# RGD-PIPELINE: ftp-file-extracts # MODULE: annotations-version-1.1.9 (Oct 10, 2019) # GENERATED-ON: 2025/02/01 # 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 10002854 MCPH1-AS1 MCPH1 antisense RNA 1 gene DOID:0070285 primary autosomal recessive microcephaly 1 IAGP RGD:11599649|RGD:11602619|RGD:11603057|RGD:11606004|RGD:11610345|RGD:11610832|RGD:11655023|RGD:11656306|RGD:153301081|RGD:28867352|RGD:28867355|RGD:28870007|RGD:28870010|RGD:28870013|RGD:28874634|RGD:28874636|RGD:28874639|RGD:28874643|RGD:405255677 D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: MCPH1-related condition | ClinVar Annotator: match by term: Microcephaly 1, primary, autosomal recessive 10002854 MCPH1-AS1 MCPH1 antisense RNA 1 gene DOID:0070285 primary autosomal recessive microcephaly 1 IAGP RGD:11600159|RGD:9682757 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Microcephaly 1, primary, autosomal recessive PMID:25741868 10002854 MCPH1-AS1 MCPH1 antisense RNA 1 gene DOID:0070285 primary autosomal recessive microcephaly 1 IAGP RGD:11603607 D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Microcephaly 1, primary, autosomal recessive PMID:25741868|PMID:26467025|PMID:28492532 10002854 MCPH1-AS1 MCPH1 antisense RNA 1 gene DOID:0070285 primary autosomal recessive microcephaly 1 IAGP RGD:11608019|RGD:150542843|RGD:38597530|RGD:9682750|RGD:9682753|RGD:9682763 D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: MCPH1-related condition | ClinVar Annotator: match by term: Microcephaly 1, primary, autosomal recessive PMID:25741868|PMID:28492532 10002854 MCPH1-AS1 MCPH1 antisense RNA 1 gene DOID:0070285 primary autosomal recessive microcephaly 1 IAGP RGD:13837483|RGD:151809485|RGD:152092662|RGD:28905781|RGD:404999261|RGD:9682759 D RGD:8554872 20241224 ClinVar ClinVar Annotator: match by term: MCPH1-related condition | ClinVar Annotator: match by term: Microcephaly 1, primary, autosomal recessive PMID:28492532 10002854 MCPH1-AS1 MCPH1 antisense RNA 1 gene DOID:0070285 primary autosomal recessive microcephaly 1 IAGP RGD:28867359 D RGD:8554872 20200609 ClinVar ClinVar Annotator: match by term: Microcephaly 1, primary, autosomal recessive PMID:20978018|PMID:22154951 10002854 MCPH1-AS1 MCPH1 antisense RNA 1 gene DOID:0070285 primary autosomal recessive microcephaly 1 IAGP RGD:8567000|RGD:8567001 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Microcephaly 1, primary, autosomal recessive PMID:18414213|PMID:20301772|PMID:25741868|PMID:26467025|PMID:28492532 10002854 MCPH1-AS1 MCPH1 antisense RNA 1 gene DOID:0070285 primary autosomal recessive microcephaly 1 IAGP RGD:9682749|RGD:9682762|RGD:9682770 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Microcephaly 1, primary, autosomal recessive PMID:18414213|PMID:25741868|PMID:28492532 10002854 MCPH1-AS1 MCPH1 antisense RNA 1 gene DOID:0070285 primary autosomal recessive microcephaly 1 IAGP RGD:9682751|RGD:9682764 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Microcephaly 1, primary, autosomal recessive PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532 10002854 MCPH1-AS1 MCPH1 antisense RNA 1 gene DOID:0070285 primary autosomal recessive microcephaly 1 IAGP RGD:9682752|RGD:9682767|RGD:9682768|RGD:9682769|RGD:9682771|RGD:9682773 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Microcephaly 1, primary, autosomal recessive PMID:18414213|PMID:28492532 10002854 MCPH1-AS1 MCPH1 antisense RNA 1 gene DOID:0070285 primary autosomal recessive microcephaly 1 IAGP RGD:9682754|RGD:9682765 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Microcephaly 1, primary, autosomal recessive PMID:18414213 10002854 MCPH1-AS1 MCPH1 antisense RNA 1 gene DOID:0070296 primary autosomal recessive microcephaly IAGP RGD:153300970|RGD:401866900 D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Autosomal recessive primary microcephaly 10002854 MCPH1-AS1 MCPH1 antisense RNA 1 gene DOID:0070296 primary autosomal recessive microcephaly IAGP RGD:38456520 D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Autosomal recessive primary microcephaly PMID:28492532 10002854 MCPH1-AS1 MCPH1 antisense RNA 1 gene DOID:1059 intellectual disability IAGP RGD:38597530 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Intellectual disability PMID:25741868|PMID:28492532 10002854 MCPH1-AS1 MCPH1 antisense RNA 1 gene DOID:10907 microcephaly IAGP RGD:11660314 D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Primary Microcephaly, Recessive 10002854 MCPH1-AS1 MCPH1 antisense RNA 1 gene DOID:630 genetic disease IAGP RGD:11608019 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:28492532 10002854 MCPH1-AS1 MCPH1 antisense RNA 1 gene DOID:630 genetic disease IAGP RGD:13810504 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:26467025 10002854 MCPH1-AS1 MCPH1 antisense RNA 1 gene DOID:630 genetic disease IAGP RGD:13834221|RGD:151830430|RGD:155982161|RGD:156360564|RGD:156366963 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:28492532 10002854 MCPH1-AS1 MCPH1 antisense RNA 1 gene DOID:630 genetic disease IAGP RGD:155984699|RGD:156143911|RGD:28867352|RGD:401892149|RGD:405670212 D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 10002854 MCPH1-AS1 MCPH1 antisense RNA 1 gene DOID:630 genetic disease IAGP RGD:9682754 D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213 10002854 MCPH1-AS1 MCPH1 antisense RNA 1 gene DOID:630 genetic disease IAGP RGD:9682773 D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|PMID:28492532 10002854 MCPH1-AS1 MCPH1 antisense RNA 1 gene DOID:9003884 Recombinant Chromosome 8 Syndrome IAGP RGD:596944336 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Recombinant 8 syndrome PMID:31690835 10002894 UBR5-DT UBR5 divergent transcript gene DOID:0111590 Cohen syndrome IAGP RGD:151863156 D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: Cohen syndrome PMID:28492532 10002948 MINCR MYC-induced long non-coding RNA gene DOID:9003884 Recombinant Chromosome 8 Syndrome IAGP RGD:596944342 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Recombinant 8 syndrome PMID:31690835 10002959 CA3-AS1 CA3 antisense RNA 1 gene DOID:0110941 autosomal recessive osteopetrosis 3 IAGP RGD:11603393|RGD:11608523|RGD:11644333|RGD:11654380|RGD:11663955|RGD:28870765 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Osteopetrosis with renal tubular acidosis 10002959 CA3-AS1 CA3 antisense RNA 1 gene DOID:0110941 autosomal recessive osteopetrosis 3 IAGP RGD:11666628|RGD:13528154 D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Osteopetrosis with renal tubular acidosis PMID:25741868 10002995 LINC01601 long intergenic non-protein coding RNA 1601 gene DOID:0060407 chromosome 18q deletion syndrome IAGP RGD:596944353 D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Monosomy 18q, deletion 18q PMID:31690835 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) 10040878 CROCC2 ciliary rootlet coiled-coil, rootletin family member 2 gene DOID:0111704 chromosome 2q37 deletion syndrome IAGP RGD:152981018 D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome PMID:25741868 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 20200107 ClinVar ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency PMID:25736335|PMID:28492532 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: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 20180126 ClinVar ClinVar Annotator: match by term: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY PMID:25736335 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: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 20240709 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 97 PMID:25741868|PMID:28492532 10041261 CV186069 NM_000245.4(MET):c.3509G>A (p.Arg1170Gln) variant DOID:4450 renal cell carcinoma IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma PMID:25741868|PMID:28492532 10041261 CV186069 NM_000245.4(MET):c.3509G>A (p.Arg1170Gln) 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 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 20240312 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 97 PMID:25741868|PMID:28492532|PMID:29641532|PMID:35264596 10041273 CV186059 NM_000245.4(MET):c.40C>T (p.Leu14Phe) variant DOID:4450 renal cell carcinoma IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma PMID:25741868|PMID:28492532|PMID:29641532|PMID:35264596 10041273 CV186059 NM_000245.4(MET):c.40C>T (p.Leu14Phe) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:25741868|PMID:28492532|PMID:29641532|PMID:35264596 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 20240403 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X PMID:10521546|PMID:28492532 10041279 CV186290 NM_000166.6(GJB1):c.116C>T (p.Ala39Val) variant DOID:10595 Charcot-Marie-Tooth disease IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:10521546|PMID:28492532 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 20240507 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 10041288 CV185966 NM_014946.4(SPAST):c.1291C>T (p.Arg431Ter) variant DOID:2476 hereditary spastic paraplegia IAGP D RGD:8554872 20240507 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 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 20240806 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 PMID:25741868|PMID:26392352|PMID:26467025|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 20240806 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 4H PMID:25741868|PMID:26392352|PMID:26467025|PMID:28492532 10041291 CV186163 NM_001370298.3(FGD4):c.1777C>A (p.Pro593Thr) variant DOID:10595 Charcot-Marie-Tooth disease IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease PMID:25741868|PMID:26392352|PMID:26467025|PMID:28492532 10041291 CV186163 NM_001370298.3(FGD4):c.1777C>A (p.Pro593Thr) variant DOID:630 genetic disease IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:25741868|PMID:26392352|PMID:26467025|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 20210511 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma PMID:28492532 10041297 CV186065 NM_000245.4(MET):c.2363T>C (p.Val788Ala) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20200407 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome 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 20230912 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma PMID:25741868|PMID:28492532|PMID:30093976 10041309 CV186071 NM_000245.4(MET):c.4144C>T (p.Arg1382Ter) 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|PMID:30093976 10041310 CV186226 NM_032444.4(SLX4):c.2153T>G (p.Ile718Ser) variant DOID:13636 Fanconi anemia IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Fanconi's anemia PMID:28492532 10041311 CV186286 NM_030578.4(B9D2):c.156_163del (p.Asp53fs) variant DOID:0110980 Joubert syndrome 1 IAGP D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis 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 20200609 ClinVar ClinVar Annotator: match by term: Fanconi anemia, complementation group P PMID:28492532 10041313 CV186225 NM_032444.4(SLX4):c.3367T>C (p.Ser1123Pro) variant DOID:13636 Fanconi anemia IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Fanconi anemia 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 20240312 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:28492532|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 20240312 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:28492532|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 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 20230808 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 10041327 CV186265 NM_058216.3(RAD51C):c.492T>G (p.Phe164Leu) 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:25085752|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28528518|PMID:30256826|PMID:31206626|PMID:31921681|PMID:33471991 10041327 CV186265 NM_058216.3(RAD51C):c.492T>G (p.Phe164Leu) 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:28492532|PMID:28528518|PMID:30256826|PMID:31206626|PMID:31921681|PMID:33471991 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:0110135 Bardet-Biedl syndrome 13 IAGP D RGD:8554872 20180911 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 13 PMID:28492532 10041333 CV186263 NM_017777.4(MKS1):c.233T>G (p.Ile78Ser) variant DOID:0110980 Joubert syndrome 1 IAGP D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis 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 20241112 ClinVar ClinVar Annotator: match by term: Renal cell carcinoma PMID:28492532 10041335 CV186064 NM_000245.4(MET):c.2198C>T (p.Thr733Ile) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:28492532 10041336 CV186191 NM_015346.4(ZFYVE26):c.7055C>T (p.Thr2352Ile) variant DOID:0110768 hereditary spastic paraplegia 15 IAGP D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Hereditary spastic paraplegia 15 PMID:25741868|PMID:26467025|PMID:28492532 10041336 CV186191 NM_015346.4(ZFYVE26):c.7055C>T (p.Thr2352Ile) 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 10041336 CV186191 NM_015346.4(ZFYVE26):c.7055C>T (p.Thr2352Ile) variant DOID:607 paraplegia IAGP D RGD:8554872 20210209 ClinVar ClinVar Annotator: match by term: Spastic paraplegia PMID:25741868|PMID:26467025|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 20230411 ClinVar ClinVar Annotator: match by term: Fanconi anemia complementation group C PMID:25741868|PMID:28492532 10041338 CV186097 NM_000136.3(FANCC):c.626G>A (p.Arg209His) variant DOID:13636 Fanconi anemia IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Fanconi anemia PMID:25741868|PMID:28492532 10041338 CV186097 NM_000136.3(FANCC):c.626G>A (p.Arg209His) 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 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: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 20210706 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:25741868|PMID:26467025|PMID:28492532 10041348 CV186165 NM_001370298.3(FGD4):c.2560G>A (p.Val854Met) variant DOID:0110192 Charcot-Marie-Tooth