunctional protein deficiency PMID:28492532 10056215 CV199994 NM_000182.5(HADHA):c.2146+16T>C variant DOID:0061186 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency PMID:25741868|PMID:28492532 10056215 CV199994 NM_000182.5(HADHA):c.2146+16T>C variant DOID:0111277 mitochondrial trifunctional protein deficiency IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Mitochondrial trifunctional protein deficiency PMID:25741868|PMID:28492532 10056216 CV200004 NM_000182.5(HADHA):c.-25C>G variant DOID:0061186 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency 10056218 CV199999 NM_000182.5(HADHA):c.982G>A (p.Gly328Arg) variant DOID:0061186 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency PMID:26109258|PMID:35383965 10056219 CV200006 NM_000183.3(HADHB):c.780C>T (p.Leu260=) variant DOID:0060999 mitochondrial trifunctional protein deficiency 2 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Mitochondrial trifunctional protein deficiency 2 PMID:25741868|PMID:28492532 10056219 CV200006 NM_000183.3(HADHB):c.780C>T (p.Leu260=) variant DOID:0111277 mitochondrial trifunctional protein deficiency IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Mitochondrial trifunctional protein deficiency PMID:25741868|PMID:28492532 10056220 CV200007 NM_000183.3(HADHB):c.812-5A>T variant DOID:0060999 mitochondrial trifunctional protein deficiency 2 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Mitochondrial trifunctional protein deficiency 2 PMID:25741868|PMID:28492532 10056220 CV200007 NM_000183.3(HADHB):c.812-5A>T variant DOID:0111277 mitochondrial trifunctional protein deficiency IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Mitochondrial trifunctional protein deficiency PMID:25741868|PMID:28492532 10056221 CV200008 NM_000183.3(HADHB):c.830A>G (p.Lys277Arg) variant DOID:0060999 mitochondrial trifunctional protein deficiency 2 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Mitochondrial trifunctional protein deficiency 2 PMID:25741868|PMID:28492532 10056221 CV200008 NM_000183.3(HADHB):c.830A>G (p.Lys277Arg) variant DOID:0111277 mitochondrial trifunctional protein deficiency IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Mitochondrial trifunctional protein deficiency PMID:25741868|PMID:28492532 10056222 CV200009 NM_000183.3(HADHB):c.891C>T (p.Ile297=) variant DOID:0060999 mitochondrial trifunctional protein deficiency 2 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Mitochondrial trifunctional protein deficiency 2 PMID:25741868|PMID:28492532 10056222 CV200009 NM_000183.3(HADHB):c.891C>T (p.Ile297=) variant DOID:0111277 mitochondrial trifunctional protein deficiency IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Mitochondrial trifunctional protein deficiency PMID:25741868|PMID:28492532 10056223 CV200366 NM_001352514.2(HLCS):c.2113G>A (p.Glu705Lys) variant DOID:630 genetic disease IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24033266|PMID:25741868|PMID:28492532 10056223 CV200366 NM_001352514.2(HLCS):c.2113G>A (p.Glu705Lys) variant DOID:859 holocarboxylase synthetase deficiency IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency PMID:24033266|PMID:25741868|PMID:28492532 10056224 CV200364 NM_001352514.2(HLCS):c.2362G>A (p.Val788Met) variant DOID:859 holocarboxylase synthetase deficiency IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency PMID:25741868|PMID:28492532 10056225 CV200360 NM_001352514.2(HLCS):c.*7_*9del variant DOID:859 holocarboxylase synthetase deficiency IAGP D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency 10056226 CV200383 NM_001352514.2(HLCS):c.331-7157C>T variant DOID:859 holocarboxylase synthetase deficiency IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency 10056227 CV200382 NM_001352514.2(HLCS):c.494-13A>G variant DOID:859 holocarboxylase synthetase deficiency IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency PMID:25741868|PMID:28492532 10056228 CV200381 NM_001352514.2(HLCS):c.601G>C (p.Glu201Gln) variant DOID:630 genetic disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10056228 CV200381 NM_001352514.2(HLCS):c.601G>C (p.Glu201Gln) variant DOID:859 holocarboxylase synthetase deficiency IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency PMID:28492532 10056229 CV200378 NM_001352514.2(HLCS):c.914C>T (p.Thr305Met) variant DOID:859 holocarboxylase synthetase deficiency IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency PMID:25741868|PMID:28492532 10056230 CV200377 NM_001352514.2(HLCS):c.1002C>T (p.Ala334=) variant DOID:859 holocarboxylase synthetase deficiency IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency PMID:28492532 10056231 CV200376 NM_001352514.2(HLCS):c.1073C>T (p.Thr358Met) variant DOID:859 holocarboxylase synthetase deficiency IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency PMID:28492532 10056232 CV200374 NM_001352514.2(HLCS):c.1291G>A (p.Val431Ile) variant DOID:630 genetic disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10056232 CV200374 NM_001352514.2(HLCS):c.1291G>A (p.Val431Ile) variant DOID:859 holocarboxylase synthetase deficiency IAGP D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency PMID:28492532 10056233 CV200373 NM_001352514.2(HLCS):c.1330C>T (p.Arg444Trp) variant DOID:630 genetic disease IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10056233 CV200373 NM_001352514.2(HLCS):c.1330C>T (p.Arg444Trp) variant DOID:859 holocarboxylase synthetase deficiency IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency PMID:28492532 10056234 CV200372 NM_001352514.2(HLCS):c.1331G>A (p.Arg444Gln) variant DOID:859 holocarboxylase synthetase deficiency IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency PMID:28492532 10056235 CV200371 NM_001352514.2(HLCS):c.1342G>A (p.Gly448Ser) variant DOID:859 holocarboxylase synthetase deficiency IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency PMID:28492532 10056236 CV200370 NM_001352514.2(HLCS):c.1494C>T (p.Asn498=) variant DOID:859 holocarboxylase synthetase deficiency IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency PMID:28492532 10056239 CV200362 NM_001352514.2(HLCS):c.2500G>A (p.Val834Ile) variant DOID:630 genetic disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10056239 CV200362 NM_001352514.2(HLCS):c.2500G>A (p.Val834Ile) variant DOID:859 holocarboxylase synthetase deficiency IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency PMID:28492532 10056242 CV199942 NM_005518.4(HMGCS2):c.73C>G (p.Pro25Ala) variant DOID:0081168 HMG-CoA synthase 2 deficiency IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY PMID:28492532 10056243 CV199940 NM_005518.4(HMGCS2):c.364G>A (p.Asp122Asn) variant DOID:0081168 HMG-CoA synthase 2 deficiency IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency PMID:28492532 10056244 CV200292 NM_002225.5(IVD):c.*14C>T variant DOID:14753 isovaleric acidemia IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Isovaleryl-CoA dehydrogenase deficiency PMID:25741868 10056247 CV200289 NM_002225.5(IVD):c.890C>T (p.Ala297Val) variant DOID:14753 isovaleric acidemia IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Isovaleryl-CoA dehydrogenase deficiency PMID:25220015|PMID:25741868|PMID:28492532|PMID:31707166|PMID:35782626 10056248 CV200127 NM_018368.4(LMBRD1):c.378G>C (p.Lys126Asn) variant DOID:0050717 methylmalonic aciduria and homocystinuria type cblF IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblF PMID:28492532|PMID:32746448 10056250 CV200101 NM_022132.5(MCCC2):c.1181G>T (p.Arg394Ile) variant DOID:0080580 3-methylcrotonyl-CoA carboxylase 2 deficiency IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: 3-methylcrotonyl CoA carboxylase 2 deficiency PMID:28492532 10056251 CV200230 NM_052845.4(MMAB):c.185C>T (p.Thr62Met) variant DOID:0050452 mevalonic aciduria IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Mevalonic aciduria PMID:23707710|PMID:25741868|PMID:28492532 10056251 CV200230 NM_052845.4(MMAB):c.185C>T (p.Thr62Met) variant DOID:0060743 methylmalonic acidemia cblB type IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria, cblB type PMID:23707710|PMID:25741868|PMID:28492532 10056251 CV200230 NM_052845.4(MMAB):c.185C>T (p.Thr62Met) variant DOID:0081450 hyperimmunoglobulinemia D periodic fever syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Hyperimmunoglobulinemia D PMID:23707710|PMID:25741868|PMID:28492532 10056252 CV200229 NM_052845.4(MMAB):c.407G>A (p.Arg136Gln) variant DOID:0060743 methylmalonic acidemia cblB type IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria, cblB type PMID:25741868 10056252 CV200229 NM_052845.4(MMAB):c.407G>A (p.Arg136Gln) variant DOID:630 genetic disease IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868 10056253 CV200231 NM_052845.4(MMAB):c.61T>A (p.Cys21Ser) variant DOID:0060743 methylmalonic acidemia cblB type IAGP D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria, cblB type PMID:25741868|PMID:28492532 10056254 CV199945 NM_015506.3(MMACHC):c.181C>T (p.Arg61Trp) variant DOID:0050715 methylmalonic aciduria and homocystinuria type cblC IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria with homocystinuria cblC type PMID:16311595|PMID:19370762|PMID:25741868|PMID:28337550|PMID:28492532|PMID:28693988|PMID:32439973 10056254 CV199945 NM_015506.3(MMACHC):c.181C>T (p.Arg61Trp) variant DOID:630 genetic disease IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:16311595|PMID:19370762|PMID:25741868|PMID:28337550|PMID:28492532|PMID:28693988|PMID:32439973 10056254 CV199945 NM_015506.3(MMACHC):c.181C>T (p.Arg61Trp) variant DOID:655 inherited metabolic disorder IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Disorders of Intracellular Cobalamin Metabolism PMID:16311595|PMID:19370762|PMID:25741868|PMID:28337550|PMID:28492532|PMID:28693988|PMID:32439973 10056255 CV199947 NM_015506.3(MMACHC):c.316G>A (p.Glu106Lys) variant DOID:0050715 methylmalonic aciduria and homocystinuria type cblC IAGP D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria with homocystinuria cblC type PMID:25741868|PMID:28492532|PMID:33515116 10056255 CV199947 NM_015506.3(MMACHC):c.316G>A (p.Glu106Lys) variant DOID:655 inherited metabolic disorder IAGP D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Disorders of Intracellular Cobalamin Metabolism PMID:25741868|PMID:28492532|PMID:33515116 10056256 CV199984 NM_015702.3(MMADHC):c.453G>A (p.Gln151=) variant DOID:0050716 methylmalonic aciduria and homocystinuria type cblD IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Methylmalonic acidemia with homocystinuria cblD PMID:24033266|PMID:25741868|PMID:28492532 10056256 CV199984 NM_015702.3(MMADHC):c.453G>A (p.Gln151=) variant DOID:655 inherited metabolic disorder IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Disorders of Intracellular Cobalamin Metabolism PMID:24033266|PMID:25741868|PMID:28492532 10056257 CV199983 NM_015702.3(MMADHC):c.646C>G (p.Arg216Gly) variant DOID:0050716 methylmalonic aciduria and homocystinuria type cblD IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblD PMID:28492532 10056257 CV199983 NM_015702.3(MMADHC):c.646C>G (p.Arg216Gly) variant DOID:655 inherited metabolic disorder IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Disorders of Intracellular Cobalamin Metabolism PMID:28492532 10056258 CV199943 NM_000254.3(MTR):c.3079C>T (p.Arg1027Trp) variant DOID:0050733 methylmalonic aciduria and homocystinuria type cblG IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Methylcobalamin deficiency type cblG PMID:28492532 10056258 CV199943 NM_000254.3(MTR):c.3079C>T (p.Arg1027Trp) variant DOID:0112256 homocystinuria-megaloblastic anemia cblG type IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Methylcobalamin deficiency type cblG PMID:28492532 10056258 CV199943 NM_000254.3(MTR):c.3079C>T (p.Arg1027Trp) variant DOID:655 inherited metabolic disorder IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Disorders of Intracellular Cobalamin Metabolism PMID:28492532 10056259 CV200104 NM_002454.3(MTRR):c.1653G>A (p.Pro551=) variant DOID:0112255 homocystinuria-megaloblastic anemia cblE type IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Methylcobalamin deficiency type cblE PMID:25741868|PMID:28492532 10056259 CV200104 NM_002454.3(MTRR):c.1653G>A (p.Pro551=) variant DOID:655 inherited metabolic disorder IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Disorders of Intracellular Cobalamin Metabolism PMID:25741868|PMID:28492532 10056260 CV200105 NM_002454.3(MTRR):c.1982A>G (p.His661Arg) variant DOID:0112255 homocystinuria-megaloblastic anemia cblE type IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type PMID:25741868|PMID:28492532 10056260 CV200105 NM_002454.3(MTRR):c.1982A>G (p.His661Arg) variant DOID:655 inherited metabolic disorder IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Disorders of Intracellular Cobalamin Metabolism PMID:25741868|PMID:28492532 10056261 CV200103 NM_002454.3(MTRR):c.1091_1093del (p.Cys364del) variant DOID:0112255 homocystinuria-megaloblastic anemia cblE type IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type PMID:28492532 10056261 CV200103 NM_002454.3(MTRR):c.1091_1093del (p.Cys364del) variant DOID:655 inherited metabolic disorder IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Disorders of Intracellular Cobalamin Metabolism PMID:28492532 10056262 CV200122 NM_000255.4(MMUT):c.711A>G (p.Pro237=) variant DOID:0060740 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency PMID:25741868|PMID:28492532 10056263 CV200117 NM_000255.4(MMUT):c.890C>T (p.Thr297Ile) variant DOID:0060740 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency PMID:28492532 10056264 CV200120 NM_000255.4(MMUT):c.754C>T (p.His252Tyr) variant DOID:0060740 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency 10056265 CV200315 NM_153006.3(NAGS):c.1086T>C (p.Phe362=) variant DOID:9008972 Hyperammonemia IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Hyperammonemia, type III PMID:25741868|PMID:28492532 10056266 CV200314 NM_153006.3(NAGS):c.182A>G (p.Glu61Gly) variant DOID:9008972 Hyperammonemia IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Hyperammonemia, type III PMID:25741868|PMID:28492532 10056269 CV200251 NM_000282.4(PCCA):c.145C>T (p.Arg49Cys) variant DOID:14701 propionic acidemia IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:28492532 10056270 CV200252 NM_000282.4(PCCA):c.328G>C (p.Val110Leu) variant DOID:14701 propionic acidemia IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:28492532 10056270 CV200252 NM_000282.4(PCCA):c.328G>C (p.Val110Leu) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10056271 CV200029 NM_000532.5(PCCB):c.49C>A (p.Leu17Met) variant DOID:14701 propionic acidemia IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Propionic acidemia PMID:10447268|PMID:10780784|PMID:12007220|PMID:12757933|PMID:15464417|PMID:25741868|PMID:27896094|PMID:28492532 10056272 CV200203 NM_001040716.2(PC):c.1513+13del variant DOID:3651 pyruvate carboxylase deficiency disease IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Pyruvate carboxylase deficiency PMID:28492532 10056273 CV200202 NM_001040716.2(PC):c.1519G>A (p.Val507Ile) variant DOID:3651 pyruvate carboxylase deficiency disease IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Pyruvate carboxylase deficiency PMID:28492532 10056274 CV200201 NM_001040716.2(PC):c.1551C>T (p.Pro517=) variant DOID:3651 pyruvate carboxylase deficiency disease IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Pyruvate carboxylase deficiency PMID:25741868|PMID:28492532 10056275 CV200200 NM_001040716.2(PC):c.1608G>A (p.Pro536=) variant DOID:3651 pyruvate carboxylase deficiency disease IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Pyruvate carboxylase deficiency PMID:25741868|PMID:28492532 10056276 CV200197 NM_001040716.2(PC):c.1767G>T (p.Lys589Asn) variant DOID:3651 pyruvate carboxylase deficiency disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pyruvate carboxylase deficiency PMID:28492532 10056276 CV200197 NM_001040716.2(PC):c.1767G>T (p.Lys589Asn) variant DOID:630 genetic disease IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10056277 CV200195 NM_001040716.2(PC):c.2182G>A (p.Glu728Lys) variant DOID:3651 pyruvate carboxylase deficiency disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pyruvate carboxylase deficiency PMID:28492532 10056278 CV200194 NM_001040716.2(PC):c.2195G>A (p.Arg732Gln) variant DOID:3651 pyruvate carboxylase deficiency disease IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Pyruvate carboxylase deficiency PMID:28492532 10056278 CV200194 NM_001040716.2(PC):c.2195G>A (p.Arg732Gln) variant DOID:630 genetic disease IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10056279 CV200192 NM_001040716.2(PC):c.2577G>A (p.Ser859=) variant DOID:3651 pyruvate carboxylase deficiency disease IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Pyruvate carboxylase deficiency PMID:28492532 10056281 CV200190 NM_001040716.2(PC):c.2682T>C (p.Tyr894=) variant DOID:3651 pyruvate carboxylase deficiency disease IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Pyruvate carboxylase deficiency PMID:28492532 10056282 CV200186 NM_001040716.2(PC):c.3258C>G (p.Ser1086=) variant DOID:3651 pyruvate carboxylase deficiency disease IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Pyruvate carboxylase deficiency PMID:28492532 10056283 CV200217 NM_001040716.2(PC):c.14G>A (p.Arg5Gln) variant DOID:3651 pyruvate carboxylase deficiency disease IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Pyruvate carboxylase deficiency PMID:28492532 10056284 CV200216 NM_001040716.2(PC):c.50G>A (p.Arg17His) variant DOID:3651 pyruvate carboxylase deficiency disease IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Pyruvate carboxylase deficiency PMID:28492532 10056284 CV200216 NM_001040716.2(PC):c.50G>A (p.Arg17His) variant DOID:630 genetic disease IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10056285 CV200215 NM_001040716.2(PC):c.85G>A (p.Val29Ile) variant DOID:3651 pyruvate carboxylase deficiency disease IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pyruvate carboxylase deficiency PMID:25741868|PMID:28492532 10056286 CV200214 NM_001040716.2(PC):c.89G>A (p.Arg30Gln) variant DOID:3651 pyruvate carboxylase deficiency disease IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Pyruvate carboxylase deficiency PMID:28492532 10056287 CV200211 NM_001040716.2(PC):c.571A>G (p.Ile191Val) variant DOID:3651 pyruvate carboxylase deficiency disease IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Pyruvate carboxylase deficiency PMID:28492532 10056288 CV200205 NM_001040716.2(PC):c.1344G>A (p.Ala448=) variant DOID:3651 pyruvate carboxylase deficiency disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Pyruvate carboxylase deficiency PMID:28492532 10056288 CV200205 NM_001040716.2(PC):c.1344G>A (p.Ala448=) variant DOID:9004939 Leigh Necrotizing Encephalopathy due to Pyruvate Carboxylase Deficiency IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Leigh syndrome due to pyruvate carboxylase deficiency PMID:28492532 10056290 CV200199 NM_001040716.2(PC):c.1640G>A (p.Arg547Gln) variant DOID:3651 pyruvate carboxylase deficiency disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Pyruvate carboxylase deficiency PMID:28492532 10056291 CV200188 NM_001040716.2(PC):c.2804C>T (p.Ala935Val) variant DOID:3651 pyruvate carboxylase deficiency disease IAGP D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Pyruvate carboxylase deficiency PMID:28492532 10056292 CV200187 NM_001040716.2(PC):c.3107G>A (p.Arg1036His) variant DOID:3651 pyruvate carboxylase deficiency disease IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Pyruvate carboxylase deficiency PMID:25741868|PMID:28492532 10056292 CV200187 NM_001040716.2(PC):c.3107G>A (p.Arg1036His) variant DOID:630 genetic disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10056293 CV200213 NM_001040716.2(PC):c.321+5G>A variant DOID:3651 pyruvate carboxylase deficiency disease IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Pyruvate carboxylase deficiency PMID:28492532 10056294 CV200212 NM_001040716.2(PC):c.496G>A (p.Val166Ile) variant DOID:3651 pyruvate carboxylase deficiency disease IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Pyruvate carboxylase deficiency PMID:18676167|PMID:25741868|PMID:28492532 10056294 CV200212 NM_001040716.2(PC):c.496G>A (p.Val166Ile) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18676167|PMID:25741868|PMID:28492532 10056295 CV200210 NM_001040716.2(PC):c.616G>T (p.Val206Leu) variant DOID:3651 pyruvate carboxylase deficiency disease IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Pyruvate carboxylase deficiency PMID:23973720|PMID:28492532 10056296 CV200206 NM_001040716.2(PC):c.1292C>G (p.Ala431Gly) variant DOID:630 genetic disease IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10056297 CV200088 NM_003060.4(SLC22A5):c.704T>G (p.Val235Gly) variant DOID:14365 systemic primary carnitine deficiency disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Renal carnitine transport defect PMID:25741868|PMID:28492532 10056299 CV200083 NM_003060.4(SLC22A5):c.109C>G (p.Leu37Val) variant DOID:14365 systemic primary carnitine deficiency disease IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Renal carnitine transport defect PMID:28492532 10056300 CV200164 NM_014251.3(SLC25A13):c.1910T>C (p.Val637Ala) variant DOID:0070340 classic citrullinemia IAGP D RGD:8554872 20200303 ClinVar ClinVar Annotator: match by term: Citrullinemia type I PMID:25741868|PMID:28492532 10056300 CV200164 NM_014251.3(SLC25A13):c.1910T>C (p.Val637Ala) variant DOID:0070341 neonatal-onset type II citrullinemia IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: SLC25A13-related condition PMID:25741868|PMID:28492532 10056300 CV200164 NM_014251.3(SLC25A13):c.1910T>C (p.Val637Ala) variant DOID:0070342 adult-onset type II citrullinemia IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Citrin deficiency PMID:25741868|PMID:28492532 10056300 CV200164 NM_014251.3(SLC25A13):c.1910T>C (p.Val637Ala) variant DOID:9009138 Citrullinemia Type 2 IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Citrullinemia type II PMID:25741868|PMID:28492532 10056301 CV200257 NM_014252.4(SLC25A15):c.182G>A (p.Arg61His) variant DOID:0050720 ornithine translocase deficiency IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Ornithine translocase deficiency PMID:25741868|PMID:28337550|PMID:28492532 10056301 CV200257 NM_014252.4(SLC25A15):c.182G>A (p.Arg61His) variant DOID:1059 intellectual disability IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:25741868|PMID:28337550|PMID:28492532 10056302 CV200258 NM_014252.4(SLC25A15):c.506T>C (p.Phe169Ser) variant DOID:0050720 ornithine translocase deficiency IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome PMID:28492532 10056303 CV200281 NM_003982.4(SLC7A7):c.96G>A (p.Lys32=) variant DOID:0060439 lysinuric protein intolerance IAGP D RGD:8554872 20220111 ClinVar ClinVar Annotator: match by term: Lysinuric protein intolerance PMID:25741868|PMID:28492532 10056303 CV200281 NM_003982.4(SLC7A7):c.96G>A (p.Lys32=) variant DOID:2935 Chediak-Higashi syndrome IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Autoinflammatory syndrome PMID:25741868|PMID:28492532 10056304 CV200271 NM_003850.3(SUCLA2):c.272-13G>C variant DOID:0080124 mitochondrial DNA depletion syndrome 5 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) PMID:28492532 10056305 CV200264 NM_003850.3(SUCLA2):c.811A>G (p.Met271Val) variant DOID:0080124 mitochondrial DNA depletion syndrome 5 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) PMID:25741868|PMID:28492532 10056306 CV200263 NM_003850.3(SUCLA2):c.916A>C (p.Lys306Gln) variant DOID:0080124 mitochondrial DNA depletion syndrome 5 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) PMID:28492532 10056308 CV200272 NM_003850.3(SUCLA2):c.268T>A (p.Leu90Ile) variant DOID:0080124 mitochondrial DNA depletion syndrome 5 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) PMID:28492532 10056308 CV200272 NM_003850.3(SUCLA2):c.268T>A (p.Leu90Ile) variant DOID:630 genetic disease IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10056309 CV200279 NM_003850.3(SUCLA2):c.15G>A (p.Met5Ile) variant DOID:0080124 mitochondrial DNA depletion syndrome 5 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) PMID:28492532 10056309 CV200279 NM_003850.3(SUCLA2):c.15G>A (p.Met5Ile) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10056311 CV200277 NM_003850.3(SUCLA2):c.80C>T (p.Ala27Val) variant DOID:0080124 mitochondrial DNA depletion syndrome 5 IAGP D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) PMID:26467025|PMID:28492532 10056311 CV200277 NM_003850.3(SUCLA2):c.80C>T (p.Ala27Val) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025|PMID:28492532 10056314 CV200267 NM_003850.3(SUCLA2):c.617A>G (p.Glu206Gly) variant DOID:0080124 mitochondrial DNA depletion syndrome 5 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) PMID:25741868|PMID:28492532 10056314 CV200267 NM_003850.3(SUCLA2):c.617A>G (p.Glu206Gly) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10056315 CV200262 NM_003850.3(SUCLA2):c.937G>A (p.Gly313Ser) variant DOID:0080124 mitochondrial DNA depletion syndrome 5 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) PMID:28492532 10056316 CV200260 NM_003850.3(SUCLA2):c.1076A>C (p.Glu359Ala) variant DOID:0080124 mitochondrial DNA depletion syndrome 5 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) PMID:28492532 10056316 CV200260 NM_003850.3(SUCLA2):c.1076A>C (p.Glu359Ala) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10056317 CV200273 NM_003850.3(SUCLA2):c.236C>T (p.Ser79Leu) variant DOID:0080124 mitochondrial DNA depletion syndrome 5 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) PMID:25741868|PMID:28492532 10056317 CV200273 NM_003850.3(SUCLA2):c.236C>T (p.Ser79Leu) variant DOID:630 genetic disease IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10056317 CV200273 NM_003850.3(SUCLA2):c.236C>T (p.Ser79Leu) variant DOID:9008086 Developmental Disabilities IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:25741868|PMID:28492532 10056320 CV200275 NM_003850.3(SUCLA2):c.217A>G (p.Lys73Glu) variant DOID:0080124 mitochondrial DNA depletion syndrome 5 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) PMID:28492532 10056321 CV200019 NM_003849.4(SUCLG1):c.502A>G (p.Ile168Val) variant DOID:0080128 mitochondrial DNA depletion syndrome 9 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) PMID:28492532 10056322 CV200016 NM_003849.4(SUCLG1):c.900C>T (p.Ala300=) variant DOID:0070329 mitochondrial DNA depletion syndrome IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome PMID:28492532 10056322 CV200016 NM_003849.4(SUCLG1):c.900C>T (p.Ala300=) variant DOID:0080128 mitochondrial DNA depletion syndrome 9 IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) PMID:28492532 10056323 CV200026 NM_003849.4(SUCLG1):c.140G>A (p.Arg47Gln) variant DOID:0080128 mitochondrial DNA depletion syndrome 9 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) PMID:28492532 10056324 CV200021 NM_003849.4(SUCLG1):c.341C>T (p.Thr114Met) variant DOID:0080128 mitochondrial DNA depletion syndrome 9 IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) PMID:28492532 10056326 CV200014 NM_003849.4(SUCLG1):c.1010A>G (p.Tyr337Cys) variant DOID:0080128 mitochondrial DNA depletion syndrome 9 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) PMID:28492532 10056327 CV200020 NM_003849.4(SUCLG1):c.481C>T (p.Arg161Cys) variant DOID:0080128 mitochondrial DNA depletion syndrome 9 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 9 PMID:25741868|PMID:28492532 10056328 CV200172 NM_017866.6(TMEM70):c.730A>G (p.Ile244Val) variant DOID:0060331 mitochondrial complex V (ATP synthase) deficiency nuclear type 2 IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: ENCEPHALOCARDIOMYOPATHY, MITOCHONDRIAL, NEONATAL, DUE TO ATP SYNTHASE DEFICIENCY PMID:28492532 10056329 CV200173 NM_017866.6(TMEM70):c.764G>A (p.Arg255Gln) variant DOID:0060331 mitochondrial complex V (ATP synthase) deficiency nuclear type 2 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 PMID:25741868|PMID:28492532 10056329 CV200173 NM_017866.6(TMEM70):c.764G>A (p.Arg255Gln) variant DOID:630 genetic disease IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10056330 CV200165 NM_017866.6(TMEM70):c.25C>T (p.Pro9Ser) variant DOID:630 genetic disease IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10056331 CV200166 NM_017866.6(TMEM70):c.116C>G (p.Ala39Gly) variant DOID:0060331 mitochondrial complex V (ATP synthase) deficiency nuclear type 2 IAGP D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: ENCEPHALOCARDIOMYOPATHY, MITOCHONDRIAL, NEONATAL, DUE TO ATP SYNTHASE DEFICIENCY PMID:28492532 10056332 CV200170 NM_017866.6(TMEM70):c.555T>G (p.Asn185Lys) variant DOID:0060331 mitochondrial complex V (ATP synthase) deficiency nuclear type 2 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 PMID:25741868|PMID:28492532 10056333 CV200168 NM_017866.6(TMEM70):c.140G>A (p.Gly47Glu) variant DOID:0060331 mitochondrial complex V (ATP synthase) deficiency nuclear type 2 IAGP D RGD:8554872 20181009 ClinVar ClinVar Annotator: match by term: ENCEPHALOCARDIOMYOPATHY, MITOCHONDRIAL, NEONATAL, DUE TO ATP SYNTHASE DEFICIENCY PMID:18953340|PMID:21147908|PMID:24485043|PMID:25741868 10056334 CV200393 NM_014520.4(MYBBP1A):c.139C>T (p.Gln47Ter) variant DOID:12849 autistic disorder IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Autism 10056335 CV200392 NM_000228.3(LAMB3):c.133T>G (p.Ser45Ala) variant DOID:12849 autistic disorder IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Autism 10056336 CV200420 NM_000030.3(AGXT):c.26C>A (p.Thr9Asn) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:15849466|PMID:15961946|PMID:17460142|PMID:17495019|PMID:19479957|PMID:24033266|PMID:25741868|PMID:28492532 10056337 CV200421 NM_000030.3(AGXT):c.27C>A (p.Thr9=) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:19479957|PMID:28492532 10056338 CV200423 NM_000030.3(AGXT):c.32C>A (p.Pro11His) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:19479957|PMID:25741868|PMID:28492532 10056339 CV200426 NM_000030.3(AGXT):c.35A>G (p.Lys12Arg) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:28492532 10056339 CV200426 NM_000030.3(AGXT):c.35A>G (p.Lys12Arg) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10056340 CV200427 NM_000030.3(AGXT):c.65A>G (p.Asn22Ser) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:19479957|PMID:25741868|PMID:28492532 10056341 CV200438 NM_000030.3(AGXT):c.165+16A>G variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:19479957|PMID:25741868|PMID:28492532 10056342 CV200442 NM_000030.3(AGXT):c.166-57C>T variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:19479957 10056343 CV200443 NM_000030.3(AGXT):c.166-56C>T variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:19479957|PMID:25741868 10056344 CV200439 NM_000030.3(AGXT):c.165+19_166-48dup variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20180410 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:11562405|PMID:12559847|PMID:1879825|PMID:19479957|PMID:27644547 10056345 CV200441 NM_000030.3(AGXT):c.165+44T>A variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:19479957|PMID:25741868 10056346 CV200440 NM_000030.3(AGXT):c.165+40A>C variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:19479957|PMID:25741868 10056347 CV200444 NM_000030.3(AGXT):c.166-54C>T variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:19479957 10056348 CV200445 NM_000030.3(AGXT):c.166-47T>C variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:19479957 10056349 CV200446 NM_000030.3(AGXT):c.166-14C>T variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:19479957|PMID:25741868|PMID:28492532 10056350 CV200460 NM_000030.3(AGXT):c.264C>T (p.Ala88=) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:25741868|PMID:28492532|PMID:7967498 10056351 CV200464 NM_000030.3(AGXT):c.296C>A (p.Ser99Tyr) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:19479957 10056352 CV200479 NM_000030.3(AGXT):c.358+13C>T variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:25741868|PMID:28492532 10056354 CV200484 NM_000030.3(AGXT):c.385G>C (p.Asp129His) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:19479957|PMID:24718375|PMID:25620715|PMID:25741868|PMID:28492532|PMID:28906061 10056355 CV200488 NM_000030.3(AGXT):c.423+29C>T variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:25741868 10056356 CV200489 NM_000030.3(AGXT):c.423+36A>C variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:19479957 10056357 CV200490 NM_000030.3(AGXT):c.423+45T>G variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:25741868 10056358 CV200492 NM_000030.3(AGXT):c.424-12dup variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:19479957 10056359 CV200491 NM_000030.3(AGXT):c.424-16G>A variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:25741868|PMID:28492532 10056360 CV200503 NM_000030.3(AGXT):c.489G>A (p.Leu163=) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:19479957|PMID:25741868|PMID:28492532 10056361 CV200508 NM_000030.3(AGXT):c.524+91C>T variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:17460142|PMID:25741868 10056362 CV200534 NM_000030.3(AGXT):c.680+17C>T variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:17460142|PMID:25741868|PMID:28492532 10056363 CV200535 NM_000030.3(AGXT):c.680+75G>A variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I 10056364 CV200536 NM_000030.3(AGXT):c.680+130C>T variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:25741868 10056365 CV200538 NM_000030.3(AGXT):c.681-94G>A variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:25741868 10056366 CV200540 NM_000030.3(AGXT):c.705G>A (p.Thr235=) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:15963748|PMID:25741868|PMID:28492532 10056367 CV200543 NM_000030.3(AGXT):c.742G>T (p.Ala248Ser) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:19479957|PMID:25741868|PMID:28492532 10056368 CV200551 NM_000030.3(AGXT):c.777-44A>G variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:17460142|PMID:25741868 10056369 CV200550 NM_000030.3(AGXT):c.777-45C>T variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:17460142|PMID:25741868 10056370 CV200562 NM_000030.3(AGXT):c.837T>G (p.Ile279Met) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:15961946|PMID:24718375 10056371 CV200563 NM_000030.3(AGXT):c.839C>T (p.Ala280Val) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:15963748|PMID:25741868|PMID:28492532 10056372 CV200565 NM_000030.3(AGXT):c.845A>G (p.Gln282Arg) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:19479957|PMID:24718375|PMID:28492532 10056373 CV200569 NM_000030.3(AGXT):c.846+52G>A variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:17460142|PMID:25741868 10056374 CV200575 NM_000030.3(AGXT):c.865C>T (p.Arg289Cys) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:10541294|PMID:15961946|PMID:22923379|PMID:25741868|PMID:28492532|PMID:36409364 10056375 CV200576 NM_000030.3(AGXT):c.883G>A (p.Ala295Thr) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:25741868|PMID:28492532|PMID:29590070 10056376 CV200584 NM_000030.3(AGXT):c.943-117C>T variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I 10056377 CV200591 NM_000030.3(AGXT):c.976G>A (p.Val326Ile) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:12559847|PMID:25741868|PMID:28492532 10056378 CV200599 NM_000030.3(AGXT):c.1072-91G>A variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:17460142 10056379 CV200605 NM_000030.3(AGXT):c.1142G>A (p.Arg381Lys) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:25741868|PMID:28492532 10056380 CV200608 NM_000030.3(AGXT):c.1174C>T (p.Leu392=) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:19479957|PMID:25741868|PMID:28492532 10056381 CV200609 NM_000030.3(AGXT):c.