disease type 4H IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 4H PMID:25741868|PMID:26467025|PMID:28492532 10041348 CV186165 NM_001370298.3(FGD4):c.2560G>A (p.Val854Met) 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 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 20200707 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 PMID:25741868|PMID:26467025|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 20200707 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 4H PMID:25741868|PMID:26467025|PMID:28492532 10041358 CV186164 NM_001370298.3(FGD4):c.2122C>A (p.Pro708Thr) 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 10041358 CV186164 NM_001370298.3(FGD4):c.2122C>A (p.Pro708Thr) 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 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 20240109 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 20240109 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 20210608 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:12501223|PMID:16085442|PMID:19862842|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: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 20180126 ClinVar ClinVar Annotator: match by term: Alkaptonuria PMID:19862842 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 20220607 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 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 20210608 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 10041386 CV186627 NM_000098.3(CPT2):c.1369A>T (p.Lys457Ter) 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:16781677|PMID:16996287|PMID:24517888|PMID:25741868|PMID:28492532|PMID:30094188|PMID:33123633 10041386 CV186627 NM_000098.3(CPT2):c.1369A>T (p.Lys457Ter) 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:16781677|PMID:16996287|PMID:24517888|PMID:25741868|PMID:28492532|PMID:30094188|PMID:33123633 10041386 CV186627 NM_000098.3(CPT2):c.1369A>T (p.Lys457Ter) variant DOID:9007668 Carnitine Palmitoyltransferase II Deficiency, Infantile IAGP D RGD:8554872 20210608 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 10041386 CV186627 NM_000098.3(CPT2):c.1369A>T (p.Lys457Ter) variant DOID:936 brain disease IAGP D RGD:8554872 20220510 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 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 20220906 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 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 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:0050817 Stargardt disease IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: STGD PMID:15657609|PMID:16199547|PMID:25616768|PMID:25741868|PMID:28492532|PMID:28795510 10041403 CV186769 NM_019098.5(CNGB3):c.644-1G>C variant DOID:0110008 achromatopsia 3 IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Achromatopsia 3 PMID:15657609|PMID:16199547|PMID:25616768|PMID:25741868|PMID:28492532|PMID:28795510 10041403 CV186769 NM_019098.5(CNGB3):c.644-1G>C variant DOID:10584 retinitis pigmentosa IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Tapetoretinal degeneration PMID:15657609|PMID:16199547|PMID:25616768|PMID:25741868|PMID:28492532|PMID:28795510 10041403 CV186769 NM_019098.5(CNGB3):c.644-1G>C variant DOID:13911 achromatopsia IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Achromatopsia PMID:15657609|PMID:16199547|PMID:25616768|PMID:25741868|PMID:28492532|PMID:28795510 10041403 CV186769 NM_019098.5(CNGB3):c.644-1G>C variant DOID:9003656 Achromatopsia 1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Rod monochromatism PMID:15657609|PMID:16199547|PMID:25616768|PMID:25741868|PMID:28492532|PMID:28795510 10041403 CV186769 NM_019098.5(CNGB3):c.644-1G>C variant DOID:9006630 Stargardt Disease 1 IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: MACULAR DYSTROPHY WITH FLECKS, TYPE 1 PMID:15657609|PMID:16199547|PMID:25616768|PMID:25741868|PMID:28492532|PMID:28795510 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 20230214 ClinVar ClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of Herlitz PMID:11907499|PMID:15373767|PMID:16473856|PMID:17916201|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 20240109 ClinVar ClinVar Annotator: match by term: GNE myopathy PMID:20059379|PMID:25741868 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: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 10041413 CV186890 NM_000053.4(ATP7B):c.3007G>A (p.Ala1003Thr) variant DOID:9001793 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 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: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:9005129 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: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 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 20240403 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 2 PMID:10330339|PMID:10477428|PMID:11589013|PMID:21990111|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: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:9005129 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: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:10584 retinitis pigmentosa IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Retinitis pigmentosa 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:9004035 Segawa Syndrome, Autosomal Recessive 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: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 20180126 ClinVar ClinVar Annotator: match by term: Primary hyperoxaluria, type I PMID:15110324 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 20250107 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: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 20250107 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: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: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:9005129 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: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: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 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: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 10041482 CV186819 NM_000352.6(ABCC8):c.1678G>A (p.Val560Met) variant DOID:9005129 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 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: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: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: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 20231010 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: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 20230214 ClinVar ClinVar Annotator: match by term: PMM2-congenital disorder of glycosylation PMID:12626389|PMID:18948042|PMID:22223895|PMID:22814378|PMID:23430838|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 20180126 ClinVar ClinVar Annotator: match by term: Glycogen storage disease type III PMID:18617770|PMID:19754354 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: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 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 20250107 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 10041538 CV186764 NM_019098.5(CNGB3):c.1578+1G>A variant DOID:13911 achromatopsia IAGP D RGD:8554872 20250107 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 10041538 CV186764 NM_019098.5(CNGB3):c.1578+1G>A variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20250107 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 10041538 CV186764 NM_019098.5(CNGB3):c.1578+1G>A variant DOID:9003656 Achromatopsia 1 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Rod monochromatism 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 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 20210608 ClinVar ClinVar Annotator: match by term: Junctional epidermolysis bullosa gravis of Herlitz PMID:11023379|PMID:12813757|PMID:16473856|PMID:21801158|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 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 20240910 ClinVar ClinVar Annotator: match by term: GNE myopathy PMID:15136692|PMID:16372135|PMID:19917666|PMID:22507750|PMID:23127962|PMID:24695763|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 20200811 ClinVar ClinVar Annotator: match by term: Achromatopsia 3 PMID:15657609|PMID:28492532|PMID:28795510 10041628 CV186765 NM_019098.5(CNGB3):c.1119G>A (p.Trp373Ter) variant DOID:8501 fundus dystrophy IAGP D RGD:8554872 20200811 ClinVar ClinVar Annotator: match by term: Retinal dystrophy PMID:15657609|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 20240319 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome 10 PMID:16582908|PMID:20472660|PMID:22773737|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 20240403 ClinVar ClinVar Annotator: match by term: Bardet-Biedl syndrome PMID:16582908|PMID:20472660|PMID:22773737|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 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 20180126 ClinVar ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2u PMID:24354524 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 20230214 ClinVar ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome PMID:25658047|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 20230411 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 10041701 CV186442 NM_000059.4(BRCA2):c.811G>A (p.Gly271Arg) 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:31451522|PMID:31911673|PMID:32039725|PMID:33471991 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 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 20240507 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, ARVC PMID:24125834|PMID:25741868|PMID:27055156|PMID:28492532|PMID:29456632|PMID:29750433|PMID:30830208|PMID:30847666|PMID:32659924|PMID:33460606|PMID:37418234 10041719 CV186572 NM_001943.5(DSG2):c.593A>G (p.Tyr198Cys) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:24125834|PMID:25741868|PMID:27055156|PMID:28492532|PMID:29456632|PMID:29750433|PMID:30830208|PMID:30847666|PMID:32659924|PMID:33460606|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 20240319 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 10 PMID:24125834|PMID:25741868|PMID:27055156|PMID:28492532|PMID:29456632|PMID:29750433|PMID:30830208|PMID:30847666|PMID:32659924|PMID:33460606|PMID:37418234 10041719 CV186572 NM_001943.5(DSG2):c.593A>G (p.Tyr198Cys) variant DOID:0110458 dilated cardiomyopathy 1BB IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy 1BB PMID:24125834|PMID:25741868|PMID:27055156|PMID:28492532|PMID:29456632|PMID:29750433|PMID:30830208|PMID:30847666|PMID:32659924|PMID:33460606|PMID:37418234 10041719 CV186572 NM_001943.5(DSG2):c.593A>G (p.Tyr198Cys) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:24125834|PMID:25741868|PMID:27055156|PMID:28492532|PMID:29456632|PMID:29750433|PMID:30830208|PMID:30847666|PMID:32659924|PMID:33460606|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 20230411 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:27532257|PMID:28492532|PMID:31194698 10041726 CV186326 NM_004415.4(DSP):c.1352G>A (p.Arg451His) variant DOID:0090128 Carvajal syndrome IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma PMID:25741868|PMID:27532257|PMID:28492532|PMID:31194698 10041726 CV186326 NM_004415.4(DSP):c.1352G>A (p.Arg451His) variant DOID:0110076 arrhythmogenic right ventricular dysplasia 8 IAGP D RGD:8554872 20230411 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 8 PMID:25741868|PMID:27532257|PMID:28492532|PMID:31194698 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 20241210 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23396983|PMID:24033266|PMID:25351510|PMID:25741868|PMID:28492532|PMID:29062697|PMID:30847666 10041736 CV186336 NM_004415.4(DSP):c.5363A>G (p.Gln1788Arg) 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:23396983|PMID:24033266|PMID:25351510|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 20241210 ClinVar ClinVar Annotator: match by term: Keratosis palmoplantaris striata II PMID:23396983|PMID:24033266|PMID:25351510|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 20241210 ClinVar ClinVar Annotator: match by term: Dilated cardiomyopathy with woolly hair and keratoderma PMID:23396983|PMID:24033266|PMID:25351510|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 20241210 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 8 PMID:23396983|PMID:24033266|PMID:25351510|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 20241210 ClinVar ClinVar Annotator: match by term: Lethal acantholytic epidermolysis bullosa PMID:23396983|PMID:24033266|PMID:25351510|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 20241210 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis PMID:23396983|PMID:24033266|PMID:25351510|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 20200512 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type II 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 20221206 ClinVar ClinVar Annotator: match by term: Cardiomegalia glycogenica diffusa PMID:28492532 10041746 CV186557 NM_000152.5(GAA):c.1375G>A (p.Asp459Asn) variant DOID:2752 glycogen storage disease II IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: Glycogen storage disease, type II PMID:18458862|PMID:21484825|PMID:21757382|PMID:25741868|PMID:25741875|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 20240403 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 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 20241008 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 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 20230214 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:25741868|PMID:27532257|PMID:28492532|PMID:33782553 10041775 CV186412 NM_000256.3(MYBPC3):c.188G>A (p.Arg63Gln) variant DOID:0081158 dilated cardiomyopathy 1MM IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Left ventricular noncompaction 10 