*19G>A variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:19479957 10056382 CV200610 NM_000030.3(AGXT):c.*41C>A variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:25741868|PMID:9192270 10056383 CV200611 NM_000030.3(AGXT):c.*289A>C variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:19479957|PMID:25741868 10056384 CV200416 NM_000030.3(AGXT):c.2T>C (p.Met1Thr) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:15365967|PMID:17495019|PMID:24934730|PMID:25741868|PMID:28492532|PMID:29456205|PMID:33721035|PMID:37139236 10056384 CV200416 NM_000030.3(AGXT):c.2T>C (p.Met1Thr) variant DOID:2977 primary hyperoxaluria IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria PMID:15365967|PMID:17495019|PMID:24934730|PMID:25741868|PMID:28492532|PMID:29456205|PMID:33721035|PMID:37139236 10056385 CV200418 NM_000030.3(AGXT):c.3G>T (p.Met1Ile) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:19479957 10056386 CV200419 NM_000030.3(AGXT):c.22G>C (p.Val8Leu) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I 10056387 CV200422 NM_000030.3(AGXT):c.28C>T (p.Pro10Ser) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:19479957 10056388 CV200424 NM_000030.3(AGXT):c.32C>G (p.Pro11Arg) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:19479957|PMID:22821680|PMID:25741868|PMID:28492532|PMID:28904440|PMID:30341509|PMID:31589614|PMID:32556641|PMID:32792227|PMID:33691640|PMID:33721035|PMID:37144129|PMID:37464296 10056388 CV200424 NM_000030.3(AGXT):c.32C>G (p.Pro11Arg) variant DOID:2977 primary hyperoxaluria IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria PMID:19479957|PMID:22821680|PMID:25741868|PMID:28492532|PMID:28904440|PMID:30341509|PMID:31589614|PMID:32556641|PMID:32792227|PMID:33691640|PMID:33721035|PMID:37144129|PMID:37464296 10056389 CV200428 NM_000030.3(AGXT):c.74T>G (p.Leu25Arg) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:17460142|PMID:24718375 10056390 CV200429 NM_000030.3(AGXT):c.77T>C (p.Leu26Pro) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:17460142 10056391 CV200431 NM_000030.3(AGXT):c.107G>A (p.Arg36His) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:15356974|PMID:17495019|PMID:19479957|PMID:22923379|PMID:24718375|PMID:24988064|PMID:25741868|PMID:28492532|PMID:29110180|PMID:30341509 10056392 CV200433 NM_000030.3(AGXT):c.122G>A (p.Gly41Glu) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:10541294|PMID:15802217|PMID:16971151|PMID:17495019|PMID:18448374|PMID:20133649|PMID:21176891|PMID:22923379|PMID:28492532|PMID:8101040 10056393 CV200434 NM_000030.3(AGXT):c.125G>A (p.Gly42Glu) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:19479957 10056394 CV200436 NM_000030.3(AGXT):c.130C>T (p.Gln44Ter) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:10453743|PMID:11562405|PMID:25741868 10056395 CV200437 NM_000030.3(AGXT):c.139G>A (p.Gly47Arg) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:17460142|PMID:20564000|PMID:22923379|PMID:24718375|PMID:25741868|PMID:26149463|PMID:28492532 10056396 CV200448 NM_000030.3(AGXT):c.167T>A (p.Ile56Asn) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:19479957|PMID:24718375|PMID:25741868|PMID:27935012|PMID:28904440|PMID:29110180|PMID:32792227|PMID:33691640 10056396 CV200448 NM_000030.3(AGXT):c.167T>A (p.Ile56Asn) variant DOID:2977 primary hyperoxaluria IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria PMID:19479957|PMID:24718375|PMID:25741868|PMID:27935012|PMID:28904440|PMID:29110180|PMID:32792227|PMID:33691640 10056397 CV200449 NM_000030.3(AGXT):c.175G>A (p.Glu59Lys) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I 10056398 CV200450 NM_000030.3(AGXT):c.187G>C (p.Gly63Arg) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:19479957|PMID:22956877|PMID:25741868|PMID:27629047|PMID:29110180|PMID:33721035|PMID:36409364 10056398 CV200450 NM_000030.3(AGXT):c.187G>C (p.Gly63Arg) variant DOID:2977 primary hyperoxaluria IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria PMID:19479957|PMID:22956877|PMID:25741868|PMID:27629047|PMID:29110180|PMID:33721035|PMID:36409364 10056399 CV200451 NM_000030.3(AGXT):c.205C>T (p.Gln69Ter) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:19479957 10056400 CV200452 NM_000030.3(AGXT):c.209C>A (p.Thr70Asn) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:25629080|PMID:28492532 10056401 CV200455 NM_000030.3(AGXT):c.242C>A (p.Ser81Ter) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:24934730 10056402 CV200456 NM_000030.3(AGXT):c.242C>T (p.Ser81Leu) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:19479957|PMID:20564000|PMID:24988064|PMID:24990153|PMID:25741868|PMID:28492532 10056402 CV200456 NM_000030.3(AGXT):c.242C>T (p.Ser81Leu) variant DOID:2977 primary hyperoxaluria IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria PMID:19479957|PMID:20564000|PMID:24988064|PMID:24990153|PMID:25741868|PMID:28492532 10056402 CV200456 NM_000030.3(AGXT):c.242C>T (p.Ser81Leu) variant DOID:630 genetic disease IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:19479957|PMID:20564000|PMID:24988064|PMID:24990153|PMID:25741868|PMID:28492532 10056403 CV200457 NM_000030.3(AGXT):c.244G>C (p.Gly82Arg) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:10960483|PMID:15253729|PMID:22923379|PMID:24718375|PMID:25741868|PMID:28492532 10056404 CV200458 NM_000030.3(AGXT):c.248A>G (p.His83Arg) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:19479957|PMID:22923379|PMID:24205397|PMID:24718375 10056404 CV200458 NM_000030.3(AGXT):c.248A>G (p.His83Arg) variant DOID:2977 primary hyperoxaluria IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria PMID:19479957|PMID:22923379|PMID:24205397|PMID:24718375 10056405 CV200459 NM_000030.3(AGXT):c.254C>A (p.Ala85Asp) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I 10056406 CV200462 NM_000030.3(AGXT):c.283G>A (p.Glu95Lys) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20210406 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:19479957|PMID:24718375|PMID:28492532 10056407 CV200467 NM_000030.3(AGXT):c.323G>A (p.Trp108Ter) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:19479957|PMID:28492532 10056408 CV200468 NM_000030.3(AGXT):c.324G>T (p.Trp108Cys) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:25741868 10056409 CV200469 NM_000030.3(AGXT):c.326G>T (p.Gly109Val) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:19479957|PMID:24718375 10056410 CV200471 NM_000030.3(AGXT):c.331C>T (p.Arg111Ter) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:15110324|PMID:19479957|PMID:25741868|PMID:28492532|PMID:30341509|PMID:31078535 10056410 CV200471 NM_000030.3(AGXT):c.331C>T (p.Arg111Ter) variant DOID:2977 primary hyperoxaluria IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria PMID:15110324|PMID:19479957|PMID:25741868|PMID:28492532|PMID:30341509|PMID:31078535 10056411 CV200472 NM_000030.3(AGXT):c.332G>A (p.Arg111Gln) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:19479957|PMID:20301460|PMID:24718375|PMID:25741868|PMID:30076350 10056412 CV200473 NM_000030.3(AGXT):c.335C>A (p.Ala112Asp) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:12559847|PMID:16971151|PMID:25741868|PMID:28492532 10056412 CV200473 NM_000030.3(AGXT):c.335C>A (p.Ala112Asp) variant DOID:2977 primary hyperoxaluria IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria PMID:12559847|PMID:16971151|PMID:25741868|PMID:28492532 10056413 CV200474 NM_000030.3(AGXT):c.349G>T (p.Glu117Ter) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I 10056414 CV200475 NM_000030.3(AGXT):c.352C>T (p.Arg118Cys) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:25741868|PMID:34805638 10056415 CV200476 NM_000030.3(AGXT):c.353G>A (p.Arg118His) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:25741868 10056416 CV200482 NM_000030.3(AGXT):c.364C>T (p.Arg122Ter) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:19479957|PMID:21850686|PMID:24385516|PMID:25741868|PMID:28492532|PMID:29244539|PMID:30341509|PMID:31715429|PMID:35695965 10056417 CV200483 NM_000030.3(AGXT):c.371A>C (p.His124Pro) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I 10056418 CV200485 NM_000030.3(AGXT):c.409C>T (p.Gln137Ter) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:19479957 10056419 CV200487 NM_000030.3(AGXT):c.423G>T (p.Glu141Asp) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I 10056420 CV200496 NM_000030.3(AGXT):c.449T>C (p.Leu150Pro) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:17495019 10056421 CV200497 NM_000030.3(AGXT):c.457T>G (p.Leu153Val) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:15253729|PMID:24718375 10056422 CV200500 NM_000030.3(AGXT):c.473C>T (p.Ser158Leu) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:15849466|PMID:17460142|PMID:17495019|PMID:18782763|PMID:22018727|PMID:22923379|PMID:23430879|PMID:25629080|PMID:25741868|PMID:28492532|PMID:30541997|PMID:30655312 10056423 CV200499 NM_000030.3(AGXT):c.473C>A (p.Ser158Ter) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:19479957|PMID:28492532 10056424 CV200501 NM_000030.3(AGXT):c.481G>A (p.Gly161Ser) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:17460142|PMID:17495019|PMID:19479957|PMID:24055001|PMID:24718375|PMID:25629080|PMID:25741868|PMID:28492532|PMID:28893421|PMID:35695965 10056424 CV200501 NM_000030.3(AGXT):c.481G>A (p.Gly161Ser) variant DOID:12679 nephrocalcinosis IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Nephrocalcinosis PMID:17460142|PMID:17495019|PMID:19479957|PMID:24055001|PMID:24718375|PMID:25629080|PMID:25741868|PMID:28492532|PMID:28893421|PMID:35695965 10056424 CV200501 NM_000030.3(AGXT):c.481G>A (p.Gly161Ser) variant DOID:2977 primary hyperoxaluria IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria PMID:17460142|PMID:17495019|PMID:19479957|PMID:24055001|PMID:24718375|PMID:25629080|PMID:25741868|PMID:28492532|PMID:28893421|PMID:35695965 10056425 CV200502 NM_000030.3(AGXT):c.481G>C (p.Gly161Arg) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:15963748|PMID:24718375 10056426 CV200504 NM_000030.3(AGXT):c.497T>C (p.Leu166Pro) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:17495019|PMID:25741868 10056427 CV200505 NM_000030.3(AGXT):c.518G>A (p.Cys173Tyr) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:17495019|PMID:9604803 10056428 CV200506 NM_000030.3(AGXT):c.519C>A (p.Cys173Ter) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:15253729 10056428 CV200506 NM_000030.3(AGXT):c.519C>A (p.Cys173Ter) variant DOID:2977 primary hyperoxaluria IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria PMID:15253729 10056429 CV200510 NM_000030.3(AGXT):c.533G>A (p.Cys178Tyr) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:24988064|PMID:25629080|PMID:25741868|PMID:28492532|PMID:35812297 10056430 CV200511 NM_000030.3(AGXT):c.547G>A (p.Asp183Asn) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:10862087|PMID:16971151|PMID:25741868 10056431 CV200516 NM_000030.3(AGXT):c.583A>C (p.Met195Leu) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:19479957|PMID:24718375 10056432 CV200517 NM_000030.3(AGXT):c.584T>G (p.Met195Arg) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:15961946|PMID:24718375|PMID:24988064|PMID:25741868|PMID:28492532 10056433 CV200518 NM_000030.3(AGXT):c.595G>A (p.Gly199Ser) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I 10056434 CV200520 NM_000030.3(AGXT):c.603C>A (p.Asp201Glu) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:15849466|PMID:17460142|PMID:22781098|PMID:24718375|PMID:25629080|PMID:25741868|PMID:28492532 10056435 CV200521 NM_000030.3(AGXT):c.605T>A (p.Ile202Asn) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:24934730 10056436 CV200522 NM_000030.3(AGXT):c.612C>A (p.Tyr204Ter) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:15849466 10056437 CV200524 NM_000030.3(AGXT):c.614C>T (p.Ser205Leu) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:19479957|PMID:2039493|PMID:25741868|PMID:27935012|PMID:28492532|PMID:30541997|PMID:31078535|PMID:32556641|PMID:34031707 10056437 CV200524 NM_000030.3(AGXT):c.614C>T (p.Ser205Leu) variant DOID:2977 primary hyperoxaluria IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria PMID:19479957|PMID:2039493|PMID:25741868|PMID:27935012|PMID:28492532|PMID:30541997|PMID:31078535|PMID:32556641|PMID:34031707 10056438 CV200523 NM_000030.3(AGXT):c.614C>A (p.Ser205Ter) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:19479957 10056439 CV200525 NM_000030.3(AGXT):c.628G>C (p.Ala210Pro) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I 10056440 CV200527 NM_000030.3(AGXT):c.646G>A (p.Gly216Arg) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:16931222|PMID:17460142|PMID:25741868|PMID:28492532|PMID:29110180 10056441 CV200528 NM_000030.3(AGXT):c.661T>C (p.Ser221Pro) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:19479957 10056442 CV200539 NM_000030.3(AGXT):c.698G>T (p.Arg233Leu) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:15849466|PMID:17495019|PMID:18282470|PMID:18448374|PMID:18782763|PMID:28492532|PMID:9192270 10056443 CV200542 NM_000030.3(AGXT):c.727G>C (p.Asp243His) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:15961946|PMID:24718375 10056444 CV200546 NM_000030.3(AGXT):c.753G>A (p.Trp251Ter) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:15110324 10056445 CV200547 NM_000030.3(AGXT):c.757T>C (p.Cys253Arg) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:15849466|PMID:17495019|PMID:22923379|PMID:24718375|PMID:25741868|PMID:28492532 10056446 CV200553 NM_000030.3(AGXT):c.783T>A (p.His261Gln) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:17460142|PMID:22923379 10056447 CV200555 NM_000030.3(AGXT):c.806T>C (p.Leu269Pro) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:19479957|PMID:24718375|PMID:25741868|PMID:28492532 10056448 CV200556 NM_000030.3(AGXT):c.822G>C (p.Glu274Asp) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:19479957|PMID:22923379|PMID:24718375|PMID:24988064|PMID:25629080|PMID:25644115|PMID:25741868|PMID:28492532 10056449 CV200557 NM_000030.3(AGXT):c.823A>C (p.Ser275Arg) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:19479957|PMID:22923379|PMID:24718375 10056449 CV200557 NM_000030.3(AGXT):c.823A>C (p.Ser275Arg) variant DOID:2977 primary hyperoxaluria IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria PMID:19479957|PMID:22923379|PMID:24718375 10056449 CV200557 NM_000030.3(AGXT):c.823A>C (p.Ser275Arg) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:19479957|PMID:22923379|PMID:24718375 10056450 CV200564 NM_000030.3(AGXT):c.844C>T (p.Gln282Ter) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:15365967 10056451 CV200566 NM_000030.3(AGXT):c.846G>C (p.Gln282His) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:19479957 10056452 CV200573 NM_000030.3(AGXT):c.851T>C (p.Leu284Pro) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:19479957|PMID:24718375 10056453 CV200574 NM_000030.3(AGXT):c.853G>T (p.Glu285Ter) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:19479957 10056454 CV200578 NM_000030.3(AGXT):c.891T>G (p.Tyr297Ter) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:19479957|PMID:24988064 10056455 CV200579 NM_000030.3(AGXT):c.893T>C (p.Leu298Pro) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:10541294|PMID:15961946|PMID:22923379|PMID:24718375 10056455 CV200579 NM_000030.3(AGXT):c.893T>C (p.Leu298Pro) variant DOID:2977 primary hyperoxaluria IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria PMID:10541294|PMID:15961946|PMID:22923379|PMID:24718375 10056456 CV200580 NM_000030.3(AGXT):c.907C>T (p.Gln303Ter) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:17460142|PMID:19479957|PMID:28492532 10056457 CV200582 NM_000030.3(AGXT):c.922C>T (p.Gln308Ter) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I 10056458 CV200587 NM_000030.3(AGXT):c.947T>C (p.Leu316Pro) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I 10056459 CV200588 NM_000030.3(AGXT):c.956C>T (p.Pro319Leu) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:17460142|PMID:24718375 10056460 CV200593 NM_000030.3(AGXT):c.996G>A (p.Trp332Ter) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:19479957|PMID:25629080|PMID:28492532 10056461 CV200594 NM_000030.3(AGXT):c.997A>T (p.Arg333Ter) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:10541294|PMID:19479957|PMID:25741868|PMID:27644547|PMID:28492532 10056462 CV200595 NM_000030.3(AGXT):c.1007T>A (p.Val336Asp) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:15253729|PMID:18448374|PMID:22529745|PMID:25629080|PMID:25741868|PMID:28492532|PMID:34082749 10056463 CV200596 NM_000030.3(AGXT):c.1014C>G (p.Tyr338Ter) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I 10056464 CV200597 NM_000030.3(AGXT):c.1045G>A (p.Gly349Ser) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I 10056465 CV200600 NM_000030.3(AGXT):c.1076T>C (p.Leu359Pro) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:24718375|PMID:25741868 10056466 CV200601 NM_000030.3(AGXT):c.1079G>A (p.Arg360Gln) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:19479957|PMID:21705122|PMID:24988064|PMID:25629080|PMID:25644115|PMID:25741868|PMID:27935012|PMID:28492532|PMID:28893421|PMID:30341509|PMID:33721035 10056467 CV200602 NM_000030.3(AGXT):c.1102G>A (p.Ala368Thr) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:19479957|PMID:24718375 10056468 CV200606 NM_000030.3(AGXT):c.1148C>A (p.Ala383Asp) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I 10056469 CV200607 NM_000030.3(AGXT):c.1151T>C (p.Leu384Pro) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:19479957|PMID:24718375|PMID:25741868|PMID:28492532 10056470 CV200477 NM_000030.3(AGXT):c.358+1G>T variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:15253729|PMID:15961946|PMID:16199547|PMID:19479957|PMID:28492532 10056471 CV200478 NM_000030.3(AGXT):c.358+2T>G variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:15961946|PMID:16199547|PMID:19479957|PMID:28492532 10056472 CV200531 NM_000030.3(AGXT):c.680+1G>C variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:19479957|PMID:25741868 10056473 CV200530 NM_000030.3(AGXT):c.680+1G>A variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:16199547|PMID:19479957|PMID:24988064|PMID:28492532|PMID:34840803|PMID:35812297 10056473 CV200530 NM_000030.3(AGXT):c.680+1G>A variant DOID:2977 primary hyperoxaluria IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria PMID:16199547|PMID:19479957|PMID:24988064|PMID:28492532|PMID:34840803|PMID:35812297 10056474 CV200532 NM_000030.3(AGXT):c.680+2T>A variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I 10056475 CV200533 NM_000030.3(AGXT):c.680+5G>C variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:15963748 10056476 CV200548 NM_000030.3(AGXT):c.776+1G>A variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:16199547|PMID:17460142|PMID:17495019|PMID:19479957|PMID:28492532 10056477 CV200549 NM_000030.3(AGXT):c.776+1G>C variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:16199547|PMID:17460142|PMID:19479957|PMID:28492532 10056478 CV200568 NM_000030.3(AGXT):c.846+1G>T variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:15110324|PMID:16199547|PMID:17460142|PMID:19479957|PMID:25296721|PMID:25629080|PMID:25741868|PMID:28492532 10056478 CV200568 NM_000030.3(AGXT):c.846+1G>T variant DOID:2977 primary hyperoxaluria IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria PMID:15110324|PMID:16199547|PMID:17460142|PMID:19479957|PMID:25296721|PMID:25629080|PMID:25741868|PMID:28492532 10056479 CV200567 NM_000030.3(AGXT):c.846+1G>A variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:19479957|PMID:25741868 10056480 CV200583 NM_000030.3(AGXT):c.942+1G>T variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:15849466|PMID:16199547|PMID:19479957|PMID:28492532 10056481 CV200598 NM_000030.3(AGXT):c.1071+1G>A variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:19479957 10056482 CV200447 NM_000030.3(AGXT):c.166-1G>A variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:15253729 10056483 CV200493 NM_000030.3(AGXT):c.424-2A>G variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:17495019 10056484 CV200509 NM_000030.3(AGXT):c.525-1G>A variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:10862087|PMID:16199547|PMID:17460142|PMID:19479957|PMID:28492532 10056485 CV200519 NM_000030.3(AGXT):c.596-2A>G variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:25629080 10056486 CV200552 NM_000030.3(AGXT):c.777-2A>G variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:25629080|PMID:25741868 10056487 CV200572 NM_000030.3(AGXT):c.847-1G>C variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:10862087|PMID:12768081|PMID:15464418|PMID:19479957|PMID:19571789|PMID:20301460|PMID:23940605|PMID:24988064|PMID:25629080|PMID:25741868|PMID:35695965|PMID:35812297 10056487 CV200572 NM_000030.3(AGXT):c.847-1G>C variant DOID:2977 primary hyperoxaluria IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria PMID:10862087|PMID:12768081|PMID:15464418|PMID:19479957|PMID:19571789|PMID:20301460|PMID:23940605|PMID:24988064|PMID:25629080|PMID:25741868|PMID:35695965|PMID:35812297 10056488 CV200571 NM_000030.3(AGXT):c.847-3C>G variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:10862087|PMID:15110324|PMID:17576681|PMID:20544097|PMID:20549407|PMID:22844106|PMID:25363903|PMID:25629080|PMID:25644115|PMID:25741868|PMID:28492532|PMID:9536098 10056489 CV200586 NM_000030.3(AGXT):c.943-1G>T variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:16199547|PMID:19479957|PMID:25629080|PMID:25741868|PMID:28492532 10056490 CV200585 NM_000030.3(AGXT):c.943-1G>A variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I 10056492 CV200425 NM_000030.3(AGXT):c.32_33del (p.Pro11fs) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:17495019 10056493 CV200430 NM_000030.3(AGXT):c.83del (p.Pro28fs) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:19479957 10056494 CV200432 NM_000030.3(AGXT):c.116_117dup (p.Ala40fs) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:15963748|PMID:17495019|PMID:19479957|PMID:25629080|PMID:25741868|PMID:28492532 10056494 CV200432 NM_000030.3(AGXT):c.116_117dup (p.Ala40fs) variant DOID:2977 primary hyperoxaluria IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria PMID:15963748|PMID:17495019|PMID:19479957|PMID:25629080|PMID:25741868|PMID:28492532 10056495 CV200435 NM_000030.3(AGXT):c.126del (p.Leu43fs) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:17495019|PMID:19479957|PMID:25741868|PMID:28492532 10056495 CV200435 NM_000030.3(AGXT):c.126del (p.Leu43fs) variant DOID:2977 primary hyperoxaluria IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria PMID:17495019|PMID:19479957|PMID:25741868|PMID:28492532 10056496 CV200453 NM_000030.3(AGXT):c.215dup (p.Asn72fs) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I 10056497 CV200454 NM_000030.3(AGXT):c.221_227dup (p.Val77fs) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:10862087 10056498 CV200461 NM_000030.3(AGXT):c.276del (p.Asn92fs) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:19479957 10056499 CV200463 NM_000030.3(AGXT):c.283_285dup (p.Glu95dup) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:10453743|PMID:35812297 10056500 CV200470 NM_000030.3(AGXT):c.327del (p.Gln110fs) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:15963748|PMID:19479957|PMID:25741868|PMID:28492532 10056501 CV200481 NM_000030.3(AGXT):c.359-1_382del variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:25741868|PMID:34082749 10056502 CV200486 NM_000030.3(AGXT):c.416_418del (p.Val139del) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:17460142|PMID:25741868 10056503 CV200495 NM_000030.3(AGXT):c.447_454del (p.Leu151fs) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:17495019|PMID:19479957|PMID:25741868|PMID:27512303|PMID:28492532 10056503 CV200495 NM_000030.3(AGXT):c.447_454del (p.Leu151fs) variant DOID:2977 primary hyperoxaluria IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria PMID:17495019|PMID:19479957|PMID:25741868|PMID:27512303|PMID:28492532 10056504 CV200494 NM_000030.3(AGXT):c.445del (p.Val149fs) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:19479957 10056505 CV200498 NM_000030.3(AGXT):c.460del (p.Thr154fs) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:19479957 10056508 CV200513 NM_000030.3(AGXT):c.570del (p.Thr191fs) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:15110324|PMID:19479957|PMID:25629080|PMID:25741868|PMID:28492532 10056508 CV200513 NM_000030.3(AGXT):c.570del (p.Thr191fs) variant DOID:2977 primary hyperoxaluria IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria PMID:15110324|PMID:19479957|PMID:25629080|PMID:25741868|PMID:28492532 10056509 CV200514 NM_000030.3(AGXT):c.577del (p.Leu193fs) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:19479957|PMID:25629080|PMID:25741868|PMID:28492532|PMID:30488096|PMID:34031707 10056509 CV200514 NM_000030.3(AGXT):c.577del (p.Leu193fs) variant DOID:2977 primary hyperoxaluria IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria PMID:19479957|PMID:25629080|PMID:25741868|PMID:28492532|PMID:30488096|PMID:34031707 10056510 CV200515 NM_000030.3(AGXT):c.577dup (p.Leu193fs) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:19479957|PMID:25629080|PMID:25741868|PMID:28492532|PMID:36185032|PMID:37464296 10056510 CV200515 NM_000030.3(AGXT):c.577dup (p.Leu193fs) variant DOID:2977 primary hyperoxaluria IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria PMID:19479957|PMID:25629080|PMID:25741868|PMID:28492532|PMID:36185032|PMID:37464296 10056511 CV200526 NM_000030.3(AGXT):c.642_645del (p.Pro215fs) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:19479957 10056512 CV200529 NM_000030.3(AGXT):c.662_664del (p.Ser221del) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:22844106|PMID:25629080|PMID:25741868|PMID:26759051|PMID:28492532|PMID:31078535|PMID:35149915 10056512 CV200529 NM_000030.3(AGXT):c.662_664del (p.Ser221del) variant DOID:2977 primary hyperoxaluria IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria PMID:22844106|PMID:25629080|PMID:25741868|PMID:26759051|PMID:28492532|PMID:31078535|PMID:35149915 10056513 CV200613 NM_000030.3(AGXT):c.679_680+2del variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:11708860|PMID:16199547|PMID:19479957|PMID:25741868|PMID:28492532 10056515 CV200541 NM_000030.3(AGXT):c.725dup (p.Asp243fs) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:17495019|PMID:19479957|PMID:28492532 10056516 CV200544 NM_000030.3(AGXT):c.744del (p.Asn249fs) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:15110324 10056520 CV200561 NM_000030.3(AGXT):c.834del (p.Ile279fs) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:19479957 10056521 CV200570 NM_000030.3(AGXT):c.846+646_942+139del variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:15963748 10056524 CV200581 NM_000030.3(AGXT):c.919del (p.Leu307fs) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:19479957 10056527 CV200592 NM_000030.3(AGXT):c.983_988del (p.Ala328_Tyr330delinsAsp) variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:15110324|PMID:25741868 10056530 CV200412 NG_008005.1:g.(14407_14970)_(15375_?)del variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:17460142 10056531 CV200414 NG_008005.1:g.(?_5001)_(9305_10233)del variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:11708860 10056532 CV200415 NG_008005.1:g.(?_5001)_(11460_12190)del variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:10737993 10056533 CV200411 NG_008005.1:g.(7706_9235)_(15375_?)del variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:19479957 10056534 CV200413 NC_000002.12:g.(?