PMID:25741868|PMID:27532257|PMID:28492532|PMID:33782553 10041775 CV186412 NM_000256.3(MYBPC3):c.188G>A (p.Arg63Gln) variant DOID:0110310 hypertrophic cardiomyopathy 4 IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4 PMID:25741868|PMID:27532257|PMID:28492532|PMID:33782553 10041775 CV186412 NM_000256.3(MYBPC3):c.188G>A (p.Arg63Gln) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:27532257|PMID:28492532|PMID:33782553 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 20240507 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:24440382|PMID:25741868|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 20240507 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:24440382|PMID:25741868|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 20240507 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:15519027|PMID:20031602|PMID:20031618|PMID:20624503|PMID:25741868|PMID:26914223|PMID:28492532 10041785 CV186400 NM_000256.3(MYBPC3):c.676_701dup (p.Gly235fs) 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 NM_000256.3(MYBPC3):c.676_701dup (p.Gly235fs) 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:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20200908 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:27532257|PMID:28492532 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 20240507 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868|PMID:28492532|PMID:32841044|PMID:33495597 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 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 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 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:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:23861362|PMID:28492532|PMID:30731207 10041919 CV186580 NM_000363.5(TNNI3):c.339C>T (p.Asp113=) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868 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: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 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 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 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 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 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 20240507 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:25741868 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 20240403 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:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 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:9002714 Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE 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:9004409 Abderhalden-Kaufmann-Lignac Syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Abderhalden-Kaufmann-Lignac syndrome 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 20230110 ClinVar ClinVar Annotator: match by term: Cystinosis, benign, nonnephropathic 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:630 genetic disease IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:12204010|PMID:25741868|PMID:27102039|PMID:28492532|PMID:9537412 10041999 CV186972 NM_004937.3(CTNS):c.292dup (p.Thr98fs) variant DOID:9002714 Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE PMID:12204010|PMID:25741868|PMID:27102039|PMID:28492532|PMID:9537412 10041999 CV186972 NM_004937.3(CTNS):c.292dup (p.Thr98fs) variant DOID:9004409 Abderhalden-Kaufmann-Lignac Syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Abderhalden-Kaufmann-Lignac syndrome 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 20240403 ClinVar ClinVar Annotator: match by term: Cystinosis, benign, nonnephropathic 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 20220719 ClinVar ClinVar Annotator: match by term: Cystinosis, benign, nonnephropathic 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:630 genetic disease IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases 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:9002714 Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type IAGP D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE 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:9004409 Abderhalden-Kaufmann-Lignac Syndrome IAGP D RGD:8554872 20210810 ClinVar ClinVar Annotator: match by term: Abderhalden-Kaufmann-Lignac syndrome 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 20210810 ClinVar ClinVar Annotator: match by term: Cystinosis, benign, nonnephropathic 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 20180126 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 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:9002571 Aicardi-Goutieres Syndrome 7 IAGP D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 7 PMID:21070929|PMID:25620204|PMID:25741868|PMID:28319323|PMID:28475458|PMID:28492532|PMID:35754802 10042027 CV187227 NM_022168.4(IFIH1):c.2465G>A (p.Arg822Gln) variant DOID:9003885 Singleton-Merten Syndrome 1 IAGP D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Singleton-Merten syndrome 1 PMID:21070929|PMID:25620204|PMID:25741868|PMID:28319323|PMID:28475458|PMID:28492532|PMID:35754802 10042028 CV187228 NM_014822.4(SEC24D):c.3044C>T (p.Ser1015Phe) variant DOID:9004736 Cole-Carpenter Syndrome 2 IAGP D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Cole-Carpenter syndrome 2 PMID:25683121|PMID:25741868 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:0060980 polycystic liver disease 1 IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver 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 10042045 CV186055 NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) variant DOID:9005318 Isolated Caroli Disease IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Cystic dilatation of the intrahepatic biliary tree 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 20240319 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:33471991 10042057 CV186452 NM_000059.4(BRCA2):c.7008-1G>A variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20240319 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: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 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:0060980 polycystic liver disease 1 IAGP D RGD:8554872 20220510 ClinVar ClinVar Annotator: match by term: Isolated autosomal dominant 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:0080322 polycystic kidney disease IAGP D RGD:8554872 20190906 ClinVar ClinVar Annotator: match by term: Polycystic kidneys 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:0060980 polycystic liver disease 1 IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease 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 20221206 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:11555625|PMID:11793442|PMID:12810663|PMID:16083711|PMID:17510385|PMID:21120944|PMID:25741868|PMID:28492532|PMID:31742824|PMID:8776590 10042094 CV186014 NM_000249.4(MLH1):c.319A>G (p.Ile107Val) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:11555625|PMID:11793442|PMID:12810663|PMID:16083711|PMID:17510385|PMID:21120944|PMID:25741868|PMID:28492532|PMID:31742824|PMID:8776590 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 20210706 ClinVar ClinVar Annotator: match by term: Hereditary diffuse gastric cancer PMID:25741868|PMID:27498913|PMID:28492532|PMID:30287823 10042099 CV186230 NM_004360.5(CDH1):c.1679C>T (p.Thr560Met) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20210706 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:27498913|PMID:28492532|PMID:30287823 10042099 CV186230 NM_004360.5(CDH1):c.1679C>T (p.Thr560Met) variant DOID:9008952 Breast Cancer, Familial IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Breast cancer, familial PMID:25741868|PMID:27498913|PMID:28492532|PMID:30287823 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 20240312 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:25741868|PMID:28492532|PMID:33471991 10042110 CV186138 NM_000051.4(ATM):c.928A>G (p.Ser310Gly) 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:33471991 10042110 CV186138 NM_000051.4(ATM):c.928A>G (p.Ser310Gly) variant DOID:9008952 Breast Cancer, Familial IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868|PMID:28492532|PMID:33471991 10042111 CV186015 NM_000249.4(MLH1):c.1359G>C (p.Lys453Asn) variant DOID:0070274 hereditary nonpolyposis colorectal cancer type 2 IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 2 PMID:23047549|PMID:25741868|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 20240312 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:23047549|PMID:25741868|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 20240312 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:23047549|PMID:25741868|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: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 20240319 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1 PMID:18383312|PMID:22006311|PMID:25741868|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 20240319 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:18383312|PMID:22006311|PMID:25741868|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 20240319 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:18383312|PMID:22006311|PMID:25741868|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 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 20200211 ClinVar ClinVar Annotator: match by term: Lynch syndrome I PMID:25420488|PMID:25741868|PMID:26467025|PMID:27974047|PMID:28492532 10042124 CV185974 NM_000251.3(MSH2):c.67T>C (p.Phe23Leu) variant DOID:1612 breast cancer IAGP D RGD:8554872 20210511 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:25420488|PMID:25741868|PMID:26467025|PMID:27974047|PMID:28492532 10042124 CV185974 NM_000251.3(MSH2):c.67T>C (p.Phe23Leu) variant DOID:3883 Lynch syndrome IAGP D RGD:8554872 20201027 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:25420488|PMID:25741868|PMID:26467025|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 20240403 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer PMID:25420488|PMID:25741868|PMID:26467025|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 20190611 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25420488|PMID:25741868|PMID:26467025|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 20231212 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:21285249|PMID:22241545|PMID:25741868|PMID:28492532 10042127 CV186213 NM_024675.4(PALB2):c.2835-1G>A variant DOID:9008952 Breast Cancer, Familial IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:21285249|PMID:22241545|PMID:25741868|PMID:28492532 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 20220510 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:25741868|PMID:28492532 10042132 CV186139 NM_000051.4(ATM):c.1358C>T (p.Pro453Leu) 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 10042132 CV186139 NM_000051.4(ATM):c.1358C>T (p.Pro453Leu) 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 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 20200825 ClinVar ClinVar Annotator: match by term: Hereditary diffuse gastric cancer PMID:28492532 10042146 CV186231 NM_004360.5(CDH1):c.1738A>G (p.Thr580Ala) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20200407 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:28492532 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 10042151 CV186141 NM_000051.4(ATM):c.2689T>A (p.Phe897Ile) variant DOID:12704 ataxia telangiectasia IAGP D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:25741868|PMID:28492532|PMID:28726808|PMID:28779002|PMID:29371908|PMID:34262154 10042151 CV186141 NM_000051.4(ATM):c.2689T>A (p.Phe897Ile) variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Breast and/or ovarian cancer PMID:25741868|PMID:28492532|PMID:28726808|PMID:28779002|PMID:29371908|PMID:34262154 10042151 CV186141 NM_000051.4(ATM):c.2689T>A (p.Phe897Ile) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:28492532|PMID:28726808|PMID:28779002|PMID:29371908|PMID:34262154 10042151 CV186141 NM_000051.4(ATM):c.2689T>A (p.Phe897Ile) variant DOID:9008952 Breast Cancer, Familial IAGP D RGD:8554872 20221011 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25741868|PMID:28492532|PMID:28726808|PMID:28779002|PMID:29371908|PMID:34262154 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 20220719 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:25741868|PMID:28492532|PMID:32547938 10042154 CV186079 NM_000535.7(PMS2):c.1901A>G (p.His634Arg) 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|PMID:32547938 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 10042157 CV185970 NM_002354.3(EPCAM):c.93C>G (p.Asn31Lys) variant DOID:3883 Lynch syndrome IAGP D RGD:8554872 20210907 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms 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 20230808 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 5 PMID:25085752|PMID:25224212|PMID:25741868|PMID:26467025|PMID:28492532 10042163 CV185989 NM_000179.3(MSH6):c.533G>A (p.Arg178His) variant DOID:1612 breast cancer IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:25085752|PMID:25224212|PMID:25741868|PMID:26467025|PMID:28492532 10042163 CV185989 NM_000179.3(MSH6):c.533G>A (p.Arg178His) variant DOID:2871 endometrial carcinoma IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Endometrial carcinoma PMID:25085752|PMID:25224212|PMID:25741868|PMID:26467025|PMID:28492532 10042163 CV185989 NM_000179.3(MSH6):c.533G>A (p.Arg178His) variant DOID:3883 Lynch syndrome IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:25085752|PMID:25224212|PMID:25741868|PMID:26467025|PMID:28492532 10042163 CV185989 NM_000179.3(MSH6):c.533G>A (p.Arg178His) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25085752|PMID:25224212|PMID:25741868|PMID:26467025|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:3883 Lynch syndrome IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Lynch syndrome 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 20240109 ClinVar ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 4 PMID:25741868|PMID:26689913|PMID:28492532|PMID:33471991 10042166 CV186080 NM_000535.7(PMS2):c.1828A>G (p.Lys610Glu) variant DOID:3883 Lynch syndrome IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:25741868|PMID:26689913|PMID:28492532|PMID:33471991 10042166 CV186080 NM_000535.7(PMS2):c.1828A>G (p.Lys610Glu) variant DOID:5683 hereditary breast ovarian cancer syndrome IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 PMID:25741868|PMID:26689913|PMID:28492532|PMID:33471991 10042166 CV186080 NM_000535.7(PMS2):c.1828A>G (p.Lys610Glu) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:25741868|PMID:26689913|PMID:28492532|PMID:33471991 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 20240312 ClinVar ClinVar Annotator: match by term: Lynch syndrome 1 PMID:25637381|PMID:25741868|PMID:28492532|PMID:30798936|PMID:33357406|PMID:33471991 10042172 CV185986 NM_000251.3(MSH2):c.2354A>G (p.His785Arg) variant DOID:3883 Lynch syndrome IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms PMID:25637381|PMID:25741868|PMID:28492532|PMID:30798936|PMID:33357406|PMID:33471991 10042172 CV185986 NM_000251.3(MSH2):c.2354A>G (p.His785Arg) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25637381|PMID:25741868|PMID:28492532|PMID:30798936|PMID:33357406|PMID:33471991 10042172 CV185986 NM_000251.3(MSH2):c.2354A>G (p.His785Arg) variant DOID:9256 colorectal cancer IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Colorectal cancer PMID:25637381|PMID:25741868|PMID:28492532|PMID:30798936|PMID:33357406|PMID:33471991 10042174 CV186221 NM_024675.4(PALB2):c.1241G>A (p.Arg414Gln) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:21618343|PMID:25741868|PMID:28492532|PMID:28779002|PMID:32546565 10042174 CV186221 NM_024675.4(PALB2):c.1241G>A (p.Arg414Gln) variant DOID:9008952 Breast Cancer, Familial IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:21618343|PMID:25741868|PMID:28492532|PMID:28779002|PMID:32546565 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 20221206 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:25186627|PMID:25741868|PMID:28492532|PMID:28779002|PMID:32885271 10042176 CV186143 NM_000051.4(ATM):c.3080A>G (p.His1027Arg) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25186627|PMID:25741868|PMID:28492532|PMID:28779002|PMID:32885271 10042176 CV186143 NM_000051.4(ATM):c.3080A>G (p.His1027Arg) variant DOID:9008952 Breast Cancer, Familial IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:25186627|PMID:25741868|PMID:28492532|PMID:28779002|PMID:32885271 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 20240910 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 10042179 CV186146 NM_000051.4(ATM):c.5612C>T (p.Thr1871Ile) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary PMID:25741868|PMID:25980754|PMID:26467025|PMID:28492532|PMID:28652578|PMID:29659569|PMID:30543347|PMID:30824826|PMID:31970404|PMID:33436325|PMID:33742106|PMID:36029002 10042179 CV186146 NM_000051.4(ATM):c.5612C>T (p.Thr1871Ile) variant DOID:9008952 Breast Cancer, Familial IAGP D RGD:8554872 20240910 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 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 20240319 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:16832357|PMID:19781682|PMID:20305132|PMID:25741868|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 20240319 ClinVar ClinVar Annotator: match by term: Malignant tumor of breast PMID:16832357|PMID:19781682|PMID:20305132|PMID:25741868|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 20240319 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:16832357|PMID:19781682|PMID:20305132|PMID:25741868|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 20240319 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:16832357|PMID:19781682|PMID:20305132|PMID:25741868|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 10042190 CV185971 NM_002354.3(EPCAM):c.161A>G (p.Gln54Arg) variant DOID:3883 Lynch syndrome IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Lynch syndrome PMID:28492532 10042191 CV186206 NM_024675.3(PALB2):c.3351-?_*(1_?)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 20230808 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1 PMID:15714081|PMID:24915123|PMID:25741868|PMID:26515642|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 20230808 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:15714081|PMID:24915123|PMID:25741868|PMID:26515642|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 20240312 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 10042195 CV186212 NM_024675.4(PALB2):c.2896A>G (p.Ile966Val) 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, 5 PMID:21618343|PMID:25741868|PMID:28492532|PMID:31586400|PMID:32546565|PMID:32658311|PMID:33471991|PMID:35089076 10042195 CV186212 NM_024675.4(PALB2):c.2896A>G (p.Ile966Val) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20240312 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 10042195 CV186212 NM_024675.4(PALB2):c.2896A>G (p.Ile966Val) variant DOID:9008952 Breast Cancer, Familial IAGP D RGD:8554872 20240312 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 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: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 10042201 CV186665 NM_000182.5(HADHA):c.1967del (p.Ile655_Leu656insTer) variant DOID:9002882 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 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 20230214 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:15390180|PMID:17576681|PMID:28492532|PMID:9536098 10042208 CV186803 NM_000051.4(ATM):c.7927+5del variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:15390180|PMID:17576681|PMID:28492532|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 20230214 ClinVar ClinVar Annotator: match by term: Metachromatic leukodystrophy PMID:12809638|PMID:14517960|PMID:19021637|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 20240312 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:12815592|PMID:15039971|PMID:21445571|PMID:21965147|PMID:23807571|PMID:25614872|PMID:25741868|PMID:26681312|PMID:26896183|PMID:27664052|PMID:27913932|PMID:28492532|PMID:30549301|PMID:30607632|PMID:36329109|PMID:8789452|PMID:9463314 10042234 CV186797 NM_000051.4(ATM):c.640del (p.Ser214fs) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20240312 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:26681312|PMID:26896183|PMID:27664052|PMID:27913932|PMID:28492532|PMID:30549301|PMID:30607632|PMID:36329109|PMID:8789452|PMID:9463314 10042234 CV186797 NM_000051.4(ATM):c.640del (p.Ser214fs) variant DOID:9008952 Breast Cancer, Familial IAGP D RGD:8554872 20240312 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:26681312|PMID:26896183|PMID:27664052|PMID:27913932|PMID:28492532|PMID:30549301|PMID:30607632|PMID:36329109|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: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 20210608 ClinVar ClinVar Annotator: match by term: Isovaleryl-CoA dehydrogenase deficiency PMID:10677295|PMID:110677295|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 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: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 10042245 CV186666 NM_000182.5(HADHA):c.1793_1794del (p.His598fs) variant DOID:9002882 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 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: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 10042249 CV186667 NM_000182.5(HADHA):c.703C>T (p.Arg235Trp) variant DOID:9002882 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 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 20230510 ClinVar ClinVar Annotator: match by term: Gastric cancer PMID:10425038|PMID:12673797|PMID:12815592|PMID:16266405|PMID:21445571|PMID:21792198|PMID:22213089|PMID:23566627|PMID:23807571|PMID:25525159|PMID:25614872|PMID:25741868|PMID:27664052|PMID:28492532|PMID:28497333|PMID:36988593 10042261 CV186800 NM_000051.4(ATM):c.5188C>T (p.Arg1730Ter) variant DOID:12704 ataxia telangiectasia IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome PMID:10425038|PMID:12673797|PMID:12815592|PMID:16266405|PMID:21445571|PMID:21792198|PMID:22213089|PMID:23566627|PMID:23807571|PMID:25525159|PMID:25614872|PMID:25741868|PMID:27664052|PMID:28492532|PMID:28497333|PMID:36988593 10042261 CV186800 NM_000051.4(ATM):c.5188C>T (p.Arg1730Ter) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20230509 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10425038|PMID:12673797|PMID:12815592|PMID:16266405|PMID:21445571|PMID:21792198|PMID:22213089|PMID:23566627|PMID:23807571|PMID:25525159|PMID:25614872|PMID:25741868|PMID:27664052|PMID:28492532|PMID:28497333|PMID:36988593 10042261 CV186800 NM_000051.4(ATM):c.5188C>T (p.Arg1730Ter) variant DOID:9008952 Breast Cancer, Familial IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Familial cancer of breast PMID:10425038|PMID:12673797|PMID:12815592|PMID:16266405|PMID:21445571|PMID:21792198|PMID:22213089|PMID:23566627|PMID:23807571|PMID:25525159|PMID:25614872|PMID:25741868|PMID:27664052|PMID:28492532|PMID:28497333|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 20240109 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 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: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 10042267 CV186664 NM_000182.5(HADHA):c.1981_1999del (p.Leu661fs) variant DOID:9002882 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 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 20220510 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:8845835|PMID:9259193 10042269 CV186804 NM_000051.4(ATM):c.8307G>A (p.Trp2769Ter) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20220510 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:8845835|PMID:9259193 10042269 CV186804 NM_000051.4(ATM):c.8307G>A (p.Trp2769Ter) variant DOID:9008952 Breast Cancer, Familial IAGP D RGD:8554872 20240109 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:8845835|PMID:9259193 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 10042270 CV186668 NM_000182.5(HADHA):c.274_278del (p.Ser92fs) variant DOID:9002882 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 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 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 20240403 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: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 20240403 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct PMID:17718863|PMID:21961810|PMID:23151025|PMID:23185506|PMID:23296490|PMID:23918157|PMID:24105851|PMID:24599119|PMID:25741868|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: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:0080191 PTEN hamartoma tumor syndrome IAGP D RGD:8554872 20240709 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 Bannayan-Riley-Ruvalcaba syndrome 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 Bannayan-Riley-Ruvalcaba syndrome 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:0080191 PTEN hamartoma tumor syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome 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:0080191 PTEN hamartoma tumor syndrome IAGP D RGD:8554872 20220420 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:0080191 PTEN hamartoma tumor syndrome IAGP D RGD:8554872 20210112 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 Bannayan-Riley-Ruvalcaba syndrome 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:0080191 PTEN hamartoma tumor syndrome IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome 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:0080191 PTEN hamartoma tumor syndrome IAGP D RGD:8554872 20210810 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 10042303 CV187345 NM_000314.8(PTEN):c.284C>T (p.Pro95Leu) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20210810 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 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 Bannayan-Riley-Ruvalcaba syndrome 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:0080191 PTEN hamartoma tumor syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor 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 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:0080191 PTEN hamartoma tumor syndrome IAGP D RGD:8554872 20200211 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome 10042309 CV187359 NM_000314.8(PTEN):c.493-1G>A variant DOID:0080191 PTEN hamartoma tumor syndrome IAGP D RGD:8554872 20230509 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 Bannayan-Riley-Ruvalcaba syndrome 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:0080191 PTEN hamartoma tumor syndrome IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome 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:0060867 macrocephaly-autism syndrome IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Macrocephaly-autism syndrome PMID:22970944|PMID:25741868|PMID:28492532|PMID:29706350|PMID:29785012|PMID:34943931|PMID:35227301 10042312 CV187362 NM_000314.8(PTEN):c.512A>G (p.Gln171Arg) variant DOID:0080191 PTEN hamartoma tumor syndrome IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:22970944|PMID:25741868|PMID:28492532|PMID:29706350|PMID:29785012|PMID:34943931|PMID:35227301 10042312 CV187362 NM_000314.8(PTEN):c.512A>G (p.Gln171Arg) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:22970944|PMID:25741868|PMID:28492532|PMID:29706350|PMID:29785012|PMID:34943931|PMID:35227301 10042313 CV187364 NM_000314.8(PTEN):c.533A>G (p.Tyr178Cys) variant DOID:0080191 PTEN hamartoma tumor syndrome IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:20301661|PMID:25741868|PMID:26633542|PMID:28492532|PMID:32442409 10042314 CV187368 NM_000314.8(PTEN):c.599T>C (p.Phe200Ser) variant DOID:0050657 Bannayan-Riley-Ruvalcaba syndrome IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cowden syndrome 1 PMID:21659347|PMID:28492532 10042314 CV187368 NM_000314.8(PTEN):c.599T>C (p.Phe200Ser) variant DOID:0080191 PTEN hamartoma tumor syndrome IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:21659347|PMID:28492532 10042315 CV187370 NM_000314.8(PTEN):c.610C>G (p.Pro204Ala) variant DOID:0080191 PTEN hamartoma tumor syndrome IAGP D RGD:8554872 20240109 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:0080191 PTEN hamartoma tumor syndrome IAGP D RGD:8554872 20220607 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:0080191 PTEN hamartoma tumor syndrome IAGP D RGD:8554872 20220420 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 Bannayan-Riley-Ruvalcaba syndrome IAGP D RGD:8554872 20240109 ClinVar ClinVar Annotator: match by term: Cowden syndrome 1 PMID:10234502|PMID:11071384|PMID:11238682|PMID:28492532|PMID:9600246 10042320 CV187377 NM_000314.8(PTEN):c.801+1G>A variant DOID:0080191 PTEN hamartoma tumor syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:10234502|PMID:11071384|PMID:11238682|PMID:28492532|PMID:9600246 10042322 CV187380 NM_000314.8(PTEN):c.821G>A (p.Trp274Ter) variant DOID:0080191 PTEN hamartoma tumor syndrome IAGP D RGD:8554872 20240403 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 Bannayan-Riley-Ruvalcaba syndrome 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 Bannayan-Riley-Ruvalcaba syndrome 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:0080191 PTEN hamartoma tumor syndrome IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor 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: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:0080191 PTEN hamartoma tumor syndrome IAGP D RGD:8554872 20180501 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome 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:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome 10042331 CV187322 NM_000314.8(PTEN):c.46dup (p.Tyr16fs) variant DOID:0050657 Bannayan-Riley-Ruvalcaba syndrome 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:0080191 PTEN hamartoma tumor syndrome IAGP D RGD:8554872 20240202 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 Bannayan-Riley-Ruvalcaba syndrome 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 10042340 CV187385 NM_000314.8(PTEN):c.955dup (p.Thr319fs) variant DOID:0080191 PTEN hamartoma tumor syndrome IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome 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 Bannayan-Riley-Ruvalcaba syndrome 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:0080191 PTEN hamartoma tumor syndrome IAGP D RGD:8554872 20220420 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor 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 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.-1248dupT variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome 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 Bannayan-Riley-Ruvalcaba syndrome 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:0080191 PTEN hamartoma tumor syndrome IAGP D RGD:8554872 20210608 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor 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 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 Bannayan-Riley-Ruvalcaba syndrome 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:0080191 PTEN hamartoma tumor syndrome IAGP D RGD:8554872 20220607 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 Bannayan-Riley-Ruvalcaba syndrome 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:0080191 PTEN hamartoma tumor syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome 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 Bannayan-Riley-Ruvalcaba syndrome 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:0080191 PTEN hamartoma tumor syndrome IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome 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:0080191 PTEN hamartoma tumor syndrome IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:24778394|PMID:28492532|PMID:29625052|PMID:29706633 10042362 CV187328 NM_000314.8(PTEN):c.80-1G>C variant DOID:0080191 PTEN hamartoma tumor syndrome IAGP D RGD:8554872 20230214 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:0080191 PTEN hamartoma tumor syndrome IAGP D RGD:8554872 20220420 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:0080191 PTEN hamartoma tumor syndrome IAGP D RGD:8554872 20241210 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome 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 20241210 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome 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 Bannayan-Riley-Ruvalcaba syndrome 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:0080191 PTEN hamartoma tumor syndrome IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor 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 Bannayan-Riley-Ruvalcaba syndrome IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Cowden syndrome 1 PMID:16199547|PMID:17873119|PMID:21194675|PMID:23335809|PMID:26681312|PMID:28492532|PMID:28677221|PMID:9259288|PMID:9467011 10042372 CV187342 NM_000314.8(PTEN):c.253+1G>T variant DOID:0060867 macrocephaly-autism syndrome IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Macrocephaly-autism syndrome PMID:16199547|PMID:17873119|PMID:21194675|PMID:23335809|PMID:26681312|PMID:28492532|PMID:28677221|PMID:9259288|PMID:9467011 10042372 CV187342 NM_000314.8(PTEN):c.253+1G>T variant DOID:0080191 PTEN hamartoma tumor syndrome IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:16199547|PMID:17873119|PMID:21194675|PMID:23335809|PMID:26681312|PMID:28492532|PMID:28677221|PMID:9259288|PMID:9467011 10042372 CV187342 NM_000314.8(PTEN):c.253+1G>T variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20230808 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:16199547|PMID:17873119|PMID:21194675|PMID:23335809|PMID:26681312|PMID:28492532|PMID:28677221|PMID:9259288|PMID:9467011 10042373 CV187339 NM_000314.8(PTEN):c.206A>G (p.Asn69Ser) variant DOID:0080191 PTEN hamartoma tumor syndrome IAGP D RGD:8554872 20241210 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:0080191 PTEN hamartoma tumor syndrome IAGP D RGD:8554872 20240611 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:0080191 PTEN hamartoma tumor syndrome IAGP D RGD:8554872 20230214 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:0080191 PTEN hamartoma tumor syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:10234502|PMID:21194675|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 20230214 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:10234502|PMID:21194675|PMID:28492532|PMID:29706350|PMID:9467011 10042380 CV187353 NM_000314.8(PTEN):c.385G>A (p.Gly129Arg) variant DOID:0050657 Bannayan-Riley-Ruvalcaba syndrome 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:0080191 PTEN hamartoma tumor syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome 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 Bannayan-Riley-Ruvalcaba syndrome IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Cowden syndrome 1 PMID:10555148|PMID:10772829|PMID:11448956|PMID:11918710|PMID:16619501|PMID:21291452|PMID:21475810|PMID:21828076|PMID:22005521|PMID:25741868|PMID:26467025|PMID:26572169|PMID:26681312|PMID:27481051|PMID:28492532|PMID:33471991|PMID:9256433|PMID:9259288 10042382 CV187352 NM_000314.8(PTEN):c.367C>T (p.His123Tyr) variant DOID:0080191 PTEN hamartoma tumor syndrome IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:10555148|PMID:10772829|PMID:11448956|PMID:11918710|PMID:16619501|PMID:21291452|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 Bannayan-Riley-Ruvalcaba syndrome 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:0080191 PTEN hamartoma tumor syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome 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_000314.6(PTEN):c.-920G>A variant DOID:0080191 PTEN hamartoma tumor syndrome IAGP D RGD:8554872 20181106 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:27720647 10042388 CV187293 NM_000314.6(PTEN):c.-920G>A variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20220719 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:27720647 10042393 CV187302 NM_000314.8(PTEN):c.-837C>T variant DOID:0080191 PTEN hamartoma tumor syndrome IAGP D RGD:8554872 20240109 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 Bannayan-Riley-Ruvalcaba syndrome IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Cowden syndrome 1 PMID:10866302|PMID:17526800|PMID:17526801|PMID:18986487|PMID:19265751|PMID:20533527|PMID:21194675|PMID:22628360|PMID:23335809|PMID:24778394|PMID:25157968|PMID:25669429|PMID:25741868|PMID:28475857|PMID:28492532|PMID:28526761|PMID:29874181 10042396 CV187363 NM_000314.8(PTEN):c.517C>T (p.Arg173Cys) variant DOID:0050745 diffuse large B-cell lymphoma IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Diffuse large B cell lymphoma PMID:10866302|PMID:17526800|PMID:17526801|PMID:18986487|PMID:19265751|PMID:20533527|PMID:21194675|PMID:22628360|PMID:23335809|PMID:24778394|PMID:25157968|PMID:25669429|PMID:25741868|PMID:28475857|PMID:28492532|PMID:28526761|PMID:29874181 10042396 CV187363 NM_000314.8(PTEN):c.517C>T (p.Arg173Cys) variant DOID:0060867 macrocephaly-autism syndrome IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Macrocephaly/autism syndrome PMID:10866302|PMID:17526800|PMID:17526801|PMID:18986487|PMID:19265751|PMID:20533527|PMID:21194675|PMID:22628360|PMID:23335809|PMID:24778394|PMID:25157968|PMID:25669429|PMID:25741868|PMID:28475857|PMID:28492532|PMID:28526761|PMID:29874181 10042396 CV187363 NM_000314.8(PTEN):c.517C>T (p.Arg173Cys) variant DOID:0080191 PTEN hamartoma tumor syndrome IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:10866302|PMID:17526800|PMID:17526801|PMID:18986487|PMID:19265751|PMID:20533527|PMID:21194675|PMID:22628360|PMID:23335809|PMID:24778394|PMID:25157968|PMID:25669429|PMID:25741868|PMID:28475857|PMID:28492532|PMID:28526761|PMID:29874181 10042396 CV187363 NM_000314.8(PTEN):c.517C>T (p.Arg173Cys) variant DOID:0111766 X-linked VACTERL association IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: VACTERL-H PMID:10866302|PMID:17526800|PMID:17526801|PMID:18986487|PMID:19265751|PMID:20533527|PMID:21194675|PMID:22628360|PMID:23335809|PMID:24778394|PMID:25157968|PMID:25669429|PMID:25741868|PMID:28475857|PMID:28492532|PMID:28526761|PMID:29874181 10042396 CV187363 NM_000314.8(PTEN):c.517C>T (p.Arg173Cys) variant DOID:10283 prostate cancer IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Prostate cancer PMID:10866302|PMID:17526800|PMID:17526801|PMID:18986487|PMID:19265751|PMID:20533527|PMID:21194675|PMID:22628360|PMID:23335809|PMID:24778394|PMID:25157968|PMID:25669429|PMID:25741868|PMID:28475857|PMID:28492532|PMID:28526761|PMID:29874181 10042396 CV187363 NM_000314.8(PTEN):c.517C>T (p.Arg173Cys) variant DOID:3070 high grade glioma IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Glioma susceptibility 2 PMID:10866302|PMID:17526800|PMID:17526801|PMID:18986487|PMID:19265751|PMID:20533527|PMID:21194675|PMID:22628360|PMID:23335809|PMID:24778394|PMID:25157968|PMID:25669429|PMID:25741868|PMID:28475857|PMID:28492532|PMID:28526761|PMID:29874181 10042396 CV187363 NM_000314.8(PTEN):c.517C>T (p.Arg173Cys) variant DOID:4586 familial meningioma IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Meningioma, familial, susceptibility to PMID:10866302|PMID:17526800|PMID:17526801|PMID:18986487|PMID:19265751|PMID:20533527|PMID:21194675|PMID:22628360|PMID:23335809|PMID:24778394|PMID:25157968|PMID:25669429|PMID:25741868|PMID:28475857|PMID:28492532|PMID:28526761|PMID:29874181 10042396 CV187363 NM_000314.8(PTEN):c.517C>T (p.Arg173Cys) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Hereditary Cancer Syndrome PMID:10866302|PMID:17526800|PMID:17526801|PMID:18986487|PMID:19265751|PMID:20533527|PMID:21194675|PMID:22628360|PMID:23335809|PMID:24778394|PMID:25157968|PMID:25669429|PMID:25741868|PMID:28475857|PMID:28492532|PMID:28526761|PMID:29874181 10042397 CV187366 NM_000314.8(PTEN):c.560A>G (p.Asp187Gly) variant DOID:0080191 PTEN hamartoma tumor syndrome IAGP D RGD:8554872 20200811 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:0080191 PTEN hamartoma tumor syndrome IAGP D RGD:8554872 20240507 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:0080191 PTEN hamartoma tumor syndrome IAGP D RGD:8554872 20180501 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:28492532 10042402 CV187379 NM_000314.8(PTEN):c.802-2A>G variant DOID:0050657 Bannayan-Riley-Ruvalcaba syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Cowden syndrome 1 PMID:16199547|PMID:21194675|PMID:25741868|PMID:27477328|PMID:28013114|PMID:28492532|PMID:28677221|PMID:9467011 10042402 CV187379 NM_000314.8(PTEN):c.802-2A>G variant DOID:0080191 PTEN hamartoma tumor syndrome IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome PMID:16199547|PMID:21194675|PMID:25741868|PMID:27477328|PMID:28013114|PMID:28492532|PMID:28677221|PMID:9467011 10042402 CV187379 NM_000314.8(PTEN):c.802-2A>G variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20240507 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:9467011 10042403 CV187387 NM_000314.8(PTEN):c.1018A>C (p.Asn340His) variant DOID:0080191 PTEN hamartoma tumor syndrome IAGP D RGD:8554872 20241210 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 Bannayan-Riley-Ruvalcaba syndrome 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:0080191 PTEN hamartoma tumor syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: PTEN hamartoma tumor syndrome 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 20240507 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 10042406 CV186277 NM_000546.6(TP53):c.589G>A (p.Val197Met) variant DOID:3012 Li-Fraumeni syndrome IAGP D RGD:8554872 20240507 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 10042406 