_239048168)_(240879119_?)del variant DOID:0111670 primary hyperoxaluria type 1 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:22821680 10056535 CV200617 NM_012203.2(GRHPR):c.83+52del variant DOID:0111671 primary hyperoxaluria type 2 IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type II PMID:25741868 10056536 CV200623 NM_012203.2(GRHPR):c.215-11C>T variant DOID:0111671 primary hyperoxaluria type 2 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type II 10056537 CV200625 NM_012203.2(GRHPR):c.288-11C>T variant DOID:0111671 primary hyperoxaluria type 2 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type II PMID:24033266|PMID:25741868|PMID:26484032|PMID:28492532 10056538 CV200632 NM_012203.2(GRHPR):c.493+27C>T variant DOID:0111671 primary hyperoxaluria type 2 IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type II PMID:25741868 10056539 CV200633 NM_012203.2(GRHPR):c.494-68A>G variant DOID:0111671 primary hyperoxaluria type 2 IAGP D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type II PMID:25741868 10056540 CV200636 NM_012203.2(GRHPR):c.579= (p.Ala193=) variant DOID:0111671 primary hyperoxaluria type 2 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type II PMID:14635115 10056541 CV200637 NM_012203.2(GRHPR):c.598+145G>T variant DOID:0111671 primary hyperoxaluria type 2 IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type II PMID:25741868 10056542 CV200640 NM_012203.2(GRHPR):c.734+9G>A variant DOID:0111671 primary hyperoxaluria type 2 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type II PMID:25741868|PMID:28492532 10056543 CV200642 NM_012203.2(GRHPR):c.740A>G (p.Asp247Gly) variant DOID:0111671 primary hyperoxaluria type 2 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type II PMID:25741868 10056545 CV200644 NM_012203.2(GRHPR):c.871C>T (p.Leu291=) variant DOID:0111671 primary hyperoxaluria type 2 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type II PMID:25741868 10056546 CV200647 NM_012203.2(GRHPR):c.963G>A (p.Pro321=) variant DOID:0111671 primary hyperoxaluria type 2 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type II PMID:25741868|PMID:28492532 10056548 CV200621 NM_012203.2(GRHPR):c.102G>A (p.Trp34Ter) variant DOID:0111671 primary hyperoxaluria type 2 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type II PMID:25629080|PMID:25644115|PMID:28492532|PMID:31685312 10056549 CV200622 NM_012203.2(GRHPR):c.203T>C (p.Leu68Pro) variant DOID:0111671 primary hyperoxaluria type 2 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type II 10056550 CV200624 NM_012203.2(GRHPR):c.287G>T (p.Arg96Leu) variant DOID:0111671 primary hyperoxaluria type 2 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type II 10056551 CV200630 NM_012203.2(GRHPR):c.478G>A (p.Gly160Arg) variant DOID:0111671 primary hyperoxaluria type 2 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type II PMID:25741868 10056552 CV200634 NM_012203.2(GRHPR):c.494G>A (p.Gly165Asp) variant DOID:0111671 primary hyperoxaluria type 2 IAGP D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type II PMID:11030416|PMID:14635115|PMID:24116921|PMID:25629080|PMID:25741868|PMID:28492532|PMID:31685312 10056552 CV200634 NM_012203.2(GRHPR):c.494G>A (p.Gly165Asp) variant DOID:2977 primary hyperoxaluria IAGP D RGD:8554872 20220809 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria PMID:11030416|PMID:14635115|PMID:24116921|PMID:25629080|PMID:25741868|PMID:28492532|PMID:31685312 10056553 CV200643 NM_012203.2(GRHPR):c.743T>A (p.Val248Asp) variant DOID:0111671 primary hyperoxaluria type 2 IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type II PMID:25629080|PMID:31685312 10056554 CV200645 NM_012203.2(GRHPR):c.905G>A (p.Arg302His) variant DOID:0111671 primary hyperoxaluria type 2 IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type II PMID:25629080|PMID:25741868|PMID:31685312 10056555 CV200646 NM_012203.2(GRHPR):c.934A>G (p.Asn312Asp) variant DOID:0111671 primary hyperoxaluria type 2 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type II PMID:19296982|PMID:25741868 10056556 CV200649 NM_012203.2(GRHPR):c.965T>G (p.Met322Arg) variant DOID:0111671 primary hyperoxaluria type 2 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type II PMID:11030416|PMID:25629080|PMID:28492532 10056557 CV200648 NM_012203.2(GRHPR):c.965T>C (p.Met322Thr) variant DOID:0111671 primary hyperoxaluria type 2 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type II 10056558 CV200620 NM_012203.2(GRHPR):c.84-2A>G variant DOID:0111671 primary hyperoxaluria type 2 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type II PMID:14635115|PMID:16199547|PMID:24116921|PMID:25525159|PMID:25644115|PMID:28492532 10056560 CV200631 NM_012203.2(GRHPR):c.493+2T>A variant DOID:0111671 primary hyperoxaluria type 2 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type II PMID:16199547|PMID:25629080|PMID:25644115|PMID:25741868|PMID:28492532 10056561 CV200641 NM_012203.2(GRHPR):c.735-1G>A variant DOID:0111671 primary hyperoxaluria type 2 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type II PMID:11030416|PMID:14987413|PMID:16199547|PMID:25644115|PMID:25741868|PMID:28492532|PMID:28553045 10056562 CV200616 NM_012203.2(GRHPR):c.45del (p.Ala17fs) variant DOID:0111671 primary hyperoxaluria type 2 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type II 10056563 CV200626 NM_012203.2(GRHPR):c.288-2_288del variant DOID:0111671 primary hyperoxaluria type 2 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type II 10056564 CV200627 NM_012203.2(GRHPR):c.375del (p.Leu126fs) variant DOID:0111671 primary hyperoxaluria type 2 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type II PMID:14635115|PMID:25644115|PMID:28492532 10056566 CV200635 NM_012203.2(GRHPR):c.540del (p.Leu181fs) variant DOID:0111671 primary hyperoxaluria type 2 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type II PMID:14635115|PMID:25741868 10056567 CV200638 NM_012203.2(GRHPR):c.608_609del (p.Pro203fs) variant DOID:0111671 primary hyperoxaluria type 2 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type II PMID:11477177|PMID:14635115|PMID:16306119|PMID:24116921|PMID:25644115|PMID:25741868|PMID:28492532 10056568 CV200639 NM_012203.2(GRHPR):c.694del (p.Gln232fs) variant DOID:0111671 primary hyperoxaluria type 2 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type II PMID:25410531|PMID:25644115|PMID:25741868|PMID:28492532 10056569 CV200656 NM_138413.4(HOGA1):c.212-21A>G variant DOID:0111672 primary hyperoxaluria type 3 IAGP D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type III PMID:25741868 10056570 CV200661 NM_138413.4(HOGA1):c.341-82del variant DOID:0111672 primary hyperoxaluria type 3 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type III 10056571 CV200663 NM_138413.4(HOGA1):c.396G>A (p.Ala132=) variant DOID:0111672 primary hyperoxaluria type 3 IAGP D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type III PMID:25741868|PMID:28492532 10056572 CV200666 NM_138413.4(HOGA1):c.469-13C>T variant DOID:0111672 primary hyperoxaluria type 3 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria type 3 PMID:28492532 10056573 CV200665 NM_138413.4(HOGA1):c.469-25C>T variant DOID:0111672 primary hyperoxaluria type 3 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria type 3 PMID:25741868 10056574 CV200664 NM_138413.4(HOGA1):c.469-31C>T variant DOID:0111672 primary hyperoxaluria type 3 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria type 3 PMID:25741868 10056575 CV200672 NM_138413.4(HOGA1):c.700+67G>A variant DOID:0111672 primary hyperoxaluria type 3 IAGP D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type III PMID:25741868 10056576 CV200676 NM_138413.4(HOGA1):c.745C>G (p.Gln249Glu) variant DOID:0111672 primary hyperoxaluria type 3 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria type 3 PMID:21896830|PMID:25741868 10056577 CV200679 NM_138413.4(HOGA1):c.834+42G>T variant DOID:0111672 primary hyperoxaluria type 3 IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria type 3 PMID:25741868 10056578 CV200673 NM_138413.4(HOGA1):c.701-18G>C variant DOID:0111672 primary hyperoxaluria type 3 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria type 3 PMID:28492532 10056579 CV200683 NM_138413.4(HOGA1):c.912C>A (p.Ala304=) variant DOID:0111672 primary hyperoxaluria type 3 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type III PMID:24033266|PMID:25741868|PMID:28492532 10056580 CV200652 NM_138413.4(HOGA1):c.107C>T (p.Ala36Val) variant DOID:0111672 primary hyperoxaluria type 3 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria type 3 PMID:22391140|PMID:24563386|PMID:25629080|PMID:25741868|PMID:28492532|PMID:31589614|PMID:33350326 10056581 CV200654 NM_138413.4(HOGA1):c.134C>T (p.Pro45Leu) variant DOID:0111672 primary hyperoxaluria type 3 IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria type 3 PMID:25741868|PMID:26342005|PMID:28492532 10056582 CV200657 NM_138413.4(HOGA1):c.221T>G (p.Val74Gly) variant DOID:0111672 primary hyperoxaluria type 3 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria type 3 PMID:22781098|PMID:25741868|PMID:28492532|PMID:28711958 10056583 CV200653 NM_138413.4(HOGA1):c.117C>A (p.Tyr39Ter) variant DOID:0111672 primary hyperoxaluria type 3 IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type III PMID:22391140|PMID:22781098|PMID:28492532 10056584 CV200655 NM_138413.4(HOGA1):c.208C>T (p.Arg70Ter) variant DOID:0111672 primary hyperoxaluria type 3 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria type 3 PMID:22391140|PMID:22781098|PMID:25629080|PMID:25741868|PMID:25972204|PMID:27742850|PMID:28492532|PMID:30488096|PMID:31123811|PMID:33865885 10056585 CV200660 NM_138413.4(HOGA1):c.337G>A (p.Glu113Lys) variant DOID:0111672 primary hyperoxaluria type 3 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria type 3 PMID:25741868|PMID:26342005|PMID:28492532 10056586 CV200662 NM_138413.4(HOGA1):c.346C>T (p.Gln116Ter) variant DOID:0111672 primary hyperoxaluria type 3 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria type 3 PMID:22391140|PMID:22781098|PMID:25741868|PMID:28492532 10056587 CV200667 NM_138413.4(HOGA1):c.529G>T (p.Asp177Tyr) variant DOID:0111672 primary hyperoxaluria type 3 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria type 3 PMID:25741868 10056588 CV200670 NM_138413.4(HOGA1):c.569C>T (p.Pro190Leu) variant DOID:0111672 primary hyperoxaluria type 3 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria type 3 PMID:21896830|PMID:21998747|PMID:22771891|PMID:22781098|PMID:25741868|PMID:27561601|PMID:28492532|PMID:33865885 10056589 CV200674 NM_138413.4(HOGA1):c.728C>A (p.Ala243Asp) variant DOID:0111672 primary hyperoxaluria type 3 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type III PMID:22781098 10056590 CV200675 NM_138413.4(HOGA1):c.733G>A (p.Val245Ile) variant DOID:0111672 primary hyperoxaluria type 3 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria type 3 PMID:22781098|PMID:28492532 10056591 CV200677 NM_138413.4(HOGA1):c.763C>T (p.Arg255Ter) variant DOID:0111672 primary hyperoxaluria type 3 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria type 3 PMID:21896830|PMID:21998747|PMID:22771891|PMID:25741868|PMID:28492532 10056592 CV200680 NM_138413.4(HOGA1):c.839C>T (p.Thr280Ile) variant DOID:0111672 primary hyperoxaluria type 3 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria type 3 PMID:21896830|PMID:25741868 10056593 CV200681 NM_138413.4(HOGA1):c.875T>C (p.Met292Thr) variant DOID:0111672 primary hyperoxaluria type 3 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria type 3 PMID:22391140|PMID:25741868 10056594 CV200682 NM_138413.4(HOGA1):c.907C>T (p.Arg303Cys) variant DOID:0111672 primary hyperoxaluria type 3 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria type 3 PMID:21896830|PMID:22391140|PMID:22771891|PMID:25741868|PMID:28492532 10056595 CV200658 NM_138413.4(HOGA1):c.227G>A (p.Gly76Asp) variant DOID:0111672 primary hyperoxaluria type 3 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria type 3 PMID:25644115|PMID:25741868|PMID:28492532 10056596 CV200659 NM_138413.4(HOGA1):c.308A>T (p.Asn103Ile) variant DOID:0111672 primary hyperoxaluria type 3 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria type 3 PMID:25644115|PMID:28492532 10056597 CV200668 NM_138413.4(HOGA1):c.533T>C (p.Leu178Pro) variant DOID:0111672 primary hyperoxaluria type 3 IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria type 3 PMID:25644115|PMID:25741868|PMID:34805638 10056598 CV200669 NM_138413.4(HOGA1):c.535C>A (p.Pro179Thr) variant DOID:0111672 primary hyperoxaluria type 3 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type III PMID:25644115 10056599 CV200684 NM_138413.4(HOGA1):c.973G>A (p.Gly325Ser) variant DOID:0111672 primary hyperoxaluria type 3 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria type 3 PMID:25644115|PMID:25741868|PMID:28492532|PMID:34245816 10056600 CV200671 NM_138413.4(HOGA1):c.700+5G>T variant DOID:0111672 primary hyperoxaluria type 3 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria type 3 PMID:17576681|PMID:20797690|PMID:21896830|PMID:22391140|PMID:22781098|PMID:22851625|PMID:24033266|PMID:24563386|PMID:25629080|PMID:25644115|PMID:25741868|PMID:27096395|PMID:28492532|PMID:30609409|PMID:31589614|PMID:31980526|PMID:33226606|PMID:33865885|PMID:36185032|PMID:37306718|PMID:37318624|PMID:9536098 10056601 CV200678 NM_138413.4(HOGA1):c.834G>A (p.Ala278=) variant DOID:0111672 primary hyperoxaluria type 3 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria type 3 PMID:17576681|PMID:25741868|PMID:26340091|PMID:28492532|PMID:31123811|PMID:9536098 10056602 CV200685 NM_138413.4(HOGA1):c.158del (p.Asp53fs) variant DOID:0111672 primary hyperoxaluria type 3 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria type 3 PMID:22391140|PMID:22781098|PMID:25629080|PMID:25741868|PMID:28492532 10056603 CV200686 NM_138413.4(HOGA1):c.803_805del (p.Leu268del) variant DOID:0111672 primary hyperoxaluria type 3 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type III PMID:24563386 10056604 CV200692 NM_004370.6(COL12A1):c.7001T>C (p.Ile2334Thr) variant DOID:0060948 Ullrich congenital muscular dystrophy 2 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2 PMID:24334604|PMID:25741868|PMID:28492532|PMID:29858556 10056604 CV200692 NM_004370.6(COL12A1):c.7001T>C (p.Ile2334Thr) variant DOID:0061201 Bethlem myopathy 2 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 2 PMID:24334604|PMID:25741868|PMID:28492532|PMID:29858556 10056605 CV200693 NM_004370.6(COL12A1):c.8357G>A (p.Gly2786Asp) variant DOID:0061201 Bethlem myopathy 2 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 2 PMID:24334769 10056606 CV200694 NM_004370.6(COL12A1):c.5893C>T (p.Arg1965Cys) variant DOID:0060948 Ullrich congenital muscular dystrophy 2 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2 PMID:24334769|PMID:25741868|PMID:28306225|PMID:28492532|PMID:31273343|PMID:31509352|PMID:32629534|PMID:37079061|PMID:37353357|PMID:38174471 10056606 CV200694 NM_004370.6(COL12A1):c.5893C>T (p.Arg1965Cys) variant DOID:0061201 Bethlem myopathy 2 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Bethlem myopathy 2 PMID:24334769|PMID:25741868|PMID:28306225|PMID:28492532|PMID:31273343|PMID:31509352|PMID:32629534|PMID:37079061|PMID:37353357|PMID:38174471 10056607 CV188201 NM_001365276.2(TNXB):c.12180C>G (p.Cys4060Trp) variant DOID:0080731 Ehlers-Danlos syndrome classic-like 1 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic-like, 1 PMID:25741868|PMID:26075496|PMID:27582382|PMID:31141158|PMID:31229653|PMID:32572181|PMID:33482002 10056607 CV188201 NM_001365276.2(TNXB):c.12180C>G (p.Cys4060Trp) variant DOID:9003723 Vesicoureteral Reflux 8 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: TNXB-related condition PMID:25741868|PMID:26075496|PMID:27582382|PMID:31141158|PMID:31229653|PMID:32572181|PMID:33482002 10056608 CV188200 NM_001365276.2(TNXB):c.12224G>A (p.Arg4075His) variant DOID:0080731 Ehlers-Danlos syndrome classic-like 1 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome due to tenascin-X deficiency PMID:25741868|PMID:26075496|PMID:27297501|PMID:33482002|PMID:35807105 10056608 CV188200 NM_001365276.2(TNXB):c.12224G>A (p.Arg4075His) variant DOID:13359 Ehlers-Danlos syndrome IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome PMID:25741868|PMID:26075496|PMID:27297501|PMID:33482002|PMID:35807105 10056609 CV188199 NM_001365276.2(TNXB):c.12520G>A (p.Asp4174Asn) variant DOID:0080731 Ehlers-Danlos syndrome classic-like 1 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome due to tenascin-X deficiency PMID:25741868|PMID:26075496|PMID:27297501|PMID:29734195|PMID:31775249 10056610 CV188198 NM_001365276.2(TNXB):c.12530G>A (p.Ser4177Asn) variant DOID:0080731 Ehlers-Danlos syndrome classic-like 1 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Ehlers-Danlos syndrome due to tenascin-X deficiency PMID:25741868|PMID:26075496|PMID:27297501|PMID:29734195|PMID:31775249 10056611 CV200708 NM_024741.3(ZNF408):c.1363C>T (p.His455Tyr) variant DOID:0111410 exudative vitreoretinopathy 6 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 6 PMID:23716654|PMID:25741868|PMID:28492532|PMID:28559085|PMID:29982478|PMID:6897033 10056611 CV200708 NM_024741.3(ZNF408):c.1363C>T (p.His455Tyr) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:23716654|PMID:25741868|PMID:28492532|PMID:28559085|PMID:29982478|PMID:6897033 10056612 CV200709 NM_024741.3(ZNF408):c.377G>A (p.Ser126Asn) variant DOID:0111410 exudative vitreoretinopathy 6 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 6 PMID:23716654|PMID:28492532|PMID:33247286 10056612 CV200709 NM_024741.3(ZNF408):c.377G>A (p.Ser126Asn) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:23716654|PMID:28492532|PMID:33247286 10056613 CV200711 NM_024741.3(ZNF408):c.1621C>T (p.Arg541Cys) variant DOID:0110395 retinitis pigmentosa 72 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 72 PMID:25741868|PMID:25882705|PMID:28492532|PMID:3196484 10056613 CV200711 NM_024741.3(ZNF408):c.1621C>T (p.Arg541Cys) variant DOID:0111410 exudative vitreoretinopathy 6 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Exudative vitreoretinopathy 6 PMID:25741868|PMID:25882705|PMID:28492532|PMID:3196484 10056613 CV200711 NM_024741.3(ZNF408):c.1621C>T (p.Arg541Cys) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:25741868|PMID:25882705|PMID:28492532|PMID:3196484 10056614 CV200712 NM_000054.7(AVPR2):c.388A>T (p.Ile130Phe) variant DOID:0081060 X-linked nephrogenic diabetes insipidus IAGP D RGD:8554872 20210629 ClinVar ClinVar Annotator: match by term: Nephrogenic diabetes insipidus, X-linked PMID:10770218 10056615 CV200727 NM_002253.4(KDR):c.2615-23C>T variant DOID:1520 colon carcinoma IAGP D RGD:8554872 20180417 ClinVar ClinVar Annotator: match by term: Colonic carcinoma 10056616 CV200726 NM_002253.4(KDR):c.2656C>A (p.Leu886Ile) variant DOID:1520 colon carcinoma IAGP D RGD:8554872 20180417 ClinVar ClinVar Annotator: match by term: Colonic carcinoma 10056617 CV200725 NM_002253.4(KDR):c.2676T>A (p.Ile892=) variant DOID:1520 colon carcinoma IAGP D RGD:8554872 20180417 ClinVar ClinVar Annotator: match by term: Colonic carcinoma 10056618 CV200724 NM_002253.4(KDR):c.2705T>A (p.Leu902Gln) variant DOID:1520 colon carcinoma IAGP D RGD:8554872 20180417 ClinVar ClinVar Annotator: match by term: Colonic carcinoma 10056619 CV200723 NM_002253.4(KDR):c.2721G>C (p.Lys907Asn) variant DOID:1520 colon carcinoma IAGP D RGD:8554872 20180417 ClinVar ClinVar Annotator: match by term: Colonic carcinoma 10056620 CV200732 NM_002253.4(KDR):c.2380G>A (p.Gly794Arg) variant DOID:1520 colon carcinoma IAGP D RGD:8554872 20180417 ClinVar ClinVar Annotator: match by term: Colonic carcinoma 10056621 CV200731 NM_002253.4(KDR):c.2509+20T>A variant DOID:1520 colon carcinoma IAGP D RGD:8554872 20180417 ClinVar ClinVar Annotator: match by term: Colonic carcinoma 10056622 CV200730 NM_002253.4(KDR):c.2510-27del variant DOID:1520 colon carcinoma IAGP D RGD:8554872 20180417 ClinVar ClinVar Annotator: match by term: Colonic carcinoma 10056623 CV200729 NM_002253.4(KDR):c.2544G>T (p.Val848=) variant DOID:1520 colon carcinoma IAGP D RGD:8554872 20180417 ClinVar ClinVar Annotator: match by term: Colonic carcinoma 10056624 CV200728 NM_002253.4(KDR):c.2598A>C (p.Ala866=) variant DOID:1520 colon carcinoma IAGP D RGD:8554872 20180417 ClinVar ClinVar Annotator: match by term: Colonic carcinoma 10056625 CV200722 NM_002253.4(KDR):c.3405-4C>T variant DOID:1520 colon carcinoma IAGP D RGD:8554872 20180417 ClinVar ClinVar Annotator: match by term: Colonic carcinoma 10056626 CV200721 NM_002253.4(KDR):c.3441C>G (p.Pro1147=) variant DOID:1520 colon carcinoma IAGP D RGD:8554872 20180417 ClinVar ClinVar Annotator: match by term: Colonic carcinoma 10056627 CV200720 NM_002253.4(KDR):c.3465G>A (p.Glu1155=) variant DOID:1520 colon carcinoma IAGP D RGD:8554872 20180417 ClinVar ClinVar Annotator: match by term: Colonic carcinoma 10056628 CV200719 NM_002253.4(KDR):c.3487C>T (p.Leu1163Phe) variant DOID:1520 colon carcinoma IAGP D RGD:8554872 20180417 ClinVar ClinVar Annotator: match by term: Colonic carcinoma 10056629 CV200740 NM_182925.5(FLT4):c.2542+20del variant DOID:1520 colon carcinoma IAGP D RGD:8554872 20180417 ClinVar ClinVar Annotator: match by term: Colonic carcinoma 10056630 CV200741 NM_182925.5(FLT4):c.2542+18del variant DOID:1520 colon carcinoma IAGP D RGD:8554872 20180417 ClinVar ClinVar Annotator: match by term: Colonic carcinoma 10056631 CV200742 NM_182925.5(FLT4):c.2542+12A>G variant DOID:1520 colon carcinoma IAGP D RGD:8554872 20180417 ClinVar ClinVar Annotator: match by term: Colonic carcinoma 10056632 CV200743 NM_182925.5(FLT4):c.2519del (p.Phe840fs) variant DOID:1520 colon carcinoma IAGP D RGD:8554872 20180417 ClinVar ClinVar Annotator: match by term: Colonic carcinoma 10056633 CV200744 NM_182925.5(FLT4):c.2507G>A (p.Ser836Asn) variant DOID:1520 colon carcinoma IAGP D RGD:8554872 20180417 ClinVar ClinVar Annotator: match by term: Colonic carcinoma 10056634 CV200745 NM_182925.5(FLT4):c.2502T>A (p.Asp834Glu) variant DOID:1520 colon carcinoma IAGP D RGD:8554872 20180417 ClinVar ClinVar Annotator: match by term: Colonic carcinoma 10056635 CV200746 NM_182925.5(FLT4):c.2498A>C (p.Tyr833Ser) variant DOID:1520 colon carcinoma IAGP D RGD:8554872 20180417 ClinVar ClinVar Annotator: match by term: Colonic carcinoma 10056636 CV200747 NM_182925.5(FLT4):c.2496C>G (p.Ser832=) variant DOID:1520 colon carcinoma IAGP D RGD:8554872 20180417 ClinVar ClinVar Annotator: match by term: Colonic carcinoma 10056637 CV200748 NM_182925.5(FLT4):c.2470C>A (p.Leu824Met) variant DOID:1520 colon carcinoma IAGP D RGD:8554872 20180417 ClinVar ClinVar Annotator: match by term: Colonic carcinoma 10056638 CV200749 NM_182925.5(FLT4):c.2433C>A (p.Gly811=) variant DOID:1520 colon carcinoma IAGP D RGD:8554872 20180417 ClinVar ClinVar Annotator: match by term: Colonic carcinoma 10056639 CV200750 NM_182925.5(FLT4):c.2414A>C (p.His805Pro) variant DOID:1520 colon carcinoma IAGP D RGD:8554872 20180417 ClinVar ClinVar Annotator: match by term: Colonic carcinoma 10056640 CV200751 NM_182925.5(FLT4):c.2407-6C>G variant DOID:1520 colon carcinoma IAGP D RGD:8554872 20180417 ClinVar ClinVar Annotator: match by term: Colonic carcinoma 10056641 CV200752 NM_182925.5(FLT4):c.2407-7C>T variant DOID:1520 colon carcinoma IAGP D RGD:8554872 20180417 ClinVar ClinVar Annotator: match by term: Colonic carcinoma 10056642 CV200739 NM_182925.5(FLT4):c.2647+31del variant DOID:1520 colon carcinoma IAGP D RGD:8554872 20180417 ClinVar ClinVar Annotator: match by term: Colonic carcinoma 10056643 CV200733 NM_182925.5(FLT4):c.3076del (p.Glu1026fs) variant DOID:1520 colon carcinoma IAGP D RGD:8554872 20180417 ClinVar ClinVar Annotator: match by term: Colonic carcinoma 10056644 CV200734 NM_182925.5(FLT4):c.3072del (p.Met1025fs) variant DOID:1520 colon carcinoma IAGP D RGD:8554872 20180417 ClinVar ClinVar Annotator: match by term: Colonic carcinoma 10056645 CV200735 NM_182925.5(FLT4):c.3065C>T (p.Ala1022Val) variant DOID:1520 colon carcinoma IAGP D RGD:8554872 20180417 ClinVar ClinVar Annotator: match by term: Colonic carcinoma 10056646 CV200736 NM_182925.5(FLT4):c.3064del (p.Ala1022fs) variant DOID:1520 colon carcinoma IAGP D RGD:8554872 20180417 ClinVar ClinVar Annotator: match by term: Colonic carcinoma 10056647 CV200737 NM_182925.5(FLT4):c.3056del (p.Phe1019fs) variant DOID:1520 colon carcinoma IAGP D RGD:8554872 20180417 ClinVar ClinVar Annotator: match by term: Colonic carcinoma 10056648 CV200738 NM_182925.5(FLT4):c.3002-9A>C variant DOID:1520 colon carcinoma IAGP D RGD:8554872 20180417 ClinVar ClinVar Annotator: match by term: Colonic carcinoma 10056649 CV200753 NM_002019.4(FLT1):c.2439_2466del (p.Tyr815fs) variant DOID:1520 colon carcinoma IAGP D RGD:8554872 20180417 ClinVar ClinVar Annotator: match by term: Colonic carcinoma 10056650 CV185936 NM_000152.5(GAA):c.1437G>A (p.Lys479=) variant DOID:2752 glycogen storage disease II IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type II PMID:18425781|PMID:25243733|PMID:25741868|PMID:26160551|PMID:26873529 10056651 CV200792 NM_201384.3(PLEC):c.46C>T (p.Arg16Ter) variant DOID:9001254 Epidermolysis Bullosa Simplex 5D with Nail Dystrophy IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex with nail dystrophy PMID:25712130|PMID:25741868 10056651 CV200792 NM_201384.3(PLEC):c.46C>T (p.Arg16Ter) variant DOID:9003881 Epidermolysis Bullosa Simplex 5C with Pyloric Atresia IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5C, with pyloric atresia PMID:25712130|PMID:25741868 10056652 CV200878 NM_000612.6(IGF2):c.23C>A (p.Ser8Ter) variant DOID:9002163 Silver-Russell Syndrome 3 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Growth restriction, severe, with distinctive facies PMID:26154720 10056653 CV200879 NM_001130144.3(LTBP3):c.1859dup (p.Cys620fs) variant DOID:0090143 brachyolmia-amelogenesis imperfecta syndrome IAGP D RGD:8554872 20191112 ClinVar ClinVar Annotator: match by term: Verloes Bourguignon syndrome PMID:25899461 10056654 CV200880 NM_001130144.3(LTBP3):c.2071_2084del (p.Tyr691fs) variant DOID:0090143 brachyolmia-amelogenesis imperfecta syndrome IAGP D RGD:8554872 20220308 ClinVar ClinVar Annotator: match by term: Dental anomalies and short stature PMID:25669657 10056655 CV200881 NM_001130144.3(LTBP3):c.421C>T (p.Gln141Ter) variant DOID:0090143 brachyolmia-amelogenesis imperfecta syndrome IAGP D RGD:8554872 20180703 ClinVar ClinVar Annotator: match by term: Verloes Bourguignon syndrome PMID:25669657 10056656 CV200882 NM_001130144.3(LTBP3):c.1531+1G>T variant DOID:0090143 brachyolmia-amelogenesis imperfecta syndrome IAGP D RGD:8554872 20180703 ClinVar ClinVar Annotator: match by term: Verloes Bourguignon syndrome PMID:25669657 10056657 CV200883 NM_001130144.3(LTBP3):c.2216del (p.Gly739fs) variant DOID:0090143 brachyolmia-amelogenesis imperfecta syndrome IAGP D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Brachyolmia-amelogenesis imperfecta syndrome PMID:19213025|PMID:25669657|PMID:25741868 10056658 CV200884 NM_001130144.3(LTBP3):c.2356del (p.Val786fs) variant DOID:0090143 brachyolmia-amelogenesis imperfecta syndrome IAGP D RGD:8554872 20180703 ClinVar ClinVar Annotator: match by term: Verloes Bourguignon syndrome PMID:25669657 10056659 CV200885 NM_031924.8(RSPH3):c.190C>T (p.Gln64Ter) variant DOID:0110603 primary ciliary dyskinesia 32 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 32 PMID:26073779 10056661 CV200887 NM_031924.8(RSPH3):c.766C>T (p.Arg256Ter) variant DOID:0110603 primary ciliary dyskinesia 32 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 32 PMID:26073779 10056663 CV188044 NM_000372.5(TYR):c.902C>T (p.Pro301Leu) variant DOID:0070094 oculocutaneous albinism type IA IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Tyrosinase-negative oculocutaneous albinism PMID:25741868|PMID:26167114|PMID:28492532 10056664 CV188236 NM_001351132.2(PEX5):c.677dup (p.Val227fs) variant DOID:0110854 rhizomelic chondrodysplasia punctata type 5 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata type 5 PMID:26220973 10056664 CV188236 NM_001351132.2(PEX5):c.677dup (p.Val227fs) variant DOID:2580 rhizomelic chondrodysplasia punctata IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata PMID:26220973 10056666 CV200889 NM_031924.8(RSPH3):c.679C>T (p.Arg227Ter) variant DOID:0110603 primary ciliary dyskinesia 32 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 PMID:26073779 10056667 CV200970 NM_015909.4(NBAS):c.558_560del (p.Ile187del) variant DOID:9007272 Infantile Liver Failure Syndrome 2 IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Infantile liver failure syndrome 2 PMID:26073778 10056668 CV200971 NM_015909.4(NBAS):c.686dup (p.Ser230fs) variant DOID:0080778 transient infantile liver failure IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: LIVER FAILURE, INFANTILE, TRANSIENT PMID:25741868|PMID:26073778|PMID:26541327|PMID:27789416|PMID:28031453|PMID:28252636|PMID:28492532|PMID:30825388 10056668 CV200971 NM_015909.4(NBAS):c.686dup (p.Ser230fs) variant DOID:9002596 Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Short stature, optic nerve atrophy, and Pelger-Huet anomaly PMID:25741868|PMID:26073778|PMID:26541327|PMID:27789416|PMID:28031453|PMID:28252636|PMID:28492532|PMID:30825388 10056668 CV200971 NM_015909.4(NBAS):c.686dup (p.Ser230fs) variant DOID:9007272 Infantile Liver Failure Syndrome 2 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Infantile liver failure syndrome 2 PMID:25741868|PMID:26073778|PMID:26541327|PMID:27789416|PMID:28031453|PMID:28252636|PMID:28492532|PMID:30825388 10056669 CV200973 NM_015909.4(NBAS):c.603_605del (p.Leu202del) variant DOID:9002596 Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Short stature, optic nerve atrophy, and Pelger-Huet anomaly PMID:25741868|PMID:26073778|PMID:28031453|PMID:28492532|PMID:34386911 10056669 CV200973 NM_015909.4(NBAS):c.603_605del (p.Leu202del) variant DOID:9004429 Neurodevelopmental Disorders IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:26073778|PMID:28031453|PMID:28492532|PMID:34386911 10056669 CV200973 NM_015909.4(NBAS):c.603_605del (p.Leu202del) variant DOID:9007272 Infantile Liver Failure Syndrome 2 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Infantile liver failure syndrome 2 PMID:25741868|PMID:26073778|PMID:28031453|PMID:28492532|PMID:34386911 10056670 CV200974 NM_015909.4(NBAS):c.3164T>C (p.Leu1055Pro) variant DOID:9002596 Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly IAGP D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Short stature, optic nerve atrophy, and Pelger-Huet anomaly PMID:25741868|PMID:26073778 10056670 CV200974 NM_015909.4(NBAS):c.3164T>C (p.Leu1055Pro) variant DOID:9007272 Infantile Liver Failure Syndrome 2 IAGP D RGD:8554872 20190409 ClinVar ClinVar Annotator: match by term: Infantile liver failure syndrome 2 PMID:25741868|PMID:26073778 10056671 CV200975 NM_000263.4(NAGLU):c.1208T>C (p.Ile403Thr) variant DOID:0110178 Charcot-Marie-Tooth disease axonal type 2V IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal type 2V PMID:20852935|PMID:25818867|PMID:28492532 10056671 CV200975 NM_000263.4(NAGLU):c.1208T>C (p.Ile403Thr) variant DOID:0111394 mucopolysaccharidosis type IIIB IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-B PMID:20852935|PMID:25818867|PMID:28492532 10056672 CV200977 NM_203290.4(POLR1C):c.221A>G (p.Asn74Ser) variant DOID:0060792 hypomyelinating leukodystrophy 11 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 11 PMID:22855961|PMID:25741868|PMID:26151409|PMID:28492532|PMID:30505682|PMID:33804237|PMID:610060 10056673 CV200978 NM_203290.4(POLR1C):c.95A>T (p.Asn32Ile) variant DOID:0060792 hypomyelinating leukodystrophy 11 IAGP D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 11 PMID:22855961|PMID:25741868|PMID:26151409|PMID:610060 10056674 CV200979 NM_203290.4(POLR1C):c.436T>C (p.Cys146Arg) variant DOID:0060792 hypomyelinating leukodystrophy 11 IAGP D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 11 PMID:22855961|PMID:25741868|PMID:26151409|PMID:610060 10056676 CV200981 NM_203290.4(POLR1C):c.77C>T (p.Thr26Ile) variant DOID:0060792 hypomyelinating leukodystrophy 11 IAGP D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 11 PMID:22855961|PMID:25741868|PMID:26151409|PMID:610060 10056677 CV200982 NM_203290.4(POLR1C):c.326G>A (p.Arg109His) variant DOID:0060792 hypomyelinating leukodystrophy 11 IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 11 PMID:22855961|PMID:25741868|PMID:26151409|PMID:29644095|PMID:31019026|PMID:33597727|PMID:33804237|PMID:33888711|PMID:34645491|PMID:610060 10056677 CV200982 NM_203290.4(POLR1C):c.326G>A (p.Arg109His) variant DOID:0080791 Treacher Collins syndrome 3 IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Treacher Collins syndrome 3 PMID:22855961|PMID:25741868|PMID:26151409|PMID:29644095|PMID:31019026|PMID:33597727|PMID:33804237|PMID:33888711|PMID:34645491|PMID:610060 10056678 CV200983 NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) variant DOID:0050572 cone-rod dystrophy IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive PMID:20301500|PMID:24033266|PMID:25741868|PMID:25807282|PMID:26026149|PMID:26096313|PMID:26166481|PMID:26386044|PMID:26386247|PMID:26437029|PMID:28125082|PMID:28492532|PMID:29068549|PMID:30120217|PMID:32381069|PMID:32581362|PMID:36788019|PMID:39033378 10056678 CV200983 NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) variant DOID:0050777 Joubert syndrome IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Joubert syndrome PMID:20301500|PMID:24033266|PMID:25741868|PMID:25807282|PMID:26026149|PMID:26096313|PMID:26166481|PMID:26386044|PMID:26386247|PMID:26437029|PMID:28125082|PMID:28492532|PMID:29068549|PMID:30120217|PMID:32381069|PMID:32581362|PMID:36788019|PMID:39033378 10056678 CV200983 NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) variant DOID:0070338 cerebellar hypoplasia IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:20301500|PMID:24033266|PMID:25741868|PMID:25807282|PMID:26026149|PMID:26096313|PMID:26166481|PMID:26386044|PMID:26386247|PMID:26437029|PMID:28125082|PMID:28492532|PMID:29068549|PMID:30120217|PMID:32381069|PMID:32581362|PMID:36788019|PMID:39033378 10056678 CV200983 NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) variant DOID:0110096 short-rib thoracic dysplasia 14 with polydactyly IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Short-rib thoracic dysplasia 14 with polydactyly PMID:20301500|PMID:24033266|PMID:25741868|PMID:25807282|PMID:26026149|PMID:26096313|PMID:26166481|PMID:26386044|PMID:26386247|PMID:26437029|PMID:28125082|PMID:28492532|PMID:29068549|PMID:30120217|PMID:32381069|PMID:32581362|PMID:36788019|PMID:39033378 10056678 CV200983 NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) variant DOID:0110980 Joubert syndrome 1 IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis PMID:20301500|PMID:24033266|PMID:25741868|PMID:25807282|PMID:26026149|PMID:26096313|PMID:26166481|PMID:26386044|PMID:26386247|PMID:26437029|PMID:28125082|PMID:28492532|PMID:29068549|PMID:30120217|PMID:32381069|PMID:32581362|PMID:36788019|PMID:39033378 10056678 CV200983 NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) variant DOID:0110992 Joubert syndrome 23 IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Joubert syndrome 23 PMID:20301500|PMID:24033266|PMID:25741868|PMID:25807282|PMID:26026149|PMID:26096313|PMID:26166481|PMID:26386044|PMID:26386247|PMID:26437029|PMID:28125082|PMID:28492532|PMID:29068549|PMID:30120217|PMID:32381069|PMID:32581362|PMID:36788019|PMID:39033378 10056678 CV200983 NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) variant DOID:1059 intellectual disability IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:20301500|PMID:24033266|PMID:25741868|PMID:25807282|PMID:26026149|PMID:26096313|PMID:26166481|PMID:26386044|PMID:26386247|PMID:26437029|PMID:28125082|PMID:28492532|PMID:29068549|PMID:30120217|PMID:32381069|PMID:32581362|PMID:36788019|PMID:39033378 10056678 CV200983 NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) variant DOID:630 genetic disease IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:20301500|PMID:24033266|PMID:25741868|PMID:25807282|PMID:26026149|PMID:26096313|PMID:26166481|PMID:26386044|PMID:26386247|PMID:26437029|PMID:28125082|PMID:28492532|PMID:29068549|PMID:30120217|PMID:32381069|PMID:32581362|PMID:36788019|PMID:39033378 10056678 CV200983 NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:20301500|PMID:24033266|PMID:25741868|PMID:25807282|PMID:26026149|PMID:26096313|PMID:26166481|PMID:26386044|PMID:26386247|PMID:26437029|PMID:28125082|PMID:28492532|PMID:29068549|PMID:30120217|PMID:32381069|PMID:32581362|PMID:36788019|PMID:39033378 10056679 CV200984 NM_001329943.3(KIAA0586):c.1254-1G>C variant DOID:0110992 Joubert syndrome 23 IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Joubert syndrome 23 PMID:25741868|PMID:26026149|PMID:26096313|PMID:26386044|PMID:26437029|PMID:28492532|PMID:28497568 10056680 CV200985 NM_001329943.3(KIAA0586):c.1000C>T (p.Gln334Ter) variant DOID:0110096 short-rib thoracic dysplasia 14 with polydactyly IAGP D RGD:8554872 20240227 ClinVar ClinVar Annotator: match by term: KIAA0586-related condition PMID:25741868|PMID:26096313 10056680 CV200985 NM_001329943.3(KIAA0586):c.1000C>T (p.Gln334Ter) variant DOID:0110992 Joubert syndrome 23 IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Joubert syndrome 23 PMID:25741868|PMID:26096313 10056681 CV200986 NM_001329943.3(KIAA0586):c.704_705del (p.Gln235fs) variant DOID:0070338 cerebellar hypoplasia IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Congenital cerebellar hypoplasia PMID:25741868|PMID:26096313|PMID:26166481|PMID:26386044|PMID:28492532|PMID:32581362 10056681 CV200986 NM_001329943.3(KIAA0586):c.704_705del (p.Gln235fs) variant DOID:0110992 Joubert syndrome 23 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Joubert syndrome 23 PMID:25741868|PMID:26096313|PMID:26166481|PMID:26386044|PMID:28492532|PMID:32581362 10056681 CV200986 NM_001329943.3(KIAA0586):c.704_705del (p.Gln235fs) variant DOID:9004429 Neurodevelopmental Disorders IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Neurodevelopmental disorder PMID:25741868|PMID:26096313|PMID:26166481|PMID:26386044|PMID:28492532|PMID:32581362 10056682 CV200993 NM_000156.6(GAMT):c.*11C>T variant DOID:0050799 guanidinoacetate methyltransferase deficiency IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 PMID:25741868 10056683 CV200995 NM_000310.4(PPT1):c.*6G>A variant DOID:0110721 neuronal ceroid lipofuscinosis 1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: PPT1-related condition 10056684 CV200996 NM_001083962.2(TCF4):c.*22G>A variant DOID:0060488 Pitt-Hopkins syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Pitt-Hopkins syndrome 10056685 CV196824 NM_000384.3(APOB):c.1298C>T (p.Ala433Val) variant DOID:0111062 familial hypobetalipoproteinemia 1 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Familial hypobetalipoproteinemia 1 PMID:28492532 10056685 CV196824 NM_000384.3(APOB):c.1298C>T (p.Ala433Val) variant DOID:13809 familial combined hyperlipidemia IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb PMID:28492532 10056685 CV196824 NM_000384.3(APOB):c.1298C>T (p.Ala433Val) variant DOID:9000699 Familial Hypercholesterolemia due to Ligand-Defective Apolipoprotein B IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LIGAND-DEFECTIVE APOLIPOPROTEIN B PMID:28492532 10056685 CV196824 NM_000384.3(APOB):c.1298C>T (p.Ala433Val) variant DOID:9005519 Hyperlipoproteinemia Type II IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B PMID:28492532 10056686 CV196823 NM_000384.3(APOB):c.1661C>T (p.Pro554Leu) variant DOID:0111062 familial hypobetalipoproteinemia 1 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial hypobetalipoproteinemia 1 PMID:22534770|PMID:25741868|PMID:26467025|PMID:28492532 10056686 CV196823 NM_000384.3(APOB):c.1661C>T (p.Pro554Leu) variant DOID:13809 familial combined hyperlipidemia IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb PMID:22534770|PMID:25741868|PMID:26467025|PMID:28492532 10056686 CV196823 NM_000384.3(APOB):c.1661C>T (p.Pro554Leu) variant DOID:13810 familial hypercholesterolemia IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:22534770|PMID:25741868|PMID:26467025|PMID:28492532 10056686 CV196823 NM_000384.3(APOB):c.1661C>T (p.Pro554Leu) variant DOID:9000699 Familial Hypercholesterolemia due to Ligand-Defective Apolipoprotein B IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LIGAND-DEFECTIVE APOLIPOPROTEIN B PMID:22534770|PMID:25741868|PMID:26467025|PMID:28492532 10056686 CV196823 NM_000384.3(APOB):c.1661C>T (p.Pro554Leu) variant DOID:9005519 Hyperlipoproteinemia Type II IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B PMID:22534770|PMID:25741868|PMID:26467025|PMID:28492532 10056687 CV196500 NM_000069.3(CACNA1S):c.530C>T (p.Ser177Leu) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:24033266|PMID:25637381|PMID:25741868|PMID:28492532 10056687 CV196500 NM_000069.3(CACNA1S):c.530C>T (p.Ser177Leu) variant DOID:8545 malignant hyperthermia IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Malignant hyperthermia PMID:24033266|PMID:25637381|PMID:25741868|PMID:28492532 10056687 CV196500 NM_000069.3(CACNA1S):c.530C>T (p.Ser177Leu) variant DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:24033266|PMID:25637381|PMID:25741868|PMID:28492532 10056688 CV196499 NM_000069.3(CACNA1S):c.1586G>T (p.Cys529Phe) variant DOID:8545 malignant hyperthermia IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5 PMID:25741868|PMID:28492532 10056688 CV196499 NM_000069.3(CACNA1S):c.1586G>T (p.Cys529Phe) variant DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:25741868|PMID:28492532 10056689 CV196496 NM_000069.3(CACNA1S):c.5005G>A (p.Ala1669Thr) variant DOID:8545 malignant hyperthermia IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 5 PMID:25741868|PMID:28492532 10056689 CV196496 NM_000069.3(CACNA1S):c.5005G>A (p.Ala1669Thr) variant DOID:9004296 Hypokalemic Periodic Paralysis, Type 1 IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1 PMID:25741868|PMID:28492532 10056690 CV197045 NM_004415.4(DSP):c.1731G>A (p.Met577Ile) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532|PMID:33874732 10056690 CV197045 NM_004415.4(DSP):c.1731G>A (p.Met577Ile) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair PMID:25741868|PMID:28492532|PMID:33874732 10056690 CV197045 NM_004415.4(DSP):c.1731G>A (p.Met577Ile) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 8 PMID:25741868|PMID:28492532|PMID:33874732 10056691 CV197064 NM_004415.4(DSP):c.3616T>A (p.Leu1206Ile) variant DOID:0050431 arrhythmogenic right ventricular cardiomyopathy IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy PMID:25741868|PMID:28492532|PMID:29253866 10056691 CV197064 NM_004415.4(DSP):c.3616T>A (p.Leu1206Ile) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532|PMID:29253866 10056691 CV197064 NM_004415.4(DSP):c.3616T>A (p.Leu1206Ile) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma PMID:25741868|PMID:28492532|PMID:29253866 10056691 CV197064 NM_004415.4(DSP):c.3616T>A (p.Leu1206Ile) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8 PMID:25741868|PMID:28492532|PMID:29253866 10056691 CV197064 NM_004415.4(DSP):c.3616T>A (p.Leu1206Ile) variant DOID:0110454 dilated cardiomyopathy 1S IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1S PMID:25741868|PMID:28492532|PMID:29253866 10056692 CV197079 NM_004415.4(DSP):c.4943A>G (p.Gln1648Arg) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:24125834|PMID:25741868|PMID:28492532 10056692 CV197079 NM_004415.4(DSP):c.4943A>G (p.Gln1648Arg) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma PMID:24125834|PMID:25741868|PMID:28492532 10056692 CV197079 NM_004415.4(DSP):c.4943A>G (p.Gln1648Arg) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8 PMID:24125834|PMID:25741868|PMID:28492532 10056693 CV197081 NM_004415.4(DSP):c.4997G>A (p.Arg1666Gln) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:25351510|PMID:25741868|PMID:28492532|PMID:30165862 10056693 CV197081 NM_004415.4(DSP):c.4997G>A (p.Arg1666Gln) variant DOID:0070554 palmoplantar keratoderma and woolly hair IAGP D RGD:8554872 20230620 ClinVar ClinVar Annotator: match by term: Skin fragility woolly hair syndrome PMID:25351510|PMID:25741868|PMID:28492532|PMID:30165862 10056693 CV197081 NM_004415.4(DSP):c.4997G>A (p.Arg1666Gln) variant DOID:0081109 keratosis palmoplantaris striata 2 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Keratosis palmoplantaris striata II PMID:25351510|PMID:25741868|PMID:28492532|PMID:30165862 10056693 CV197081 NM_004415.4(DSP):c.4997G>A (p.Arg1666Gln) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy PMID:25351510|PMID:25741868|PMID:28492532|PMID:30165862 10056693 CV197081 NM_004415.4(DSP):c.4997G>A (p.Arg1666Gln) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 8 PMID:25351510|PMID:25741868|PMID:28492532|PMID:30165862 10056693 CV197081 NM_004415.4(DSP):c.4997G>A (p.Arg1666Gln) variant DOID:9002630 Epidermolysis Bullosa, Lethal Acantholytic IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lethal acantholytic epidermolysis bullosa PMID:25351510|PMID:25741868|PMID:28492532|PMID:30165862 10056693 CV197081 NM_004415.4(DSP):c.4997G>A (p.Arg1666Gln) variant DOID:9004026 Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis PMID:25351510|PMID:25741868|PMID:28492532|PMID:30165862 10056695 CV197091 NM_004415.4(DSP):c.5707C>A (p.Gln1903Lys) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Cardiomyopathy dilated with woolly hair and keratoderma PMID:28492532 10056695 CV197091 NM_004415.4(DSP):c.5707C>A (p.Gln1903Lys) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 8 PMID:28492532 10056696 CV197092 NM_004415.4(DSP):c.5779C>G (p.Gln1927Glu) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532 10056696 CV197092 NM_004415.4(DSP):c.5779C>G (p.Gln1927Glu) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma PMID:24033266|PMID:25741868|PMID:28492532 10056696 CV197092 NM_004415.4(DSP):c.5779C>G (p.Gln1927Glu) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8 PMID:24033266|PMID:25741868|PMID:28492532 10056698 CV197023 NM_004415.4(DSP):c.273+1G>A variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:16199547|PMID:20716751|PMID:24503780|PMID:25227139|PMID:25741868|PMID:28492532 10056698 CV197023 NM_004415.4(DSP):c.273+1G>A variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma PMID:16199547|PMID:20716751|PMID:24503780|PMID:25227139|PMID:25741868|PMID:28492532 10056698 CV197023 NM_004415.4(DSP):c.273+1G>A variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 8 PMID:16199547|PMID:20716751|PMID:24503780|PMID:25227139|PMID:25741868|PMID:28492532 10056699 CV197024 NM_004415.4(DSP):c.273+3A>G variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:17576681|PMID:25741868|PMID:28492532|PMID:34352074|PMID:9536098 10056699 CV197024 NM_004415.4(DSP):c.273+3A>G variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Carvajal syndrome PMID:17576681|PMID:25741868|PMID:28492532|PMID:34352074|PMID:9536098 10056699 CV197024 NM_004415.4(DSP):c.273+3A>G variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 8 PMID:17576681|PMID:25741868|PMID:28492532|PMID:34352074|PMID:9536098 10056700 CV197025 NM_004415.4(DSP):c.424C>T (p.Leu142Phe) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:25741868|PMID:28492532|PMID:29334134|PMID:29420653|PMID:31983221|PMID:37652022 10056700 CV197025 NM_004415.4(DSP):c.424C>T (p.Leu142Phe) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma PMID:25741868|PMID:28492532|PMID:29334134|PMID:29420653|PMID:31983221|PMID:37652022 10056700 CV197025 NM_004415.4(DSP):c.424C>T (p.Leu142Phe) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 8 PMID:25741868|PMID:28492532|PMID:29334134|PMID:29420653|PMID:31983221|PMID:37652022 10056702 CV197027 NM_004415.4(DSP):c.521G>T (p.Cys174Phe) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:25741868|PMID:27532257|PMID:28492532|PMID:30847666|PMID:33029862|PMID:33722762 10056702 CV197027 NM_004415.4(DSP):c.521G>T (p.Cys174Phe) variant DOID:0070554 palmoplantar keratoderma and woolly hair IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Woolly hair-skin fragility syndrome PMID:25741868|PMID:27532257|PMID:28492532|PMID:30847666|PMID:33029862|PMID:33722762 10056702 CV197027 NM_004415.4(DSP):c.521G>T (p.Cys174Phe) variant DOID:0081109 keratosis palmoplantaris striata 2 IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Keratosis palmoplantaris striata II PMID:25741868|PMID:27532257|PMID:28492532|PMID:30847666|PMID:33029862|PMID:33722762 10056702 CV197027 NM_004415.4(DSP):c.521G>T (p.Cys174Phe) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma PMID:25741868|PMID:27532257|PMID:28492532|PMID:30847666|PMID:33029862|PMID:33722762 10056702 CV197027 NM_004415.4(DSP):c.521G>T (p.Cys174Phe) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 8 PMID:25741868|PMID:27532257|PMID:28492532|PMID:30847666|PMID:33029862|PMID:33722762 10056702 CV197027 NM_004415.4(DSP):c.521G>T (p.Cys174Phe) variant DOID:9002630 Epidermolysis Bullosa, Lethal Acantholytic IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Lethal acantholytic epidermolysis bullosa PMID:25741868|PMID:27532257|PMID:28492532|PMID:30847666|PMID:33029862|PMID:33722762 10056702 CV197027 NM_004415.4(DSP):c.521G>T (p.Cys174Phe) variant DOID:9004026 Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis PMID:25741868|PMID:27532257|PMID:28492532|PMID:30847666|PMID:33029862|PMID:33722762 10056703 CV197028 NM_004415.4(DSP):c.616G>A (p.Ala206Thr) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:25693453|PMID:25741868|PMID:28492532 10056703 CV197028 NM_004415.4(DSP):c.616G>A (p.Ala206Thr) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Carvajal syndrome PMID:25693453|PMID:25741868|PMID:28492532 10056703 CV197028 NM_004415.4(DSP):c.616G>A (p.Ala206Thr) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 8 PMID:25693453|PMID:25741868|PMID:28492532 10056705 CV197030 NM_004415.4(DSP):c.852G>A (p.Met284Ile) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Carvajal syndrome PMID:28492532 10056705 CV197030 NM_004415.4(DSP):c.852G>A (p.Met284Ile) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 8 PMID:28492532 10056706 CV197032 NM_004415.4(DSP):c.888C>G (p.Tyr296Ter) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:20716751|PMID:24503780|PMID:25227139|PMID:25741868|PMID:28492532 10056706 CV197032 NM_004415.4(DSP):c.888C>G (p.Tyr296Ter) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma PMID:20716751|PMID:24503780|PMID:25227139|PMID:25741868|PMID:28492532 10056706 CV197032 NM_004415.4(DSP):c.888C>G (p.Tyr296Ter) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 8 PMID:20716751|PMID:24503780|PMID:25227139|PMID:25741868|PMID:28492532 10056707 CV197038 NM_004415.4(DSP):c.1141-2A>G variant DOID:0110077 arrhythmogenic right ventricular dysplasia 9 IAGP D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9 PMID:25741868 10056708 CV197035 NM_004415.4(DSP):c.1012C>T (p.Leu338Phe) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10056708 CV197035 NM_004415.4(DSP):c.1012C>T (p.Leu338Phe) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma PMID:25741868|PMID:28492532 10056708 CV197035 NM_004415.4(DSP):c.1012C>T (p.Leu338Phe) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 8 PMID:25741868|PMID:28492532 10056709 CV197036 NM_004415.4(DSP):c.1067C>A (p.Thr356Lys) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:25227139|PMID:25741868|PMID:26399581|PMID:28492532|PMID:33874732|PMID:34317553|PMID:34352074|PMID:36768812 10056709 CV197036 NM_004415.4(DSP):c.1067C>A (p.Thr356Lys) variant DOID:0070554 palmoplantar keratoderma and woolly hair IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Woolly hair-skin fragility syndrome PMID:25227139|PMID:25741868|PMID:26399581|PMID:28492532|PMID:33874732|PMID:34317553|PMID:34352074|PMID:36768812 10056709 CV197036 NM_004415.4(DSP):c.1067C>A (p.Thr356Lys) variant DOID:0081109 keratosis palmoplantaris striata 2 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Keratosis palmoplantaris striata 2 PMID:25227139|PMID:25741868|PMID:26399581|PMID:28492532|PMID:33874732|PMID:34317553|PMID:34352074|PMID:36768812 10056709 CV197036 NM_004415.4(DSP):c.1067C>A (p.Thr356Lys) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma PMID:25227139|PMID:25741868|PMID:26399581|PMID:28492532|PMID:33874732|PMID:34317553|PMID:34352074|PMID:36768812 10056709 CV197036 NM_004415.4(DSP):c.1067C>A (p.Thr356Lys) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 8 PMID:25227139|PMID:25741868|PMID:26399581|PMID:28492532|PMID:33874732|PMID:34317553|PMID:34352074|PMID:36768812 10056709 CV197036 NM_004415.4(DSP):c.1067C>A (p.Thr356Lys) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:25227139|PMID:25741868|PMID:26399581|PMID:28492532|PMID:33874732|PMID:34317553|PMID:34352074|PMID:36768812 10056709 CV197036 NM_004415.4(DSP):c.1067C>A (p.Thr356Lys) variant DOID:9002630 Epidermolysis Bullosa, Lethal Acantholytic IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Lethal acantholytic epidermolysis bullosa PMID:25227139|PMID:25741868|PMID:26399581|PMID:28492532|PMID:33874732|PMID:34317553|PMID:34352074|PMID:36768812 10056709 CV197036 NM_004415.4(DSP):c.1067C>A (p.Thr356Lys) variant DOID:9004026 Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis PMID:25227139|PMID:25741868|PMID:26399581|PMID:28492532|PMID:33874732|PMID:34317553|PMID:34352074|PMID:36768812 10056710 CV197037 NM_004415.4(DSP):c.1102A>T (p.Ile368Phe) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10056710 CV197037 NM_004415.4(DSP):c.1102A>T (p.Ile368Phe) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma PMID:25741868|PMID:28492532 10056710 CV197037 NM_004415.4(DSP):c.1102A>T (p.Ile368Phe) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 8 PMID:25741868|PMID:28492532 10056711 CV197040 NM_004415.4(DSP):c.1426G>A (p.Val476Met) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10056711 CV197040 NM_004415.4(DSP):c.1426G>A (p.Val476Met) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma PMID:25741868|PMID:28492532 10056711 CV197040 NM_004415.4(DSP):c.1426G>A (p.Val476Met) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 8 PMID:25741868|PMID:28492532 10056712 CV197041 NM_004415.4(DSP):c.1468C>T (p.Arg490Cys) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:25741868|PMID:28492532|PMID:30699244 10056712 CV197041 NM_004415.4(DSP):c.1468C>T (p.Arg490Cys) variant DOID:0070554 palmoplantar keratoderma and woolly hair IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Woolly hair-skin fragility syndrome PMID:25741868|PMID:28492532|PMID:30699244 10056712 CV197041 NM_004415.4(DSP):c.1468C>T (p.Arg490Cys) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma PMID:25741868|PMID:28492532|PMID:30699244 10056712 CV197041 NM_004415.4(DSP):c.1468C>T (p.Arg490Cys) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 8 PMID:25741868|PMID:28492532|PMID:30699244 10056712 CV197041 NM_004415.4(DSP):c.1468C>T (p.Arg490Cys) variant DOID:9002630 Epidermolysis Bullosa, Lethal Acantholytic IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Lethal acantholytic epidermolysis bullosa PMID:25741868|PMID:28492532|PMID:30699244 10056714 CV197043 NM_004415.4(DSP):c.1611G>A (p.Trp537Ter) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma PMID:20716751|PMID:24503780|PMID:25227139|PMID:28492532 10056714 CV197043 NM_004415.4(DSP):c.1611G>A (p.Trp537Ter) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 8 PMID:20716751|PMID:24503780|PMID:25227139|PMID:28492532 10056716 CV197046 NM_004415.4(DSP):c.2027G>A (p.Arg676His) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10056716 CV197046 NM_004415.4(DSP):c.2027G>A (p.Arg676His) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma PMID:25741868|PMID:28492532 10056716 CV197046 NM_004415.4(DSP):c.2027G>A (p.Arg676His) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8 PMID:25741868|PMID:28492532 10056717 CV197047 NM_004415.4(DSP):c.2182G>C (p.Asp728His) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Carvajal syndrome PMID:25741868 10056719 CV197049 NM_004415.4(DSP):c.2360A>C (p.Tyr787Ser) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma PMID:25741868|PMID:28492532|PMID:31024045 10056719 CV197049 NM_004415.4(DSP):c.2360A>C (p.Tyr787Ser) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 8 PMID:25741868|PMID:28492532|PMID:31024045 10056720 CV197050 NM_004415.4(DSP):c.2468C>T (p.Ser823Leu) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:25741868|PMID:28492532|PMID:30847666 10056720 CV197050 NM_004415.4(DSP):c.2468C>T (p.Ser823Leu) variant DOID:0070554 palmoplantar keratoderma and woolly hair IAGP D RGD:8554872 20230620 ClinVar ClinVar Annotator: match by term: Skin fragility woolly hair syndrome PMID:25741868|PMID:28492532|PMID:30847666 10056720 CV197050 NM_004415.4(DSP):c.2468C>T (p.Ser823Leu) variant DOID:0081109 keratosis palmoplantaris striata 2 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Keratosis palmoplantaris striata II PMID:25741868|PMID:28492532|PMID:30847666 10056720 CV197050 NM_004415.4(DSP):c.2468C>T (p.Ser823Leu) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma PMID:25741868|PMID:28492532|PMID:30847666 10056720 CV197050 NM_004415.4(DSP):c.2468C>T (p.Ser823Leu) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 8 PMID:25741868|PMID:28492532|PMID:30847666 10056720 CV197050 NM_004415.4(DSP):c.2468C>T (p.Ser823Leu) variant DOID:9002630 Epidermolysis Bullosa, Lethal Acantholytic IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lethal acantholytic epidermolysis bullosa PMID:25741868|PMID:28492532|PMID:30847666 10056720 CV197050 NM_004415.4(DSP):c.2468C>T (p.Ser823Leu) variant DOID:9004026 Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis PMID:25741868|PMID:28492532|PMID:30847666 10056721 CV197051 NM_004415.4(DSP):c.2552T>A (p.Leu851Gln) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:16917092|PMID:25741868|PMID:26604139|PMID:27332903|PMID:28492532|PMID:29062697|PMID:37589201 10056721 CV197051 NM_004415.4(DSP):c.2552T>A (p.Leu851Gln) variant DOID:0070554 palmoplantar keratoderma and woolly hair IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Woolly hair-skin fragility syndrome PMID:16917092|PMID:25741868|PMID:26604139|PMID:27332903|PMID:28492532|PMID:29062697|PMID:37589201 10056721 CV197051 NM_004415.4(DSP):c.2552T>A (p.Leu851Gln) variant DOID:0081109 keratosis palmoplantaris striata 2 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Keratosis palmoplantaris striata II PMID:16917092|PMID:25741868|PMID:26604139|PMID:27332903|PMID:28492532|PMID:29062697|PMID:37589201 10056721 CV197051 NM_004415.4(DSP):c.2552T>A (p.Leu851Gln) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma PMID:16917092|PMID:25741868|PMID:26604139|PMID:27332903|PMID:28492532|PMID:29062697|PMID:37589201 10056721 CV197051 NM_004415.4(DSP):c.2552T>A (p.Leu851Gln) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 8 PMID:16917092|PMID:25741868|PMID:26604139|PMID:27332903|PMID:28492532|PMID:29062697|PMID:37589201 10056721 CV197051 NM_004415.4(DSP):c.2552T>A (p.Leu851Gln) variant DOID:9002630 Epidermolysis Bullosa, Lethal Acantholytic IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Lethal acantholytic epidermolysis bullosa PMID:16917092|PMID:25741868|PMID:26604139|PMID:27332903|PMID:28492532|PMID:29062697|PMID:37589201 10056721 CV197051 NM_004415.4(DSP):c.2552T>A (p.Leu851Gln) variant DOID:9004026 Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis PMID:16917092|PMID:25741868|PMID:26604139|PMID:27332903|PMID:28492532|PMID:29062697|PMID:37589201 10056722 CV197052 NM_004415.4(DSP):c.2617C>T (p.Gln873Ter) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma PMID:20716751|PMID:24503780|PMID:25227139|PMID:28492532 10056722 CV197052 NM_004415.4(DSP):c.2617C>T (p.Gln873Ter) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 8 PMID:20716751|PMID:24503780|PMID:25227139|PMID:28492532 10056723 CV197053 NM_004415.4(DSP):c.2622C>G (p.Ile874Met) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:25741868|PMID:28492532|PMID:32826072 10056723 CV197053 NM_004415.4(DSP):c.2622C>G (p.Ile874Met) variant DOID:0070554 palmoplantar keratoderma and woolly hair IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Woolly hair-skin fragility syndrome PMID:25741868|PMID:28492532|PMID:32826072 10056723 CV197053 NM_004415.4(DSP):c.2622C>G (p.Ile874Met) variant DOID:0081109 keratosis palmoplantaris striata 2 IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Keratosis palmoplantaris striata II PMID:25741868|PMID:28492532|PMID:32826072 10056723 CV197053 NM_004415.4(DSP):c.2622C>G (p.Ile874Met) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma PMID:25741868|PMID:28492532|PMID:32826072 10056723 CV197053 NM_004415.4(DSP):c.2622C>G (p.Ile874Met) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 8 PMID:25741868|PMID:28492532|PMID:32826072 10056723 CV197053 NM_004415.4(DSP):c.2622C>G (p.Ile874Met) variant DOID:9002630 Epidermolysis Bullosa, Lethal Acantholytic IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Lethal acantholytic epidermolysis bullosa PMID:25741868|PMID:28492532|PMID:32826072 10056723 CV197053 NM_004415.4(DSP):c.2622C>G (p.Ile874Met) variant DOID:9004026 Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis PMID:25741868|PMID:28492532|PMID:32826072 10056724 CV197054 NM_004415.4(DSP):c.2644G>T (p.Glu882Ter) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma PMID:20716751|PMID:24503780|PMID:25227139|PMID:28492532 10056724 CV197054 NM_004415.4(DSP):c.2644G>T (p.Glu882Ter) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 8 PMID:20716751|PMID:24503780|PMID:25227139|PMID:28492532 10056725 CV197056 NM_004415.4(DSP):c.2765C>T (p.Thr922Ile) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:25741868|PMID:28492532 10056725 CV197056 NM_004415.4(DSP):c.2765C>T (p.Thr922Ile) variant DOID:0070554 palmoplantar keratoderma and woolly hair IAGP D RGD:8554872 20230620 ClinVar ClinVar Annotator: match by term: Skin fragility woolly hair syndrome PMID:25741868|PMID:28492532 10056725 CV197056 NM_004415.4(DSP):c.2765C>T (p.Thr922Ile) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair PMID:25741868|PMID:28492532 10056725 CV197056 NM_004415.4(DSP):c.2765C>T (p.Thr922Ile) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 8 PMID:25741868|PMID:28492532 10056725 CV197056 NM_004415.4(DSP):c.2765C>T (p.Thr922Ile) variant DOID:9002630 Epidermolysis Bullosa, Lethal Acantholytic IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lethal acantholytic epidermolysis bullosa PMID:25741868|PMID:28492532 10056726 CV197057 NM_004415.4(DSP):c.2774G>A (p.Arg925Gln) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:26383259|PMID:26743238|PMID:28492532|PMID:31333075|PMID:31568572 10056726 CV197057 NM_004415.4(DSP):c.2774G>A (p.Arg925Gln) variant DOID:0070554 palmoplantar keratoderma and woolly hair IAGP D RGD:8554872 20230620 ClinVar ClinVar Annotator: match by term: Skin fragility woolly hair syndrome PMID:24033266|PMID:25741868|PMID:26383259|PMID:26743238|PMID:28492532|PMID:31333075|PMID:31568572 10056726 CV197057 NM_004415.4(DSP):c.2774G>A (p.Arg925Gln) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma PMID:24033266|PMID:25741868|PMID:26383259|PMID:26743238|PMID:28492532|PMID:31333075|PMID:31568572 10056726 CV197057 NM_004415.4(DSP):c.2774G>A (p.Arg925Gln) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 8 PMID:24033266|PMID:25741868|PMID:26383259|PMID:26743238|PMID:28492532|PMID:31333075|PMID:31568572 10056726 CV197057 NM_004415.4(DSP):c.2774G>A (p.Arg925Gln) variant DOID:397 restrictive cardiomyopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Familial restrictive cardiomyopathy PMID:24033266|PMID:25741868|PMID:26383259|PMID:26743238|PMID:28492532|PMID:31333075|PMID:31568572 10056726 CV197057 NM_004415.4(DSP):c.2774G>A (p.Arg925Gln) variant DOID:9002630 Epidermolysis Bullosa, Lethal Acantholytic IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lethal acantholytic epidermolysis bullosa PMID:24033266|PMID:25741868|PMID:26383259|PMID:26743238|PMID:28492532|PMID:31333075|PMID:31568572 10056728 CV197059 NM_004415.4(DSP):c.2985G>A (p.Glu995=) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 10056728 CV197059 NM_004415.4(DSP):c.2985G>A (p.Glu995=) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 10056728 CV197059 NM_004415.4(DSP):c.2985G>A (p.Glu995=) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 8 PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098 10056729 CV197065 NM_004415.4(DSP):c.3661A>G (p.Ile1221Val) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:25741868|PMID:28492532 10056729 CV197065 NM_004415.4(DSP):c.3661A>G (p.Ile1221Val) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Carvajal syndrome PMID:25741868|PMID:28492532 10056729 CV197065 NM_004415.4(DSP):c.3661A>G (p.Ile1221Val) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 8 PMID:25741868|PMID:28492532 10056730 CV197066 NM_004415.4(DSP):c.3701A>G (p.Asn1234Ser) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20200107 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10056730 CV197066 NM_004415.4(DSP):c.3701A>G (p.Asn1234Ser) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma PMID:25741868|PMID:28492532 10056730 CV197066 NM_004415.4(DSP):c.3701A>G (p.Asn1234Ser) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 8 PMID:25741868|PMID:28492532 10056730 CV197066 NM_004415.4(DSP):c.3701A>G (p.Asn1234Ser) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532 10056731 CV197067 NM_004415.4(DSP):c.3715C>T (p.Leu1239Phe) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10056731 CV197067 NM_004415.4(DSP):c.3715C>T (p.Leu1239Phe) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma PMID:25741868|PMID:28492532 10056731 CV197067 NM_004415.4(DSP):c.3715C>T (p.Leu1239Phe) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8 PMID:25741868|PMID:28492532 10056732 CV197071 NM_004415.4(DSP):c.3805C>T (p.Arg1269Ter) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:20716751|PMID:23137101|PMID:24503780|PMID:24704780|PMID:25227139|PMID:25741868|PMID:26383259|PMID:28436997|PMID:28492532|PMID:29062697|PMID:31402444|PMID:31447099|PMID:34930020 10056732 CV197071 NM_004415.4(DSP):c.3805C>T (p.Arg1269Ter) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma PMID:20716751|PMID:23137101|PMID:24503780|PMID:24704780|PMID:25227139|PMID:25741868|PMID:26383259|PMID:28436997|PMID:28492532|PMID:29062697|PMID:31402444|PMID:31447099|PMID:34930020 10056732 CV197071 NM_004415.4(DSP):c.3805C>T (p.Arg1269Ter) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 8 PMID:20716751|PMID:23137101|PMID:24503780|PMID:24704780|PMID:25227139|PMID:25741868|PMID:26383259|PMID:28436997|PMID:28492532|PMID:29062697|PMID:31402444|PMID:31447099|PMID:34930020 10056734 CV197075 NM_004415.4(DSP):c.4175G>A (p.Arg1392Gln) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:25741868|PMID:26406308|PMID:27153395|PMID:28492532|PMID:31983221|PMID:37652022 10056734 CV197075 NM_004415.4(DSP):c.4175G>A (p.Arg1392Gln) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma PMID:25741868|PMID:26406308|PMID:27153395|PMID:28492532|PMID:31983221|PMID:37652022 10056734 CV197075 NM_004415.4(DSP):c.4175G>A (p.Arg1392Gln) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 8 PMID:25741868|PMID:26406308|PMID:27153395|PMID:28492532|PMID:31983221|PMID:37652022 10056735 CV197076 NM_004415.4(DSP):c.4198C>T (p.Arg1400Ter) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:20716751|PMID:24125834|PMID:24503780|PMID:25227139|PMID:25516398|PMID:25741868|PMID:28492532|PMID:29062697|PMID:29178656|PMID:29633331|PMID:30382575|PMID:33996946 10056735 CV197076 NM_004415.4(DSP):c.4198C>T (p.Arg1400Ter) variant DOID:0070554 palmoplantar keratoderma and woolly hair IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Woolly hair-skin fragility syndrome PMID:20716751|PMID:24125834|PMID:24503780|PMID:25227139|PMID:25516398|PMID:25741868|PMID:28492532|PMID:29062697|PMID:29178656|PMID:29633331|PMID:30382575|PMID:33996946 10056735 CV197076 NM_004415.4(DSP):c.4198C>T (p.Arg1400Ter) variant DOID:0081109 keratosis palmoplantaris striata 2 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Keratosis palmoplantaris striata 2 PMID:20716751|PMID:24125834|PMID:24503780|PMID:25227139|PMID:25516398|PMID:25741868|PMID:28492532|PMID:29062697|PMID:29178656|PMID:29633331|PMID:30382575|PMID:33996946 10056735 CV197076 NM_004415.4(DSP):c.4198C>T (p.Arg1400Ter) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma PMID:20716751|PMID:24125834|PMID:24503780|PMID:25227139|PMID:25516398|PMID:25741868|PMID:28492532|PMID:29062697|PMID:29178656|PMID:29633331|PMID:30382575|PMID:33996946 10056735 CV197076 NM_004415.4(DSP):c.4198C>T (p.Arg1400Ter) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 8 PMID:20716751|PMID:24125834|PMID:24503780|PMID:25227139|PMID:25516398|PMID:25741868|PMID:28492532|PMID:29062697|PMID:29178656|PMID:29633331|PMID:30382575|PMID:33996946 10056735 CV197076 NM_004415.4(DSP):c.4198C>T (p.Arg1400Ter) variant DOID:0110425 dilated cardiomyopathy 1A IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:20716751|PMID:24125834|PMID:24503780|PMID:25227139|PMID:25516398|PMID:25741868|PMID:28492532|PMID:29062697|PMID:29178656|PMID:29633331|PMID:30382575|PMID:33996946 10056735 CV197076 NM_004415.4(DSP):c.4198C>T (p.Arg1400Ter) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic PMID:20716751|PMID:24125834|PMID:24503780|PMID:25227139|PMID:25516398|PMID:25741868|PMID:28492532|PMID:29062697|PMID:29178656|PMID:29633331|PMID:30382575|PMID:33996946 10056735 CV197076 NM_004415.4(DSP):c.4198C>T (p.Arg1400Ter) variant DOID:9002630 Epidermolysis Bullosa, Lethal Acantholytic IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Lethal acantholytic epidermolysis bullosa PMID:20716751|PMID:24125834|PMID:24503780|PMID:25227139|PMID:25516398|PMID:25741868|PMID:28492532|PMID:29062697|PMID:29178656|PMID:29633331|PMID:30382575|PMID:33996946 10056735 CV197076 NM_004415.4(DSP):c.4198C>T (p.Arg1400Ter) variant DOID:9004026 Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis PMID:20716751|PMID:24125834|PMID:24503780|PMID:25227139|PMID:25516398|PMID:25741868|PMID:28492532|PMID:29062697|PMID:29178656|PMID:29633331|PMID:30382575|PMID:33996946 10056736 CV197080 NM_004415.4(DSP):c.4961T>C (p.Leu1654Pro) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:20129281|PMID:20152563|PMID:21723241|PMID:24033266|PMID:24070718|PMID:25741868|PMID:28471438|PMID:28492532|PMID:31333075|PMID:31568572 10056736 CV197080 NM_004415.4(DSP):c.4961T>C (p.Leu1654Pro) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma PMID:20129281|PMID:20152563|PMID:21723241|PMID:24033266|PMID:24070718|PMID:25741868|PMID:28471438|PMID:28492532|PMID:31333075|PMID:31568572 10056736 CV197080 NM_004415.4(DSP):c.4961T>C (p.Leu1654Pro) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 8 PMID:20129281|PMID:20152563|PMID:21723241|PMID:24033266|PMID:24070718|PMID:25741868|PMID:28471438|PMID:28492532|PMID:31333075|PMID:31568572 10056736 CV197080 NM_004415.4(DSP):c.4961T>C (p.Leu1654Pro) variant DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:20129281|PMID:20152563|PMID:21723241|PMID:24033266|PMID:24070718|PMID:25741868|PMID:28471438|PMID:28492532|PMID:31333075|PMID:31568572 10056737 CV197077 NM_004415.4(DSP):c.4492A>G (p.Lys1498Glu) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:25741868|PMID:28492532 10056737 CV197077 NM_004415.4(DSP):c.4492A>G (p.Lys1498Glu) variant DOID:0081109 keratosis palmoplantaris striata 2 IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Keratosis palmoplantaris striata II PMID:25741868|PMID:28492532 10056737 CV197077 NM_004415.4(DSP):c.4492A>G (p.Lys1498Glu) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy PMID:25741868|PMID:28492532 10056737 CV197077 NM_004415.4(DSP):c.4492A>G (p.Lys1498Glu) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 8 PMID:25741868|PMID:28492532 10056737 CV197077 NM_004415.4(DSP):c.4492A>G (p.Lys1498Glu) variant DOID:9002630 Epidermolysis Bullosa, Lethal Acantholytic IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Lethal acantholytic epidermolysis bullosa PMID:25741868|PMID:28492532 10056737 CV197077 NM_004415.4(DSP):c.4492A>G (p.Lys1498Glu) variant DOID:9004026 Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis PMID:25741868|PMID:28492532 10056738 CV197078 NM_004415.4(DSP):c.4901G>A (p.Arg1634Gln) variant DOID:0050431 arrhythmogenic right ventricular cardiomyopathy IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, ARVC PMID:25741868|PMID:28492532|PMID:30847666 10056738 CV197078 NM_004415.4(DSP):c.4901G>A (p.Arg1634Gln) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532|PMID:30847666 10056738 CV197078 NM_004415.4(DSP):c.4901G>A (p.Arg1634Gln) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy PMID:25741868|PMID:28492532|PMID:30847666 10056738 CV197078 NM_004415.4(DSP):c.4901G>A (p.Arg1634Gln) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8 PMID:25741868|PMID:28492532|PMID:30847666 10056739 CV197083 NM_004415.4(DSP):c.5035C>T (p.His1679Tyr) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:25741868|PMID:28492532 10056739 CV197083 NM_004415.4(DSP):c.5035C>T (p.His1679Tyr) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma PMID:25741868|PMID:28492532 10056739 CV197083 NM_004415.4(DSP):c.5035C>T (p.His1679Tyr) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8 