CV186277 NM_000546.6(TP53):c.589G>A (p.Val197Met) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20240507 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 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 20210119 ClinVar ClinVar Annotator: match by term: Hereditary hemochromatosis type 3 PMID:28492532 10042412 CV186058 NM_003227.4(TFR2):c.829G>T (p.Val277Leu) variant DOID:2352 hemochromatosis IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Hereditary hemochromatosis PMID:28492532 10042413 CV186272 NM_000546.6(TP53):c.1102C>T (p.His368Tyr) 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:25741868|PMID:28492532|PMID:33471991 10042413 CV186272 NM_000546.6(TP53):c.1102C>T (p.His368Tyr) variant DOID:3012 Li-Fraumeni syndrome IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Li-Fraumeni syndrome PMID:12826609|PMID:25741868|PMID:28492532|PMID:33471991 10042413 CV186272 NM_000546.6(TP53):c.1102C>T (p.His368Tyr) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:12826609|PMID:25741868|PMID:28492532|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 20230110 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2 PMID:25741868|PMID:28492532 10042416 CV186116 NM_020975.6(RET):c.548G>A (p.Gly183Asp) 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 10042416 CV186116 NM_020975.6(RET):c.548G>A (p.Gly183Asp) 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 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 20240709 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 2 PMID:11955539|PMID:15956201|PMID:16732321|PMID:25741868|PMID:28492532|PMID:8114938 10042418 CV186117 NM_020975.6(RET):c.972G>C (p.Trp324Cys) variant DOID:0050771 pheochromocytoma IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Pheochromocytoma PMID:11955539|PMID:15956201|PMID:16732321|PMID:25741868|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 20240709 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia type 2B PMID:11955539|PMID:15956201|PMID:16732321|PMID:25741868|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 20240709 ClinVar ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1 PMID:11955539|PMID:15956201|PMID:16732321|PMID:25741868|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 20240709 ClinVar ClinVar Annotator: match by term: Multiple endocrine neoplasia PMID:11955539|PMID:15956201|PMID:16732321|PMID:25741868|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 20240709 ClinVar ClinVar Annotator: match by term: Renal hypodysplasia/aplasia 1 PMID:11955539|PMID:15956201|PMID:16732321|PMID:25741868|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 20240709 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:11955539|PMID:15956201|PMID:16732321|PMID:25741868|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:9004478 Islet Cell Tumor Syndrome IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Chromaffinoma 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 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 10042474 CV187002 NM_000152.5(GAA):c.1411_1414del (p.Glu471fs) variant DOID:9001828 Cardiac Form of Generalized Glycogenosis IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Cardiomegalia glycogenica diffusa 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 20241210 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:33202836|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 10042490 CV187005 NM_000152.5(GAA):c.1548G>A (p.Trp516Ter) variant DOID:9001828 Cardiac Form of Generalized Glycogenosis IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Cardiomegalia glycogenica diffusa 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 10042497 CV186993 NM_000152.5(GAA):c.655G>A (p.Gly219Arg) variant DOID:9001828 Cardiac Form of Generalized Glycogenosis IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Cardiomegalia glycogenica diffusa 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 20231212 ClinVar ClinVar Annotator: match by term: Glutaric aciduria, type 1 PMID:10699052|PMID:11508549|PMID:19433437|PMID:25741868|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 10042504 CV187013 NM_000152.5(GAA):c.1979G>A (p.Arg660His) variant DOID:9001828 Cardiac Form of Generalized Glycogenosis IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Cardiomegalia glycogenica diffusa 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 10042506 CV186994 NM_000152.5(GAA):c.670C>T (p.Arg224Trp) variant DOID:9001828 Cardiac Form of Generalized Glycogenosis IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Cardiomegalia glycogenica diffusa 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 20210406 ClinVar ClinVar Annotator: match by term: Smith-Lemli-Opitz syndrome PMID:10602371|PMID:16044199|PMID:23042628|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 20240507 ClinVar ClinVar Annotator: match by term: Complement component 2 deficiency PMID:1577763|PMID:25454804|PMID:25741868|PMID:26038300|PMID:26590091|PMID:27943079|PMID:28492532|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:4959 epidermolysis bullosa dystrophica IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica PMID:16199547|PMID:16971478|PMID:21448560|PMID:24033266|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 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 20220816 ClinVar ClinVar Annotator: match by term: Stuve-Wiedemann syndrome PMID:14740318|PMID:24033266|PMID:24988918|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:0110277 autosomal recessive limb-girdle muscular dystrophy type 2C IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Severe autosomal recessive muscular dystrophy of childhood - North African type 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 20180126 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 3 PMID:24033266 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:0110980 Joubert syndrome 1 IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis 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 20241008 ClinVar ClinVar Annotator: match by term: Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome PMID:20018682|PMID:23320496|PMID:24033266|PMID:24194475|PMID:24424126|PMID:25627829 10042534 CV187105 NM_019026.6(TMCO1):c.87_90del (p.Val30fs) variant DOID:0111962 combined immunodeficiency IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Combined immunodeficiency PMID:20018682|PMID:23320496|PMID:24033266|PMID:24194475|PMID:24424126|PMID:25627829 10042534 CV187105 NM_019026.6(TMCO1):c.87_90del (p.Val30fs) variant DOID:628 combined T cell and B cell immunodeficiency IAGP D RGD:8554872 20241008 ClinVar ClinVar Annotator: match by term: Combined T and B cell immunodeficiency PMID:20018682|PMID:23320496|PMID:24033266|PMID:24194475|PMID:24424126|PMID:25627829 10042536 CV187108 NM_206933.4(USH2A):c.1214del (p.Asn405fs) variant DOID:0110360 retinitis pigmentosa 39 IAGP D RGD:8554872 20240910 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 20240910 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 20240910 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:0080191 PTEN hamartoma tumor syndrome IAGP D RGD:8554872 20240202 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:0080191 PTEN hamartoma tumor syndrome IAGP D RGD:8554872 20241210 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:9008979 Rett Syndrome, Congenital Variant 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:9008979 Rett Syndrome, Congenital Variant 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:9008979 Rett Syndrome, Congenital Variant 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:9008979 Rett Syndrome, Congenital Variant 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: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 10042551 CV187401 NM_005249.5(FOXG1):c.256del (p.Gln86fs) variant DOID:9008979 Rett Syndrome, Congenital Variant 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 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 10042552 CV187402 NM_005249.5(FOXG1):c.256dup (p.Gln86fs) variant DOID:9008979 Rett Syndrome, Congenital Variant 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 10042554 CV187404 NM_005249.5(FOXG1):c.552dup (p.Ser185fs) variant DOID:9008979 Rett Syndrome, Congenital Variant 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: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 10042555 CV187405 NM_005249.5(FOXG1):c.577G>A (p.Ala193Thr) variant DOID:9008979 Rett Syndrome, Congenital Variant 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 10042556 CV187406 NM_005249.5(FOXG1):c.610C>T (p.Leu204Phe) variant DOID:9008979 Rett Syndrome, Congenital Variant 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:9008979 Rett Syndrome, Congenital Variant 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:9008979 Rett Syndrome, Congenital Variant 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:9008979 Rett Syndrome, Congenital Variant 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:9008979 Rett Syndrome, Congenital Variant 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:9008979 Rett Syndrome, Congenital Variant 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:9008979 Rett Syndrome, Congenital Variant 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 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 20240709 ClinVar ClinVar Annotator: match by term: Gorlin syndrome PMID:25741868|PMID:28492532 10042593 CV186109 NM_000264.5(PTCH1):c.1942C>G (p.His648Asp) variant DOID:2513 basal cell carcinoma IAGP D RGD:8554872 20240709 ClinVar ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 PMID:25741868|PMID:28492532 10042593 CV186109 NM_000264.5(PTCH1):c.1942C>G (p.His648Asp) 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 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 10042598 CV186100 NM_000264.5(PTCH1):c.4001G>A (p.Ser1334Asn) variant DOID:9007729 Multiple Basal Cell Carcinoma IAGP D RGD:8554872 20231212 ClinVar ClinVar Annotator: match by term: Basal cell carcinoma, multiple 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 20190409 ClinVar ClinVar Annotator: match by term: Gorlin syndrome PMID:25741868|PMID:28492532 10042601 CV186108 NM_000264.5(PTCH1):c.2440A>C (p.Asn814His) variant DOID:2513 basal cell carcinoma IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: BCC1 PMID:25741868|PMID:28492532 10042601 CV186108 NM_000264.5(PTCH1):c.2440A>C (p.Asn814His) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20200407 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|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 10042602 CV186113 NM_000264.5(PTCH1):c.37C>G (p.Arg13Gly) variant DOID:9007729 Multiple Basal Cell Carcinoma IAGP D RGD:8554872 20240409 ClinVar ClinVar Annotator: match by term: Basal cell carcinoma, multiple 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:0111683 neurofibromatosis-Noonan syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Neurofibromatosis-Noonan 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 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 20240507 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:16199547|PMID:17105751|PMID:20400443|PMID:20716751|PMID:20857253|PMID:21859740|PMID:2569966|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 20240507 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:16199547|PMID:17105751|PMID:20400443|PMID:20716751|PMID:20857253|PMID:21859740|PMID:2569966|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 20240507 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 PMID:16199547|PMID:17105751|PMID:20400443|PMID:20716751|PMID:20857253|PMID:21859740|PMID:2569966|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 20240507 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 10 PMID:16199547|PMID:17105751|PMID:20400443|PMID:20716751|PMID:20857253|PMID:21859740|PMID:2569966|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 20250107 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia PMID:15489853|PMID:17010805|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:34120153|PMID:34135346 10042635 CV186429 NM_001005242.3(PKP2):c.253_256del (p.Glu85fs) variant DOID:0050700 cardiomyopathy IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Cardiomyopathies PMID:15489853|PMID:17010805|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:34120153|PMID:34135346 10042635 CV186429 NM_001005242.3(PKP2):c.253_256del (p.Glu85fs) variant DOID:0110077 arrhythmogenic right ventricular dysplasia 9 IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 PMID:15489853|PMID:17010805|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:34120153|PMID:34135346 10042635 CV186429 NM_001005242.3(PKP2):c.253_256del (p.Glu85fs) variant DOID:9007820 Sudden Death IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Sudden unexplained death PMID:15489853|PMID:17010805|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:34120153|PMID:34135346 10042636 CV186427 NM_001005242.3(PKP2):c.337-2A>T variant DOID:0050431 arrhythmogenic right ventricular cardiomyopathy IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia PMID:15489853|PMID:16199547|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 20240910 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 PMID:15489853|PMID:16199547|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 20230214 ClinVar ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 9 PMID:15489853|PMID:23812740|PMID:23911551|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 NM_004992.3(MECP2):c.(?_1169)_*(1_?)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 20180126 ClinVar ClinVar Annotator: match by term: Rett's disorder PMID:16473305 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: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 NM_004992.3(MECP2):c.(?_1336)_*(1_?)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 NM_004992.3(MECP2):c.(?_378)_*(1_?)