PMID:25741868|PMID:28492532 10056740 CV197085 NM_004415.4(DSP):c.5108T>A (p.Ile1703Asn) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Carvajal syndrome PMID:28492532 10056740 CV197085 NM_004415.4(DSP):c.5108T>A (p.Ile1703Asn) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 8 PMID:28492532 10056741 CV197087 NM_004415.4(DSP):c.5212C>T (p.Arg1738Ter) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:20716751|PMID:24503780|PMID:25227139|PMID:25616645|PMID:25741868|PMID:25820315|PMID:26314686|PMID:28492532|PMID:28588093|PMID:29759408|PMID:31386562|PMID:32592540|PMID:33460606|PMID:34352074|PMID:35083019 10056741 CV197087 NM_004415.4(DSP):c.5212C>T (p.Arg1738Ter) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma PMID:20716751|PMID:24503780|PMID:25227139|PMID:25616645|PMID:25741868|PMID:25820315|PMID:26314686|PMID:28492532|PMID:28588093|PMID:29759408|PMID:31386562|PMID:32592540|PMID:33460606|PMID:34352074|PMID:35083019 10056741 CV197087 NM_004415.4(DSP):c.5212C>T (p.Arg1738Ter) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 8 PMID:20716751|PMID:24503780|PMID:25227139|PMID:25616645|PMID:25741868|PMID:25820315|PMID:26314686|PMID:28492532|PMID:28588093|PMID:29759408|PMID:31386562|PMID:32592540|PMID:33460606|PMID:34352074|PMID:35083019 10056743 CV197090 NM_004415.4(DSP):c.5618G>T (p.Arg1873Leu) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532|PMID:33029862 10056743 CV197090 NM_004415.4(DSP):c.5618G>T (p.Arg1873Leu) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Carvajal syndrome PMID:25741868|PMID:28492532|PMID:33029862 10056743 CV197090 NM_004415.4(DSP):c.5618G>T (p.Arg1873Leu) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 8 PMID:25741868|PMID:28492532|PMID:33029862 10056744 CV197093 NM_004415.4(DSP):c.5789C>G (p.Thr1930Arg) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma PMID:25741868|PMID:28492532 10056744 CV197093 NM_004415.4(DSP):c.5789C>G (p.Thr1930Arg) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8 PMID:25741868|PMID:28492532 10056745 CV197094 NM_004415.4(DSP):c.5821A>G (p.Lys1941Glu) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Carvajal syndrome PMID:28492532 10056745 CV197094 NM_004415.4(DSP):c.5821A>G (p.Lys1941Glu) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 8 PMID:28492532 10056746 CV197095 NM_004415.4(DSP):c.5827A>G (p.Arg1943Gly) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:25741868|PMID:28492532 10056746 CV197095 NM_004415.4(DSP):c.5827A>G (p.Arg1943Gly) variant DOID:0070554 palmoplantar keratoderma and woolly hair IAGP D RGD:8554872 20230620 ClinVar ClinVar Annotator: match by term: Skin fragility woolly hair syndrome PMID:25741868|PMID:28492532 10056746 CV197095 NM_004415.4(DSP):c.5827A>G (p.Arg1943Gly) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Carvajal syndrome PMID:25741868|PMID:28492532 10056746 CV197095 NM_004415.4(DSP):c.5827A>G (p.Arg1943Gly) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8 PMID:25741868|PMID:28492532 10056746 CV197095 NM_004415.4(DSP):c.5827A>G (p.Arg1943Gly) variant DOID:9002630 Epidermolysis Bullosa, Lethal Acantholytic IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Lethal acantholytic epidermolysis bullosa PMID:25741868|PMID:28492532 10056747 CV197096 NM_004415.4(DSP):c.5881G>A (p.Val1961Ile) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:23396983|PMID:25351510|PMID:25741868|PMID:28492532 10056747 CV197096 NM_004415.4(DSP):c.5881G>A (p.Val1961Ile) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma PMID:23396983|PMID:25351510|PMID:25741868|PMID:28492532 10056747 CV197096 NM_004415.4(DSP):c.5881G>A (p.Val1961Ile) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 8 PMID:23396983|PMID:25351510|PMID:25741868|PMID:28492532 10056748 CV197097 NM_004415.4(DSP):c.5984T>C (p.Leu1995Ser) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:25741868|PMID:28492532|PMID:29016939|PMID:31737537 10056748 CV197097 NM_004415.4(DSP):c.5984T>C (p.Leu1995Ser) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma PMID:25741868|PMID:28492532|PMID:29016939|PMID:31737537 10056748 CV197097 NM_004415.4(DSP):c.5984T>C (p.Leu1995Ser) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 8 PMID:25741868|PMID:28492532|PMID:29016939|PMID:31737537 10056750 CV197100 NM_004415.4(DSP):c.6188G>A (p.Arg2063Gln) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:26656175|PMID:28492532 10056750 CV197100 NM_004415.4(DSP):c.6188G>A (p.Arg2063Gln) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma PMID:25741868|PMID:26656175|PMID:28492532 10056750 CV197100 NM_004415.4(DSP):c.6188G>A (p.Arg2063Gln) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 8 PMID:25741868|PMID:26656175|PMID:28492532 10056751 CV197102 NM_004415.4(DSP):c.6248G>A (p.Arg2083His) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532|PMID:31983221 10056751 CV197102 NM_004415.4(DSP):c.6248G>A (p.Arg2083His) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma PMID:25741868|PMID:28492532|PMID:31983221 10056751 CV197102 NM_004415.4(DSP):c.6248G>A (p.Arg2083His) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 8 PMID:25741868|PMID:28492532|PMID:31983221 10056752 CV197106 NM_004415.4(DSP):c.6397G>A (p.Gly2133Ser) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532|PMID:31983221 10056752 CV197106 NM_004415.4(DSP):c.6397G>A (p.Gly2133Ser) variant DOID:0070554 palmoplantar keratoderma and woolly hair IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Woolly hair-skin fragility syndrome PMID:24033266|PMID:25741868|PMID:28492532|PMID:31983221 10056752 CV197106 NM_004415.4(DSP):c.6397G>A (p.Gly2133Ser) variant DOID:0081109 keratosis palmoplantaris striata 2 IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Keratosis palmoplantaris striata II PMID:24033266|PMID:25741868|PMID:28492532|PMID:31983221 10056752 CV197106 NM_004415.4(DSP):c.6397G>A (p.Gly2133Ser) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Carvajal syndrome PMID:24033266|PMID:25741868|PMID:28492532|PMID:31983221 10056752 CV197106 NM_004415.4(DSP):c.6397G>A (p.Gly2133Ser) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 8 PMID:24033266|PMID:25741868|PMID:28492532|PMID:31983221 10056752 CV197106 NM_004415.4(DSP):c.6397G>A (p.Gly2133Ser) variant DOID:9000497 Dilated Cardiomyopathy with Left Ventricular Noncompaction IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532|PMID:31983221 10056752 CV197106 NM_004415.4(DSP):c.6397G>A (p.Gly2133Ser) variant DOID:9002630 Epidermolysis Bullosa, Lethal Acantholytic IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Lethal acantholytic epidermolysis bullosa PMID:24033266|PMID:25741868|PMID:28492532|PMID:31983221 10056752 CV197106 NM_004415.4(DSP):c.6397G>A (p.Gly2133Ser) variant DOID:9004026 Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis PMID:24033266|PMID:25741868|PMID:28492532|PMID:31983221 10056753 CV197108 NM_004415.4(DSP):c.6478C>T (p.Arg2160Ter) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Carvajal syndrome PMID:12101406|PMID:12802069|PMID:21756917|PMID:23810894|PMID:24784157|PMID:25741868|PMID:25820315|PMID:28416588|PMID:28492532|PMID:29997227|PMID:31386562|PMID:31402444|PMID:31514951|PMID:36396199|PMID:37799505 10056753 CV197108 NM_004415.4(DSP):c.6478C>T (p.Arg2160Ter) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 8 PMID:12101406|PMID:12802069|PMID:21756917|PMID:23810894|PMID:24784157|PMID:25741868|PMID:25820315|PMID:28416588|PMID:28492532|PMID:29997227|PMID:31386562|PMID:31402444|PMID:31514951|PMID:36396199|PMID:37799505 10056754 CV197110 NM_004415.4(DSP):c.6496C>T (p.Arg2166Ter) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:12101406|PMID:21756917|PMID:23671136|PMID:25741868|PMID:25820315|PMID:27532257|PMID:28442525|PMID:28492532|PMID:28588093|PMID:29759408|PMID:31386562|PMID:31402444|PMID:32969603|PMID:35444050|PMID:37461109 10056754 CV197110 NM_004415.4(DSP):c.6496C>T (p.Arg2166Ter) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma PMID:12101406|PMID:21756917|PMID:23671136|PMID:25741868|PMID:25820315|PMID:27532257|PMID:28442525|PMID:28492532|PMID:28588093|PMID:29759408|PMID:31386562|PMID:31402444|PMID:32969603|PMID:35444050|PMID:37461109 10056754 CV197110 NM_004415.4(DSP):c.6496C>T (p.Arg2166Ter) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 8 PMID:12101406|PMID:21756917|PMID:23671136|PMID:25741868|PMID:25820315|PMID:27532257|PMID:28442525|PMID:28492532|PMID:28588093|PMID:29759408|PMID:31386562|PMID:31402444|PMID:32969603|PMID:35444050|PMID:37461109 10056755 CV197109 NM_004415.4(DSP):c.6479G>A (p.Arg2160Gln) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10056755 CV197109 NM_004415.4(DSP):c.6479G>A (p.Arg2160Gln) variant DOID:0070554 palmoplantar keratoderma and woolly hair IAGP D RGD:8554872 20230620 ClinVar ClinVar Annotator: match by term: Skin fragility woolly hair syndrome PMID:25741868|PMID:28492532 10056755 CV197109 NM_004415.4(DSP):c.6479G>A (p.Arg2160Gln) variant DOID:0081109 keratosis palmoplantaris striata 2 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Keratosis palmoplantaris striata II PMID:25741868|PMID:28492532 10056755 CV197109 NM_004415.4(DSP):c.6479G>A (p.Arg2160Gln) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Carvajal syndrome PMID:25741868|PMID:28492532 10056755 CV197109 NM_004415.4(DSP):c.6479G>A (p.Arg2160Gln) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8 PMID:25741868|PMID:28492532 10056755 CV197109 NM_004415.4(DSP):c.6479G>A (p.Arg2160Gln) variant DOID:9002630 Epidermolysis Bullosa, Lethal Acantholytic IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Lethal acantholytic epidermolysis bullosa PMID:25741868|PMID:28492532 10056755 CV197109 NM_004415.4(DSP):c.6479G>A (p.Arg2160Gln) variant DOID:9004026 Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis PMID:25741868|PMID:28492532 10056756 CV197112 NM_004415.4(DSP):c.6850C>T (p.Arg2284Ter) variant DOID:0050431 arrhythmogenic right ventricular cardiomyopathy IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:12101406|PMID:12802069|PMID:20400443|PMID:21756917|PMID:24901346|PMID:25516398|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28527814|PMID:30847666|PMID:32878047|PMID:34640625|PMID:36431211|PMID:37904629 10056756 CV197112 NM_004415.4(DSP):c.6850C>T (p.Arg2284Ter) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:12101406|PMID:12802069|PMID:20400443|PMID:21756917|PMID:24901346|PMID:25516398|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28527814|PMID:30847666|PMID:32878047|PMID:34640625|PMID:36431211|PMID:37904629 10056756 CV197112 NM_004415.4(DSP):c.6850C>T (p.Arg2284Ter) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Carvajal syndrome PMID:12101406|PMID:12802069|PMID:20400443|PMID:21756917|PMID:24901346|PMID:25516398|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28527814|PMID:30847666|PMID:32878047|PMID:34640625|PMID:36431211|PMID:37904629 10056756 CV197112 NM_004415.4(DSP):c.6850C>T (p.Arg2284Ter) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8 PMID:12101406|PMID:12802069|PMID:20400443|PMID:21756917|PMID:24901346|PMID:25516398|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28527814|PMID:30847666|PMID:32878047|PMID:34640625|PMID:36431211|PMID:37904629 10056758 CV197115 NM_004415.4(DSP):c.7310A>G (p.Glu2437Gly) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10056758 CV197115 NM_004415.4(DSP):c.7310A>G (p.Glu2437Gly) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma PMID:25741868|PMID:28492532 10056758 CV197115 NM_004415.4(DSP):c.7310A>G (p.Glu2437Gly) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 8 PMID:25741868|PMID:28492532 10056760 CV197123 NM_004415.4(DSP):c.8330C>A (p.Pro2777His) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:25741868|PMID:27374306|PMID:28492532|PMID:28784889|PMID:28798025 10056760 CV197123 NM_004415.4(DSP):c.8330C>A (p.Pro2777His) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma PMID:25741868|PMID:27374306|PMID:28492532|PMID:28784889|PMID:28798025 10056760 CV197123 NM_004415.4(DSP):c.8330C>A (p.Pro2777His) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 8 PMID:25741868|PMID:27374306|PMID:28492532|PMID:28784889|PMID:28798025 10056761 CV197124 NM_004415.4(DSP):c.8357A>T (p.Lys2786Met) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Carvajal syndrome PMID:28492532 10056761 CV197124 NM_004415.4(DSP):c.8357A>T (p.Lys2786Met) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 8 PMID:28492532 10056762 CV197125 NM_004415.4(DSP):c.8476C>T (p.Arg2826Cys) variant DOID:0070554 palmoplantar keratoderma and woolly hair IAGP D RGD:8554872 20230620 ClinVar ClinVar Annotator: match by term: Skin fragility woolly hair syndrome PMID:25741868|PMID:28492532 10056762 CV197125 NM_004415.4(DSP):c.8476C>T (p.Arg2826Cys) variant DOID:0081109 keratosis palmoplantaris striata 2 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Keratosis palmoplantaris striata II PMID:25741868|PMID:28492532 10056762 CV197125 NM_004415.4(DSP):c.8476C>T (p.Arg2826Cys) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Carvajal syndrome PMID:25741868|PMID:28492532 10056762 CV197125 NM_004415.4(DSP):c.8476C>T (p.Arg2826Cys) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 8 PMID:25741868|PMID:28492532 10056762 CV197125 NM_004415.4(DSP):c.8476C>T (p.Arg2826Cys) variant DOID:9002630 Epidermolysis Bullosa, Lethal Acantholytic IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Lethal acantholytic epidermolysis bullosa PMID:25741868|PMID:28492532 10056762 CV197125 NM_004415.4(DSP):c.8476C>T (p.Arg2826Cys) variant DOID:9004026 Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis PMID:25741868|PMID:28492532 10056763 CV197127 NM_004415.4(DSP):c.8531G>T (p.Gly2844Val) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24598986|PMID:25741868|PMID:28492532|PMID:29555771 10056763 CV197127 NM_004415.4(DSP):c.8531G>T (p.Gly2844Val) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma PMID:24598986|PMID:25741868|PMID:28492532|PMID:29555771 10056763 CV197127 NM_004415.4(DSP):c.8531G>T (p.Gly2844Val) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 8 PMID:24598986|PMID:25741868|PMID:28492532|PMID:29555771 10056764 CV197017 NM_004415.4(DSP):c.47G>C (p.Arg16Pro) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10056764 CV197017 NM_004415.4(DSP):c.47G>C (p.Arg16Pro) variant DOID:0070554 palmoplantar keratoderma and woolly hair IAGP D RGD:8554872 20230620 ClinVar ClinVar Annotator: match by term: Skin fragility woolly hair syndrome PMID:25741868|PMID:28492532 10056764 CV197017 NM_004415.4(DSP):c.47G>C (p.Arg16Pro) variant DOID:0081109 keratosis palmoplantaris striata 2 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Keratosis palmoplantaris striata II PMID:25741868|PMID:28492532 10056764 CV197017 NM_004415.4(DSP):c.47G>C (p.Arg16Pro) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma PMID:25741868|PMID:28492532 10056764 CV197017 NM_004415.4(DSP):c.47G>C (p.Arg16Pro) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 8 PMID:25741868|PMID:28492532 10056764 CV197017 NM_004415.4(DSP):c.47G>C (p.Arg16Pro) variant DOID:9002630 Epidermolysis Bullosa, Lethal Acantholytic IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lethal acantholytic epidermolysis bullosa PMID:25741868|PMID:28492532 10056764 CV197017 NM_004415.4(DSP):c.47G>C (p.Arg16Pro) variant DOID:9004026 Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis PMID:25741868|PMID:28492532 10056765 CV197021 NM_004415.4(DSP):c.243_251del (p.Cys81_Arg84delinsTer) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Carvajal syndrome PMID:20716751|PMID:24503780|PMID:25227139|PMID:28492532|PMID:30160835 10056765 CV197021 NM_004415.4(DSP):c.243_251del (p.Cys81_Arg84delinsTer) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 8 PMID:20716751|PMID:24503780|PMID:25227139|PMID:28492532|PMID:30160835 10056766 CV197022 NM_004415.4(DSP):c.273del (p.Glu92fs) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:24033266 10056767 CV197033 NM_004415.4(DSP):c.928dup (p.Glu310fs) variant DOID:0050431 arrhythmogenic right ventricular cardiomyopathy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy PMID:20716751|PMID:24503780|PMID:25227139|PMID:25741868|PMID:26187847|PMID:28492532|PMID:28527814 10056767 CV197033 NM_004415.4(DSP):c.928dup (p.Glu310fs) variant DOID:0070554 palmoplantar keratoderma and woolly hair IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Woolly hair-skin fragility syndrome PMID:20716751|PMID:24503780|PMID:25227139|PMID:25741868|PMID:26187847|PMID:28492532|PMID:28527814 10056767 CV197033 NM_004415.4(DSP):c.928dup (p.Glu310fs) variant DOID:0081109 keratosis palmoplantaris striata 2 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Keratosis palmoplantaris striata 2 PMID:20716751|PMID:24503780|PMID:25227139|PMID:25741868|PMID:26187847|PMID:28492532|PMID:28527814 10056767 CV197033 NM_004415.4(DSP):c.928dup (p.Glu310fs) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma PMID:20716751|PMID:24503780|PMID:25227139|PMID:25741868|PMID:26187847|PMID:28492532|PMID:28527814 10056767 CV197033 NM_004415.4(DSP):c.928dup (p.Glu310fs) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 8 PMID:20716751|PMID:24503780|PMID:25227139|PMID:25741868|PMID:26187847|PMID:28492532|PMID:28527814 10056767 CV197033 NM_004415.4(DSP):c.928dup (p.Glu310fs) variant DOID:9002630 Epidermolysis Bullosa, Lethal Acantholytic IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Lethal acantholytic epidermolysis bullosa PMID:20716751|PMID:24503780|PMID:25227139|PMID:25741868|PMID:26187847|PMID:28492532|PMID:28527814 10056767 CV197033 NM_004415.4(DSP):c.928dup (p.Glu310fs) variant DOID:9004026 Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis PMID:20716751|PMID:24503780|PMID:25227139|PMID:25741868|PMID:26187847|PMID:28492532|PMID:28527814 10056768 CV197034 NM_004415.4(DSP):c.935_937del (p.Phe312del) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma PMID:28492532 10056768 CV197034 NM_004415.4(DSP):c.935_937del (p.Phe312del) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 8 PMID:28492532 10056772 CV197068 NM_004415.4(DSP):c.3733del (p.Glu1245fs) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Carvajal syndrome PMID:20716751|PMID:24503780|PMID:25227139|PMID:28492532 10056772 CV197068 NM_004415.4(DSP):c.3733del (p.Glu1245fs) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 8 PMID:20716751|PMID:24503780|PMID:25227139|PMID:28492532 10056773 CV197114 NM_004415.4(DSP):c.6937del (p.Glu2313fs) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma PMID:28492532|PMID:31386562 10056773 CV197114 NM_004415.4(DSP):c.6937del (p.Glu2313fs) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 8 PMID:28492532|PMID:31386562 10056774 CV197069 NM_004415.4(DSP):c.3735_3741dup (p.Asp1248fs) variant DOID:0050431 arrhythmogenic right ventricular cardiomyopathy IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:20716751|PMID:24033266|PMID:24503780|PMID:25227139|PMID:25741868|PMID:27532257|PMID:28492532|PMID:29062697|PMID:31402444|PMID:31983221|PMID:32372669 10056774 CV197069 NM_004415.4(DSP):c.3735_3741dup (p.Asp1248fs) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:20716751|PMID:24033266|PMID:24503780|PMID:25227139|PMID:25741868|PMID:27532257|PMID:28492532|PMID:29062697|PMID:31402444|PMID:31983221|PMID:32372669 10056774 CV197069 NM_004415.4(DSP):c.3735_3741dup (p.Asp1248fs) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma PMID:20716751|PMID:24033266|PMID:24503780|PMID:25227139|PMID:25741868|PMID:27532257|PMID:28492532|PMID:29062697|PMID:31402444|PMID:31983221|PMID:32372669 10056774 CV197069 NM_004415.4(DSP):c.3735_3741dup (p.Asp1248fs) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 8 PMID:20716751|PMID:24033266|PMID:24503780|PMID:25227139|PMID:25741868|PMID:27532257|PMID:28492532|PMID:29062697|PMID:31402444|PMID:31983221|PMID:32372669 10056776 CV197104 NM_004415.4(DSP):c.6273del (p.Ala2092fs) variant DOID:0050431 arrhythmogenic right ventricular cardiomyopathy IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy PMID:24033266|PMID:28492532 10056776 CV197104 NM_004415.4(DSP):c.6273del (p.Ala2092fs) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma PMID:24033266|PMID:28492532 10056776 CV197104 NM_004415.4(DSP):c.6273del (p.Ala2092fs) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 8 PMID:24033266|PMID:28492532 10056776 CV197104 NM_004415.4(DSP):c.6273del (p.Ala2092fs) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia PMID:24033266|PMID:28492532 10056777 CV197107 NM_004415.4(DSP):c.6398dup (p.Val2134fs) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma PMID:28492532 10056777 CV197107 NM_004415.4(DSP):c.6398dup (p.Val2134fs) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 8 PMID:28492532 10056778 CV197111 NM_004415.4(DSP):c.6510_6511insCT (p.Asn2171fs) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma PMID:28492532 10056778 CV197111 NM_004415.4(DSP):c.6510_6511insCT (p.Asn2171fs) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8 PMID:28492532 10056779 CV197117 NM_004415.4(DSP):c.7873dup (p.Thr2625fs) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Carvajal syndrome PMID:28492532 10056779 CV197117 NM_004415.4(DSP):c.7873dup (p.Thr2625fs) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 8 PMID:28492532 10056780 CV197121 NM_004415.4(DSP):c.8182dup (p.Glu2728fs) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Carvajal syndrome PMID:27532257|PMID:28492532|PMID:28527814 10056780 CV197121 NM_004415.4(DSP):c.8182dup (p.Glu2728fs) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 8 PMID:27532257|PMID:28492532|PMID:28527814 10056781 CV197126 NM_004415.4(DSP):c.8529_8540del (p.2827_2830SGSR[4]) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:21636032|PMID:24503780|PMID:25741868|PMID:27532257|PMID:28492532 10056781 CV197126 NM_004415.4(DSP):c.8529_8540del (p.2827_2830SGSR[4]) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma PMID:21636032|PMID:24503780|PMID:25741868|PMID:27532257|PMID:28492532 10056781 CV197126 NM_004415.4(DSP):c.8529_8540del (p.2827_2830SGSR[4]) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 8 PMID:21636032|PMID:24503780|PMID:25741868|PMID:27532257|PMID:28492532 10056782 CV197019 NM_004415.4(DSP):c.197A>T (p.Gln66Leu) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Carvajal syndrome PMID:25741868|PMID:28492532 10056782 CV197019 NM_004415.4(DSP):c.197A>T (p.Gln66Leu) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 8 PMID:25741868|PMID:28492532 10056785 CV197070 NM_004415.4(DSP):c.3800G>A (p.Arg1267Gln) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10056785 CV197070 NM_004415.4(DSP):c.3800G>A (p.Arg1267Gln) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma PMID:25741868|PMID:28492532 10056785 CV197070 NM_004415.4(DSP):c.3800G>A (p.Arg1267Gln) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 8 PMID:25741868|PMID:28492532 10056786 CV197073 NM_004415.4(DSP):c.3971A>T (p.Asn1324Ile) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10056786 CV197073 NM_004415.4(DSP):c.3971A>T (p.Asn1324Ile) variant DOID:0070554 palmoplantar keratoderma and woolly hair IAGP D RGD:8554872 20230620 ClinVar ClinVar Annotator: match by term: Skin fragility woolly hair syndrome PMID:25741868|PMID:28492532 10056786 CV197073 NM_004415.4(DSP):c.3971A>T (p.Asn1324Ile) variant DOID:0081109 keratosis palmoplantaris striata 2 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Keratosis palmoplantaris striata 2 PMID:25741868|PMID:28492532 10056786 CV197073 NM_004415.4(DSP):c.3971A>T (p.Asn1324Ile) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma PMID:25741868|PMID:28492532 10056786 CV197073 NM_004415.4(DSP):c.3971A>T (p.Asn1324Ile) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8 PMID:25741868|PMID:28492532 10056786 CV197073 NM_004415.4(DSP):c.3971A>T (p.Asn1324Ile) variant DOID:9002630 Epidermolysis Bullosa, Lethal Acantholytic IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lethal acantholytic epidermolysis bullosa PMID:25741868|PMID:28492532 10056786 CV197073 NM_004415.4(DSP):c.3971A>T (p.Asn1324Ile) variant DOID:9004026 Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis PMID:25741868|PMID:28492532 10056787 CV197084 NM_004415.4(DSP):c.5101A>G (p.Ile1701Val) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma PMID:25741868|PMID:28492532 10056787 CV197084 NM_004415.4(DSP):c.5101A>G (p.Ile1701Val) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 8 PMID:25741868|PMID:28492532 10056788 CV197098 NM_004415.4(DSP):c.6055G>T (p.Ala2019Ser) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:24967631|PMID:25741868|PMID:28492532|PMID:28798025|PMID:31402444|PMID:37589201 10056788 CV197098 NM_004415.4(DSP):c.6055G>T (p.Ala2019Ser) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma PMID:24967631|PMID:25741868|PMID:28492532|PMID:28798025|PMID:31402444|PMID:37589201 10056788 CV197098 NM_004415.4(DSP):c.6055G>T (p.Ala2019Ser) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 8 PMID:24967631|PMID:25741868|PMID:28492532|PMID:28798025|PMID:31402444|PMID:37589201 10056789 CV197103 NM_004415.4(DSP):c.6259T>C (p.Tyr2087His) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma PMID:28492532 10056789 CV197103 NM_004415.4(DSP):c.6259T>C (p.Tyr2087His) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 8 PMID:28492532 10056790 CV197105 NM_004415.4(DSP):c.6319G>C (p.Val2107Leu) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:20716751|PMID:25741868|PMID:28492532 10056790 CV197105 NM_004415.4(DSP):c.6319G>C (p.Val2107Leu) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Carvajal syndrome PMID:20716751|PMID:25741868|PMID:28492532 10056790 CV197105 NM_004415.4(DSP):c.6319G>C (p.Val2107Leu) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 8 PMID:20716751|PMID:25741868|PMID:28492532 10056791 CV197116 NM_004415.4(DSP):c.7575C>T (p.Gly2525=) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10056791 CV197116 NM_004415.4(DSP):c.7575C>T (p.Gly2525=) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma PMID:25741868|PMID:28492532 10056791 CV197116 NM_004415.4(DSP):c.7575C>T (p.Gly2525=) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 8 PMID:25741868|PMID:28492532 10056792 CV197122 NM_004415.4(DSP):c.8210T>C (p.Val2737Ala) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma PMID:28492532 10056792 CV197122 NM_004415.4(DSP):c.8210T>C (p.Val2737Ala) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8 PMID:28492532 10056793 CV197018 NM_004415.4(DSP):c.151C>T (p.Gln51Ter) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Carvajal syndrome PMID:20716751|PMID:23810894|PMID:24503780|PMID:25227139|PMID:28492532 10056793 CV197018 NM_004415.4(DSP):c.151C>T (p.Gln51Ter) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 8 PMID:20716751|PMID:23810894|PMID:24503780|PMID:25227139|PMID:28492532 10056796 CV197120 NM_004415.4(DSP):c.8156del (p.Pro2719fs) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma PMID:28492532 10056796 CV197120 NM_004415.4(DSP):c.8156del (p.Pro2719fs) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8 PMID:28492532 10056797 CV198011 NM_000527.5(LDLR):c.501C>A (p.Cys167Ter) variant DOID:0090105 autosomal recessive hypercholesterolemia IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Homozygous familial hypercholesterolemia PMID:10208479|PMID:10735632|PMID:11810272|PMID:12406975|PMID:15321837|PMID:15823280|PMID:17094996|PMID:17539906|PMID:20809525|PMID:21310417|PMID:21382890|PMID:22390909|PMID:22698793|PMID:23833242|PMID:24033266|PMID:25741868|PMID:26892515|PMID:27680772|PMID:27765764|PMID:28492532|PMID:28645073|PMID:31345425|PMID:32770674|PMID:33740630|PMID:34037665|PMID:34511120|PMID:7616128|PMID:8828982 10056797 CV198011 NM_000527.5(LDLR):c.501C>A (p.Cys167Ter) variant DOID:13810 familial hypercholesterolemia IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:10208479|PMID:10735632|PMID:11810272|PMID:12406975|PMID:15321837|PMID:15823280|PMID:17094996|PMID:17539906|PMID:20809525|PMID:21310417|PMID:21382890|PMID:22390909|PMID:22698793|PMID:23833242|PMID:24033266|PMID:25741868|PMID:26892515|PMID:27680772|PMID:27765764|PMID:28492532|PMID:28645073|PMID:31345425|PMID:32770674|PMID:33740630|PMID:34037665|PMID:34511120|PMID:7616128|PMID:8828982 10056797 CV198011 NM_000527.5(LDLR):c.501C>A (p.Cys167Ter) variant DOID:9005519 Hyperlipoproteinemia Type II IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia PMID:10208479|PMID:10735632|PMID:11810272|PMID:12406975|PMID:15321837|PMID:15823280|PMID:17094996|PMID:17539906|PMID:20809525|PMID:21310417|PMID:21382890|PMID:22390909|PMID:22698793|PMID:23833242|PMID:24033266|PMID:25741868|PMID:26892515|PMID:27680772|PMID:27765764|PMID:28492532|PMID:28645073|PMID:31345425|PMID:32770674|PMID:33740630|PMID:34037665|PMID:34511120|PMID:7616128|PMID:8828982 10056798 CV198012 NM_000527.5(LDLR):c.590G>A (p.Cys197Tyr) variant DOID:0090105 autosomal recessive hypercholesterolemia IAGP D RGD:8554872 20240521 ClinVar ClinVar Annotator: match by term: Homozygous familial hypercholesterolemia PMID:1301956|PMID:14993243|PMID:15952897|PMID:18096825|PMID:18325082|PMID:19717150|PMID:20538126|PMID:2088165|PMID:21276076|PMID:21376320|PMID:23064986|PMID:23537714|PMID:25741868|PMID:26467025|PMID:27365335|PMID:27765764|PMID:27816806|PMID:28349240|PMID:28492532|PMID:28502495|PMID:29874871|PMID:30293936|PMID:30586733|PMID:31447099|PMID:32041611|PMID:32044282|PMID:32505727|PMID:33740630|PMID:33994402|PMID:34029164|PMID:34037665|PMID:34040191|PMID:37119068|PMID:6091915|PMID:7548065|PMID:7603991|PMID:7979249|PMID:9026534 10056798 CV198012 NM_000527.5(LDLR):c.590G>A (p.Cys197Tyr) variant DOID:13810 familial hypercholesterolemia IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:1301956|PMID:14993243|PMID:15952897|PMID:18096825|PMID:18325082|PMID:19717150|PMID:20538126|PMID:2088165|PMID:21276076|PMID:21376320|PMID:23064986|PMID:23537714|PMID:25741868|PMID:26467025|PMID:27365335|PMID:27765764|PMID:27816806|PMID:28349240|PMID:28492532|PMID:28502495|PMID:29874871|PMID:30293936|PMID:30586733|PMID:31447099|PMID:32041611|PMID:32044282|PMID:32505727|PMID:33740630|PMID:33994402|PMID:34029164|PMID:34037665|PMID:34040191|PMID:37119068|PMID:6091915|PMID:7548065|PMID:7603991|PMID:7979249|PMID:9026534 10056798 CV198012 NM_000527.5(LDLR):c.590G>A (p.Cys197Tyr) variant DOID:9003370 Dyslipidemias IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Dyslipidemia PMID:1301956|PMID:14993243|PMID:15952897|PMID:18096825|PMID:18325082|PMID:19717150|PMID:20538126|PMID:2088165|PMID:21276076|PMID:21376320|PMID:23064986|PMID:23537714|PMID:25741868|PMID:26467025|PMID:27365335|PMID:27765764|PMID:27816806|PMID:28349240|PMID:28492532|PMID:28502495|PMID:29874871|PMID:30293936|PMID:30586733|PMID:31447099|PMID:32041611|PMID:32044282|PMID:32505727|PMID:33740630|PMID:33994402|PMID:34029164|PMID:34037665|PMID:34040191|PMID:37119068|PMID:6091915|PMID:7548065|PMID:7603991|PMID:7979249|PMID:9026534 10056798 CV198012 NM_000527.5(LDLR):c.590G>A (p.Cys197Tyr) variant DOID:9005519 Hyperlipoproteinemia Type II IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia PMID:1301956|PMID:14993243|PMID:15952897|PMID:18096825|PMID:18325082|PMID:19717150|PMID:20538126|PMID:2088165|PMID:21276076|PMID:21376320|PMID:23064986|PMID:23537714|PMID:25741868|PMID:26467025|PMID:27365335|PMID:27765764|PMID:27816806|PMID:28349240|PMID:28492532|PMID:28502495|PMID:29874871|PMID:30293936|PMID:30586733|PMID:31447099|PMID:32041611|PMID:32044282|PMID:32505727|PMID:33740630|PMID:33994402|PMID:34029164|PMID:34037665|PMID:34040191|PMID:37119068|PMID:6091915|PMID:7548065|PMID:7603991|PMID:7979249|PMID:9026534 10056799 CV198013 NM_000527.5(LDLR):c.718G>A (p.Glu240Lys) variant DOID:0090105 autosomal recessive hypercholesterolemia IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Homozygous familial hypercholesterolemia PMID:10704205|PMID:11052664|PMID:1301956|PMID:16250003|PMID:18929537|PMID:19118540|PMID:21990180|PMID:23375686|PMID:24033266|PMID:24956927|PMID:25463123|PMID:25741868|PMID:26467025|PMID:28008010|PMID:28235710|PMID:28492532|PMID:28965616|PMID:30241732|PMID:31345425|PMID:31447099|PMID:31947532|PMID:32041611|PMID:32719484|PMID:32759540|PMID:32977124|PMID:33303402|PMID:34297352|PMID:34906454|PMID:35480308|PMID:37967952 10056799 CV198013 NM_000527.5(LDLR):c.718G>A (p.Glu240Lys) variant DOID:13810 familial hypercholesterolemia IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:10704205|PMID:11052664|PMID:1301956|PMID:16250003|PMID:18929537|PMID:19118540|PMID:21990180|PMID:23375686|PMID:24033266|PMID:24956927|PMID:25463123|PMID:25741868|PMID:26467025|PMID:28008010|PMID:28235710|PMID:28492532|PMID:28965616|PMID:30241732|PMID:31345425|PMID:31447099|PMID:31947532|PMID:32041611|PMID:32719484|PMID:32759540|PMID:32977124|PMID:33303402|PMID:34297352|PMID:34906454|PMID:35480308|PMID:37967952 10056799 CV198013 NM_000527.5(LDLR):c.718G>A (p.Glu240Lys) variant DOID:9005519 Hyperlipoproteinemia Type II IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia PMID:10704205|PMID:11052664|PMID:1301956|PMID:16250003|PMID:18929537|PMID:19118540|PMID:21990180|PMID:23375686|PMID:24033266|PMID:24956927|PMID:25463123|PMID:25741868|PMID:26467025|PMID:28008010|PMID:28235710|PMID:28492532|PMID:28965616|PMID:30241732|PMID:31345425|PMID:31447099|PMID:31947532|PMID:32041611|PMID:32719484|PMID:32759540|PMID:32977124|PMID:33303402|PMID:34297352|PMID:34906454|PMID:35480308|PMID:37967952 10056800 CV198015 NM_000527.5(LDLR):c.1747C>T (p.His583Tyr) variant DOID:0090105 autosomal recessive hypercholesterolemia IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Homozygous familial hypercholesterolemia PMID:15494314|PMID:15741231|PMID:16205024|PMID:19318025|PMID:20538126|PMID:21376320|PMID:21511053|PMID:21520341|PMID:22353362|PMID:22698793|PMID:22883975|PMID:23155708|PMID:23375686|PMID:24033266|PMID:25741868|PMID:25846081|PMID:26467025|PMID:26608663|PMID:27206935|PMID:27765764|PMID:28028493|PMID:28492532|PMID:29233637|PMID:29353225|PMID:30526649|PMID:30586733|PMID:30592178|PMID:30949068|PMID:31345425|PMID:31447099|PMID:31491741|PMID:32015373|PMID:32041611|PMID:32154576|PMID:32331935|PMID:32695144|PMID:32719484|PMID:32759540|PMID:32800790|PMID:33261662|PMID:33418990|PMID:33533259|PMID:33569482|PMID:33746137|PMID:33994402|PMID:34037665|PMID:34456200|PMID:35741760|PMID:36011335|PMID:36172582|PMID:7903864 