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 20180126 ClinVar ClinVar Annotator: match by term: Rett's disorder PMID:16630165 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 20180126 ClinVar ClinVar Annotator: match by term: Rett's disorder PMID:21954873 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 20200107 ClinVar ClinVar Annotator: match by term: Robinow syndrome, autosomal dominant 1 PMID:24716670 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 20250107 ClinVar ClinVar Annotator: match by term: Leber congenital amaurosis 12 PMID:22531706 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 20240507 ClinVar ClinVar Annotator: match by term: POLYPOSIS, ADENOMATOUS INTESTINAL PMID:18199528|PMID:25741868|PMID:25815427|PMID:26178707|PMID:26467025|PMID:28492532|PMID:29141224|PMID:31552911|PMID:32070411 10042798 CV186037 NM_000038.6(APC):c.4765C>T (p.Arg1589Cys) variant DOID:0080409 familial adenomatous polyposis 1 IAGP D RGD:8554872 20210810 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 10042798 CV186037 NM_000038.6(APC):c.4765C>T (p.Arg1589Cys) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20210810 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 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 10042808 CV186030 NM_000038.6(APC):c.2240C>T (p.Ser747Leu) 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:29245953 10042808 CV186030 NM_000038.6(APC):c.2240C>T (p.Ser747Leu) 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:26467025|PMID:28492532|PMID:29245953 10042808 CV186030 NM_000038.6(APC):c.2240C>T (p.Ser747Leu) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20240312 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:25741868|PMID:26467025|PMID:28492532|PMID:29245953 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 20240319 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:10094547|PMID:17963004|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 20240403 ClinVar ClinVar Annotator: match by term: Familial adenomatous polyposis 1 PMID:20924072|PMID:28492532 10042813 CV186028 NM_000038.6(APC):c.1262G>A (p.Trp421Ter) variant DOID:9007071 Hereditary Neoplastic Syndromes IAGP D RGD:8554872 20240403 ClinVar ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome PMID:20924072|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:0080191 PTEN hamartoma tumor syndrome IAGP D RGD:8554872 20181106 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 Bannayan-Riley-Ruvalcaba syndrome 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 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 20250107 ClinVar ClinVar Annotator: match by term: CDKL5 disorder PMID:22867051|PMID:25434003|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 NM_003159.2(CDKL5):c.-253_-163+?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: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: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: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: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: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: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: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: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: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:9001325 Rett Syndrome, Atypical IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Atypical Rett syndrome PMID:19455595 10042885 CV187441 NM_003159.2(CDKL5):c.-253_2276+?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 NM_003159.2(CDKL5):c.-253_64+?del variant DOID:9001325 Rett Syndrome, Atypical IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Atypical Rett syndrome 10042887 CV187439 NM_003159.2(CDKL5):c.-253_825+?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 NM_003159.2(CDKL5):c.-253_977+?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 NM_003159.2(CDKL5):c.-253_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:19471977|PMID:19807736|PMID:21293276 10042889 CV187438 NM_003159.2(CDKL5):c.-253_99+?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: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: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: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: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: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: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: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: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: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: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: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: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: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:1242 globe disease IAGP D RGD:8554872 20250107 ClinVar ClinVar Annotator: match by term: Globe disease 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 20221206 ClinVar ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532|PMID:30615648 10042929 CV186288 NM_020433.5(JPH2):c.1204G>A (p.Glu402Lys) variant DOID:0081161 dilated cardiomyopathy 2E IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2E PMID:24033266|PMID:25741868|PMID:28492532|PMID:30615648 10042929 CV186288 NM_020433.5(JPH2):c.1204G>A (p.Glu402Lys) 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:30615648 10042929 CV186288 NM_020433.5(JPH2):c.1204G>A (p.Glu402Lys) variant DOID:0110323 hypertrophic cardiomyopathy 17 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 17 PMID:24033266|PMID:25741868|PMID:28492532|PMID:30615648 10042929 CV186288 NM_020433.5(JPH2):c.1204G>A (p.Glu402Lys) variant DOID:11984 hypertrophic cardiomyopathy IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Hypertrophic cardiomyopathy PMID:24033266|PMID:25741868|PMID:28492532|PMID:30615648 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:0110980 Joubert syndrome 1 IAGP D RGD:8554872 20230711 ClinVar ClinVar Annotator: match by term: Familial aplasia of the vermis 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 20241210 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 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 20241112 ClinVar ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:12112666|PMID:15964725|PMID:16300957|PMID:16380907|PMID:20234132|PMID:22567152|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 20241112 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1A PMID:12112666|PMID:15964725|PMID:16300957|PMID:16380907|PMID:20234132|PMID:22567152|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 20241210 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 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:0111737 X-linked deafness 2 IAGP D RGD:8554872 20241210 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: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 20220510 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 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 20180126 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1A PMID:16217030|PMID:16950989|PMID:18837651|PMID:19371219|PMID:22787277 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 20240507 ClinVar ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness PMID:12172394|PMID:15954104|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 20240507 ClinVar ClinVar Annotator: match by term: Bart-Pumphrey syndrome PMID:12172394|PMID:15954104|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 20240507 ClinVar ClinVar Annotator: match by term: KID syndrome, autosomal dominant PMID:12172394|PMID:15954104|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 20240507 ClinVar ClinVar Annotator: match by term: Deafness, autosomal recessive 1A PMID:12172394|PMID:15954104|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 20240507 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 3a PMID:12172394|PMID:15954104|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 20240507 ClinVar ClinVar Annotator: match by term: Keratoderma hereditarium mutilans PMID:12172394|PMID:15954104|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 20240507 ClinVar ClinVar Annotator: match by term: Palmoplantar keratoderma and sensorineural deafness PMID:12172394|PMID:15954104|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 20240507 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: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 20240507 ClinVar ClinVar Annotator: match by term: Hearing loss PMID:12172394|PMID:15954104|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 20240507 ClinVar ClinVar Annotator: match by term: Hystrix-like ichthyosis with deafness PMID:12172394|PMID:15954104|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 20230110 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 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: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: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 10042952 CV186860 NM_004004.6(GJB2):c.230G>A (p.Trp77Ter) variant DOID:0110475 autosomal recessive nonsyndromic deafness 1A IAGP D RGD:8554872 20230214 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: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 20230509 ClinVar ClinVar Annotator: match by term: Deafness, autosomal dominant 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: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 10042963 CV187696 NM_145199.3(LIPT1):c.292C>G (p.Arg98Gly) variant DOID:9008121 Lipoyltransferase 1 Deficiency IAGP D RGD:8554872 20230307 ClinVar ClinVar Annotator: match by term: Lipoyltransferase 1 deficiency PMID:17570395|PMID:24256811|PMID:28492532|PMID:34440436 10043509 TUBB8B tubulin beta 8B gene DOID:12849 autistic disorder IAGP RGD:14351797 D RGD:8554872 20190212 ClinVar ClinVar Annotator: match by term: Autism PMID:21681106|PMID:30208311 10043521 LRP1-AS LRP1 antisense RNA gene DOID:9008735 Developmental Dysplasia of the Hip 3 IAGP RGD:405026205 D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Developmental dysplasia of the hip 3 PMID:36067312 10044267 CV188042 NM_000124.3(ERCC6):c.1684_1705del variant DOID:0080908 Cockayne syndrome B IAGP D RGD:8554872 20180126 ClinVar ClinVar Annotator: match by term: Cockayne syndrome, type B PMID:18414213 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: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: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 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: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: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: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 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:0080105 microcephaly and chorioretinopathy 1 IAGP D RGD:8554872 20240806 ClinVar ClinVar Annotator: match by term: Microcephaly with chorioretinopathy, autosomal recessive PMID:24033266|PMID:25741868|PMID:25817018|PMID:28492532|PMID:35418825 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 20240403 ClinVar ClinVar Annotator: match by term: Mitochondrial myopathy with lactic acidosis 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 type 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 20240709 ClinVar ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 35 PMID:18414213|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 20240709 ClinVar ClinVar Annotator: match by term: intellectual disabilities PMID:18414213|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 20240709 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:18414213|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 20240709 ClinVar ClinVar Annotator: match by term: Global developmental delay PMID:18414213|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 20240507 ClinVar ClinVar Annotator: match by term: Hogue-Janssens syndrome 1 PMID:25533962|PMID:26168268|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 20230214 ClinVar ClinVar Annotator: match by term: Noonan syndrome 8 PMID:23791108|PMID:24469055|PMID:24939608|PMID:25741868|PMID:25959749|PMID:26446362|PMID:26714497|PMID:27101134|PMID:27109146|PMID:28492532|PMID:30732632|PMID:30872527 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 20180126 ClinVar ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 20 PMID:25439728 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 20240202 ClinVar ClinVar Annotator: match by term: Frontonasal dysplasia 2 PMID:24668755 10044357 CV188212 NM_016343.4(CENPF):c.1744G>T (p.Glu582Ter) variant DOID:0110595 Stromme syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Stromme syndrome PMID:25564561|PMID:25741868|PMID:26820108 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 20230110 ClinVar ClinVar Annotator: match by term: Stromme syndrome PMID:25564561|PMID:25741868 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 20200512 ClinVar ClinVar Annotator: match by term: Multiple gastrointestinal atresias PMID:23830146|PMID:25587526|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 20230214 ClinVar ClinVar Annotator: match by term: Multiple gastrointestinal atresias PMID:23830146|PMID:24292712|PMID:24417819|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 20240507 ClinVar ClinVar Annotator: match by term: Mitochondrial complex IV deficiency, nuclear type 1 PMID:25604084 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) AND Combined deficiency of sialidase 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) AND Combined deficiency of sialidase 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 Sly syndrome 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 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 10044461 CV188434 NM_005751.5(AKAP9):c.510G>C (p.Glu170Asp) variant DOID:9007215 Familial Ventricular Tachycardia IAGP D RGD:8554872 20201208 ClinVar ClinVar Annotator: match by term: Familial polymorphic ventricular tachycardia 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 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 20201110 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25650408|PMID:28492532 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 20221206 ClinVar ClinVar Annotator: match by term: ANKYRIN-B SYNDROME PMID:23861362|PMID:25741868|PMID:27871843|PMID:28492532 10044494 CV188401 NM_001148.6(ANK2):c.11119G>A (p.Asp3707Asn) 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:27871843|PMID:28492532 10044494 CV188401 NM_001148.6(ANK2):c.11119G>A (p.Asp3707Asn) variant DOID:9000006 Supraventricular Tachycardia IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Supraventricular tachycardia PMID:23861362|PMID:25741868|PMID:27871843|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:0060674 catecholaminergic polymorphic ventricular tachycardia IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia PMID:28191889|PMID:28492532|PMID:33004838 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:0111700 ankyrin-B-related cardiac arrhythmia IAGP D RGD:8554872 20240507 ClinVar ClinVar Annotator: match by term: ANKYRIN-B SYNDROME PMID:17161064|PMID:23861362|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 20240507 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:17161064|PMID:23861362|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 20230110 ClinVar ClinVar Annotator: match by term: Cardiac arrhythmia, ankyrin-B-related PMID:25741868 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 20241112 ClinVar ClinVar Annotator: match by term: CACNA1C-related disorder PMID:23861362|PMID:28492532 10044520 CV188595 NM_000719.7(CACNA1C):c.3946-12G>A variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20241112 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:23861362|PMID:28492532 10044521 CV188609 NM_000719.7(CACNA1C):c.5119G>A (p.Val1707Ile) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:28492532 10044522 CV188610 NM_000719.7(CACNA1C):c.5120T>C (p.Val1707Ala) variant DOID:0060173 Timothy syndrome IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Timothy syndrome PMID:25741868|PMID:26383259|PMID:28492532 10044522 CV188610 NM_000719.7(CACNA1C):c.5120T>C (p.Val1707Ala) variant DOID:0110220 Brugada syndrome 3 IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Brugada syndrome 3 PMID:25741868|PMID:26383259|PMID:28492532 10044522 CV188610 NM_000719.7(CACNA1C):c.5120T>C (p.Val1707Ala) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20221206 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:26383259|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:2843 long QT syndrome IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Long QT syndrome 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 20220607 ClinVar ClinVar Annotator: match by term: Wolff-Parkinson-White pattern 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 20230510 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 20240305 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 20230510 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 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 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 20230808 ClinVar ClinVar Annotator: match by term: Long QT syndrome 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 20250107 ClinVar ClinVar Annotator: match by term: Timothy syndrome PMID:28492532 10044583 CV188524 NM_000719.7(CACNA1C):c.76G>A (p.Ala26Thr) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20180612 ClinVar ClinVar Annotator: match by term: Long QT syndrome 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 20230110 ClinVar ClinVar Annotator: match by term: Timothy syndrome PMID:25741868|PMID:28492532 10044585 CV188520 NM_000719.7(CACNA1C):c.15_16del (p.Thr6fs) variant DOID:0110220 Brugada syndrome 3 IAGP D RGD:8554872 20230510 ClinVar ClinVar Annotator: match by term: Brugada syndrome 3 PMID:25741868|PMID:28492532 10044585 CV188520 NM_000719.7(CACNA1C):c.15_16del (p.Thr6fs) 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 10044585 CV188520 NM_000719.7(CACNA1C):c.15_16del (p.Thr6fs) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 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:0060674 catecholaminergic polymorphic ventricular tachycardia IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia PMID:25741868|PMID:28404607|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:0060674 catecholaminergic polymorphic ventricular tachycardia IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia PMID:25741868|PMID:28492532|PMID:31589614|PMID:32574564 10044607 CV188313 NM_001232.4(CASQ2):c.503T>C (p.Ile168Thr) 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|PMID:28492532|PMID:31589614|PMID:32574564 10044607 CV188313 NM_001232.4(CASQ2):c.503T>C (p.Ile168Thr) 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|PMID:28492532|PMID:31589614|PMID:32574564 10044608 CV188312 NM_001232.4(CASQ2):c.518G>T (p.Ser173Ile) variant DOID:0060674 catecholaminergic polymorphic ventricular tachycardia IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC PMID:25741868|PMID:28492532|PMID:32693635 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:0060674 catecholaminergic polymorphic ventricular tachycardia IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC PMID:25741868 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:0060674 catecholaminergic polymorphic ventricular tachycardia IAGP D RGD:8554872 20240910 ClinVar ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia 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:0060674 catecholaminergic polymorphic ventricular tachycardia IAGP D RGD:8554872 20240319 ClinVar ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia PMID:25741868|PMID:28492532|PMID:29766881 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:0060674 catecholaminergic polymorphic ventricular tachycardia IAGP D RGD:8554872 20231107 ClinVar ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC 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: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:0060674 catecholaminergic polymorphic ventricular tachycardia IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia PMID:25741868|PMID:28492532 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 20240312 ClinVar ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 PMID:23595086|PMID:28492532|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 20241112 ClinVar ClinVar Annotator: match by term: Brugada syndrome 8 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 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 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 20250107 ClinVar ClinVar Annotator: match by term: Short QT syndrome type 3 PMID:23440193|PMID:26197979 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 20230214 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 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 20221206 ClinVar ClinVar Annotator: match by term: Atrial septal defect-atrioventricular conduction defects syndrome PMID:12112663|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 20221206 ClinVar ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects PMID:12112663|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 20221206 ClinVar ClinVar Annotator: match by term: Atrial septal defect 7 with or without atrioventricular conduction defects PMID:19073351|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 20221206 ClinVar ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects PMID:19073351|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 20221206 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 10044679 CV188428 NM_004387.4(NKX2-5):c.65A>G (p.Gln22Arg) variant DOID:9002682 Cardiovascular Abnormalities IAGP D RGD:8554872 20221206 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 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 20221206 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 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 20200407 ClinVar ClinVar Annotator: match by term: Cardiomyopathy PMID:23257389|PMID:23861362|PMID:24033266|PMID:25741868|PMID:27435932|PMID:27711072|PMID:28492532|PMID:30662450 10044707 CV188506 NM_001040151.2(SCN3B):c.328G>A (p.Val110Ile) variant DOID:0110224 Brugada syndrome 7 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Brugada syndrome 7 PMID:23257389|PMID:23861362|PMID:24033266|PMID:25741868|PMID:27435932|PMID:27711072|PMID:28492532|PMID:30662450 10044707 CV188506 NM_001040151.2(SCN3B):c.328G>A (p.Val110Ile) variant DOID:9006030 Infant Death IAGP D RGD:8554872 20200407 ClinVar ClinVar Annotator: match by term: Death in infancy PMID:23257389|PMID:23861362|PMID:24033266|PMID:25741868|PMID:27435932|PMID:27711072|PMID:28492532|PMID:30662450 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 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 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome 12 PMID:25741868|PMID:28492532 10044731 CV188746 NM_003098.3(SNTA1):c.40G>A (p.Glu14Lys) variant DOID:2843 long QT syndrome IAGP D RGD:8554872 20230110 ClinVar ClinVar Annotator: match by term: Long QT syndrome PMID:25741868|PMID:28492532 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 20190108 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: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: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 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: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: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: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 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: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 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: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: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 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 10044780 CV188024 NM_001110556.2(FLNA):c.4060G>A (p.Asp1354Asn) variant DOID:9005190 Juberg Hayward Syndrome IAGP D RGD:8554872 20240202 ClinVar ClinVar Annotator: match by term: Cranio-oro-digital syndrome 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 10044781 CV188023 NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg) variant DOID:9005190 Juberg Hayward Syndrome IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Cranio-oro-digital syndrome 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 10044783 CV188021 NM_001110556.2(FLNA):c.4866C>T (p.Tyr1622=) variant DOID:9005190 Juberg Hayward Syndrome IAGP D RGD:8554872 20220906 ClinVar ClinVar Annotator: match by term: Cranio-oro-digital syndrome 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 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 type 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 20241210 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 5 PMID:15728307|PMID:20052765|PMID:20301601|PMID:25677497|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 20241210 ClinVar ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis PMID:15728307|PMID:20052765|PMID:20301601|PMID:25677497|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 20241210 ClinVar ClinVar Annotator: match by term: Inborn genetic diseases PMID:15728307|PMID:20052765|PMID:20301601|PMID:25677497|PMID:25741868|PMID:28492532|PMID:30078242 10044801 CV188054 NM_024411.5(PDYN):c.217A>G (p.Thr73Ala) variant DOID:0050973 spinocerebellar ataxia type 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 20241112 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 20221108 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 20221108 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 20220607 ClinVar ClinVar Annotator: match by term: Sessile serrated polyposis cancer syndrome PMID:22552244|PMID:27081527 10044804 CV188056 NM_017763.6(RNF43):c.394C>T (p.Arg132Ter) variant DOID:9008330 Serrated Polyposis IAGP D RGD:8554872 20220607 ClinVar ClinVar Annotator: match by term: Colon serrated polyposis PMID:22552244|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 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:0060536 mitochondrial complex I deficiency IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF PMID:25741868|PMID:25772934 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:0111875 MLS syndrome IAGP D RGD:8554872 20200619 ClinVar ClinVar Annotator: match by term: MLS syndrome 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 10044820 CV188131 NM_001135998.3(NDUFB11):c.262C>T (p.Arg88Ter) variant DOID:0112074 nuclear type mitochondrial complex I deficiency 1 IAGP D RGD:8554872 20200512 ClinVar ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1 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 20201208 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 32 PMID:15694325|PMID:16002579|PMID:21044565|PMID:25477152|PMID:25741868|PMID:25751627|PMID:27733563|PMID:28492532|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 20201208 ClinVar ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1 PMID:15694325|PMID:16002579|PMID:21044565|PMID:25477152|PMID:25741868|PMID:25751627|PMID:27733563|PMID:28492532|PMID:8663992|PMID:8663993 10044827 CV188155 NM_004974.4(KCNA2):c.890G>A (p.Arg297Gln) variant DOID:630 genetic disease IAGP D RGD:8554872 20201208 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:8663992|PMID:8663993 10044827 CV188155 NM_004974.4(KCNA2):c.890G>A (p.Arg297Gln) variant DOID:9004429 Neurodevelopmental Disorders IAGP D RGD:8554872 20210511 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: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:2843 long QT syndrome IAGP D RGD:8554872 20230214 ClinVar ClinVar Annotator: match by term: Long QT syndrome 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 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