10056800 CV198015 NM_000527.5(LDLR):c.1747C>T (p.His583Tyr) variant DOID:13810 familial hypercholesterolemia IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:15494314|PMID:15741231|PMID:16205024|PMID:19318025|PMID:20538126|PMID:21376320|PMID:21511053|PMID:21520341|PMID:22353362|PMID:22698793|PMID:22883975|PMID:23155708|PMID:23375686|PMID:24033266|PMID:25741868|PMID:25846081|PMID:26467025|PMID:26608663|PMID:27206935|PMID:27765764|PMID:28028493|PMID:28492532|PMID:29233637|PMID:29353225|PMID:30526649|PMID:30586733|PMID:30592178|PMID:30949068|PMID:31345425|PMID:31447099|PMID:31491741|PMID:32015373|PMID:32041611|PMID:32154576|PMID:32331935|PMID:32695144|PMID:32719484|PMID:32759540|PMID:32800790|PMID:33261662|PMID:33418990|PMID:33533259|PMID:33569482|PMID:33746137|PMID:33994402|PMID:34037665|PMID:34456200|PMID:35741760|PMID:36011335|PMID:36172582|PMID:7903864 10056800 CV198015 NM_000527.5(LDLR):c.1747C>T (p.His583Tyr) variant DOID:9005519 Hyperlipoproteinemia Type II IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia PMID:15494314|PMID:15741231|PMID:16205024|PMID:19318025|PMID:20538126|PMID:21376320|PMID:21511053|PMID:21520341|PMID:22353362|PMID:22698793|PMID:22883975|PMID:23155708|PMID:23375686|PMID:24033266|PMID:25741868|PMID:25846081|PMID:26467025|PMID:26608663|PMID:27206935|PMID:27765764|PMID:28028493|PMID:28492532|PMID:29233637|PMID:29353225|PMID:30526649|PMID:30586733|PMID:30592178|PMID:30949068|PMID:31345425|PMID:31447099|PMID:31491741|PMID:32015373|PMID:32041611|PMID:32154576|PMID:32331935|PMID:32695144|PMID:32719484|PMID:32759540|PMID:32800790|PMID:33261662|PMID:33418990|PMID:33533259|PMID:33569482|PMID:33746137|PMID:33994402|PMID:34037665|PMID:34456200|PMID:35741760|PMID:36011335|PMID:36172582|PMID:7903864 10056801 CV198017 NM_000527.5(LDLR):c.1916T>A (p.Val639Asp) variant DOID:13810 familial hypercholesterolemia IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:11462246|PMID:16250003|PMID:22311046|PMID:25741868|PMID:26467025|PMID:27784735|PMID:28492532|PMID:28502510|PMID:29502162|PMID:30293936|PMID:32770674|PMID:35222550|PMID:35741760 10056801 CV198017 NM_000527.5(LDLR):c.1916T>A (p.Val639Asp) variant DOID:9005519 Hyperlipoproteinemia Type II IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia PMID:11462246|PMID:16250003|PMID:22311046|PMID:25741868|PMID:26467025|PMID:27784735|PMID:28492532|PMID:28502510|PMID:29502162|PMID:30293936|PMID:32770674|PMID:35222550|PMID:35741760 10056802 CV198018 NM_000527.5(LDLR):c.2098G>A (p.Asp700Asn) variant DOID:13810 familial hypercholesterolemia IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:10206683|PMID:11668640|PMID:15199436|PMID:19118540|PMID:21418584|PMID:22353362|PMID:23669246|PMID:24033266|PMID:25487149|PMID:25741868|PMID:26467025|PMID:26633542|PMID:28008010|PMID:28492532|PMID:28964736|PMID:32015373|PMID:32041611|PMID:32466883|PMID:32906206|PMID:34456049|PMID:34869944 10056802 CV198018 NM_000527.5(LDLR):c.2098G>A (p.Asp700Asn) variant DOID:9005519 Hyperlipoproteinemia Type II IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia PMID:10206683|PMID:11668640|PMID:15199436|PMID:19118540|PMID:21418584|PMID:22353362|PMID:23669246|PMID:24033266|PMID:25487149|PMID:25741868|PMID:26467025|PMID:26633542|PMID:28008010|PMID:28492532|PMID:28964736|PMID:32015373|PMID:32041611|PMID:32466883|PMID:32906206|PMID:34456049|PMID:34869944 10056803 CV198010 NM_000527.5(LDLR):c.178C>T (p.Gln60Ter) variant DOID:13810 familial hypercholesterolemia IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia 10056804 CV196451 NM_170707.4(LMNA):c.252G>C (p.Glu84Asp) variant DOID:0050539 Charcot-Marie-Tooth disease type 2 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 PMID:28492532 10056805 CV196452 NM_170707.4(LMNA):c.329G>C (p.Arg110Pro) variant DOID:0050539 Charcot-Marie-Tooth disease type 2 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 PMID:28492532 10056807 CV196456 NM_170707.4(LMNA):c.344A>T (p.Glu115Val) variant DOID:0050539 Charcot-Marie-Tooth disease type 2 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 PMID:25741868|PMID:28492532|PMID:29237675|PMID:36548481 10056807 CV196456 NM_170707.4(LMNA):c.344A>T (p.Glu115Val) variant DOID:0110425 dilated cardiomyopathy 1A IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation PMID:25741868|PMID:28492532|PMID:29237675|PMID:36548481 10056807 CV196456 NM_170707.4(LMNA):c.344A>T (p.Glu115Val) variant DOID:0110443 dilated cardiomyopathy 1B IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:25741868|PMID:28492532|PMID:29237675|PMID:36548481 10056807 CV196456 NM_170707.4(LMNA):c.344A>T (p.Glu115Val) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy PMID:25741868|PMID:28492532|PMID:29237675|PMID:36548481 10056807 CV196456 NM_170707.4(LMNA):c.344A>T (p.Glu115Val) variant DOID:870 neuropathy IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Neuropathy PMID:25741868|PMID:28492532|PMID:29237675|PMID:36548481 10056808 CV196457 NM_170707.4(LMNA):c.356+1G>A variant DOID:0050539 Charcot-Marie-Tooth disease type 2 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:16199547|PMID:18585512|PMID:18926329|PMID:23062543|PMID:25741868|PMID:28492532 10056809 CV196461 NM_170707.4(LMNA):c.398G>A (p.Arg133Gln) variant DOID:0050440 familial partial lipodystrophy IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules PMID:11503164|PMID:12629077|PMID:12927431|PMID:14615128|PMID:16174718|PMID:25741868|PMID:27506821|PMID:27884249|PMID:28492532|PMID:31980526|PMID:32727917|PMID:34999423 10056809 CV196461 NM_170707.4(LMNA):c.398G>A (p.Arg133Gln) variant DOID:0050539 Charcot-Marie-Tooth disease type 2 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 PMID:11503164|PMID:12629077|PMID:12927431|PMID:14615128|PMID:16174718|PMID:25741868|PMID:27506821|PMID:27884249|PMID:28492532|PMID:31980526|PMID:32727917|PMID:34999423 10056809 CV196461 NM_170707.4(LMNA):c.398G>A (p.Arg133Gln) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:11503164|PMID:12629077|PMID:12927431|PMID:14615128|PMID:16174718|PMID:25741868|PMID:27506821|PMID:27884249|PMID:28492532|PMID:31980526|PMID:32727917|PMID:34999423 10056809 CV196461 NM_170707.4(LMNA):c.398G>A (p.Arg133Gln) variant DOID:0060762 restrictive dermopathy IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Lethal tight skin contracture syndrome PMID:11503164|PMID:12629077|PMID:12927431|PMID:14615128|PMID:16174718|PMID:25741868|PMID:27506821|PMID:27884249|PMID:28492532|PMID:31980526|PMID:32727917|PMID:34999423 10056809 CV196461 NM_170707.4(LMNA):c.398G>A (p.Arg133Gln) variant DOID:0070202 familial partial lipodystrophy type 2 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Familial partial lipodystrophy, Dunnigan type PMID:11503164|PMID:12629077|PMID:12927431|PMID:14615128|PMID:16174718|PMID:25741868|PMID:27506821|PMID:27884249|PMID:28492532|PMID:31980526|PMID:32727917|PMID:34999423 10056809 CV196461 NM_170707.4(LMNA):c.398G>A (p.Arg133Gln) variant DOID:0070246 X-linked Emery-Dreifuss muscular dystrophy 1 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures PMID:11503164|PMID:12629077|PMID:12927431|PMID:14615128|PMID:16174718|PMID:25741868|PMID:27506821|PMID:27884249|PMID:28492532|PMID:31980526|PMID:32727917|PMID:34999423 10056809 CV196461 NM_170707.4(LMNA):c.398G>A (p.Arg133Gln) variant DOID:0070247 autosomal dominant Emery-Dreifuss muscular dystrophy 2 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 2, autosomal dominant PMID:11503164|PMID:12629077|PMID:12927431|PMID:14615128|PMID:16174718|PMID:25741868|PMID:27506821|PMID:27884249|PMID:28492532|PMID:31980526|PMID:32727917|PMID:34999423 10056809 CV196461 NM_170707.4(LMNA):c.398G>A (p.Arg133Gln) variant DOID:0070248 autosomal recessive Emery-Dreifuss muscular dystrophy 3 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 3, autosomal recessive PMID:11503164|PMID:12629077|PMID:12927431|PMID:14615128|PMID:16174718|PMID:25741868|PMID:27506821|PMID:27884249|PMID:28492532|PMID:31980526|PMID:32727917|PMID:34999423 10056809 CV196461 NM_170707.4(LMNA):c.398G>A (p.Arg133Gln) variant DOID:0070370 restrictive dermopathy 2 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: RESTRICTIVE DERMOPATHY 2, LETHAL PMID:11503164|PMID:12629077|PMID:12927431|PMID:14615128|PMID:16174718|PMID:25741868|PMID:27506821|PMID:27884249|PMID:28492532|PMID:31980526|PMID:32727917|PMID:34999423 10056809 CV196461 NM_170707.4(LMNA):c.398G>A (p.Arg133Gln) variant DOID:0081128 mandibuloacral dysplasia type A lipodystrophy IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Mandibuloacral dysplasia with type A lipodystrophy PMID:11503164|PMID:12629077|PMID:12927431|PMID:14615128|PMID:16174718|PMID:25741868|PMID:27506821|PMID:27884249|PMID:28492532|PMID:31980526|PMID:32727917|PMID:34999423 10056809 CV196461 NM_170707.4(LMNA):c.398G>A (p.Arg133Gln) variant DOID:0110156 Charcot-Marie-Tooth disease type 2B1 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B1 PMID:11503164|PMID:12629077|PMID:12927431|PMID:14615128|PMID:16174718|PMID:25741868|PMID:27506821|PMID:27884249|PMID:28492532|PMID:31980526|PMID:32727917|PMID:34999423 10056809 CV196461 NM_170707.4(LMNA):c.398G>A (p.Arg133Gln) variant DOID:0110425 dilated cardiomyopathy 1A IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:11503164|PMID:12629077|PMID:12927431|PMID:14615128|PMID:16174718|PMID:25741868|PMID:27506821|PMID:27884249|PMID:28492532|PMID:31980526|PMID:32727917|PMID:34999423 10056809 CV196461 NM_170707.4(LMNA):c.398G>A (p.Arg133Gln) variant DOID:0110640 congenital muscular dystrophy due to LMNA mutation IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy due to LMNA mutation PMID:11503164|PMID:12629077|PMID:12927431|PMID:14615128|PMID:16174718|PMID:25741868|PMID:27506821|PMID:27884249|PMID:28492532|PMID:31980526|PMID:32727917|PMID:34999423 10056809 CV196461 NM_170707.4(LMNA):c.398G>A (p.Arg133Gln) variant DOID:0111584 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: NAJJAR SYNDROME PMID:11503164|PMID:12629077|PMID:12927431|PMID:14615128|PMID:16174718|PMID:25741868|PMID:27506821|PMID:27884249|PMID:28492532|PMID:31980526|PMID:32727917|PMID:34999423 10056809 CV196461 NM_170707.4(LMNA):c.398G>A (p.Arg133Gln) variant DOID:11726 Emery-Dreifuss muscular dystrophy IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy PMID:11503164|PMID:12629077|PMID:12927431|PMID:14615128|PMID:16174718|PMID:25741868|PMID:27506821|PMID:27884249|PMID:28492532|PMID:31980526|PMID:32727917|PMID:34999423 10056809 CV196461 NM_170707.4(LMNA):c.398G>A (p.Arg133Gln) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant PMID:11503164|PMID:12629077|PMID:12927431|PMID:14615128|PMID:16174718|PMID:25741868|PMID:27506821|PMID:27884249|PMID:28492532|PMID:31980526|PMID:32727917|PMID:34999423 10056809 CV196461 NM_170707.4(LMNA):c.398G>A (p.Arg133Gln) variant DOID:3911 progeria IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Hutchinson-Gilford syndrome PMID:11503164|PMID:12629077|PMID:12927431|PMID:14615128|PMID:16174718|PMID:25741868|PMID:27506821|PMID:27884249|PMID:28492532|PMID:31980526|PMID:32727917|PMID:34999423 10056809 CV196461 NM_170707.4(LMNA):c.398G>A (p.Arg133Gln) variant DOID:9003205 Heart-Hand Syndrome, Slovenian Type IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Heart-hand syndrome, Slovenian type PMID:11503164|PMID:12629077|PMID:12927431|PMID:14615128|PMID:16174718|PMID:25741868|PMID:27506821|PMID:27884249|PMID:28492532|PMID:31980526|PMID:32727917|PMID:34999423 10056810 CV196462 NM_170707.4(LMNA):c.466C>T (p.Arg156Cys) variant DOID:0050440 familial partial lipodystrophy IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lipodystrophy, reverse partial PMID:25741868|PMID:28492532 10056810 CV196462 NM_170707.4(LMNA):c.466C>T (p.Arg156Cys) variant DOID:0050539 Charcot-Marie-Tooth disease type 2 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:25741868|PMID:28492532 10056810 CV196462 NM_170707.4(LMNA):c.466C>T (p.Arg156Cys) variant DOID:0070202 familial partial lipodystrophy type 2 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Partial lipodystrophy, Dunnigan PMID:25741868|PMID:28492532 10056810 CV196462 NM_170707.4(LMNA):c.466C>T (p.Arg156Cys) variant DOID:0070247 autosomal dominant Emery-Dreifuss muscular dystrophy 2 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, proximal, type 1B PMID:25741868|PMID:28492532 10056810 CV196462 NM_170707.4(LMNA):c.466C>T (p.Arg156Cys) variant DOID:0070248 autosomal recessive Emery-Dreifuss muscular dystrophy 3 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 3, autosomal recessive PMID:25741868|PMID:28492532 10056810 CV196462 NM_170707.4(LMNA):c.466C>T (p.Arg156Cys) variant DOID:0070370 restrictive dermopathy 2 IAGP D RGD:8554872 20230404 ClinVar ClinVar Annotator: match by term: RESTRICTIVE DERMOPATHY 2, LETHAL PMID:25741868|PMID:28492532 10056810 CV196462 NM_170707.4(LMNA):c.466C>T (p.Arg156Cys) variant DOID:0081128 mandibuloacral dysplasia type A lipodystrophy IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Lipodystrophy, type A, associated with mandibuloacral dysplasia PMID:25741868|PMID:28492532 10056810 CV196462 NM_170707.4(LMNA):c.466C>T (p.Arg156Cys) variant DOID:0110156 Charcot-Marie-Tooth disease type 2B1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2B1 PMID:25741868|PMID:28492532 10056810 CV196462 NM_170707.4(LMNA):c.466C>T (p.Arg156Cys) variant DOID:0110425 dilated cardiomyopathy 1A IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation PMID:25741868|PMID:28492532 10056810 CV196462 NM_170707.4(LMNA):c.466C>T (p.Arg156Cys) variant DOID:0110640 congenital muscular dystrophy due to LMNA mutation IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy, LMNA-related PMID:25741868|PMID:28492532 10056810 CV196462 NM_170707.4(LMNA):c.466C>T (p.Arg156Cys) variant DOID:0111584 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome PMID:25741868|PMID:28492532 10056810 CV196462 NM_170707.4(LMNA):c.466C>T (p.Arg156Cys) variant DOID:11726 Emery-Dreifuss muscular dystrophy IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy PMID:25741868|PMID:28492532 10056810 CV196462 NM_170707.4(LMNA):c.466C>T (p.Arg156Cys) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive PMID:25741868|PMID:28492532 10056810 CV196462 NM_170707.4(LMNA):c.466C>T (p.Arg156Cys) variant DOID:3911 progeria IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hutchinson-Gilford syndrome PMID:25741868|PMID:28492532 10056810 CV196462 NM_170707.4(LMNA):c.466C>T (p.Arg156Cys) variant DOID:9003205 Heart-Hand Syndrome, Slovenian Type IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Heart-hand syndrome, Slovenian type PMID:25741868|PMID:28492532 10056811 CV196463 NM_170707.4(LMNA):c.471G>A (p.Thr157=) variant DOID:0050440 familial partial lipodystrophy IAGP D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules PMID:11102973|PMID:17377071|PMID:22326558|PMID:23853504|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29237675|PMID:29952368|PMID:32818388|PMID:33407844 10056811 CV196463 NM_170707.4(LMNA):c.471G>A (p.Thr157=) variant DOID:0050539 Charcot-Marie-Tooth disease type 2 IAGP D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:11102973|PMID:17377071|PMID:22326558|PMID:23853504|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29237675|PMID:29952368|PMID:32818388|PMID:33407844 10056811 CV196463 NM_170707.4(LMNA):c.471G>A (p.Thr157=) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:11102973|PMID:17377071|PMID:22326558|PMID:23853504|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29237675|PMID:29952368|PMID:32818388|PMID:33407844 10056811 CV196463 NM_170707.4(LMNA):c.471G>A (p.Thr157=) variant DOID:0060762 restrictive dermopathy IAGP D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Lethal tight skin contracture syndrome PMID:11102973|PMID:17377071|PMID:22326558|PMID:23853504|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29237675|PMID:29952368|PMID:32818388|PMID:33407844 10056811 CV196463 NM_170707.4(LMNA):c.471G>A (p.Thr157=) variant DOID:0070202 familial partial lipodystrophy type 2 IAGP D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial partial lipodystrophy, Dunnigan type PMID:11102973|PMID:17377071|PMID:22326558|PMID:23853504|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29237675|PMID:29952368|PMID:32818388|PMID:33407844 10056811 CV196463 NM_170707.4(LMNA):c.471G>A (p.Thr157=) variant DOID:0070246 X-linked Emery-Dreifuss muscular dystrophy 1 IAGP D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures PMID:11102973|PMID:17377071|PMID:22326558|PMID:23853504|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29237675|PMID:29952368|PMID:32818388|PMID:33407844 10056811 CV196463 NM_170707.4(LMNA):c.471G>A (p.Thr157=) variant DOID:0070247 autosomal dominant Emery-Dreifuss muscular dystrophy 2 IAGP D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1B PMID:11102973|PMID:17377071|PMID:22326558|PMID:23853504|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29237675|PMID:29952368|PMID:32818388|PMID:33407844 10056811 CV196463 NM_170707.4(LMNA):c.471G>A (p.Thr157=) variant DOID:0081128 mandibuloacral dysplasia type A lipodystrophy IAGP D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Mandibuloacral dysplasia with type A lipodystrophy PMID:11102973|PMID:17377071|PMID:22326558|PMID:23853504|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29237675|PMID:29952368|PMID:32818388|PMID:33407844 10056811 CV196463 NM_170707.4(LMNA):c.471G>A (p.Thr157=) variant DOID:0110156 Charcot-Marie-Tooth disease type 2B1 IAGP D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B1 PMID:11102973|PMID:17377071|PMID:22326558|PMID:23853504|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29237675|PMID:29952368|PMID:32818388|PMID:33407844 10056811 CV196463 NM_170707.4(LMNA):c.471G>A (p.Thr157=) variant DOID:0110425 dilated cardiomyopathy 1A IAGP D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:11102973|PMID:17377071|PMID:22326558|PMID:23853504|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29237675|PMID:29952368|PMID:32818388|PMID:33407844 10056811 CV196463 NM_170707.4(LMNA):c.471G>A (p.Thr157=) variant DOID:0110640 congenital muscular dystrophy due to LMNA mutation IAGP D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy due to LMNA mutation PMID:11102973|PMID:17377071|PMID:22326558|PMID:23853504|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29237675|PMID:29952368|PMID:32818388|PMID:33407844 10056811 CV196463 NM_170707.4(LMNA):c.471G>A (p.Thr157=) variant DOID:11726 Emery-Dreifuss muscular dystrophy IAGP D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy PMID:11102973|PMID:17377071|PMID:22326558|PMID:23853504|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29237675|PMID:29952368|PMID:32818388|PMID:33407844 10056811 CV196463 NM_170707.4(LMNA):c.471G>A (p.Thr157=) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic PMID:11102973|PMID:17377071|PMID:22326558|PMID:23853504|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29237675|PMID:29952368|PMID:32818388|PMID:33407844 10056811 CV196463 NM_170707.4(LMNA):c.471G>A (p.Thr157=) variant DOID:3911 progeria IAGP D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Hutchinson-Gilford syndrome PMID:11102973|PMID:17377071|PMID:22326558|PMID:23853504|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29237675|PMID:29952368|PMID:32818388|PMID:33407844 10056813 CV196467 NM_170707.4(LMNA):c.646C>T (p.Arg216Cys) variant DOID:0050539 Charcot-Marie-Tooth disease type 2 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 PMID:17377071|PMID:23183350|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27506821|PMID:28492532|PMID:28878402|PMID:29237675|PMID:29943882|PMID:30007954|PMID:30078822|PMID:30420677|PMID:32155092|PMID:33673806|PMID:34975533 10056813 CV196467 NM_170707.4(LMNA):c.646C>T (p.Arg216Cys) variant DOID:0050820 atrioventricular block IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: AV block PMID:17377071|PMID:23183350|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27506821|PMID:28492532|PMID:28878402|PMID:29237675|PMID:29943882|PMID:30007954|PMID:30078822|PMID:30420677|PMID:32155092|PMID:33673806|PMID:34975533 10056813 CV196467 NM_170707.4(LMNA):c.646C>T (p.Arg216Cys) variant DOID:0110443 dilated cardiomyopathy 1B IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial PMID:17377071|PMID:23183350|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27506821|PMID:28492532|PMID:28878402|PMID:29237675|PMID:29943882|PMID:30007954|PMID:30078822|PMID:30420677|PMID:32155092|PMID:33673806|PMID:34975533 10056813 CV196467 NM_170707.4(LMNA):c.646C>T (p.Arg216Cys) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:17377071|PMID:23183350|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27506821|PMID:28492532|PMID:28878402|PMID:29237675|PMID:29943882|PMID:30007954|PMID:30078822|PMID:30420677|PMID:32155092|PMID:33673806|PMID:34975533 10056813 CV196467 NM_170707.4(LMNA):c.646C>T (p.Arg216Cys) variant DOID:9006138 Laminopathies IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Laminopathies PMID:17377071|PMID:23183350|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27506821|PMID:28492532|PMID:28878402|PMID:29237675|PMID:29943882|PMID:30007954|PMID:30078822|PMID:30420677|PMID:32155092|PMID:33673806|PMID:34975533 10056814 CV196476 NM_170707.4(LMNA):c.1057C>T (p.Gln353Ter) variant DOID:0050539 Charcot-Marie-Tooth disease type 2 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:25741868|PMID:25886484|PMID:28152038|PMID:28492532 10056814 CV196476 NM_170707.4(LMNA):c.1057C>T (p.Gln353Ter) variant DOID:0111198 autosomal dominant distal hereditary motor neuronopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Autosomal dominant distal hereditary motor neuropathy PMID:18585512|PMID:18926329|PMID:25741868|PMID:25886484|PMID:28152038|PMID:28492532 10056816 CV196470 NM_170707.4(LMNA):c.768G>A (p.Val256=) variant DOID:0050440 familial partial lipodystrophy IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: LIPODYSTROPHY, REVERSE PARTIAL PMID:24033266|PMID:25741868|PMID:28492532|PMID:28679633|PMID:4740717 10056816 CV196470 NM_170707.4(LMNA):c.768G>A (p.Val256=) variant DOID:0050539 Charcot-Marie-Tooth disease type 2 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:24033266|PMID:25741868|PMID:28492532|PMID:28679633|PMID:4740717 10056816 CV196470 NM_170707.4(LMNA):c.768G>A (p.Val256=) variant DOID:0070202 familial partial lipodystrophy type 2 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Partial lipodystrophy, Dunnigan PMID:24033266|PMID:25741868|PMID:28492532|PMID:28679633|PMID:4740717 10056816 CV196470 NM_170707.4(LMNA):c.768G>A (p.Val256=) variant DOID:0070247 autosomal dominant Emery-Dreifuss muscular dystrophy 2 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, proximal, type 1B PMID:24033266|PMID:25741868|PMID:28492532|PMID:28679633|PMID:4740717 10056816 CV196470 NM_170707.4(LMNA):c.768G>A (p.Val256=) variant DOID:0070248 autosomal recessive Emery-Dreifuss muscular dystrophy 3 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 3, autosomal recessive PMID:24033266|PMID:25741868|PMID:28492532|PMID:28679633|PMID:4740717 10056816 CV196470 NM_170707.4(LMNA):c.768G>A (p.Val256=) variant DOID:0070370 restrictive dermopathy 2 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: RESTRICTIVE DERMOPATHY 2, LETHAL PMID:24033266|PMID:25741868|PMID:28492532|PMID:28679633|PMID:4740717 10056816 CV196470 NM_170707.4(LMNA):c.768G>A (p.Val256=) variant DOID:0081128 mandibuloacral dysplasia type A lipodystrophy IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: LIPODYSTROPHY, TYPE A, ASSOCIATED WITH MANDIBULOACRAL DYSPLASIA PMID:24033266|PMID:25741868|PMID:28492532|PMID:28679633|PMID:4740717 10056816 CV196470 NM_170707.4(LMNA):c.768G>A (p.Val256=) variant DOID:0110156 Charcot-Marie-Tooth disease type 2B1 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2B1 PMID:24033266|PMID:25741868|PMID:28492532|PMID:28679633|PMID:4740717 10056816 CV196470 NM_170707.4(LMNA):c.768G>A (p.Val256=) variant DOID:0110425 dilated cardiomyopathy 1A IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:24033266|PMID:25741868|PMID:28492532|PMID:28679633|PMID:4740717 10056816 CV196470 NM_170707.4(LMNA):c.768G>A (p.Val256=) variant DOID:0110640 congenital muscular dystrophy due to LMNA mutation IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy, LMNA-related PMID:24033266|PMID:25741868|PMID:28492532|PMID:28679633|PMID:4740717 10056816 CV196470 NM_170707.4(LMNA):c.768G>A (p.Val256=) variant DOID:0111584 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome PMID:24033266|PMID:25741868|PMID:28492532|PMID:28679633|PMID:4740717 10056816 CV196470 NM_170707.4(LMNA):c.768G>A (p.Val256=) variant DOID:11726 Emery-Dreifuss muscular dystrophy IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532|PMID:28679633|PMID:4740717 10056816 CV196470 NM_170707.4(LMNA):c.768G>A (p.Val256=) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532|PMID:28679633|PMID:4740717 10056816 CV196470 NM_170707.4(LMNA):c.768G>A (p.Val256=) variant DOID:3911 progeria IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hutchinson-Gilford syndrome PMID:24033266|PMID:25741868|PMID:28492532|PMID:28679633|PMID:4740717 10056816 CV196470 NM_170707.4(LMNA):c.768G>A (p.Val256=) variant DOID:9003205 Heart-Hand Syndrome, Slovenian Type IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Heart-hand syndrome, Slovenian type PMID:24033266|PMID:25741868|PMID:28492532|PMID:28679633|PMID:4740717 10056817 CV196473 NM_170707.4(LMNA):c.871G>A (p.Glu291Lys) variant DOID:0110425 dilated cardiomyopathy 1A IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:17377071|PMID:20301609|PMID:20301717|PMID:25498755|PMID:25741868 10056818 CV196479 NM_170707.4(LMNA):c.1279C>T (p.Arg427Cys) variant DOID:0050440 familial partial lipodystrophy IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Lipodystrophy, reverse partial PMID:17377071|PMID:25741868|PMID:28082330|PMID:28492532|PMID:28663758|PMID:29773157|PMID:30847666|PMID:31383942|PMID:35449878|PMID:35772917|PMID:36267857|PMID:36646731|PMID:37246508 10056818 CV196479 NM_170707.4(LMNA):c.1279C>T (p.Arg427Cys) variant DOID:0050539 Charcot-Marie-Tooth disease type 2 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 PMID:17377071|PMID:25741868|PMID:28082330|PMID:28492532|PMID:28663758|PMID:29773157|PMID:30847666|PMID:31383942|PMID:35449878|PMID:35772917|PMID:36267857|PMID:36646731|PMID:37246508 10056818 CV196479 NM_170707.4(LMNA):c.1279C>T (p.Arg427Cys) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:17377071|PMID:25741868|PMID:28082330|PMID:28492532|PMID:28663758|PMID:29773157|PMID:30847666|PMID:31383942|PMID:35449878|PMID:35772917|PMID:36267857|PMID:36646731|PMID:37246508 10056818 CV196479 NM_170707.4(LMNA):c.1279C>T (p.Arg427Cys) variant DOID:0070202 familial partial lipodystrophy type 2 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Partial lipodystrophy, Dunnigan PMID:17377071|PMID:25741868|PMID:28082330|PMID:28492532|PMID:28663758|PMID:29773157|PMID:30847666|PMID:31383942|PMID:35449878|PMID:35772917|PMID:36267857|PMID:36646731|PMID:37246508 10056818 CV196479 NM_170707.4(LMNA):c.1279C>T (p.Arg427Cys) variant DOID:0070247 autosomal dominant Emery-Dreifuss muscular dystrophy 2 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, proximal, type 1B PMID:17377071|PMID:25741868|PMID:28082330|PMID:28492532|PMID:28663758|PMID:29773157|PMID:30847666|PMID:31383942|PMID:35449878|PMID:35772917|PMID:36267857|PMID:36646731|PMID:37246508 10056818 CV196479 NM_170707.4(LMNA):c.1279C>T (p.Arg427Cys) variant DOID:0070248 autosomal recessive Emery-Dreifuss muscular dystrophy 3 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 3, autosomal recessive PMID:17377071|PMID:25741868|PMID:28082330|PMID:28492532|PMID:28663758|PMID:29773157|PMID:30847666|PMID:31383942|PMID:35449878|PMID:35772917|PMID:36267857|PMID:36646731|PMID:37246508 10056818 CV196479 NM_170707.4(LMNA):c.1279C>T (p.Arg427Cys) variant DOID:0070370 restrictive dermopathy 2 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: RESTRICTIVE DERMOPATHY 2, LETHAL PMID:17377071|PMID:25741868|PMID:28082330|PMID:28492532|PMID:28663758|PMID:29773157|PMID:30847666|PMID:31383942|PMID:35449878|PMID:35772917|PMID:36267857|PMID:36646731|PMID:37246508 10056818 CV196479 NM_170707.4(LMNA):c.1279C>T (p.Arg427Cys) variant DOID:0081128 mandibuloacral dysplasia type A lipodystrophy IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Lipodystrophy, type A, associated with mandibuloacral dysplasia PMID:17377071|PMID:25741868|PMID:28082330|PMID:28492532|PMID:28663758|PMID:29773157|PMID:30847666|PMID:31383942|PMID:35449878|PMID:35772917|PMID:36267857|PMID:36646731|PMID:37246508 10056818 CV196479 NM_170707.4(LMNA):c.1279C>T (p.Arg427Cys) variant DOID:0110156 Charcot-Marie-Tooth disease type 2B1 IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2B1 PMID:17377071|PMID:25741868|PMID:28082330|PMID:28492532|PMID:28663758|PMID:29773157|PMID:30847666|PMID:31383942|PMID:35449878|PMID:35772917|PMID:36267857|PMID:36646731|PMID:37246508 10056818 CV196479 NM_170707.4(LMNA):c.1279C>T (p.Arg427Cys) variant DOID:0110425 dilated cardiomyopathy 1A IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:17377071|PMID:25741868|PMID:28082330|PMID:28492532|PMID:28663758|PMID:29773157|PMID:30847666|PMID:31383942|PMID:35449878|PMID:35772917|PMID:36267857|PMID:36646731|PMID:37246508 10056818 CV196479 NM_170707.4(LMNA):c.1279C>T (p.Arg427Cys) variant DOID:0110640 congenital muscular dystrophy due to LMNA mutation IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy, LMNA-related PMID:17377071|PMID:25741868|PMID:28082330|PMID:28492532|PMID:28663758|PMID:29773157|PMID:30847666|PMID:31383942|PMID:35449878|PMID:35772917|PMID:36267857|PMID:36646731|PMID:37246508 10056818 CV196479 NM_170707.4(LMNA):c.1279C>T (p.Arg427Cys) variant DOID:0111584 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Genital anomaly with cardiomyopathy PMID:17377071|PMID:25741868|PMID:28082330|PMID:28492532|PMID:28663758|PMID:29773157|PMID:30847666|PMID:31383942|PMID:35449878|PMID:35772917|PMID:36267857|PMID:36646731|PMID:37246508 10056818 CV196479 NM_170707.4(LMNA):c.1279C>T (p.Arg427Cys) variant DOID:11726 Emery-Dreifuss muscular dystrophy IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy PMID:17377071|PMID:25741868|PMID:28082330|PMID:28492532|PMID:28663758|PMID:29773157|PMID:30847666|PMID:31383942|PMID:35449878|PMID:35772917|PMID:36267857|PMID:36646731|PMID:37246508 10056818 CV196479 NM_170707.4(LMNA):c.1279C>T (p.Arg427Cys) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:17377071|PMID:25741868|PMID:28082330|PMID:28492532|PMID:28663758|PMID:29773157|PMID:30847666|PMID:31383942|PMID:35449878|PMID:35772917|PMID:36267857|PMID:36646731|PMID:37246508 10056818 CV196479 NM_170707.4(LMNA):c.1279C>T (p.Arg427Cys) variant DOID:3911 progeria IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Hutchinson-Gilford syndrome PMID:17377071|PMID:25741868|PMID:28082330|PMID:28492532|PMID:28663758|PMID:29773157|PMID:30847666|PMID:31383942|PMID:35449878|PMID:35772917|PMID:36267857|PMID:36646731|PMID:37246508 10056818 CV196479 NM_170707.4(LMNA):c.1279C>T (p.Arg427Cys) variant DOID:9003205 Heart-Hand Syndrome, Slovenian Type IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Heart-hand syndrome, Slovenian type PMID:17377071|PMID:25741868|PMID:28082330|PMID:28492532|PMID:28663758|PMID:29773157|PMID:30847666|PMID:31383942|PMID:35449878|PMID:35772917|PMID:36267857|PMID:36646731|PMID:37246508 10056821 CV196483 NM_170707.4(LMNA):c.1567G>C (p.Gly523Arg) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:24623722|PMID:25741868|PMID:29961767|PMID:29970176|PMID:32193531|PMID:32826072 10056823 CV196488 NM_170707.4(LMNA):c.1880G>A (p.Arg627His) variant DOID:0050539 Charcot-Marie-Tooth disease type 2 IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:25741868|PMID:28492532|PMID:31264968 10056823 CV196488 NM_170707.4(LMNA):c.1880G>A (p.Arg627His) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532|PMID:31264968 10056823 CV196488 NM_170707.4(LMNA):c.1880G>A (p.Arg627His) variant DOID:0111584 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome PMID:25741868|PMID:28492532|PMID:31264968 10056824 CV196446 NM_170707.4(LMNA):c.3G>T (p.Met1Ile) variant DOID:0050539 Charcot-Marie-Tooth disease type 2 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:17377071|PMID:18551513|PMID:20980393|PMID:21632249|PMID:28492532|PMID:29211919 10056828 CV196450 NM_170707.4(LMNA):c.250G>A (p.Glu84Lys) variant DOID:0050440 familial partial lipodystrophy IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: LIPODYSTROPHY, REVERSE PARTIAL PMID:23183350|PMID:23349452|PMID:25741868|PMID:28492532|PMID:31514951 10056828 CV196450 NM_170707.4(LMNA):c.250G>A (p.Glu84Lys) variant DOID:0050539 Charcot-Marie-Tooth disease type 2 IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 PMID:23183350|PMID:23349452|PMID:25741868|PMID:28492532|PMID:31514951 10056828 CV196450 NM_170707.4(LMNA):c.250G>A (p.Glu84Lys) variant DOID:0070202 familial partial lipodystrophy type 2 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Partial lipodystrophy, Dunnigan PMID:23183350|PMID:23349452|PMID:25741868|PMID:28492532|PMID:31514951 10056828 CV196450 NM_170707.4(LMNA):c.250G>A (p.Glu84Lys) variant DOID:0070247 autosomal dominant Emery-Dreifuss muscular dystrophy 2 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, proximal, type 1B PMID:23183350|PMID:23349452|PMID:25741868|PMID:28492532|PMID:31514951 10056828 CV196450 NM_170707.4(LMNA):c.250G>A (p.Glu84Lys) variant DOID:0070248 autosomal recessive Emery-Dreifuss muscular dystrophy 3 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 3, autosomal recessive PMID:23183350|PMID:23349452|PMID:25741868|PMID:28492532|PMID:31514951 10056828 CV196450 NM_170707.4(LMNA):c.250G>A (p.Glu84Lys) variant DOID:0070370 restrictive dermopathy 2 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: RESTRICTIVE DERMOPATHY 2, LETHAL PMID:23183350|PMID:23349452|PMID:25741868|PMID:28492532|PMID:31514951 10056828 CV196450 NM_170707.4(LMNA):c.250G>A (p.Glu84Lys) variant DOID:0081128 mandibuloacral dysplasia type A lipodystrophy IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: LIPODYSTROPHY, TYPE A, ASSOCIATED WITH MANDIBULOACRAL DYSPLASIA PMID:23183350|PMID:23349452|PMID:25741868|PMID:28492532|PMID:31514951 10056828 CV196450 NM_170707.4(LMNA):c.250G>A (p.Glu84Lys) variant DOID:0110156 Charcot-Marie-Tooth disease type 2B1 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2B1 PMID:23183350|PMID:23349452|PMID:25741868|PMID:28492532|PMID:31514951 10056828 CV196450 NM_170707.4(LMNA):c.250G>A (p.Glu84Lys) variant DOID:0110425 dilated cardiomyopathy 1A IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation PMID:23183350|PMID:23349452|PMID:25741868|PMID:28492532|PMID:31514951 10056828 CV196450 NM_170707.4(LMNA):c.250G>A (p.Glu84Lys) variant DOID:0110640 congenital muscular dystrophy due to LMNA mutation IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy, LMNA-related PMID:23183350|PMID:23349452|PMID:25741868|PMID:28492532|PMID:31514951 10056828 CV196450 NM_170707.4(LMNA):c.250G>A (p.Glu84Lys) variant DOID:0111584 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome PMID:23183350|PMID:23349452|PMID:25741868|PMID:28492532|PMID:31514951 10056828 CV196450 NM_170707.4(LMNA):c.250G>A (p.Glu84Lys) variant DOID:11726 Emery-Dreifuss muscular dystrophy IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy PMID:23183350|PMID:23349452|PMID:25741868|PMID:28492532|PMID:31514951 10056828 CV196450 NM_170707.4(LMNA):c.250G>A (p.Glu84Lys) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:23183350|PMID:23349452|PMID:25741868|PMID:28492532|PMID:31514951 10056828 CV196450 NM_170707.4(LMNA):c.250G>A (p.Glu84Lys) variant DOID:3911 progeria IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hutchinson-Gilford syndrome PMID:23183350|PMID:23349452|PMID:25741868|PMID:28492532|PMID:31514951 10056828 CV196450 NM_170707.4(LMNA):c.250G>A (p.Glu84Lys) variant DOID:9003205 Heart-Hand Syndrome, Slovenian Type IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Heart-hand syndrome, Slovenian type PMID:23183350|PMID:23349452|PMID:25741868|PMID:28492532|PMID:31514951 10056830 CV196455 NM_170707.4(LMNA):c.339dup (p.Lys114Ter) variant DOID:0050539 Charcot-Marie-Tooth disease type 2 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:18585512|PMID:18926329|PMID:28492532|PMID:31977013 10056832 CV196464 NM_170707.4(LMNA):c.522del (p.Ala175fs) variant DOID:0050539 Charcot-Marie-Tooth disease type 2 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:17377071|PMID:18585512|PMID:18926329|PMID:25741868|PMID:28492532 10056832 CV196464 NM_170707.4(LMNA):c.522del (p.Ala175fs) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:17377071|PMID:18585512|PMID:18926329|PMID:25741868|PMID:28492532 10056834 CV196472 NM_170707.4(LMNA):c.859del (p.Ala287fs) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:17377071 10056836 CV196475 NM_170707.4(LMNA):c.978_979del (p.Leu327fs) variant DOID:0050539 Charcot-Marie-Tooth disease type 2 IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 PMID:18585512|PMID:18926329|PMID:28492532 10056839 CV196468 NM_170707.4(LMNA):c.647G>A (p.Arg216His) variant DOID:0050440 familial partial lipodystrophy IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Lipodystrophy, reverse partial PMID:23183350|PMID:25741868|PMID:26467025|PMID:27506821|PMID:28492532|PMID:28878402|PMID:29237675|PMID:29892087|PMID:29943882|PMID:30007954|PMID:30420677|PMID:30615648|PMID:32376792|PMID:32880476|PMID:34495297|PMID:34768595|PMID:36971006 10056839 CV196468 NM_170707.4(LMNA):c.647G>A (p.Arg216His) variant DOID:0050539 Charcot-Marie-Tooth disease type 2 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 PMID:23183350|PMID:25741868|PMID:26467025|PMID:27506821|PMID:28492532|PMID:28878402|PMID:29237675|PMID:29892087|PMID:29943882|PMID:30007954|PMID:30420677|PMID:30615648|PMID:32376792|PMID:32880476|PMID:34495297|PMID:34768595|PMID:36971006 10056839 CV196468 NM_170707.4(LMNA):c.647G>A (p.Arg216His) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23183350|PMID:25741868|PMID:26467025|PMID:27506821|PMID:28492532|PMID:28878402|PMID:29237675|PMID:29892087|PMID:29943882|PMID:30007954|PMID:30420677|PMID:30615648|PMID:32376792|PMID:32880476|PMID:34495297|PMID:34768595|PMID:36971006 10056839 CV196468 NM_170707.4(LMNA):c.647G>A (p.Arg216His) variant DOID:0070202 familial partial lipodystrophy type 2 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Partial lipodystrophy, Dunnigan PMID:23183350|PMID:25741868|PMID:26467025|PMID:27506821|PMID:28492532|PMID:28878402|PMID:29237675|PMID:29892087|PMID:29943882|PMID:30007954|PMID:30420677|PMID:30615648|PMID:32376792|PMID:32880476|PMID:34495297|PMID:34768595|PMID:36971006 10056839 CV196468 NM_170707.4(LMNA):c.647G>A (p.Arg216His) variant DOID:0070247 autosomal dominant Emery-Dreifuss muscular dystrophy 2 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Muscular dystrophy, proximal, type 1B PMID:23183350|PMID:25741868|PMID:26467025|PMID:27506821|PMID:28492532|PMID:28878402|PMID:29237675|PMID:29892087|PMID:29943882|PMID:30007954|PMID:30420677|PMID:30615648|PMID:32376792|PMID:32880476|PMID:34495297|PMID:34768595|PMID:36971006 10056839 CV196468 NM_170707.4(LMNA):c.647G>A (p.Arg216His) variant DOID:0070248 autosomal recessive Emery-Dreifuss muscular dystrophy 3 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 3, autosomal recessive PMID:23183350|PMID:25741868|PMID:26467025|PMID:27506821|PMID:28492532|PMID:28878402|PMID:29237675|PMID:29892087|PMID:29943882|PMID:30007954|PMID:30420677|PMID:30615648|PMID:32376792|PMID:32880476|PMID:34495297|PMID:34768595|PMID:36971006 10056839 CV196468 NM_170707.4(LMNA):c.647G>A (p.Arg216His) variant DOID:0070370 restrictive dermopathy 2 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: RESTRICTIVE DERMOPATHY 2, LETHAL PMID:23183350|PMID:25741868|PMID:26467025|PMID:27506821|PMID:28492532|PMID:28878402|PMID:29237675|PMID:29892087|PMID:29943882|PMID:30007954|PMID:30420677|PMID:30615648|PMID:32376792|PMID:32880476|PMID:34495297|PMID:34768595|PMID:36971006 10056839 CV196468 NM_170707.4(LMNA):c.647G>A (p.Arg216His) variant DOID:0081128 mandibuloacral dysplasia type A lipodystrophy IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Lipodystrophy, type A, associated with mandibuloacral dysplasia PMID:23183350|PMID:25741868|PMID:26467025|PMID:27506821|PMID:28492532|PMID:28878402|PMID:29237675|PMID:29892087|PMID:29943882|PMID:30007954|PMID:30420677|PMID:30615648|PMID:32376792|PMID:32880476|PMID:34495297|PMID:34768595|PMID:36971006 10056839 CV196468 NM_170707.4(LMNA):c.647G>A (p.Arg216His) variant DOID:0110156 Charcot-Marie-Tooth disease type 2B1 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2B1 PMID:23183350|PMID:25741868|PMID:26467025|PMID:27506821|PMID:28492532|PMID:28878402|PMID:29237675|PMID:29892087|PMID:29943882|PMID:30007954|PMID:30420677|PMID:30615648|PMID:32376792|PMID:32880476|PMID:34495297|PMID:34768595|PMID:36971006 10056839 CV196468 NM_170707.4(LMNA):c.647G>A (p.Arg216His) variant DOID:0110425 dilated cardiomyopathy 1A IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:23183350|PMID:25741868|PMID:26467025|PMID:27506821|PMID:28492532|PMID:28878402|PMID:29237675|PMID:29892087|PMID:29943882|PMID:30007954|PMID:30420677|PMID:30615648|PMID:32376792|PMID:32880476|PMID:34495297|PMID:34768595|PMID:36971006 10056839 CV196468 NM_170707.4(LMNA):c.647G>A (p.Arg216His) variant DOID:0110640 congenital muscular dystrophy due to LMNA mutation IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Congenital muscular dystrophy, LMNA-related PMID:23183350|PMID:25741868|PMID:26467025|PMID:27506821|PMID:28492532|PMID:28878402|PMID:29237675|PMID:29892087|PMID:29943882|PMID:30007954|PMID:30420677|PMID:30615648|PMID:32376792|PMID:32880476|PMID:34495297|PMID:34768595|PMID:36971006 10056839 CV196468 NM_170707.4(LMNA):c.647G>A (p.Arg216His) variant DOID:0111584 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome PMID:23183350|PMID:25741868|PMID:26467025|PMID:27506821|PMID:28492532|PMID:28878402|PMID:29237675|PMID:29892087|PMID:29943882|PMID:30007954|PMID:30420677|PMID:30615648|PMID:32376792|PMID:32880476|PMID:34495297|PMID:34768595|PMID:36971006 10056839 CV196468 NM_170707.4(LMNA):c.647G>A (p.Arg216His) variant DOID:10595 Charcot-Marie-Tooth disease IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:23183350|PMID:25741868|PMID:26467025|PMID:27506821|PMID:28492532|PMID:28878402|PMID:29237675|PMID:29892087|PMID:29943882|PMID:30007954|PMID:30420677|PMID:30615648|PMID:32376792|PMID:32880476|PMID:34495297|PMID:34768595|PMID:36971006 10056839 CV196468 NM_170707.4(LMNA):c.647G>A (p.Arg216His) variant DOID:11726 Emery-Dreifuss muscular dystrophy IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy PMID:23183350|PMID:25741868|PMID:26467025|PMID:27506821|PMID:28492532|PMID:28878402|PMID:29237675|PMID:29892087|PMID:29943882|PMID:30007954|PMID:30420677|PMID:30615648|PMID:32376792|PMID:32880476|PMID:34495297|PMID:34768595|PMID:36971006 10056839 CV196468 NM_170707.4(LMNA):c.647G>A (p.Arg216His) variant DOID:12930 dilated cardiomyopathy IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Primary dilated cardiomyopathy PMID:23183350|PMID:25741868|PMID:26467025|PMID:27506821|PMID:28492532|PMID:28878402|PMID:29237675|PMID:29892087|PMID:29943882|PMID:30007954|PMID:30420677|PMID:30615648|PMID:32376792|PMID:32880476|PMID:34495297|PMID:34768595|PMID:36971006 10056839 CV196468 NM_170707.4(LMNA):c.647G>A (p.Arg216His) variant DOID:3911 progeria IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Hutchinson-Gilford syndrome PMID:23183350|PMID:25741868|PMID:26467025|PMID:27506821|PMID:28492532|PMID:28878402|PMID:29237675|PMID:29892087|PMID:29943882|PMID:30007954|PMID:30420677|PMID:30615648|PMID:32376792|PMID:32880476|PMID:34495297|PMID:34768595|PMID:36971006 10056839 CV196468 NM_170707.4(LMNA):c.647G>A (p.Arg216His) variant DOID:9003205 Heart-Hand Syndrome, Slovenian Type IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Heart-hand syndrome, Slovenian type PMID:23183350|PMID:25741868|PMID:26467025|PMID:27506821|PMID:28492532|PMID:28878402|PMID:29237675|PMID:29892087|PMID:29943882|PMID:30007954|PMID:30420677|PMID:30615648|PMID:32376792|PMID:32880476|PMID:34495297|PMID:34768595|PMID:36971006 10056839 CV196468 NM_170707.4(LMNA):c.647G>A (p.Arg216His) variant DOID:9005141 Ventricular Tachycardia IAGP D RGD:8554872 20250408 ClinVar ClinVar Annotator: match by term: Ventricular tachycardia PMID:23183350|PMID:25741868|PMID:26467025|PMID:27506821|PMID:28492532|PMID:28878402|PMID:29237675|PMID:29892087|PMID:29943882|PMID:30007954|PMID:30420677|PMID:30615648|PMID:32376792|PMID:32880476|PMID:34495297|PMID:34768595|PMID:36971006 10056839 CV196468 NM_170707.4(LMNA):c.647G>A (p.Arg216His) variant DOID:9006138 Laminopathies IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Laminopathies PMID:23183350|PMID:25741868|PMID:26467025|PMID:27506821|PMID:28492532|PMID:28878402|PMID:29237675|PMID:29892087|PMID:29943882|PMID:30007954|PMID:30420677|PMID:30615648|PMID:32376792|PMID:32880476|PMID:34495297|PMID:34768595|PMID:36971006 10056840 CV196480 NM_170707.4(LMNA):c.1401G>A (p.Trp467Ter) variant DOID:0050539 Charcot-Marie-Tooth disease type 2 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 PMID:18585512|PMID:18926329|PMID:25741868|PMID:28333919|PMID:28492532 10056840 CV196480 NM_170707.4(LMNA):c.1401G>A (p.Trp467Ter) variant DOID:0110425 dilated cardiomyopathy 1A IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1A PMID:18585512|PMID:18926329|PMID:25741868|PMID:28333919|PMID:28492532 10056842 CV196487 NM_005572.4(LMNA):c.1714C>T (p.Arg572Cys) variant DOID:0050539 Charcot-Marie-Tooth disease type 2 IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 PMID:25741868|PMID:28492532 10056842 CV196487 NM_005572.4(LMNA):c.1714C>T (p.Arg572Cys) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10056843 CV197568 NM_001370259.2(MEN1):c.35C>T (p.Pro12Leu) variant DOID:10017 multiple endocrine neoplasia type 1 IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 PMID:12509449|PMID:15254225|PMID:21264250|PMID:21819486|PMID:22090276|PMID:28492532|PMID:31658439|PMID:9215689 10056844 CV197564 NM_001370259.2(MEN1):c.85C>T (p.Arg29Ter) variant DOID:10017 multiple endocrine neoplasia type 1 IAGP D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 PMID:10395246|PMID:12112656|PMID:15714081|PMID:17853334|PMID:22549346|PMID:24997771|PMID:28492532|PMID:9832038 10056844 CV197564 NM_001370259.2(MEN1):c.85C>T (p.Arg29Ter) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10395246|PMID:12112656|PMID:15714081|PMID:17853334|PMID:22549346|PMID:24997771|PMID:28492532|PMID:9832038 10056845 CV197562 NM_001370259.2(MEN1):c.113C>T (p.Ser38Phe) variant DOID:10017 multiple endocrine neoplasia type 1 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 PMID:23244744|PMID:25741868|PMID:28492532|PMID:30339208 10056845 CV197562 NM_001370259.2(MEN1):c.113C>T (p.Ser38Phe) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:23244744|PMID:25741868|PMID:28492532|PMID:30339208 10056846 CV197555 NM_001370259.2(MEN1):c.473C>A (p.Ala158Asp) variant DOID:10017 multiple endocrine neoplasia type 1 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 PMID:10534569|PMID:12050235|PMID:17623761|PMID:17766710|PMID:19461164|PMID:21819486|PMID:22026581|PMID:25741868|PMID:28492532|PMID:9215689|PMID:9709921 10056846 CV197555 NM_001370259.2(MEN1):c.473C>A (p.Ala158Asp) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10534569|PMID:12050235|PMID:17623761|PMID:17766710|PMID:19461164|PMID:21819486|PMID:22026581|PMID:25741868|PMID:28492532|PMID:9215689|PMID:9709921 10056847 CV197554 NM_001370259.2(MEN1):c.515A>T (p.Asp172Val) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20200407 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10027401|PMID:10594843|PMID:11836268|PMID:12112656|PMID:9683585|PMID:9888389 10056849 CV197552 NM_001370259.2(MEN1):c.526G>C (p.Ala176Pro) variant DOID:10017 multiple endocrine neoplasia type 1 IAGP D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 PMID:11221882|PMID:12509449|PMID:19074834|PMID:22090276|PMID:22327296|PMID:23648481|PMID:28492532|PMID:30869828|PMID:9215689|PMID:9671267|PMID:9989505 10056849 CV197552 NM_001370259.2(MEN1):c.526G>C (p.Ala176Pro) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:11221882|PMID:12509449|PMID:19074834|PMID:22090276|PMID:22327296|PMID:23648481|PMID:28492532|PMID:30869828|PMID:9215689|PMID:9671267|PMID:9989505 10056850 CV197546 NM_001370259.2(MEN1):c.652C>T (p.Arg218Trp) variant DOID:10017 multiple endocrine neoplasia type 1 IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 PMID:25741868|PMID:26767918|PMID:28298337|PMID:28492532|PMID:29122330|PMID:30869828|PMID:32191290 10056850 CV197546 NM_001370259.2(MEN1):c.652C>T (p.Arg218Trp) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20250708 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:26767918|PMID:28298337|PMID:28492532|PMID:29122330|PMID:30869828|PMID:32191290 10056851 CV197547 NM_001370259.2(MEN1):c.643G>A (p.Val215Met) variant DOID:10017 multiple endocrine neoplasia type 1 IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 PMID:10664520|PMID:15464422|PMID:17879353|PMID:21464564|PMID:25309785|PMID:28492532|PMID:33632163 10056852 CV197545 NM_001370259.2(MEN1):c.654+1G>T variant DOID:10017 multiple endocrine neoplasia type 1 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 PMID:12112656|PMID:15635078|PMID:16199547|PMID:17853334|PMID:21678021|PMID:22275377|PMID:28492532|PMID:9064485|PMID:9671073|PMID:9709921 10056852 CV197545 NM_001370259.2(MEN1):c.654+1G>T variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:12112656|PMID:15635078|PMID:16199547|PMID:17853334|PMID:21678021|PMID:22275377|PMID:28492532|PMID:9064485|PMID:9671073|PMID:9709921 10056854 CV197542 NM_001370259.2(MEN1):c.722G>A (p.Cys241Tyr) variant DOID:10017 multiple endocrine neoplasia type 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 PMID:10090472|PMID:10576763|PMID:12652570|PMID:17853334|PMID:20231234|PMID:28492532 10056854 CV197542 NM_001370259.2(MEN1):c.722G>A (p.Cys241Tyr) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10090472|PMID:10576763|PMID:12652570|PMID:17853334|PMID:20231234|PMID:28492532 10056855 CV197538 NM_001370259.2(MEN1):c.784-9G>A variant DOID:10017 multiple endocrine neoplasia type 1 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 PMID:10090472|PMID:10424788|PMID:10576763|PMID:10861493|PMID:12050235|PMID:15730416|PMID:16430712|PMID:16563611|PMID:16699310|PMID:17235589|PMID:17388795|PMID:17879353|PMID:21340165|PMID:22470073|PMID:23052745|PMID:25741868|PMID:26180530|PMID:26467025|PMID:28298337|PMID:28492532|PMID:28870973|PMID:29036195|PMID:30324798|PMID:32715272|PMID:35407574|PMID:37761922|PMID:9463336|PMID:9935177 10056855 CV197538 NM_001370259.2(MEN1):c.784-9G>A variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10090472|PMID:10424788|PMID:10576763|PMID:10861493|PMID:12050235|PMID:15730416|PMID:16430712|PMID:16563611|PMID:16699310|PMID:17235589|PMID:17388795|PMID:17879353|PMID:21340165|PMID:22470073|PMID:23052745|PMID:25741868|PMID:26180530|PMID:26467025|PMID:28298337|PMID:28492532|PMID:28870973|PMID:29036195|PMID:30324798|PMID:32715272|PMID:35407574|PMID:37761922|PMID:9463336|PMID:9935177 10056856 CV197537 NM_001370259.2(MEN1):c.834G>A (p.Met278Ile) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome 10056857 CV197534 NM_001370259.2(MEN1):c.1117C>G (p.Pro373Ala) variant DOID:10017 multiple endocrine neoplasia type 1 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 PMID:26767918|PMID:27846313|PMID:28492532 10056857 CV197534 NM_001370259.2(MEN1):c.1117C>G (p.Pro373Ala) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:26767918|PMID:27846313|PMID:28492532 10056859 CV197527 NM_001370259.2(MEN1):c.1351-1G>C variant DOID:10017 multiple endocrine neoplasia type 1 IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 PMID:10617276|PMID:17185897|PMID:17576681|PMID:28492532|PMID:9536098 10056860 CV197523 NM_001370259.2(MEN1):c.1549A>T (p.Lys517Ter) variant DOID:10017 multiple endocrine neoplasia type 1 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 PMID:11578300|PMID:17158764|PMID:17853334|PMID:26767918|PMID:28492532|PMID:31275768 10056860 CV197523 NM_001370259.2(MEN1):c.1549A>T (p.Lys517Ter) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:11578300|PMID:17158764|PMID:17853334|PMID:26767918|PMID:28492532|PMID:31275768 10056861 CV197521 NM_001370259.2(MEN1):c.1618C>T (p.Pro540Ser) variant DOID:10017 multiple endocrine neoplasia type 1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 PMID:12652570|PMID:23321498|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30755392|PMID:30869828|PMID:31431315|PMID:32130200|PMID:32761341|PMID:34313384|PMID:34939938 10056861 CV197521 NM_001370259.2(MEN1):c.1618C>T (p.Pro540Ser) variant DOID:13543 hyperparathyroidism IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hyperparathyroidism PMID:12652570|PMID:23321498|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30755392|PMID:30869828|PMID:31431315|PMID:32130200|PMID:32761341|PMID:34313384|PMID:34939938 10056861 CV197521 NM_001370259.2(MEN1):c.1618C>T (p.Pro540Ser) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:12652570|PMID:23321498|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30755392|PMID:30869828|PMID:31431315|PMID:32130200|PMID:32761341|PMID:34313384|PMID:34939938 10056862 CV197519 NM_001370259.2(MEN1):c.1660C>T (p.Gln554Ter) variant DOID:10017 multiple endocrine neoplasia type 1 IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 PMID:11578300|PMID:17158764|PMID:17853334|PMID:28321559|PMID:28492532 10056862 CV197519 NM_001370259.2(MEN1):c.1660C>T (p.Gln554Ter) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:11578300|PMID:17158764|PMID:17853334|PMID:28321559|PMID:28492532 10056865 CV197514 NM_001370259.2(MEN1):c.1730T>C (p.Leu577Pro) variant DOID:10017 multiple endocrine neoplasia type 1 IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 PMID:22327296|PMID:28492532 10056865 CV197514 NM_001370259.2(MEN1):c.1730T>C (p.Leu577Pro) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:22327296|PMID:28492532 10056866 CV197513 NM_001370259.2(MEN1):c.1814G>A (p.Arg605Gln) variant DOID:10017 multiple endocrine neoplasia type 1 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 PMID:10612827|PMID:28492532|PMID:30869828 10056870 CV197559 NM_001370259.2(MEN1):c.307del (p.Leu103fs) variant DOID:10017 multiple endocrine neoplasia type 1 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 PMID:10090472|PMID:12112656|PMID:15522929|PMID:15714081|PMID:17853334|PMID:24033266|PMID:28492532|PMID:29927501|PMID:30865533|PMID:34515662|PMID:9103196|PMID:9215689|PMID:9671267|PMID:9709921 10056870 CV197559 NM_001370259.2(MEN1):c.307del (p.Leu103fs) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10090472|PMID:12112656|PMID:15522929|PMID:15714081|PMID:17853334|PMID:24033266|PMID:28492532|PMID:29927501|PMID:30865533|PMID:34515662|PMID:9103196|PMID:9215689|PMID:9671267|PMID:9709921 10056871 CV197548 NM_001370259.2(MEN1):c.628_631del (p.Thr210fs) variant DOID:10017 multiple endocrine neoplasia type 1 IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 PMID:10664520|PMID:12112656|PMID:12746426|PMID:15635078|PMID:15670192|PMID:16563611|PMID:17065424|PMID:17853334|PMID:17879353|PMID:22026581|PMID:23154721|PMID:24599222|PMID:25309785|PMID:25741868|PMID:26467025|PMID:26767918|PMID:28492532|PMID:28870973|PMID:29036195|PMID:30324798|PMID:31482957|PMID:31592449|PMID:32430905|PMID:37351122|PMID:9103196|PMID:9709921 10056871 CV197548 NM_001370259.2(MEN1):c.628_631del (p.Thr210fs) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10664520|PMID:12112656|PMID:12746426|PMID:15635078|PMID:15670192|PMID:16563611|PMID:17065424|PMID:17853334|PMID:17879353|PMID:22026581|PMID:23154721|PMID:24599222|PMID:25309785|PMID:25741868|PMID:26467025|PMID:26767918|PMID:28492532|PMID:28870973|PMID:29036195|PMID:30324798|PMID:31482957|PMID:31592449|PMID:32430905|PMID:37351122|PMID:9103196|PMID:9709921 10056873 CV197525 NM_001370259.2(MEN1):c.1546del (p.Arg516fs) variant DOID:10017 multiple endocrine neoplasia type 1 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 PMID:11966739|PMID:12050235|PMID:12112656|PMID:12213668|PMID:15331604|PMID:15670192|PMID:16449969|PMID:17065424|PMID:17853334|PMID:17879353|PMID:23321498|PMID:23565397|PMID:23933118|PMID:26467025|PMID:26767918|PMID:28492532|PMID:31482957|PMID:32909176|PMID:9215689|PMID:9463336 10056873 CV197525 NM_001370259.2(MEN1):c.1546del (p.Arg516fs) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:11966739|PMID:12050235|PMID:12112656|PMID:12213668|PMID:15331604|PMID:15670192|PMID:16449969|PMID:17065424|PMID:17853334|PMID:17879353|PMID:23321498|PMID:23565397|PMID:23933118|PMID:26467025|PMID:26767918|PMID:28492532|PMID:31482957|PMID:32909176|PMID:9215689|PMID:9463336 10056875 CV197528 NM_001370259.2(MEN1):c.1350+1_1350+11del variant DOID:10017 multiple endocrine neoplasia type 1 IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 PMID:10090472|PMID:12112656|PMID:15714081|PMID:16199547|PMID:16563611|PMID:17065424|PMID:17853334|PMID:25741868|PMID:26467025|PMID:27846313|PMID:28492532|PMID:30324798|PMID:9709921 10056875 CV197528 NM_001370259.2(MEN1):c.1350+1_1350+11del variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20250211 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10090472|PMID:12112656|PMID:15714081|PMID:16199547|PMID:16563611|PMID:17065424|PMID:17853334|PMID:25741868|PMID:26467025|PMID:27846313|PMID:28492532|PMID:30324798|PMID:9709921 10056876 CV197524 NM_001370259.2(MEN1):c.1548dup (p.Lys517fs) variant DOID:10017 multiple endocrine neoplasia type 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 PMID:10090472|PMID:15331604|PMID:15635078|PMID:16449969|PMID:25741868|PMID:28492532|PMID:31249555|PMID:9215690|PMID:9893679 10056876 CV197524 NM_001370259.2(MEN1):c.1548dup (p.Lys517fs) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10090472|PMID:15331604|PMID:15635078|PMID:16449969|PMID:25741868|PMID:28492532|PMID:31249555|PMID:9215690|PMID:9893679 10056880 CV197558 NM_001370259.2(MEN1):c.322C>T (p.Arg108Ter) variant DOID:10017 multiple endocrine neoplasia type 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 PMID:10980535|PMID:12112656|PMID:17853334|PMID:18045958|PMID:22470073|PMID:25525159|PMID:28492532|PMID:9215690|PMID:9683585 10056880 CV197558 NM_001370259.2(MEN1):c.322C>T (p.Arg108Ter) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10980535|PMID:12112656|PMID:17853334|PMID:18045958|PMID:22470073|PMID:25525159|PMID:28492532|PMID:9215690|PMID:9683585 10056883 CV197550 NM_001370259.2(MEN1):c.548G>A (p.Trp183Ter) variant DOID:10017 multiple endocrine neoplasia type 1 IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 PMID:12112656|PMID:17853334|PMID:21655742|PMID:25741868|PMID:28492532|PMID:9215690|PMID:9671267 10056883 CV197550 NM_001370259.2(MEN1):c.548G>A (p.Trp183Ter) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:12112656|PMID:17853334|PMID:21655742|PMID:25741868|PMID:28492532|PMID:9215690|PMID:9671267 10056884 CV197549 NM_001370259.2(MEN1):c.594G>A (p.Trp198Ter) variant DOID:10017 multiple endocrine neoplasia type 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 PMID:12112656|PMID:17623761|PMID:17853334|PMID:28492532|PMID:33840689|PMID:9103196|PMID:9215689|PMID:9564891|PMID:9671267 10056886 CV197541 NM_001370259.2(MEN1):c.758C>T (p.Ser253Leu) variant DOID:10017 multiple endocrine neoplasia type 1 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 PMID:17623761|PMID:20660572|PMID:21757704|PMID:21819486|PMID:22327296|PMID:25741868|PMID:28492532|PMID:30869828|PMID:31737856 10056886 CV197541 NM_001370259.2(MEN1):c.758C>T (p.Ser253Leu) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:17623761|PMID:20660572|PMID:21757704|PMID:21819486|PMID:22327296|PMID:25741868|PMID:28492532|PMID:30869828|PMID:31737856 10056887 CV197540 NM_001370259.2(MEN1):c.783+1G>T variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:9683585 10056888 CV197533 NM_001370259.2(MEN1):c.1158C>T (p.Gly386=) variant DOID:10017 multiple endocrine neoplasia type 1 IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 PMID:28492532 10056888 CV197533 NM_001370259.2(MEN1):c.1158C>T (p.Gly386=) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20200410 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:28492532 10056889 CV197531 NM_001370259.2(MEN1):c.1252G>C (p.Asp418His) variant DOID:10017 multiple endocrine neoplasia type 1 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 PMID:11303512|PMID:11836268|PMID:12050235|PMID:14985373|PMID:15730416|PMID:16430712|PMID:17766710|PMID:25309785|PMID:25741868|PMID:28492532|PMID:9463336 10056889 CV197531 NM_001370259.2(MEN1):c.1252G>C (p.Asp418His) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:11303512|PMID:11836268|PMID:12050235|PMID:14985373|PMID:15730416|PMID:16430712|PMID:17766710|PMID:25309785|PMID:25741868|PMID:28492532|PMID:9463336 10056890 CV197530 NM_001370259.2(MEN1):c.1324C>T (p.Gln442Ter) variant DOID:10017 multiple endocrine neoplasia type 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 PMID:12112656|PMID:17879353|PMID:22470073|PMID:23321498|PMID:25824098|PMID:28492532|PMID:9215689|PMID:9439676 10056890 CV197530 NM_001370259.2(MEN1):c.1324C>T (p.Gln442Ter) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:12112656|PMID:17879353|PMID:22470073|PMID:23321498|PMID:25824098|PMID:28492532|PMID:9215689|PMID:9439676 10056894 CV197535 NM_001370259.2(MEN1):c.1110del (p.Asp370fs) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20200410 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:26767918 10056899 CV198036 NM_000268.4(NF2):c.810+1G>A variant DOID:0111252 vestibular schwannomatosis IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:16199547|PMID:16983642|PMID:28492532|PMID:29761250|PMID:9643284 10056899 CV198036 NM_000268.4(NF2):c.810+1G>A variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:16199547|PMID:16983642|PMID:28492532|PMID:29761250|PMID:9643284 10056900 CV198037 NM_000268.4(NF2):c.1540A>G (p.Met514Val) variant DOID:0111252 vestibular schwannomatosis IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Neurofibromatosis, type 2 PMID:16983642|PMID:25741868|PMID:26045165|PMID:26332594|PMID:28492532|PMID:29316957|PMID:29409008|PMID:33058421 10056900 CV198037 NM_000268.4(NF2):c.1540A>G (p.Met514Val) variant DOID:4586 familial meningioma IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Meningioma, familial, susceptibility to PMID:16983642|PMID:25741868|PMID:26045165|PMID:26332594|PMID:28492532|PMID:29316957|PMID:29409008|PMID:33058421 10056900 CV198037 NM_000268.4(NF2):c.1540A>G (p.Met514Val) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:16983642|PMID:25741868|PMID:26045165|PMID:26332594|PMID:28492532|PMID:29316957|PMID:29409008|PMID:33058421 10056901 CV196754 NM_174936.4(PCSK9):c.644G>A (p.Arg215His) variant DOID:0090105 autosomal recessive hypercholesterolemia IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Homozygous familial hypercholesterolemia PMID:18266662|PMID:18631360|PMID:21147780|PMID:25741868|PMID:26374825|PMID:26633542|PMID:27896130|PMID:28008010|PMID:28492532|PMID:30526649|PMID:31491741|PMID:34037665|PMID:34407635|PMID:36980993 10056901 CV196754 NM_174936.4(PCSK9):c.644G>A (p.Arg215His) variant DOID:13810 familial hypercholesterolemia IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:18266662|PMID:18631360|PMID:21147780|PMID:25741868|PMID:26374825|PMID:26633542|PMID:27896130|PMID:28008010|PMID:28492532|PMID:30526649|PMID:31491741|PMID:34037665|PMID:34407635|PMID:36980993 10056901 CV196754 NM_174936.4(PCSK9):c.644G>A (p.Arg215His) variant DOID:9005308 Hypercholesterolemia, Autosomal Dominant, 3 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, 3 PMID:18266662|PMID:18631360|PMID:21147780|PMID:25741868|PMID:26374825|PMID:26633542|PMID:27896130|PMID:28008010|PMID:28492532|PMID:30526649|PMID:31491741|PMID:34037665|PMID:34407635|PMID:36980993 10056901 CV196754 NM_174936.4(PCSK9):c.644G>A (p.Arg215His) variant DOID:9005519 Hyperlipoproteinemia Type II IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia PMID:18266662|PMID:18631360|PMID:21147780|PMID:25741868|PMID:26374825|PMID:26633542|PMID:27896130|PMID:28008010|PMID:28492532|PMID:30526649|PMID:31491741|PMID:34037665|PMID:34407635|PMID:36980993 10056902 CV196756 NM_174936.4(PCSK9):c.1405C>T (p.Arg469Trp) variant DOID:13810 familial hypercholesterolemia IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia PMID:16211558|PMID:16465619|PMID:17804797|PMID:19022446|PMID:19191301|PMID:21943799|PMID:23663650|PMID:24252255|PMID:24808179|PMID:25741868|PMID:25744035|PMID:26332594|PMID:26467025|PMID:27516387|PMID:27765764|PMID:28008010|PMID:28492532|PMID:29127338|PMID:29259136|PMID:30710474|PMID:31106297|PMID:33147992 10056902 CV196756 NM_174936.4(PCSK9):c.1405C>T (p.Arg469Trp) variant DOID:1390 hypobetalipoproteinemia IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hypobetalipoproteinemia PMID:16211558|PMID:16465619|PMID:17804797|PMID:19022446|PMID:19191301|PMID:21943799|PMID:23663650|PMID:24252255|PMID:24808179|PMID:25741868|PMID:25744035|PMID:26332594|PMID:26467025|PMID:27516387|PMID:27765764|PMID:28008010|PMID:28492532|PMID:29127338|PMID:29259136|PMID:30710474|PMID:31106297|PMID:33147992 10056902 CV196756 NM_174936.4(PCSK9):c.1405C>T (p.Arg469Trp) variant DOID:9005308 Hypercholesterolemia, Autosomal Dominant, 3 IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Familial hypercholesterolemia 3 PMID:16211558|PMID:16465619|PMID:17804797|PMID:19022446|PMID:19191301|PMID:21943799|PMID:23663650|PMID:24252255|PMID:24808179|PMID:25741868|PMID:25744035|PMID:26332594|PMID:26467025|PMID:27516387|PMID:27765764|PMID:28008010|PMID:28492532|PMID:29127338|PMID:29259136|PMID:30710474|PMID:31106297|PMID:33147992 10056902 CV196756 NM_174936.4(PCSK9):c.1405C>T (p.Arg469Trp) variant DOID:9005519 Hyperlipoproteinemia Type II IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia PMID:16211558|PMID:16465619|PMID:17804797|PMID:19022446|PMID:19191301|PMID:21943799|PMID:23663650|PMID:24252255|PMID:24808179|PMID:25741868|PMID:25744035|PMID:26332594|PMID:26467025|PMID:27516387|PMID:27765764|PMID:28008010|PMID:28492532|PMID:29127338|PMID:29259136|PMID:30710474|PMID:31106297|PMID:33147992 10056903 CV196758 NM_174936.4(PCSK9):c.1486C>T (p.Arg496Trp) variant DOID:13810 familial hypercholesterolemia IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 PMID:16183066|PMID:16571601|PMID:16912035|PMID:17380167|PMID:17765244|PMID:19081568|PMID:19191301|PMID:23375686|PMID:24033266|PMID:24808179|PMID:25741868|PMID:26374825|PMID:26633542|PMID:27206942|PMID:27280970|PMID:28008010|PMID:28492532|PMID:28777095|PMID:28994502|PMID:29259136|PMID:29724976|PMID:30293936|PMID:31491741|PMID:31949048|PMID:32044282|PMID:32058034|PMID:32719484|PMID:33147992|PMID:33269076|PMID:33303402|PMID:33533259|PMID:34521694|PMID:34526433|PMID:35929461|PMID:36087353|PMID:37469559 10056903 CV196758 NM_174936.4(PCSK9):c.1486C>T (p.Arg496Trp) variant DOID:1390 hypobetalipoproteinemia IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Hypobetalipoproteinemia PMID:16183066|PMID:16571601|PMID:16912035|PMID:17380167|PMID:17765244|PMID:19081568|PMID:19191301|PMID:23375686|PMID:24033266|PMID:24808179|PMID:25741868|PMID:26374825|PMID:26633542|PMID:27206942|PMID:27280970|PMID:28008010|PMID:28492532|PMID:28777095|PMID:28994502|PMID:29259136|PMID:29724976|PMID:30293936|PMID:31491741|PMID:31949048|PMID:32044282|PMID:32058034|PMID:32719484|PMID:33147992|PMID:33269076|PMID:33303402|PMID:33533259|PMID:34521694|PMID:34526433|PMID:35929461|PMID:36087353|PMID:37469559 10056903 CV196758 NM_174936.4(PCSK9):c.1486C>T (p.Arg496Trp) variant DOID:9005308 Hypercholesterolemia, Autosomal Dominant, 3 IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, 3 PMID:16183066|PMID:16571601|PMID:16912035|PMID:17380167|PMID:17765244|PMID:19081568|PMID:19191301|PMID:23375686|PMID:24033266|PMID:24808179|PMID:25741868|PMID:26374825|PMID:26633542|PMID:27206942|PMID:27280970|PMID:28008010|PMID:28492532|PMID:28777095|PMID:28994502|PMID:29259136|PMID:29724976|PMID:30293936|PMID:31491741|PMID:31949048|PMID:32044282|PMID:32058034|PMID:32719484|PMID:33147992|PMID:33269076|PMID:33303402|PMID:33533259|PMID:34521694|PMID:34526433|PMID:35929461|PMID:36087353|PMID:37469559 10056903 CV196758 NM_174936.4(PCSK9):c.1486C>T (p.Arg496Trp) variant DOID:9005519 Hyperlipoproteinemia Type II IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia PMID:16183066|PMID:16571601|PMID:16912035|PMID:17380167|PMID:17765244|PMID:19081568|PMID:19191301|PMID:23375686|PMID:24033266|PMID:24808179|PMID:25741868|PMID:26374825|PMID:26633542|PMID:27206942|PMID:27280970|PMID:28008010|PMID:28492532|PMID:28777095|PMID:28994502|PMID:29259136|PMID:29724976|PMID:30293936|PMID:31491741|PMID:31949048|PMID:32044282|PMID:32058034|PMID:32719484|PMID:33147992|PMID:33269076|PMID:33303402|PMID:33533259|PMID:34521694|PMID:34526433|PMID:35929461|PMID:36087353|PMID:37469559 10056905 CV197379 NM_020975.6(RET):c.2542A>G (p.Met848Val) variant DOID:0050430 multiple endocrine neoplasia type 2A IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2 PMID:25741868|PMID:28492532 10056905 CV197379 NM_020975.6(RET):c.2542A>G (p.Met848Val) variant DOID:10487 Hirschsprung's disease IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:25741868|PMID:28492532 10056905 CV197379 NM_020975.6(RET):c.2542A>G (p.Met848Val) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532 10056906 CV197380 NM_020975.6(RET):c.2831T>G (p.Ile944Ser) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome 10056909 CV197385 NM_020975.6(RET):c.3275A>G (p.Asn1092Ser) variant DOID:0050430 multiple endocrine neoplasia type 2A IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2 PMID:28492532 10056910 CV197386 NM_020975.6(RET):c.3314C>T (p.Ala1105Val) variant DOID:0050430 multiple endocrine neoplasia type 2A IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2a PMID:22729463|PMID:24033266|PMID:25741868|PMID:28492532|PMID:33827484 10056910 CV197386 NM_020975.6(RET):c.3314C>T (p.Ala1105Val) variant DOID:10487 Hirschsprung's disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:22729463|PMID:24033266|PMID:25741868|PMID:28492532|PMID:33827484 10056910 CV197386 NM_020975.6(RET):c.3314C>T (p.Ala1105Val) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:22729463|PMID:24033266|PMID:25741868|PMID:28492532|PMID:33827484 10056913 CV197378 NM_020975.6(RET):c.2234A>T (p.His745Leu) variant DOID:0050430 multiple endocrine neoplasia type 2A IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2 PMID:25741868|PMID:28492532 10056913 CV197378 NM_020975.6(RET):c.2234A>T (p.His745Leu) variant DOID:10487 Hirschsprung's disease IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:25741868|PMID:28492532 10056913 CV197378 NM_020975.6(RET):c.2234A>T (p.His745Leu) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532 10056915 CV198032 NM_000540.3(RYR1):c.12847G>A (p.Glu4283Lys) variant DOID:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10056916 CV198033 NM_000540.3(RYR1):c.14304-6C>A variant DOID:0080102 congenital myopathy 4A IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion PMID:25741868|PMID:28492532 10056916 CV198033 NM_000540.3(RYR1):c.14304-6C>A variant DOID:0080990 King Denborough syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: King syndrome PMID:25741868|PMID:28492532 10056916 CV198033 NM_000540.3(RYR1):c.14304-6C>A variant DOID:0080991 congenital myopathy 1B IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Multiminicore disease with external ophthalmoplegia PMID:25741868|PMID:28492532 10056916 CV198033 NM_000540.3(RYR1):c.14304-6C>A variant DOID:3529 congenital myopathy 1A IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Shy-Magee syndrome PMID:25741868|PMID:28492532 10056916 CV198033 NM_000540.3(RYR1):c.14304-6C>A variant DOID:422 congenital structural myopathy IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy PMID:25741868|PMID:28492532 10056916 CV198033 NM_000540.3(RYR1):c.14304-6C>A variant DOID:8545 malignant hyperthermia IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Malignant hyperpyrexia PMID:25741868|PMID:28492532 10056916 CV198033 NM_000540.3(RYR1):c.14304-6C>A variant DOID:9005320 Malignant Fever IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pharmacogenic myopathy PMID:25741868|PMID:28492532 10056917 CV198019 NM_000540.3(RYR1):c.1861A>G (p.Thr621Ala) variant DOID:8545 malignant hyperthermia IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Malignant hyperthermia, susceptibility to, 1 PMID:25741868 10056918 CV198022 NM_000540.3(RYR1):c.2645C>T (p.Ala882Val) variant DOID:0080102 congenital myopathy 4A IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion PMID:24215330|PMID:25741868|PMID:28492532|PMID:37937776 10056918 CV198022 NM_000540.3(RYR1):c.2645C>T (p.Ala882Val) variant DOID:0080990 King Denborough syndrome IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: King syndrome PMID:24215330|PMID:25741868|PMID:28492532|PMID:37937776 10056918 CV198022 NM_000540.3(RYR1):c.2645C>T (p.Ala882Val) variant DOID:0080991 congenital myopathy 1B IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Multicore myopathy with external ophthalmoplegia PMID:24215330|PMID:25741868|PMID:28492532|PMID:37937776 10056918 CV198022 NM_000540.3(RYR1):c.2645C>T (p.Ala882Val) variant DOID:3529 congenital myopathy 1A IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Shy-Magee syndrome PMID:24215330|PMID:25741868|PMID:28492532|PMID:37937776 10056918 CV198022 NM_000540.3(RYR1):c.2645C>T (p.Ala882Val) variant DOID:422 congenital structural myopathy IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy PMID:24215330|PMID:25741868|PMID:28492532|PMID:37937776 10056918 CV198022 NM_000540.3(RYR1):c.2645C>T (p.Ala882Val) variant DOID:8545 malignant hyperthermia IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Malignant hyperpyrexia PMID:24215330|PMID:25741868|PMID:28492532|PMID:37937776 10056918 CV198022 NM_000540.3(RYR1):c.2645C>T (p.Ala882Val) variant DOID:9005320 Malignant Fever IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Pharmacogenic myopathy PMID:24215330|PMID:25741868|PMID:28492532|PMID:37937776 10056919 CV198023 NM_000540.3(RYR1):c.2989C>T (p.Arg997Ter) variant DOID:8545 malignant hyperthermia IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Malignant hyperpyrexia PMID:20583297|PMID:20839240|PMID:23919265|PMID:25741868|PMID:28357410|PMID:28492532|PMID:28818389|PMID:31127727 10056919 CV198023 NM_000540.3(RYR1):c.2989C>T (p.Arg997Ter) variant DOID:9005320 Malignant Fever IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Pharmacogenic myopathy PMID:20583297|PMID:20839240|PMID:23919265|PMID:25741868|PMID:28357410|PMID:28492532|PMID:28818389|PMID:31127727 10056920 CV198024 NM_000540.3(RYR1):c.3236C>G (p.Ser1079Cys) variant DOID:0080102 congenital myopathy 4A IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion PMID:25741868|PMID:28492532 10056920 CV198024 NM_000540.3(RYR1):c.3236C>G (p.Ser1079Cys) variant DOID:0080990 King Denborough syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: King syndrome PMID:25741868|PMID:28492532 10056920 CV198024 NM_000540.3(RYR1):c.3236C>G (p.Ser1079Cys) variant DOID:0080991 congenital myopathy 1B IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Multiminicore disease with external ophthalmoplegia PMID:25741868|PMID:28492532 10056920 CV198024 NM_000540.3(RYR1):c.3236C>G (p.Ser1079Cys) variant DOID:3529 congenital myopathy 1A IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Shy-Magee syndrome PMID:25741868|PMID:28492532 10056920 CV198024 NM_000540.3(RYR1):c.3236C>G (p.Ser1079Cys) variant DOID:422 congenital structural myopathy IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy PMID:25741868|PMID:28492532 10056920 CV198024 NM_000540.3(RYR1):c.3236C>G (p.Ser1079Cys) variant DOID:8545 malignant hyperthermia IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Malignant hyperpyrexia PMID:25741868|PMID:28492532 10056920 CV198024 NM_000540.3(RYR1):c.3236C>G (p.Ser1079Cys) variant DOID:9005320 Malignant Fever IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pharmacogenic myopathy PMID:25741868|PMID:28492532 10056921 CV198025 NM_000540.3(RYR1):c.3301G>A (p.Val1101Met) variant DOID:3529 congenital myopathy 1A IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Shy-Magee syndrome PMID:25741868|PMID:2842332|PMID:28492532 10056921 CV198025 NM_000540.3(RYR1):c.3301G>A (p.Val1101Met) variant DOID:8545 malignant hyperthermia IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Malignant hyperpyrexia PMID:25741868|PMID:2842332|PMID:28492532 10056921 CV198025 NM_000540.3(RYR1):c.3301G>A (p.Val1101Met) variant DOID:9005320 Malignant Fever IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Pharmacogenic myopathy PMID:25741868|PMID:2842332|PMID:28492532 10056922 CV196509 NM_001035.3(RYR2):c.309+5G>T variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:17576681|PMID:28492532|PMID:9536098 10056923 CV198026 NM_000540.3(RYR1):c.4088C>T (p.Ala1363Val) variant DOID:8545 malignant hyperthermia IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Malignant hyperpyrexia PMID:25741868|PMID:28492532 10056923 CV198026 NM_000540.3(RYR1):c.4088C>T (p.Ala1363Val) variant DOID:9005320 Malignant Fever IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Pharmacogenic myopathy PMID:25741868|PMID:28492532 10056924 CV198028 NM_000540.3(RYR1):c.5384C>T (p.Pro1795Leu) variant DOID:0080102 congenital myopathy 4A IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion PMID:25741868|PMID:28492532 10056924 CV198028 NM_000540.3(RYR1):c.5384C>T (p.Pro1795Leu) variant DOID:0080990 King Denborough syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: King syndrome PMID:25741868|PMID:28492532 10056924 CV198028 NM_000540.3(RYR1):c.5384C>T (p.Pro1795Leu) variant DOID:0080991 congenital myopathy 1B IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Multiminicore disease with external ophthalmoplegia PMID:25741868|PMID:28492532 10056924 CV198028 NM_000540.3(RYR1):c.5384C>T (p.Pro1795Leu) variant DOID:3529 congenital myopathy 1A IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Shy-Magee syndrome PMID:25741868|PMID:28492532 10056924 CV198028 NM_000540.3(RYR1):c.5384C>T (p.Pro1795Leu) variant DOID:422 congenital structural myopathy IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy PMID:25741868|PMID:28492532 10056924 CV198028 NM_000540.3(RYR1):c.5384C>T (p.Pro1795Leu) variant DOID:8545 malignant hyperthermia IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Malignant hyperpyrexia PMID:25741868|PMID:28492532 10056924 CV198028 NM_000540.3(RYR1):c.5384C>T (p.Pro1795Leu) variant DOID:9005320 Malignant Fever IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Pharmacogenic myopathy PMID:25741868|PMID:28492532 10056925 CV198031 NM_000540.3(RYR1):c.12083C>T (p.Ser4028Leu) variant DOID:0080991 congenital myopathy 1B IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: CONGENITAL MYOPATHY 1B, AUTOSOMAL RECESSIVE PMID:12565913|PMID:25741868|PMID:25987458|PMID:27447704|PMID:28492532|PMID:32236737|PMID:33333461|PMID:34463354|PMID:34535181|PMID:34809703 10056925 CV198031 NM_000540.3(RYR1):c.12083C>T (p.Ser4028Leu) variant DOID:14717 centronuclear myopathy IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Centronuclear myopathy PMID:12565913|PMID:25741868|PMID:25987458|PMID:27447704|PMID:28492532|PMID:32236737|PMID:33333461|PMID:34463354|PMID:34535181|PMID:34809703 10056925 CV198031 NM_000540.3(RYR1):c.12083C>T (p.Ser4028Leu) variant DOID:3529 congenital myopathy 1A IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Shy-Magee syndrome PMID:12565913|PMID:25741868|PMID:25987458|PMID:27447704|PMID:28492532|PMID:32236737|PMID:33333461|PMID:34463354|PMID:34535181|PMID:34809703 10056925 CV198031 NM_000540.3(RYR1):c.12083C>T (p.Ser4028Leu) variant DOID:422 congenital structural myopathy IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Myotubular myopathy PMID:12565913|PMID:25741868|PMID:25987458|PMID:27447704|PMID:28492532|PMID:32236737|PMID:33333461|PMID:34463354|PMID:34535181|PMID:34809703 10056925 CV198031 NM_000540.3(RYR1):c.12083C>T (p.Ser4028Leu) variant DOID:630 genetic disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12565913|PMID:25741868|PMID:25987458|PMID:27447704|PMID:28492532|PMID:32236737|PMID:33333461|PMID:34463354|PMID:34535181|PMID:34809703 10056925 CV198031 NM_000540.3(RYR1):c.12083C>T (p.Ser4028Leu) variant DOID:8545 malignant hyperthermia IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Malignant hyperpyrexia PMID:12565913|PMID:25741868|PMID:25987458|PMID:27447704|PMID:28492532|PMID:32236737|PMID:33333461|PMID:34463354|PMID:34535181|PMID:34809703 10056925 CV198031 NM_000540.3(RYR1):c.12083C>T (p.Ser4028Leu) variant DOID:9005320 Malignant Fever IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Pharmacogenic myopathy PMID:12565913|PMID:25741868|PMID:25987458|PMID:27447704|PMID:28492532|PMID:32236737|PMID:33333461|PMID:34463354|PMID:34535181|PMID:34809703 10056927 CV198035 NM_000540.3(RYR1):c.14928C>G (p.Phe4976Leu) variant DOID:0080991 congenital myopathy 1B IAGP D RGD:8554872 20240611 ClinVar ClinVar Annotator: match by term: Congenital myopathy 1B, autosomal recessive PMID:24706162|PMID:25637381|PMID:25741868|PMID:25882082|PMID:28492532|PMID:30155320 10056927 CV198035 NM_000540.3(RYR1):c.14928C>G (p.Phe4976Leu) variant DOID:3529 congenital myopathy 1A IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Shy-Magee syndrome PMID:24706162|PMID:25637381|PMID:25741868|PMID:25882082|PMID:28492532|PMID:30155320 10056927 CV198035 NM_000540.3(RYR1):c.14928C>G (p.Phe4976Leu) variant DOID:630 genetic disease IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:24706162|PMID:25637381|PMID:25741868|PMID:25882082|PMID:28492532|PMID:30155320 10056927 CV198035 NM_000540.3(RYR1):c.14928C>G (p.Phe4976Leu) variant DOID:8545 malignant hyperthermia IAGP D RGD:8554872 20230613 ClinVar ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia PMID:24706162|PMID:25637381|PMID:25741868|PMID:25882082|PMID:28492532|PMID:30155320 10056927 CV198035 NM_000540.3(RYR1):c.14928C>G (p.Phe4976Leu) variant DOID:9005320 Malignant Fever IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Pharmacogenic myopathy PMID:24706162|PMID:25637381|PMID:25741868|PMID:25882082|PMID:28492532|PMID:30155320 10056928 CV198020 NM_000540.3(RYR1):c.1883G>A (p.Arg628His) variant DOID:8545 malignant hyperthermia IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Malignant hyperpyrexia PMID:25741868|PMID:28492532 10056928 CV198020 NM_000540.3(RYR1):c.1883G>A (p.Arg628His) variant DOID:9005320 Malignant Fever IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Pharmacogenic myopathy PMID:25741868|PMID:28492532 10056929 CV198021 NM_000540.3(RYR1):c.2551G>A (p.Val851Met) variant DOID:0080991 congenital myopathy 1B IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Minicore myopathy with external ophthalmoplegia PMID:25741868|PMID:28492532 10056929 CV198021 NM_000540.3(RYR1):c.2551G>A (p.Val851Met) variant DOID:630 genetic disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10056929 CV198021 NM_000540.3(RYR1):c.2551G>A (p.Val851Met) variant DOID:8545 malignant hyperthermia IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Malignant hyperpyrexia PMID:25741868|PMID:28492532 10056929 CV198021 NM_000540.3(RYR1):c.2551G>A (p.Val851Met) variant DOID:9005320 Malignant Fever IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Pharmacogenic myopathy PMID:25741868|PMID:28492532 10056930 CV198027 NM_000540.3(RYR1):c.5234C>G (p.Thr1745Arg) variant DOID:0080102 congenital myopathy 4A IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion PMID:25741868|PMID:28492532 10056930 CV198027 NM_000540.3(RYR1):c.5234C>G (p.Thr1745Arg) variant DOID:0080990 King Denborough syndrome IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: King syndrome PMID:25741868|PMID:28492532 10056930 CV198027 NM_000540.3(RYR1):c.5234C>G (p.Thr1745Arg) variant DOID:0080991 congenital myopathy 1B IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Minicore myopathy PMID:25741868|PMID:28492532 10056930 CV198027 NM_000540.3(RYR1):c.5234C>G (p.Thr1745Arg) variant DOID:3529 congenital myopathy 1A IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Shy-Magee syndrome PMID:25741868|PMID:28492532 10056930 CV198027 NM_000540.3(RYR1):c.5234C>G (p.Thr1745Arg) variant DOID:422 congenital structural myopathy IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy PMID:25741868|PMID:28492532 10056930 CV198027 NM_000540.3(RYR1):c.5234C>G (p.Thr1745Arg) variant DOID:8545 malignant hyperthermia IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Malignant hyperpyrexia PMID:25741868|PMID:28492532 10056930 CV198027 NM_000540.3(RYR1):c.5234C>G (p.Thr1745Arg) variant DOID:9005320 Malignant Fever IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Pharmacogenic myopathy PMID:25741868|PMID:28492532 10056931 CV198030 NM_000540.3(RYR1):c.9262G>A (p.Val3088Met) variant DOID:0080991 congenital myopathy 1B IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Minicore myopathy PMID:25741868|PMID:26994242|PMID:28003660|PMID:28492532 10056931 CV198030 NM_000540.3(RYR1):c.9262G>A (p.Val3088Met) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:26994242|PMID:28003660|PMID:28492532 10056931 CV198030 NM_000540.3(RYR1):c.9262G>A (p.Val3088Met) variant DOID:3529 congenital myopathy 1A IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Shy-Magee syndrome PMID:25741868|PMID:26994242|PMID:28003660|PMID:28492532 10056931 CV198030 NM_000540.3(RYR1):c.9262G>A (p.Val3088Met) variant DOID:8545 malignant hyperthermia IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Malignant hyperpyrexia PMID:25741868|PMID:26994242|PMID:28003660|PMID:28492532 10056931 CV198030 NM_000540.3(RYR1):c.9262G>A (p.Val3088Met) variant DOID:9002119 Malignant Hypothermia IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Malignant hypothermia PMID:25741868|PMID:26994242|PMID:28003660|PMID:28492532 10056931 CV198030 NM_000540.3(RYR1):c.9262G>A (p.Val3088Met) variant DOID:9005001 Congenital Neuromuscular Disease, with Uniform Type 1 Fiber IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Neuromuscular disease, congenital, with uniform type 1 fiber PMID:25741868|PMID:26994242|PMID:28003660|PMID:28492532 10056931 CV198030 NM_000540.3(RYR1):c.9262G>A (p.Val3088Met) variant DOID:9005320 Malignant Fever IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Pharmacogenic myopathy PMID:25741868|PMID:26994242|PMID:28003660|PMID:28492532 10056933 CV196542 NM_001035.3(RYR2):c.1319C>T (p.Ala440Val) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10056933 CV196542 NM_001035.3(RYR2):c.1319C>T (p.Ala440Val) variant DOID:0060674 catecholaminergic polymorphic ventricular tachycardia IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28492532 10056933 CV196542 NM_001035.3(RYR2):c.1319C>T (p.Ala440Val) variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia type 1 PMID:25741868|PMID:28492532 10056934 CV196564 NM_001035.3(RYR2):c.2482C>T (p.Pro828Ser) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10056934 CV196564 NM_001035.3(RYR2):c.2482C>T (p.Pro828Ser) variant DOID:0060674 catecholaminergic polymorphic ventricular tachycardia IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28492532 10056934 CV196564 NM_001035.3(RYR2):c.2482C>T (p.Pro828Ser) variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 PMID:25741868|PMID:28492532 10056935 CV196577 NM_001035.3(RYR2):c.3517A>G (p.Met1173Val) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10056935 CV196577 NM_001035.3(RYR2):c.3517A>G (p.Met1173Val) variant DOID:0060674 catecholaminergic polymorphic ventricular tachycardia IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28492532 10056935 CV196577 NM_001035.3(RYR2):c.3517A>G (p.Met1173Val) variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:25741868|PMID:28492532 10056936 CV196582 NM_001035.3(RYR2):c.3897C>G (p.Ile1299Met) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10056936 CV196582 NM_001035.3(RYR2):c.3897C>G (p.Ile1299Met) variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:25741868|PMID:28492532 10056938 CV196588 NM_001035.3(RYR2):c.4096A>G (p.Thr1366Ala) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10056938 CV196588 NM_001035.3(RYR2):c.4096A>G (p.Thr1366Ala) variant DOID:0060674 catecholaminergic polymorphic ventricular tachycardia IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28492532 10056938 CV196588 NM_001035.3(RYR2):c.4096A>G (p.Thr1366Ala) variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:25741868|PMID:28492532 10056939 CV196595 NM_001035.3(RYR2):c.4652A>G (p.Asn1551Ser) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23595086|PMID:25741868|PMID:26332594|PMID:26498160|PMID:27538377|PMID:27756708|PMID:28492532 10056939 CV196595 NM_001035.3(RYR2):c.4652A>G (p.Asn1551Ser) variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia type 1 PMID:23595086|PMID:25741868|PMID:26332594|PMID:26498160|PMID:27538377|PMID:27756708|PMID:28492532 10056940 CV196661 NM_001035.3(RYR2):c.9655G>A (p.Val3219Met) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:24033266|PMID:25041964|PMID:25741868|PMID:28404607|PMID:28492532|PMID:31402444|PMID:31568572|PMID:34213952|PMID:37904629 10056940 CV196661 NM_001035.3(RYR2):c.9655G>A (p.Val3219Met) variant DOID:0060674 catecholaminergic polymorphic ventricular tachycardia IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:24033266|PMID:25041964|PMID:25741868|PMID:28404607|PMID:28492532|PMID:31402444|PMID:31568572|PMID:34213952|PMID:37904629 10056940 CV196661 NM_001035.3(RYR2):c.9655G>A (p.Val3219Met) variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:24033266|PMID:25041964|PMID:25741868|PMID:28404607|PMID:28492532|PMID:31402444|PMID:31568572|PMID:34213952|PMID:37904629 10056941 CV196722 NM_001035.3(RYR2):c.12826G>A (p.Val4276Met) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10056941 CV196722 NM_001035.3(RYR2):c.12826G>A (p.Val4276Met) variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:25741868|PMID:28492532 10056942 CV196724 NM_001035.3(RYR2):c.12917T>C (p.Phe4306Ser) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:26569459|PMID:28492532 10056942 CV196724 NM_001035.3(RYR2):c.12917T>C (p.Phe4306Ser) variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:25741868|PMID:26569459|PMID:28492532 10056943 CV196686 NM_001035.3(RYR2):c.11814C>A (p.Ser3938Arg) variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:16818210|PMID:28492532|PMID:30403697 10056945 CV196507 NM_001035.3(RYR2):c.239A>G (p.Glu80Gly) variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:28492532 10056946 CV196508 NM_001035.3(RYR2):c.301A>G (p.Met101Val) variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:28492532 10056947 CV196510 NM_001035.3(RYR2):c.458C>T (p.Thr153Ile) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:25741868|PMID:28404607|PMID:28449774|PMID:28492532|PMID:31337358|PMID:37589201 10056947 CV196510 NM_001035.3(RYR2):c.458C>T (p.Thr153Ile) variant DOID:0060674 catecholaminergic polymorphic ventricular tachycardia IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28404607|PMID:28449774|PMID:28492532|PMID:31337358|PMID:37589201 10056947 CV196510 NM_001035.3(RYR2):c.458C>T (p.Thr153Ile) variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:25741868|PMID:28404607|PMID:28449774|PMID:28492532|PMID:31337358|PMID:37589201 10056949 CV196513 NM_001035.3(RYR2):c.527G>A (p.Arg176Gln) variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:11159936|PMID:16188589|PMID:16873551|PMID:18752142|PMID:19926015|PMID:20106799|PMID:20157052|PMID:21454795|PMID:22374134|PMID:24025405|PMID:24136861|PMID:25741868|PMID:27482086|PMID:27838126|PMID:28492532|PMID:30355031|PMID:31112425 10056949 CV196513 NM_001035.3(RYR2):c.527G>A (p.Arg176Gln) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: RYR2-related condition PMID:11159936|PMID:16188589|PMID:16873551|PMID:18752142|PMID:19926015|PMID:20106799|PMID:20157052|PMID:21454795|PMID:22374134|PMID:24025405|PMID:24136861|PMID:25741868|PMID:27482086|PMID:27838126|PMID:28492532|PMID:30355031|PMID:31112425 10056952 CV196518 NM_001035.3(RYR2):c.689G>A (p.Gly230Asp) variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:21659649|PMID:28492532 10056954 CV196520 NM_001035.3(RYR2):c.719A>C (p.His240Pro) variant DOID:0060674 catecholaminergic polymorphic ventricular tachycardia IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868 10056955 CV196521 NM_001035.3(RYR2):c.727G>A (p.Glu243Lys) variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:19398665|PMID:19926015|PMID:21954897|PMID:28492532|PMID:29453246 10056958 CV196525 NM_001035.3(RYR2):c.818C>T (p.Ser273Phe) variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:28492532 10056959 CV196526 NM_001035.3(RYR2):c.839T>C (p.Leu280Pro) variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:28492532 10056960 CV196529 NM_001035.3(RYR2):c.893G>A (p.Arg298His) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10056960 CV196529 NM_001035.3(RYR2):c.893G>A (p.Arg298His) variant DOID:0060674 catecholaminergic polymorphic ventricular tachycardia IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28492532 10056960 CV196529 NM_001035.3(RYR2):c.893G>A (p.Arg298His) variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:25741868|PMID:28492532 10056960 CV196529 NM_001035.3(RYR2):c.893G>A (p.Arg298His) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: RYR2-related condition PMID:25741868|PMID:28492532 10056961 CV196530 NM_001035.3(RYR2):c.963A>T (p.Lys321Asn) variant DOID:0060674 catecholaminergic polymorphic ventricular tachycardia IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28492532 10056961 CV196530 NM_001035.3(RYR2):c.963A>T (p.Lys321Asn) variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:25741868|PMID:28492532 10056963 CV196532 NM_001035.3(RYR2):c.1082G>A (p.Cys361Tyr) variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:28492532 10056964 CV196533 NM_001035.3(RYR2):c.1144G>A (p.Val382Met) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532|PMID:30847666 10056964 CV196533 NM_001035.3(RYR2):c.1144G>A (p.Val382Met) variant DOID:0060674 catecholaminergic polymorphic ventricular tachycardia IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28492532|PMID:30847666 10056964 CV196533 NM_001035.3(RYR2):c.1144G>A (p.Val382Met) variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20250506 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:25741868|PMID:28492532|PMID:30847666 10056965 CV196534 NM_001035.3(RYR2):c.1172C>G (p.Ala391Gly) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:25741868|PMID:28404607|PMID:28492532 10056965 CV196534 NM_001035.3(RYR2):c.1172C>G (p.Ala391Gly) variant DOID:0060674 catecholaminergic polymorphic ventricular tachycardia IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28404607|PMID:28492532 10056965 CV196534 NM_001035.3(RYR2):c.1172C>G (p.Ala391Gly) variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:25741868|PMID:28404607|PMID:28492532 10056965 CV196534 NM_001035.3(RYR2):c.1172C>G (p.Ala391Gly) variant DOID:9000064 Cardiac Arrhythmias IAGP D RGD:8554872 20230606 ClinVar ClinVar Annotator: match by term: Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome PMID:25741868|PMID:28404607|PMID:28492532 10056966 CV196537 NM_001035.3(RYR2):c.1220G>T (p.Arg407Ile) variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:28492532|PMID:32152366 10056967 CV196538 NM_001035.3(RYR2):c.1240C>T (p.Arg414Cys) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:15466642|PMID:15887426|PMID:16188589|PMID:16436635|PMID:19926015|PMID:21478052|PMID:23152493|PMID:24025405|PMID:25372681|PMID:25741868|PMID:28492532|PMID:32152366|PMID:32899693|PMID:33825858|PMID:35663620 10056967 CV196538 NM_001035.3(RYR2):c.1240C>T (p.Arg414Cys) variant DOID:0060674 catecholaminergic polymorphic ventricular tachycardia IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:15466642|PMID:15887426|PMID:16188589|PMID:16436635|PMID:19926015|PMID:21478052|PMID:23152493|PMID:24025405|PMID:25372681|PMID:25741868|PMID:28492532|PMID:32152366|PMID:32899693|PMID:33825858|PMID:35663620 10056967 CV196538 NM_001035.3(RYR2):c.1240C>T (p.Arg414Cys) variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:15466642|PMID:15887426|PMID:16188589|PMID:16436635|PMID:19926015|PMID:21478052|PMID:23152493|PMID:24025405|PMID:25372681|PMID:25741868|PMID:28492532|PMID:32152366|PMID:32899693|PMID:33825858|PMID:35663620 10056968 CV196539 NM_001035.3(RYR2):c.1250G>T (p.Arg417Leu) variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20250311 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:28492532|PMID:30403697 10056969 CV196540 NM_001035.3(RYR2):c.1258C>T (p.Arg420Trp) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:12106942|PMID:12459180|PMID:15544015|PMID:17062961|PMID:19926015|PMID:21616285|PMID:22221940|PMID:22373669|PMID:22374134|PMID:22787013|PMID:23549275|PMID:23871484|PMID:24025405|PMID:24033266|PMID:25087098|PMID:25193700|PMID:25440180|PMID:25741868|PMID:26153920|PMID:26743238|PMID:27114410|PMID:27452199|PMID:27538377|PMID:27646203|PMID:28158428|PMID:28422759|PMID:28449774|PMID:28492532|PMID:29477366|PMID:32152366|PMID:34127479|PMID:34317443|PMID:34930847|PMID:37886885 10056969 CV196540 NM_001035.3(RYR2):c.1258C>T (p.Arg420Trp) variant DOID:0060674 catecholaminergic polymorphic ventricular tachycardia IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:12106942|PMID:12459180|PMID:15544015|PMID:17062961|PMID:19926015|PMID:21616285|PMID:22221940|PMID:22373669|PMID:22374134|PMID:22787013|PMID:23549275|PMID:23871484|PMID:24025405|PMID:24033266|PMID:25087098|PMID:25193700|PMID:25440180|PMID:25741868|PMID:26153920|PMID:26743238|PMID:27114410|PMID:27452199|PMID:27538377|PMID:27646203|PMID:28158428|PMID:28422759|PMID:28449774|PMID:28492532|PMID:29477366|PMID:32152366|PMID:34127479|PMID:34317443|PMID:34930847|PMID:37886885 10056969 CV196540 NM_001035.3(RYR2):c.1258C>T (p.Arg420Trp) variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:12106942|PMID:12459180|PMID:15544015|PMID:17062961|PMID:19926015|PMID:21616285|PMID:22221940|PMID:22373669|PMID:22374134|PMID:22787013|PMID:23549275|PMID:23871484|PMID:24025405|PMID:24033266|PMID:25087098|PMID:25193700|PMID:25440180|PMID:25741868|PMID:26153920|PMID:26743238|PMID:27114410|PMID:27452199|PMID:27538377|PMID:27646203|PMID:28158428|PMID:28422759|PMID:28449774|PMID:28492532|PMID:29477366|PMID:32152366|PMID:34127479|PMID:34317443|PMID:34930847|PMID:37886885 10056969 CV196540 NM_001035.3(RYR2):c.1258C>T (p.Arg420Trp) variant DOID:9000184 Ventricular Fibrillation IAGP D RGD:8554872 20250701 ClinVar ClinVar Annotator: match by term: Ventricular fibrillation PMID:12106942|PMID:12459180|PMID:15544015|PMID:17062961|PMID:19926015|PMID:21616285|PMID:22221940|PMID:22373669|PMID:22374134|PMID:22787013|PMID:23549275|PMID:23871484|PMID:24025405|PMID:24033266|PMID:25087098|PMID:25193700|PMID:25440180|PMID:25741868|PMID:26153920|PMID:26743238|PMID:27114410|PMID:27452199|PMID:27538377|PMID:27646203|PMID:28158428|PMID:28422759|PMID:28449774|PMID:28492532|PMID:29477366|PMID:32152366|PMID:34127479|PMID:34317443|PMID:34930847|PMID:37886885 10056970 CV196541 NM_001035.3(RYR2):c.1259G>A (p.Arg420Gln) variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20221108 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:19926015|PMID:21616285|PMID:22221940|PMID:22373669|PMID:22787013|PMID:23595086|PMID:23871484|PMID:25440180|PMID:25554238|PMID:25741868|PMID:26114861|PMID:26132555|PMID:26153920|PMID:27452199|PMID:28422759|PMID:28449774|PMID:28492532 10056970 CV196541 NM_001035.3(RYR2):c.1259G>A (p.Arg420Gln) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20210112 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:19926015|PMID:21616285|PMID:22221940|PMID:22373669|PMID:22787013|PMID:23595086|PMID:23871484|PMID:25440180|PMID:25554238|PMID:25741868|PMID:26114861|PMID:26132555|PMID:26153920|PMID:27452199|PMID:28422759|PMID:28449774|PMID:28492532 10056971 CV196543 NM_001035.3(RYR2):c.1342C>G (p.Pro448Ala) variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:28492532 10056972 CV196545 NM_001035.3(RYR2):c.1561G>A (p.Glu521Lys) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10056972 CV196545 NM_001035.3(RYR2):c.1561G>A (p.Glu521Lys) variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:25741868|PMID:28492532 10056973 CV196546 NM_001035.3(RYR2):c.1614G>A (p.Ala538=) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10056973 CV196546 NM_001035.3(RYR2):c.1614G>A (p.Ala538=) variant DOID:0060674 catecholaminergic polymorphic ventricular tachycardia IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28492532 10056973 CV196546 NM_001035.3(RYR2):c.1614G>A (p.Ala538=) variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:25741868|PMID:28492532 10056974 CV196547 NM_001035.3(RYR2):c.1641C>A (p.Asn547Lys) variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:28492532 10056975 CV196549 NM_001035.3(RYR2):c.1675A>G (p.Ile559Val) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:25741868|PMID:28492532 10056975 CV196549 NM_001035.3(RYR2):c.1675A>G (p.Ile559Val) variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia PMID:25741868|PMID:28492532 10056977 CV196552 NM_001035.3(RYR2):c.1775G>A (p.Gly592Glu) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:28492532 10056977 CV196552 NM_001035.3(RYR2):c.1775G>A (p.Gly592Glu) variant DOID:0060674 catecholaminergic polymorphic ventricular tachycardia IAGP D RGD:8554872 20200707 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28492532 10056977 CV196552 NM_001035.3(RYR2):c.1775G>A (p.Gly592Glu) variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:25741868|PMID:28492532 10056979 CV196554 NM_001035.3(RYR2):c.1832T>C (p.Leu611Pro) variant DOID:0060675 catecholaminergic polymorphic ventricular tachycardia 1 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:28492532 10056980 CV196555 NM_001035.3(RYR2):c.1973A>G (p.Asn658Ser) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:25741868|PMID:28492532|PMID:29453246|PMID:30615648|PMID:31155924|PMID:31513939|PMID:37477868 10056980 CV196555 NM_001035.3(RYR2):c.1973A>G (p.Asn658Ser) variant DOID:0060674 catecholaminergic polymorphic ventricular tachycardia IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia PMID:25741868|PMID:28492532|PMID:29453246|PMID:30615648|PMID:3115592